Incidental Mutation 'R5072:Utrn'
ID 388892
Institutional Source Beutler Lab
Gene Symbol Utrn
Ensembl Gene ENSMUSG00000019820
Gene Name utrophin
Synonyms G-utrophin, Dmdl, DRP
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5072 (G1)
Quality Score 195
Status Not validated
Chromosome 10
Chromosomal Location 12257932-12745109 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 12259948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076817] [ENSMUST00000076817] [ENSMUST00000076817] [ENSMUST00000076817] [ENSMUST00000217994] [ENSMUST00000217994] [ENSMUST00000217994] [ENSMUST00000218635] [ENSMUST00000218635] [ENSMUST00000218635] [ENSMUST00000218635] [ENSMUST00000219003] [ENSMUST00000219003] [ENSMUST00000219003] [ENSMUST00000219003]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000076817
SMART Domains Protein: ENSMUSP00000076093
Gene: ENSMUSG00000019820

DomainStartEndE-ValueType
CH 33 133 1.87e-24 SMART
CH 152 250 4.05e-20 SMART
SPEC 312 416 2.31e-18 SMART
SPEC 421 525 4.18e-16 SMART
SPEC 532 636 3.35e-6 SMART
low complexity region 665 679 N/A INTRINSIC
SPEC 690 795 1.7e-7 SMART
SPEC 801 901 1e-4 SMART
SPEC 910 1012 8.24e-2 SMART
SPEC 1019 1121 1.32e-4 SMART
SPEC 1128 1229 2.64e-4 SMART
SPEC 1236 1333 4.42e-6 SMART
coiled coil region 1375 1401 N/A INTRINSIC
SPEC 1438 1540 3.62e-2 SMART
SPEC 1547 1648 7.95e-1 SMART
SPEC 1655 1752 3.56e0 SMART
coiled coil region 1766 1795 N/A INTRINSIC
SPEC 1870 1972 3.63e0 SMART
SPEC 1979 2080 5.15e-16 SMART
SPEC 2087 2183 3.71e0 SMART
SPEC 2227 2330 4.7e-10 SMART
SPEC 2337 2437 1.02e0 SMART
SPEC 2444 2553 2.35e-10 SMART
SPEC 2560 2685 8.77e-10 SMART
SPEC 2692 2794 4.13e-6 SMART
WW 2811 2843 5.59e-7 SMART
Pfam:EF-hand_2 2844 2962 3.8e-41 PFAM
Pfam:EF-hand_3 2966 3057 1.6e-39 PFAM
ZnF_ZZ 3062 3107 6.33e-17 SMART
coiled coil region 3250 3289 N/A INTRINSIC
coiled coil region 3310 3354 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000076817
SMART Domains Protein: ENSMUSP00000076093
Gene: ENSMUSG00000019820

DomainStartEndE-ValueType
CH 33 133 1.87e-24 SMART
CH 152 250 4.05e-20 SMART
SPEC 312 416 2.31e-18 SMART
SPEC 421 525 4.18e-16 SMART
SPEC 532 636 3.35e-6 SMART
low complexity region 665 679 N/A INTRINSIC
SPEC 690 795 1.7e-7 SMART
SPEC 801 901 1e-4 SMART
SPEC 910 1012 8.24e-2 SMART
SPEC 1019 1121 1.32e-4 SMART
SPEC 1128 1229 2.64e-4 SMART
SPEC 1236 1333 4.42e-6 SMART
coiled coil region 1375 1401 N/A INTRINSIC
SPEC 1438 1540 3.62e-2 SMART
SPEC 1547 1648 7.95e-1 SMART
SPEC 1655 1752 3.56e0 SMART
coiled coil region 1766 1795 N/A INTRINSIC
SPEC 1870 1972 3.63e0 SMART
SPEC 1979 2080 5.15e-16 SMART
SPEC 2087 2183 3.71e0 SMART
SPEC 2227 2330 4.7e-10 SMART
SPEC 2337 2437 1.02e0 SMART
SPEC 2444 2553 2.35e-10 SMART
SPEC 2560 2685 8.77e-10 SMART
SPEC 2692 2794 4.13e-6 SMART
WW 2811 2843 5.59e-7 SMART
Pfam:EF-hand_2 2844 2962 3.8e-41 PFAM
Pfam:EF-hand_3 2966 3057 1.6e-39 PFAM
ZnF_ZZ 3062 3107 6.33e-17 SMART
coiled coil region 3250 3289 N/A INTRINSIC
coiled coil region 3310 3354 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000076817
SMART Domains Protein: ENSMUSP00000076093
Gene: ENSMUSG00000019820

DomainStartEndE-ValueType
CH 33 133 1.87e-24 SMART
CH 152 250 4.05e-20 SMART
SPEC 312 416 2.31e-18 SMART
SPEC 421 525 4.18e-16 SMART
SPEC 532 636 3.35e-6 SMART
low complexity region 665 679 N/A INTRINSIC
SPEC 690 795 1.7e-7 SMART
SPEC 801 901 1e-4 SMART
SPEC 910 1012 8.24e-2 SMART
SPEC 1019 1121 1.32e-4 SMART
SPEC 1128 1229 2.64e-4 SMART
SPEC 1236 1333 4.42e-6 SMART
