Incidental Mutation 'R7011:Uaca'
ID 545025
Institutional Source Beutler Lab
Gene Symbol Uaca
Ensembl Gene ENSMUSG00000034485
Gene Name uveal autoantigen with coiled-coil domains and ankyrin repeats
Synonyms nucling, 2700059D02Rik
MMRRC Submission 045112-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # R7011 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 60701824-60787652 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 60777650 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 679 (E679G)
Ref Sequence ENSEMBL: ENSMUSP00000062047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050183] [ENSMUST00000214354]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000050183
AA Change: E679G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485
AA Change: E679G

DomainStartEndE-ValueType
low complexity region 13 31 N/A INTRINSIC
ANK 35 68 2.66e3 SMART
ANK 69 98 1.96e-3 SMART
ANK 102 131 1.65e-1 SMART
ANK 135 164 1.38e-3 SMART
ANK 168 197 3.65e-3 SMART
ANK 201 230 6.26e-2 SMART
Blast:ANK 234 263 7e-9 BLAST
coiled coil region 301 381 N/A INTRINSIC
coiled coil region 445 626 N/A INTRINSIC
Pfam:TolA_bind_tri 869 943 4e-11 PFAM
coiled coil region 1009 1382 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000214354
AA Change: E677G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000217656
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (66/69)
MGI Phenotype PHENOTYPE: Homozygous mice display swelling of and inflammatory lesions in the preputial gland. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 C T 11: 46,033,845 (GRCm39) P886S probably benign Het
Anapc1 C T 2: 128,490,601 (GRCm39) probably null Het
Ankrd34c C A 9: 89,611,001 (GRCm39) G447* probably null Het
Apbb1ip A T 2: 22,725,943 (GRCm39) E238D probably damaging Het
Arfgap1 T C 2: 180,613,935 (GRCm39) L110P probably damaging Het
Arhgap21 G A 2: 20,853,689 (GRCm39) T1901I possibly damaging Het
Brpf1 C A 6: 113,295,427 (GRCm39) Q679K probably benign Het
Btnl2 A G 17: 34,582,487 (GRCm39) E351G probably damaging Het
Cd209f T A 8: 4,154,859 (GRCm39) T80S probably benign Het
Cdc16 A G 8: 13,819,451 (GRCm39) E349G probably damaging Het
Cfap53 A T 18: 74,462,564 (GRCm39) D436V probably benign Het
Crhr2 A T 6: 55,076,195 (GRCm39) probably null Het
Cux1 T C 5: 136,388,887 (GRCm39) K226E probably damaging Het
Ddr2 A T 1: 169,809,672 (GRCm39) D768E probably damaging Het
Dhx8 T C 11: 101,632,346 (GRCm39) L435P probably damaging Het
Dnah11 AGGCC AGGCCGGCC 12: 117,885,753 (GRCm39) probably null Het
Eif4ebp1 G A 8: 27,763,372 (GRCm39) R55Q probably damaging Het
Fbh1 T A 2: 11,767,774 (GRCm39) D358V probably damaging Het
Fra10ac1 T A 19: 38,177,242 (GRCm39) E304D probably benign Het
Gabrb2 T C 11: 42,517,488 (GRCm39) S399P possibly damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Gprin2 G T 14: 33,917,393 (GRCm39) H126N probably null Het
Gucy1a1 A G 3: 82,016,422 (GRCm39) S189P probably damaging Het
Htr1d T C 4: 136,170,317 (GRCm39) M182T probably benign Het
Lipc A G 9: 70,726,236 (GRCm39) F73L probably benign Het
Liph A G 16: 21,802,847 (GRCm39) I74T probably damaging Het
Lrif1 T G 3: 106,639,601 (GRCm39) Y229D probably damaging Het
Magel2 C T 7: 62,028,281 (GRCm39) T395I possibly damaging Het
Magi3 T C 3: 104,013,070 (GRCm39) N139S probably damaging Het
Man2c1 T A 9: 57,045,117 (GRCm39) V336E probably damaging Het
Mapk12 A T 15: 89,019,803 (GRCm39) Y135N probably damaging Het
Mapkapk3 C T 9: 107,166,595 (GRCm39) probably benign Het
Mast1 A T 8: 85,638,574 (GRCm39) Y653* probably null Het
Muc16 T A 9: 18,548,839 (GRCm39) H5818L probably benign Het
Muc16 T A 9: 18,548,747 (GRCm39) I5849F probably benign Het
