Incidental Mutation 'R5643:Gm14403'
ID440825
Institutional Source Beutler Lab
Gene Symbol Gm14403
Ensembl Gene ENSMUSG00000094786
Gene Namepredicted gene 14403
Synonyms
MMRRC Submission 043291-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.136) question?
Stock #R5643 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location177498215-177509763 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 177507261 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 50 (H50L)
Ref Sequence ENSEMBL: ENSMUSP00000104575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108940] [ENSMUST00000108947]
Predicted Effect probably benign
Transcript: ENSMUST00000108940
SMART Domains Protein: ENSMUSP00000104568
Gene: ENSMUSG00000094786

DomainStartEndE-ValueType
internal_repeat_1 1 73 1.34e-11 PROSPERO
internal_repeat_1 169 241 1.34e-11 PROSPERO
Predicted Effect possibly damaging
Transcript: ENSMUST00000108947
AA Change: H50L

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104575
Gene: ENSMUSG00000094786
AA Change: H50L

DomainStartEndE-ValueType
KRAB 4 66 4.86e-13 SMART
ZnF_C2H2 76 97 2.31e2 SMART
ZnF_C2H2 103 125 1.2e-3 SMART
ZnF_C2H2 131 153 1.18e-2 SMART
ZnF_C2H2 159 179 4.57e0 SMART
ZnF_C2H2 187 209 5.59e-4 SMART
ZnF_C2H2 215 237 1.12e-3 SMART
ZnF_C2H2 243 265 1.18e-2 SMART
ZnF_C2H2 271 293 8.6e-5 SMART
ZnF_C2H2 299 321 3.16e-3 SMART
ZnF_C2H2 327 349 1.84e-4 SMART
ZnF_C2H2 355 377 3.44e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142549
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 94% (110/117)
Allele List at MGI
Other mutations in this stock
Total: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 9,010,657 K3102E possibly damaging Het
Akap13 T C 7: 75,702,154 probably null Het
Akp3 A T 1: 87,127,763 T511S unknown Het
Alkal2 T A 12: 30,884,890 L36Q probably damaging Het
Arhgef17 A T 7: 100,880,011 V523E probably damaging Het
Asah1 G T 8: 41,360,295 T27K possibly damaging Het
Bag2 A G 1: 33,746,953 V96A probably damaging Het
Bicd1 C T 6: 149,520,403 A874V probably damaging Het
C4b T C 17: 34,742,417 I189M probably benign Het
Calcr A G 6: 3,708,538 I216T probably damaging Het
Cdk5rap2 T A 4: 70,266,733 D1160V probably damaging Het
Cep128 A T 12: 91,348,851 I87K probably damaging Het
Cep170b C G 12: 112,740,841 H1256Q probably benign Het
Chd2 A T 7: 73,484,484 V705E probably damaging Het
Clec12b T A 6: 129,379,960 I172L probably benign Het
Cobl A T 11: 12,306,948 probably benign Het
Col5a2 T A 1: 45,390,042 D972V probably damaging Het
Csrp1 A T 1: 135,751,059 N174I probably damaging Het
Dnah7a T A 1: 53,405,707 H3946L probably benign Het
Dnajc21 A T 15: 10,461,915 D133E probably benign Het
Dvl3 T A 16: 20,526,276 I353N probably damaging Het
Elavl3 A T 9: 22,018,733 S292T probably benign Het
Ephb2 T C 4: 136,771,612 N52S probably damaging Het
Gaa T A 11: 119,280,535 M671K possibly damaging Het
Gabrg3 T C 7: 56,773,284 D222G possibly damaging Het
Gk5 C T 9: 96,140,656 Q182* probably null Het
Gzma T C 13: 113,098,260 T66A probably damaging Het
Hint2 T C 4: 43,656,445 probably benign Het
Hnmt A T 2: 24,014,239 W137R probably damaging Het
Hoga1 T C 19: 42,059,963 V90A probably benign Het
Idua A T 5: 108,680,224 probably benign Het
Kif1a A C 1: 93,055,767 S669R probably damaging Het
Klhdc7b A T 15: 89,387,659 M915L possibly damaging Het
Klhl41 A G 2: 69,670,471 Y92C probably damaging Het
Klrc2 A T 6: 129,656,457 C186S probably damaging Het
Lmo7 A G 14: 101,929,336 probably benign Het
Lrriq1 T C 10: 103,215,440 M484V probably benign Het
Lzts1 A G 8: 69,139,077 S140P possibly damaging Het
Mgat5b T A 11: 116,973,400 V464E probably damaging Het
Mms19 A T 19: 41,955,866 D298E possibly damaging Het
Muc5ac T C 7: 141,793,715 probably null Het
Mycbp2 T A 14: 103,287,334 K597I probably damaging Het
Myo18a C A 11: 77,854,687 D1619E probably benign Het
Nfx1 T C 4: 40,984,973 W366R probably null Het
Nipbl C T 15: 8,358,907 V410I probably benign Het
Olfr1037 T C 2: 86,085,159 N206S probably damaging Het