coiled coil region 1375 1401 N/A INTRINSIC
SPEC 1438 1540 3.62e-2 SMART
SPEC 1547 1648 7.95e-1 SMART
SPEC 1655 1752 3.56e0 SMART
coiled coil region 1766 1795 N/A INTRINSIC
SPEC 1870 1972 3.63e0 SMART
SPEC 1979 2080 5.15e-16 SMART
SPEC 2087 2183 3.71e0 SMART
SPEC 2227 2330 4.7e-10 SMART
SPEC 2337 2437 1.02e0 SMART
SPEC 2444 2553 2.35e-10 SMART
SPEC 2560 2685 8.77e-10 SMART
SPEC 2692 2794 4.13e-6 SMART
WW 2811 2843 5.59e-7 SMART
Pfam:EF-hand_2 2844 2962 3.8e-41 PFAM
Pfam:EF-hand_3 2966 3057 1.6e-39 PFAM
ZnF_ZZ 3062 3107 6.33e-17 SMART
coiled coil region 3250 3289 N/A INTRINSIC
coiled coil region 3310 3354 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000076817
SMART Domains Protein: ENSMUSP00000076093
Gene: ENSMUSG00000019820

DomainStartEndE-ValueType
CH 33 133 1.87e-24 SMART
CH 152 250 4.05e-20 SMART
SPEC 312 416 2.31e-18 SMART
SPEC 421 525 4.18e-16 SMART
SPEC 532 636 3.35e-6 SMART
low complexity region 665 679 N/A INTRINSIC
SPEC 690 795 1.7e-7 SMART
SPEC 801 901 1e-4 SMART
SPEC 910 1012 8.24e-2 SMART
SPEC 1019 1121 1.32e-4 SMART
SPEC 1128 1229 2.64e-4 SMART
SPEC 1236 1333 4.42e-6 SMART
coiled coil region 1375 1401 N/A INTRINSIC
SPEC 1438 1540 3.62e-2 SMART
SPEC 1547 1648 7.95e-1 SMART
SPEC 1655 1752 3.56e0 SMART
coiled coil region 1766 1795 N/A INTRINSIC
SPEC 1870 1972 3.63e0 SMART
SPEC 1979 2080 5.15e-16 SMART
SPEC 2087 2183 3.71e0 SMART
SPEC 2227 2330 4.7e-10 SMART
SPEC 2337 2437 1.02e0 SMART
SPEC 2444 2553 2.35e-10 SMART
SPEC 2560 2685 8.77e-10 SMART
SPEC 2692 2794 4.13e-6 SMART
WW 2811 2843 5.59e-7 SMART
Pfam:EF-hand_2 2844 2962 3.8e-41 PFAM
Pfam:EF-hand_3 2966 3057 1.6e-39 PFAM
ZnF_ZZ 3062 3107 6.33e-17 SMART
coiled coil region 3250 3289 N/A INTRINSIC
coiled coil region 3310 3354 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000217994
Predicted Effect probably null
Transcript: ENSMUST00000217994
Predicted Effect probably null
Transcript: ENSMUST00000217994
Predicted Effect probably null
Transcript: ENSMUST00000218635
Predicted Effect probably null
Transcript: ENSMUST00000218635
Predicted Effect probably null
Transcript: ENSMUST00000218635
Predicted Effect probably null
Transcript: ENSMUST00000218635
Predicted Effect probably null
Transcript: ENSMUST00000219003
Predicted Effect probably null
Transcript: ENSMUST00000219003
Predicted Effect probably null
Transcript: ENSMUST00000219003
Predicted Effect probably null
Transcript: ENSMUST00000219003
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 95.9%
  • 20x: 90.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants have reduced density of acetylcholine receptors and reduced number of junctional folds at neuromuscular junctions. Mice homozygous for utrophin and dystrophin knockouts die prematurely with severe, progressive muscular dystrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A T 13: 61,001,414 (GRCm39) H104Q probably benign Het
4933405L10Rik A G 8: 106,436,201 (GRCm39) T158A possibly damaging Het
A1cf T C 19: 31,895,385 (GRCm39) M156T probably benign Het
Abca15 A G 7: 120,006,198 (GRCm39) Y1620C probably damaging Het
Abca3 C T 17: 24,593,274 (GRCm39) R224C probably damaging Het
Ablim1 A G 19: 57,062,285 (GRCm39) probably null Het
Acox2 A T 14: 8,241,374 (GRCm38) Y579* probably null Het
Adnp A T 2: 168,024,921 (GRCm39) S791R probably damaging Het
Agbl1 A G 7: 76,071,665 (GRCm39) E329G probably damaging Het
Alx3 G T 3: 107,512,109 (GRCm39) S249I possibly damaging Het
Apob A G 12: 8,058,714 (GRCm39) T2366A probably benign Het