Ndufa10 A G 1: 92,398,581 (GRCm39) S68P probably damaging Het
Nedd1 C A 10: 92,526,635 (GRCm39) L503F probably benign Het
Nr1i3 A G 1: 171,041,927 (GRCm39) M4V probably benign Het
Or12e9 G A 2: 87,202,604 (GRCm39) A243T possibly damaging Het
Or2av9 T A 11: 58,380,970 (GRCm39) I204F possibly damaging Het
Or4f14b A T 2: 111,775,031 (GRCm39) F257I probably benign Het
Or9i2 T C 19: 13,816,403 (GRCm39) I45V probably benign Het
Pcdh18 A T 3: 49,709,231 (GRCm39) S695T probably benign Het
Pcdha1 T C 18: 37,063,588 (GRCm39) I84T probably damaging Het
Plek T A 11: 16,944,760 (GRCm39) D90V possibly damaging Het
Ppp6r1 A G 7: 4,649,825 (GRCm39) C47R probably damaging Het
Psg27 G C 7: 18,290,798 (GRCm39) N468K probably benign Het
Ptchd4 G A 17: 42,814,759 (GRCm39) E887K probably benign Het
Rabgap1 C T 2: 37,430,492 (GRCm39) L678F probably damaging Het
Rmdn3 T C 2: 118,968,904 (GRCm39) Y429C probably damaging Het
Ros1 A T 10: 52,056,272 (GRCm39) C73S probably damaging Het
Rtkn2 G A 10: 67,815,495 (GRCm39) probably benign Het
Slc25a42 A G 8: 70,639,352 (GRCm39) S242P probably damaging Het
Smtnl1 T A 2: 84,648,753 (GRCm39) D167V probably benign Het
Smurf2 A G 11: 106,724,610 (GRCm39) L511P probably benign Het
Stbd1 A T 5: 92,752,977 (GRCm39) K156* probably null Het
Tenm4 G T 7: 96,545,342 (GRCm39) G2453* probably null Het
Tent4a C T 13: 69,648,199 (GRCm39) G489S probably damaging Het
Tpr A G 1: 150,309,523 (GRCm39) K1760E probably damaging Het
Triobp T A 15: 78,862,923 (GRCm39) L1427Q probably damaging Het
Ucn3 T G 13: 3,991,421 (GRCm39) H77P possibly damaging Het
Wnk2 T A 13: 49,224,567 (GRCm39) D998V probably damaging Het
Xrcc3 A G 12: 111,770,969 (GRCm39) V320A probably damaging Het
Zdbf2 A G 1: 63,345,925 (GRCm39) T1435A possibly damaging Het
Zfp36l2 G T 17: 84,493,861 (GRCm39) H259N possibly damaging Het
Zfp619 A T 7: 39,187,186 (GRCm39) H1072L probably damaging Het
Zfy2 T A Y: 2,107,127 (GRCm39) E502D possibly damaging Het
Zfyve16 G A 13: 92,658,495 (GRCm39) P472L probably benign Het
Other mutations in Uaca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Uaca APN 9 60,779,507 (GRCm39) missense probably benign
IGL01751:Uaca APN 9 60,777,139 (GRCm39) missense probably damaging 1.00
IGL02868:Uaca APN 9 60,770,919 (GRCm39) missense probably damaging 1.00
IGL02977:Uaca APN 9 60,773,662 (GRCm39) missense probably benign 0.00
IGL03037:Uaca APN 9 60,748,147 (GRCm39) missense probably damaging 1.00
IGL03060:Uaca APN 9 60,777,148 (GRCm39) missense probably damaging 1.00
IGL03083:Uaca APN 9 60,770,945 (GRCm39) missense probably benign 0.28
IGL03266:Uaca APN 9 60,770,689 (GRCm39) missense probably damaging 1.00
IGL03346:Uaca APN 9 60,761,600 (GRCm39) missense probably damaging 1.00
Ixtapa UTSW 9 60,777,695 (GRCm39) missense probably damaging 0.99
oaxaca UTSW 9 60,778,733 (GRCm39) missense probably benign
R0408:Uaca UTSW 9 60,779,141 (GRCm39) missense possibly damaging 0.71
R0567:Uaca UTSW 9 60,778,663 (GRCm39) missense probably benign 0.01
R0598:Uaca UTSW 9 60,778,203 (GRCm39) nonsense probably null
R0603:Uaca UTSW 9 60,778,379 (GRCm39) missense possibly damaging 0.60
R0655:Uaca UTSW 9 60,779,311 (GRCm39) missense probably benign 0.03
R0707:Uaca UTSW 9 60,755,900 (GRCm39) splice site probably benign
R0791:Uaca UTSW 9 60,779,341 (GRCm39) missense possibly damaging 0.50
R1466:Uaca UTSW 9 60,761,603 (GRCm39) missense possibly damaging 0.88
R1466:Uaca UTSW 9 60,761,603 (GRCm39) missense possibly damaging 0.88
R1520:Uaca UTSW 9 60,778,663 (GRCm39) missense probably benign 0.30
R1673:Uaca UTSW 9 60,779,438 (GRCm39) missense probably damaging 1.00
R1894:Uaca UTSW 9 60,777,718 (GRCm39) missense possibly damaging 0.87