Apool C T X: 111,259,540 (GRCm39) Q60* probably null Het
Arid4a T C 12: 71,091,853 (GRCm39) V213A probably benign Het
Atp7a A G X: 105,153,374 (GRCm39) D1092G probably benign Het
Bpifa5 A T 2: 154,007,892 (GRCm39) E178V probably damaging Het
Car4 G A 11: 84,854,193 (GRCm39) E47K probably benign Het
Catsper1 T C 19: 5,390,074 (GRCm39) probably null Het
Ccdc63 T A 5: 122,259,118 (GRCm39) Q260L probably benign Het
Ccdc83 A T 7: 89,899,737 (GRCm39) F45Y probably damaging Het
Cct8l1 G A 5: 25,721,881 (GRCm39) V199I probably benign Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Ces5a C T 8: 94,261,296 (GRCm39) V44M probably damaging Het
Cltc A G 11: 86,608,794 (GRCm39) I741T possibly damaging Het
Cnst C A 1: 179,450,451 (GRCm39) D638E possibly damaging Het
Col13a1 A G 10: 61,709,797 (GRCm39) silent Het
Cyp2a22 A T 7: 26,631,906 (GRCm39) F450Y probably benign Het
Cyp2d10 C T 15: 82,287,954 (GRCm39) R383H probably benign Het
Cyp4a29 A G 4: 115,104,860 (GRCm39) T123A probably benign Het
Ddx20 A G 3: 105,590,191 (GRCm39) probably null Het
Dnaja3 A T 16: 4,514,289 (GRCm39) T274S probably damaging Het
Dot1l A G 10: 80,620,480 (GRCm39) D514G possibly damaging Het
Dysf A T 6: 84,114,254 (GRCm39) K1226M probably damaging Het
Epha4 T C 1: 77,421,639 (GRCm39) Y281C probably damaging Het
Fbxo42 T C 4: 140,926,256 (GRCm39) W313R probably damaging Het
Fign A T 2: 63,810,037 (GRCm39) L411* probably null Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Fryl G A 5: 73,232,110 (GRCm39) P1550L probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gprasp2 C T X: 134,743,346 (GRCm39) T235I possibly damaging Het
Gtf2ird1 G T 5: 134,419,787 (GRCm39) probably null Het
H2ab3 T C X: 119,222,543 (GRCm39) T84A probably damaging Het
H2ac20 C T 3: 96,128,099 (GRCm39) probably benign Het
Hal A T 10: 93,349,904 (GRCm39) I555F probably damaging Het
Hdac6 A G X: 7,811,036 (GRCm39) F104L probably damaging Homo
Hspg2 T C 4: 137,267,541 (GRCm39) S2050P probably damaging Het
Irgc T C 7: 24,132,196 (GRCm39) D207G probably benign Het
Kif19a G A 11: 114,658,053 (GRCm39) M37I probably benign Het
Kiss1r C A 10: 79,754,596 (GRCm39) S30* probably null Het
Krtap1-4 C G 11: 99,474,442 (GRCm39) probably benign Het
Lrrfip2 A G 9: 111,028,872 (GRCm39) E365G probably damaging Het
Ly75 A G 2: 60,206,307 (GRCm39) Y121H probably damaging Het
Man2a1 G A 17: 64,966,074 (GRCm39) probably null Het
Mllt10 C A 2: 18,114,685 (GRCm39) H52N possibly damaging Het
Mrtfa A G 15: 80,906,627 (GRCm39) V91A probably damaging Het
Myo1a T C 10: 127,543,288 (GRCm39) probably null Het
Myo3b C A 2: 69,925,593 (GRCm39) T20K possibly damaging Het
Nipsnap2 A T 5: 129,816,644 (GRCm39) K62N probably damaging Het
Nr1i3 C T 1: 171,044,382 (GRCm39) T169I probably benign Het
Numbl G A 7: 26,980,415 (GRCm39) D466N probably damaging Het
Oprm1 A G 10: 6,782,550 (GRCm39) S398G probably benign Het
Or14c46 A G 7: 85,918,799 (GRCm39) I66T probably damaging Het
Or51k1 T A 7: 103,661,325 (GRCm39) R195W probably damaging Het
Or6k2 A T 1: 173,986,527 (GRCm39) I63F probably damaging Het
Or8h10 A T 2: 86,808,666 (GRCm39) V158D possibly damaging Het
Pebp1 G T 5: 117,421,475 (GRCm39) D156E probably benign Het
Pik3c2g T A 6: 139,665,873 (GRCm39) C65S probably null Het
Pilra A G 5: 137,833,674 (GRCm39) F131L probably damaging Het
Pitrm1 T C 13: 6,603,226 (GRCm39) F91S probably damaging Het
Ppl A T 16: 4,906,742 (GRCm39) S1184R probably benign Het
Prmt2 C T 10: 76,058,390 (GRCm39) V140I probably damaging Het
Psg29 T A 7: 16,945,763 (GRCm39) D444E probably damaging Het
Ptgs1 A T 2: 36,141,272 (GRCm39) N573I probably damaging Het
Pygb C T 2: 150,643,498 (GRCm39) T95M probably damaging Het
Rassf9 A G 10: 102,381,766 (GRCm39) K383E probably damaging Het
Rfk T A 19: 17,375,963 (GRCm39) F86I possibly damaging Het
Rims2 T C 15: 39,325,986 (GRCm39) F773L probably benign Het
Sdcbp A G 4: 6,393,019 (GRCm39) I218V probably benign Het
Slc4a2 G A 5: 24,643,760 (GRCm39) S855N probably benign Het
Slc8a2 T C 7: 15,884,508 (GRCm39) L626P possibly damaging Het
Snrpd3 G T 10: 75,355,227 (GRCm39) C20F possibly damaging Het
Spen A T 4: 141,249,613 (GRCm39) S58R unknown Het
St3gal2 T C 8: 111,684,350 (GRCm39) C3R possibly damaging Het
Stab2 A T 10: 86,699,422 (GRCm39) I481N probably benign Het
Stat5b T C 11: 100,699,361 (GRCm39) probably null Het
Tmco3 G T 8: 13,342,860 (GRCm39) E199* probably null Het
Tmem26 A G 10: 68,611,178 (GRCm39) T216A probably damaging Het
Ttn A G 2: 76,550,822 (GRCm39) probably null Het
Ttn A T 2: 76,602,709 (GRCm39) probably null Het
Ttn C T 2: 76,576,746 (GRCm39) V24716I probably damaging Het
Uba5 T C 9: 103,931,626 (GRCm39) E202G probably damaging Het
Ufl1 A G 4: 25,254,780 (GRCm39) Y559H probably benign Het
Vmn2r111 C A 17: 22,767,022 (GRCm39) C825F probably damaging Het
Vmn2r113 T A 17: 23,177,329 (GRCm39) C704* probably null Het
Vmn2r56 A G 7: 12,427,983 (GRCm39) I761T probably benign Het
Vmn2r98 C T 17: 19,286,306 (GRCm39) T268I probably benign Het
Zfp263 A G 16: 3,564,704 (GRCm39) R240G possibly damaging Het
Zfp473 T A 7: 44,381,943 (GRCm39) I797F probably damaging Het
Zfp68 A T 5: 138,604,579 (GRCm39) D543E probably benign Het
Other mutations in Utrn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Utrn APN 10 12,547,574 (GRCm39) missense probably damaging 1.00
IGL00469:Utrn APN 10 12,282,273 (GRCm39) missense probably damaging 1.00
IGL00518:Utrn APN 10 12,542,587 (GRCm39) splice site probably benign
IGL00560:Utrn APN 10 12,331,211 (GRCm39) nonsense probably null
IGL00589:Utrn APN 10 12,554,362 (GRCm39) missense possibly damaging 0.53
IGL00662:Utrn APN 10 12,540,705 (GRCm39) missense probably damaging 0.99
IGL00754:Utrn APN 10 12,539,236 (GRCm39) missense probably benign 0.05
IGL00772:Utrn APN 10 12,524,929 (GRCm39) missense probably benign
IGL00775:Utrn APN 10 12,620,974 (GRCm39) critical splice donor site probably null
IGL00782:Utrn APN 10 12,528,555 (GRCm39) missense probably benign 0.13
IGL00962:Utrn APN 10 12,357,078 (GRCm39) missense possibly damaging 0.80
IGL01584:Utrn APN 10 12,602,111 (GRCm39) missense probably benign 0.01
IGL01677:Utrn APN 10 12,619,901 (GRCm39) missense probably damaging 1.00
IGL01695:Utrn APN 10 12,621,086 (GRCm39) missense probably benign 0.00
IGL01743:Utrn APN 10 12,587,301 (GRCm39) missense possibly damaging 0.94
IGL01815:Utrn APN 10 12,528,460 (GRCm39) missense probably benign 0.00
IGL01901:Utrn APN 10 12,516,672 (GRCm39) missense probably damaging 1.00
IGL01982:Utrn APN 10 12,623,773 (GRCm39) missense probably damaging 1.00
IGL01983:Utrn APN 10 12,545,525 (GRCm39) missense probably benign 0.18
IGL02031:Utrn APN 10 12,610,948 (GRCm39) missense probably damaging 1.00
IGL02106:Utrn APN 10 12,289,717 (GRCm39) missense possibly damaging 0.92
IGL02134:Utrn APN 10 12,519,163 (GRCm39) missense probably damaging 0.99
IGL02209:Utrn APN 10 12,559,039 (GRCm39) missense probably damaging 0.97
IGL02217:Utrn APN 10 12,627,303 (GRCm39) missense probably damaging 1.00