R1997:Uaca UTSW 9 60,777,623 (GRCm39) missense probably damaging 1.00
R2042:Uaca UTSW 9 60,777,173 (GRCm39) missense probably damaging 1.00
R2095:Uaca UTSW 9 60,748,125 (GRCm39) missense probably benign 0.00
R2148:Uaca UTSW 9 60,776,961 (GRCm39) missense probably damaging 1.00
R2384:Uaca UTSW 9 60,777,199 (GRCm39) missense probably damaging 1.00
R3110:Uaca UTSW 9 60,778,781 (GRCm39) missense probably damaging 1.00
R3112:Uaca UTSW 9 60,778,781 (GRCm39) missense probably damaging 1.00
R4001:Uaca UTSW 9 60,778,366 (GRCm39) missense probably benign 0.04
R4155:Uaca UTSW 9 60,779,035 (GRCm39) missense probably benign 0.02
R4156:Uaca UTSW 9 60,779,035 (GRCm39) missense probably benign 0.02
R4157:Uaca UTSW 9 60,779,035 (GRCm39) missense probably benign 0.02
R4410:Uaca UTSW 9 60,777,173 (GRCm39) missense probably damaging 1.00
R4674:Uaca UTSW 9 60,761,711 (GRCm39) missense possibly damaging 0.94
R4871:Uaca UTSW 9 60,753,283 (GRCm39) missense probably damaging 1.00
R5130:Uaca UTSW 9 60,787,510 (GRCm39) missense probably damaging 0.96
R5328:Uaca UTSW 9 60,777,814 (GRCm39) missense probably benign 0.44
R5358:Uaca UTSW 9 60,778,430 (GRCm39) missense probably benign
R5415:Uaca UTSW 9 60,777,421 (GRCm39) missense possibly damaging 0.65
R5437:Uaca UTSW 9 60,778,733 (GRCm39) missense probably benign
R5647:Uaca UTSW 9 60,779,380 (GRCm39) missense probably benign 0.28
R5710:Uaca UTSW 9 60,779,093 (GRCm39) missense probably damaging 1.00
R5920:Uaca UTSW 9 60,776,885 (GRCm39) missense probably benign 0.19
R5931:Uaca UTSW 9 60,779,294 (GRCm39) missense probably damaging 0.97
R5933:Uaca UTSW 9 60,748,238 (GRCm39) missense probably damaging 1.00
R5959:Uaca UTSW 9 60,778,052 (GRCm39) missense probably damaging 1.00
R6193:Uaca UTSW 9 60,777,326 (GRCm39) missense probably damaging 0.99
R6195:Uaca UTSW 9 60,777,326 (GRCm39) missense probably damaging 0.99
R6242:Uaca UTSW 9 60,777,326 (GRCm39) missense probably damaging 0.99
R6243:Uaca UTSW 9 60,777,326 (GRCm39) missense probably damaging 0.99
R6244:Uaca UTSW 9 60,777,326 (GRCm39) missense probably damaging 0.99
R6274:Uaca UTSW 9 60,757,573 (GRCm39) splice site probably null
R6670:Uaca UTSW 9 60,779,306 (GRCm39) missense probably benign 0.09
R6883:Uaca UTSW 9 60,777,173 (GRCm39) missense probably damaging 1.00
R7111:Uaca UTSW 9 60,779,120 (GRCm39) missense probably benign 0.06
R7146:Uaca UTSW 9 60,777,695 (GRCm39) missense probably damaging 0.99
R7424:Uaca UTSW 9 60,777,392 (GRCm39) missense probably damaging 1.00
R7485:Uaca UTSW 9 60,753,282 (GRCm39) missense probably damaging 1.00
R7510:Uaca UTSW 9 60,757,487 (GRCm39) splice site probably null
R7688:Uaca UTSW 9 60,781,409 (GRCm39) missense probably benign 0.11
R7724:Uaca UTSW 9 60,777,187 (GRCm39) missense probably benign 0.24
R7743:Uaca UTSW 9 60,783,677 (GRCm39) missense probably damaging 0.99
R8556:Uaca UTSW 9 60,777,923 (GRCm39) missense probably damaging 0.97
R8699:Uaca UTSW 9 60,778,347 (GRCm39) missense probably damaging 1.00
R8814:Uaca UTSW 9 60,773,680 (GRCm39) missense possibly damaging 0.82
R8828:Uaca UTSW 9 60,778,852 (GRCm39) missense probably benign 0.00
R9475:Uaca UTSW 9 60,779,498 (GRCm39) missense possibly damaging 0.88
R9477:Uaca UTSW 9 60,778,108 (GRCm39) missense probably benign 0.33
R9509:Uaca UTSW 9 60,779,498 (GRCm39) missense possibly damaging 0.88
X0067:Uaca UTSW 9 60,766,431 (GRCm39) missense possibly damaging 0.69
Z1177:Uaca UTSW 9 60,781,405 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACATGTGAAGTCGAGCTGG -3'
(R):5'- CACCTGCTGGTTGAGAAGTTTG -3'

Sequencing Primer
(F):5'- ACGGGTCGTGGAACTGG -3'
(R):5'- CCTGCTGGTTGAGAAGTTTGTTGTC -3'
Posted On 2019-05-13