IGL02250:Utrn APN 10 12,312,135 (GRCm39) missense probably damaging 1.00
IGL02307:Utrn APN 10 12,625,809 (GRCm39) nonsense probably null
IGL02386:Utrn APN 10 12,297,352 (GRCm39) missense possibly damaging 0.91
IGL02494:Utrn APN 10 12,585,798 (GRCm39) missense probably benign
IGL02631:Utrn APN 10 12,585,807 (GRCm39) missense probably benign 0.00
IGL02729:Utrn APN 10 12,596,554 (GRCm39) unclassified probably benign
IGL02736:Utrn APN 10 12,297,384 (GRCm39) missense probably damaging 1.00
IGL02832:Utrn APN 10 12,613,937 (GRCm39) missense possibly damaging 0.82
IGL02926:Utrn APN 10 12,566,504 (GRCm39) missense probably damaging 0.96
IGL03184:Utrn APN 10 12,585,910 (GRCm39) missense probably benign 0.04
IGL03194:Utrn APN 10 12,282,173 (GRCm39) splice site probably benign
IGL03346:Utrn APN 10 12,401,096 (GRCm39) missense probably benign 0.22
retiring UTSW 10 12,516,764 (GRCm39) missense probably damaging 1.00
shrinking_violet UTSW 10 12,587,329 (GRCm39) critical splice acceptor site probably null
Wallflower UTSW 10 12,623,719 (GRCm39) missense probably damaging 1.00
FR4548:Utrn UTSW 10 12,509,685 (GRCm39) critical splice donor site probably benign
I2288:Utrn UTSW 10 12,297,384 (GRCm39) missense probably damaging 1.00
PIT4677001:Utrn UTSW 10 12,542,448 (GRCm39) missense probably benign 0.06
R0022:Utrn UTSW 10 12,585,700 (GRCm39) splice site probably benign
R0024:Utrn UTSW 10 12,281,755 (GRCm39) missense probably benign 0.00
R0024:Utrn UTSW 10 12,281,755 (GRCm39) missense probably benign 0.00
R0026:Utrn UTSW 10 12,601,940 (GRCm39) splice site probably benign
R0026:Utrn UTSW 10 12,601,940 (GRCm39) splice site probably benign
R0091:Utrn UTSW 10 12,610,948 (GRCm39) missense probably damaging 1.00
R0112:Utrn UTSW 10 12,562,209 (GRCm39) nonsense probably null
R0126:Utrn UTSW 10 12,587,219 (GRCm39) missense probably benign 0.02
R0184:Utrn UTSW 10 12,543,362 (GRCm39) missense probably benign
R0219:Utrn UTSW 10 12,560,195 (GRCm39) missense probably damaging 1.00
R0369:Utrn UTSW 10 12,509,766 (GRCm39) missense probably benign 0.37
R0390:Utrn UTSW 10 12,585,804 (GRCm39) missense probably benign 0.05
R0391:Utrn UTSW 10 12,401,077 (GRCm39) splice site probably benign
R0408:Utrn UTSW 10 12,259,934 (GRCm39) makesense probably null
R0409:Utrn UTSW 10 12,519,345 (GRCm39) missense probably benign 0.01
R0441:Utrn UTSW 10 12,564,038 (GRCm39) missense probably null 0.88
R0504:Utrn UTSW 10 12,278,639 (GRCm39) missense probably benign 0.02
R0730:Utrn UTSW 10 12,573,902 (GRCm39) splice site probably benign
R1078:Utrn UTSW 10 12,331,310 (GRCm39) critical splice acceptor site probably null
R1171:Utrn UTSW 10 12,357,052 (GRCm39) missense probably damaging 0.99
R1191:Utrn UTSW 10 12,509,777 (GRCm39) missense probably benign 0.02
R1203:Utrn UTSW 10 12,362,281 (GRCm39) missense probably damaging 1.00
R1401:Utrn UTSW 10 12,524,897 (GRCm39) missense probably benign
R1418:Utrn UTSW 10 12,589,094 (GRCm39) missense probably benign
R1439:Utrn UTSW 10 12,619,793 (GRCm39) missense possibly damaging 0.79
R1441:Utrn UTSW 10 12,559,039 (GRCm39) missense probably damaging 0.97
R1445:Utrn UTSW 10 12,554,318 (GRCm39) splice site probably benign
R1509:Utrn UTSW 10 12,331,185 (GRCm39) missense possibly damaging 0.91
R1546:Utrn UTSW 10 12,312,108 (GRCm39) missense probably damaging 1.00
R1585:Utrn UTSW 10 12,312,029 (GRCm39) missense possibly damaging 0.62
R1621:Utrn UTSW 10 12,589,027 (GRCm39) missense probably benign 0.24
R1637:Utrn UTSW 10 12,312,108 (GRCm39) missense probably damaging 1.00
R1703:Utrn UTSW 10 12,603,473 (GRCm39) splice site probably benign
R1725:Utrn UTSW 10 12,539,263 (GRCm39) missense probably damaging 0.99
R1735:Utrn UTSW 10 12,585,882 (GRCm39) missense probably benign
R1770:Utrn UTSW 10 12,351,040 (GRCm39) missense probably damaging 0.98
R1778:Utrn UTSW 10 12,312,108 (GRCm39) missense probably damaging 1.00
R1783:Utrn UTSW 10 12,339,083 (GRCm39) missense probably damaging 1.00
R1818:Utrn UTSW 10 12,585,708 (GRCm39) critical splice donor site probably null
R1829:Utrn UTSW 10 12,351,018 (GRCm39) missense probably damaging 1.00
R1919:Utrn UTSW 10 12,331,224 (GRCm39) missense probably benign 0.15
R1964:Utrn UTSW 10 12,560,181 (GRCm39) missense probably damaging 1.00
R2080:Utrn UTSW 10 12,612,826 (GRCm39) missense probably benign 0.36
R2092:Utrn UTSW 10 12,554,442 (GRCm39) missense probably benign 0.12
R2107:Utrn UTSW 10 12,312,108 (GRCm39) missense probably damaging 1.00
R2108:Utrn UTSW 10 12,312,108 (GRCm39) missense probably damaging 1.00
R2760:Utrn UTSW 10 12,566,622 (GRCm39) missense probably damaging 1.00
R2884:Utrn UTSW 10 12,615,105 (GRCm39) splice site probably null
R2885:Utrn UTSW 10 12,615,105 (GRCm39) splice site probably null
R2886:Utrn UTSW 10 12,615,105 (GRCm39) splice site probably null
R2903:Utrn UTSW 10 12,519,172 (GRCm39) missense probably damaging 1.00
R2944:Utrn UTSW 10 12,519,163 (GRCm39) missense probably damaging 1.00
R2945:Utrn UTSW 10 12,362,135 (GRCm39) missense possibly damaging 0.50
R3438:Utrn UTSW 10 12,357,062 (GRCm39) missense probably damaging 0.98
R3683:Utrn UTSW 10 12,542,579 (GRCm39) missense probably benign 0.10
R3735:Utrn UTSW 10 12,354,228 (GRCm39) missense probably damaging 1.00
R3907:Utrn UTSW 10 12,585,926 (GRCm39) splice site probably benign
R3923:Utrn UTSW 10 12,615,223 (GRCm39) missense probably benign 0.23
R3925:Utrn UTSW 10 12,573,786 (GRCm39) missense probably benign
R3926:Utrn UTSW 10 12,573,786 (GRCm39) missense probably benign
R3938:Utrn UTSW 10 12,625,774 (GRCm39) critical splice donor site probably null
R3941:Utrn UTSW 10 12,587,329 (GRCm39) critical splice acceptor site probably null
R3958:Utrn UTSW 10 12,625,852 (GRCm39) missense probably damaging 1.00
R4091:Utrn UTSW 10 12,585,915 (GRCm39) missense probably benign 0.10
R4454:Utrn UTSW 10 12,603,584 (GRCm39) missense possibly damaging 0.81
R4585:Utrn UTSW 10 12,564,050 (GRCm39) missense probably benign 0.01
R4667:Utrn UTSW 10 12,573,797 (GRCm39) missense probably benign 0.22
R4684:Utrn UTSW 10 12,620,984 (GRCm39) missense probably damaging 1.00
R4782:Utrn UTSW 10 12,625,813 (GRCm39) missense probably damaging 1.00
R4785:Utrn UTSW 10 12,530,489 (GRCm39) missense probably benign 0.39
R4799:Utrn UTSW 10 12,625,813 (GRCm39) missense probably damaging 1.00
R4829:Utrn UTSW 10 12,539,205 (GRCm39) missense probably benign 0.00
R4878:Utrn UTSW 10 12,603,502 (GRCm39) missense probably damaging 1.00
R4955:Utrn UTSW 10 12,737,311 (GRCm39) critical splice donor site probably null
R4967:Utrn UTSW 10 12,331,164 (GRCm39) missense probably damaging 0.99
R5071:Utrn UTSW 10 12,259,948 (GRCm39) splice site probably null
R5186:Utrn UTSW 10 12,604,521 (GRCm39) missense probably damaging 1.00
R5213:Utrn UTSW 10 12,512,504 (GRCm39) missense probably damaging 1.00
R5296:Utrn UTSW 10 12,277,099 (GRCm39) missense probably damaging 1.00
R5309:Utrn UTSW 10 12,603,513 (GRCm39) missense probably damaging 1.00
R5312:Utrn UTSW 10 12,603,513 (GRCm39) missense probably damaging 1.00
R5399:Utrn UTSW 10 12,516,727 (GRCm39) missense probably damaging 1.00
R5407:Utrn UTSW 10 12,556,369 (GRCm39) missense probably damaging 1.00
R5411:Utrn UTSW 10 12,524,929 (GRCm39) missense probably benign
R5428:Utrn UTSW 10 12,569,175 (GRCm39) missense probably benign 0.09
R5595:Utrn UTSW 10 12,558,062 (GRCm39) missense possibly damaging 0.89
R5602:Utrn UTSW 10 12,625,839 (GRCm39) missense probably damaging 1.00
R5608:Utrn UTSW 10 12,547,581 (GRCm39) missense probably benign 0.00
R5678:Utrn UTSW 10 12,317,762 (GRCm39) missense probably damaging 1.00
R5726:Utrn UTSW 10 12,545,550 (GRCm39) missense probably benign
R5804:Utrn UTSW 10 12,297,369 (GRCm39) missense probably damaging 1.00
R5916:Utrn UTSW 10 12,540,795 (GRCm39) missense probably damaging 0.97
R5941:Utrn UTSW 10 12,362,227 (GRCm39) missense probably damaging 1.00
R6014:Utrn UTSW 10 12,566,620 (GRCm39) missense probably benign 0.01
R6015:Utrn UTSW 10 12,354,168 (GRCm39) missense possibly damaging 0.85
R6028:Utrn UTSW 10 12,530,460 (GRCm39) missense probably benign 0.00
R6158:Utrn UTSW 10 12,566,566 (GRCm39) missense probably benign 0.04
R6181:Utrn UTSW 10 12,615,200 (GRCm39) missense probably damaging 1.00
R6300:Utrn UTSW 10 12,377,220 (GRCm39) missense probably benign 0.35
R6367:Utrn UTSW 10 12,623,719 (GRCm39) missense probably damaging 1.00
R6377:Utrn UTSW 10 12,619,827 (GRCm39) missense probably damaging 1.00
R6434:Utrn UTSW 10 12,401,171 (GRCm39) missense probably damaging 1.00
R6498:Utrn UTSW 10 12,317,837 (GRCm39) missense probably benign
R6579:Utrn UTSW 10 12,623,750 (GRCm39) missense probably benign 0.05
R6704:Utrn UTSW 10 12,621,035 (GRCm39) missense probably damaging 0.99
R6736:Utrn UTSW 10 12,497,047 (GRCm39) missense probably benign 0.09
R6755:Utrn UTSW 10 12,574,831 (GRCm39) missense probably benign 0.00
R6793:Utrn UTSW 10 12,574,844 (GRCm39) missense possibly damaging 0.69
R6793:Utrn UTSW 10 12,516,669 (GRCm39) critical splice donor site probably null
R6835:Utrn UTSW 10 12,603,508 (GRCm39) missense probably damaging 1.00
R6919:Utrn UTSW 10 12,569,214 (GRCm39) nonsense probably null
R6920:Utrn UTSW 10 12,626,214 (GRCm39) missense probably damaging 0.98
R7037:Utrn UTSW 10 12,702,514 (GRCm39) splice site probably null
R7038:Utrn UTSW 10 12,558,082 (GRCm39) missense probably damaging 1.00
R7055:Utrn UTSW 10 12,623,665 (GRCm39) missense probably benign 0.23
R7072:Utrn UTSW 10 12,340,957 (GRCm39) missense probably damaging 1.00
R7090:Utrn UTSW 10 12,560,260 (GRCm39) missense possibly damaging 0.58
R7211:Utrn UTSW 10 12,277,079 (GRCm39) missense possibly damaging 0.72
R7248:Utrn UTSW 10 12,604,562 (GRCm39) missense possibly damaging 0.51
R7305:Utrn UTSW 10 12,261,280 (GRCm39) missense probably benign
R7334:Utrn UTSW 10 12,603,753 (GRCm39) splice site probably null
R7348:Utrn UTSW 10 12,623,762 (GRCm39) missense probably damaging 1.00
R7375:Utrn UTSW 10 12,516,764 (GRCm39) missense probably damaging 1.00
R7436:Utrn UTSW 10 12,315,535 (GRCm39) missense possibly damaging 0.72
R7476:Utrn UTSW 10 12,516,695 (GRCm39) missense probably benign
R7514:Utrn UTSW 10 12,573,833 (GRCm39) missense probably benign 0.00
R7527:Utrn UTSW 10 12,277,126 (GRCm39) missense possibly damaging 0.81
R7735:Utrn UTSW 10 12,619,787 (GRCm39) critical splice donor site probably null
R7748:Utrn UTSW 10 12,490,252 (GRCm39) missense probably benign 0.01
R7778:Utrn UTSW 10 12,362,354 (GRCm39) missense probably damaging 1.00
R7824:Utrn UTSW 10 12,362,354 (GRCm39) missense probably damaging 1.00
R7826:Utrn UTSW 10 12,277,050 (GRCm39) splice site probably null
R7872:Utrn UTSW 10 12,573,873 (GRCm39) missense probably benign
R7915:Utrn UTSW 10 12,340,956 (GRCm39) missense probably damaging 1.00
R7922:Utrn UTSW 10 12,543,271 (GRCm39) missense possibly damaging 0.68
R8081:Utrn UTSW 10 12,423,803 (GRCm39) start gained probably benign
R8132:Utrn UTSW 10 12,558,154 (GRCm39) missense probably damaging 0.99
R8167:Utrn UTSW 10 12,547,558 (GRCm39) nonsense probably null
R8186:Utrn UTSW 10 12,573,867 (GRCm39) missense probably benign
R8331:Utrn UTSW 10 12,490,363 (GRCm39) missense probably benign 0.00
R8352:Utrn UTSW 10 12,689,253 (GRCm39) missense probably benign 0.34
R8408:Utrn UTSW 10 12,545,887 (GRCm39) missense possibly damaging 0.69
R8452:Utrn UTSW 10 12,689,253 (GRCm39) missense probably benign 0.34
R8478:Utrn UTSW 10 12,524,892 (GRCm39) missense probably benign
R8489:Utrn UTSW 10 12,587,190 (GRCm39) missense probably benign 0.05
R8516:Utrn UTSW 10 12,362,254 (GRCm39) missense probably damaging 0.99
R8520:Utrn UTSW 10 12,545,930 (GRCm39) nonsense probably null
R8550:Utrn UTSW 10 12,689,329 (GRCm39) intron probably benign
R8856:Utrn UTSW 10 12,543,351 (GRCm39) missense probably benign
R8881:Utrn UTSW 10 12,423,737 (GRCm39) missense possibly damaging 0.46
R9180:Utrn UTSW 10 12,545,463 (GRCm39) missense probably damaging 1.00
R9186:Utrn UTSW 10 12,490,318 (GRCm39) missense probably benign
R9216:Utrn UTSW 10 12,689,229 (GRCm39) missense probably benign 0.19
R9251:Utrn UTSW 10 12,512,531 (GRCm39) missense probably benign 0.01
R9273:Utrn UTSW 10 12,509,707 (GRCm39) missense probably damaging 0.97
R9307:Utrn UTSW 10 12,554,475 (GRCm39) missense probably benign 0.02
R9344:Utrn UTSW 10 12,560,275 (GRCm39) missense probably benign 0.17
R9419:Utrn UTSW 10 12,564,125 (GRCm39) missense probably damaging 1.00
R9435:Utrn UTSW 10 12,519,173 (GRCm39) missense probably damaging 1.00
R9623:Utrn UTSW 10 12,282,225 (GRCm39) missense probably damaging 1.00
R9650:Utrn UTSW 10 12,613,929 (GRCm39) missense probably benign 0.00
R9653:Utrn UTSW 10 12,539,189 (GRCm39) missense probably benign 0.41
R9653:Utrn UTSW 10 12,497,123 (GRCm39) missense probably benign 0.17
R9672:Utrn UTSW 10 12,603,613 (GRCm39) missense possibly damaging 0.68
R9678:Utrn UTSW 10 12,615,159 (GRCm39) missense probably benign 0.00
R9741:Utrn UTSW 10 12,702,564 (GRCm39) missense probably benign
R9765:Utrn UTSW 10 12,610,921 (GRCm39) missense probably damaging 0.99
R9799:Utrn UTSW 10 12,585,736 (GRCm39) missense probably benign 0.01
RF009:Utrn UTSW 10 12,509,689 (GRCm39) nonsense probably null
V1662:Utrn UTSW 10 12,297,384 (GRCm39) missense probably damaging 1.00
X0018:Utrn UTSW 10 12,610,942 (GRCm39) missense probably damaging 1.00
Z1176:Utrn UTSW 10 12,564,173 (GRCm39) critical splice acceptor site probably null
Z1176:Utrn UTSW 10 12,558,104 (GRCm39) nonsense probably null
Z1177:Utrn UTSW 10 12,497,123 (GRCm39) missense probably benign 0.17
Z1177:Utrn UTSW 10 12,401,150 (GRCm39) nonsense probably null
Z1186:Utrn UTSW 10 12,545,491 (GRCm39) missense probably damaging 1.00
Z1189:Utrn UTSW 10 12,545,491 (GRCm39) missense probably damaging 1.00
Z1191:Utrn UTSW 10 12,545,491 (GRCm39) missense probably damaging 1.00
Z1192:Utrn UTSW 10 12,545,491 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGTGTTTGGTTCCCTCAGTAG -3'
(R):5'- TGACCTGGGTTTCTAGCCTG -3'

Sequencing Primer
(F):5'- AGTGTTTGGTTCCCTCAGTAGAACAC -3'
(R):5'- AACAGCTGGCATGTGACTTC -3'
Posted On 2016-06-06