Olfr116 T A 17: 37,624,432 I68F probably benign Het
Olfr1188 T A 2: 88,559,505 M1K probably null Het
Olfr1313 A T 2: 112,071,668 M305K probably benign Het
Olfr1443 A T 19: 12,680,972 Y288F probably damaging Het
Olfr648 T C 7: 104,179,884 I175V probably benign Het
Olfr850 A T 9: 19,477,557 M231K probably benign Het
Otog A T 7: 46,287,447 T1527S probably damaging Het
P2ry12 A T 3: 59,218,095 M53K possibly damaging Het
Pask A G 1: 93,337,343 probably null Het
Pcca G A 14: 122,887,069 C684Y probably damaging Het
Pcdhb10 A G 18: 37,413,166 T432A possibly damaging Het
Peak1 T C 9: 56,258,755 N630D probably damaging Het
Plbd2 A T 5: 120,493,166 probably null Het
Plekhg5 T C 4: 152,104,340 V200A probably benign Het
Pola2 A G 19: 5,961,170 V42A probably benign Het
Ppfibp2 T A 7: 107,737,890 W572R probably damaging Het
Ppp6r1 C T 7: 4,633,772 E679K probably benign Het
Pramef6 A T 4: 143,895,767 H339Q probably damaging Het
Prdx3 G A 19: 60,871,525 A70V probably damaging Het
Prkd2 T C 7: 16,843,792 F57L probably benign Het
Prodh2 A G 7: 30,506,746 T324A possibly damaging Het
Ptdss1 T C 13: 66,972,540 F267L probably damaging Het
Rai14 T A 15: 10,593,051 H169L probably benign Het
Rere A G 4: 150,617,243 H1360R probably damaging Het
Rfc3 C T 5: 151,649,979 V40I probably benign Het
Rims1 T A 1: 22,538,509 T219S probably damaging Het
Rnf169 T C 7: 99,927,131 R289G possibly damaging Het
Senp7 T C 16: 56,184,149 silent Het
Sfmbt2 A T 2: 10,568,373 I571F probably damaging Het
Slc11a2 C A 15: 100,403,187 K328N probably benign Het
Slc25a10 A G 11: 120,496,376 probably benign Het
Slc38a8 T C 8: 119,480,749 *433W probably null Het
Slco1a5 A C 6: 142,237,594 probably null Het
Smc6 T A 12: 11,289,994 N434K probably benign Het
Syndig1 A T 2: 149,899,508 I5F possibly damaging Het
Syt5 T C 7: 4,543,019 Q124R probably benign Het
Taok3 A C 5: 117,206,720 M171L probably benign Het
Tbrg1 T C 9: 37,649,413 D389G probably benign Het
Tcaf2 G A 6: 42,642,773 R107C possibly damaging Het
Tex14 C A 11: 87,535,626 H1159Q probably damaging Het
Tmprss11d T A 5: 86,326,529 M190L probably benign Het
Ttn T A 2: 76,938,523 T2856S probably damaging Het
Ubr4 T A 4: 139,444,687 M2997K probably damaging Het
Unc5c C T 3: 141,678,125 A88V probably damaging Het
Use1 T C 8: 71,367,754 probably benign Het
Vmn1r43 T C 6: 89,870,372 N44S probably damaging Het
Vmn1r89 T A 7: 13,220,219 V294D possibly damaging Het
Vmn2r11 A T 5: 109,047,003 V819E probably damaging Het
Vmn2r120 T A 17: 57,524,977 M271L probably benign Het
Vmn2r52 T C 7: 10,171,132 Y260C probably damaging Het
Vmn2r67 T A 7: 85,149,943 R519* probably null Het
Vmn2r69 T A 7: 85,407,196 D578V probably damaging Het
Vmn2r85 T C 10: 130,426,474 Y132C probably damaging Het
Wdr74 T A 19: 8,737,876 V133E probably damaging Het
Zfp318 T A 17: 46,409,244 probably benign Het
Zfp810 A T 9: 22,283,171 S74T probably benign Het
Other mutations in Gm14403
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01835:Gm14403 APN 2 177507256 missense probably damaging 0.99
IGL02660:Gm14403 APN 2 177509464 missense probably damaging 1.00
R0492:Gm14403 UTSW 2 177508566 missense probably benign 0.09
R0932:Gm14403 UTSW 2 177507017 missense probably benign 0.01
R0975:Gm14403 UTSW 2 177509424 missense probably damaging 1.00
R1468:Gm14403 UTSW 2 177507231 splice site probably benign
R1853:Gm14403 UTSW 2 177509139 missense probably damaging 1.00
R3011:Gm14403 UTSW 2 177508993 missense probably benign
R3803:Gm14403 UTSW 2 177508776 missense probably benign 0.04
R4589:Gm14403 UTSW 2 177508635 missense probably benign 0.29
R4805:Gm14403 UTSW 2 177508699 missense probably damaging 0.97
R5085:Gm14403 UTSW 2 177508489 missense probably benign 0.04
R5311:Gm14403 UTSW 2 177509655 unclassified probably benign
R5425:Gm14403 UTSW 2 177509655 unclassified probably benign
R5644:Gm14403 UTSW 2 177507261 missense possibly damaging 0.87
R5739:Gm14403 UTSW 2 177509247 missense probably damaging 1.00
R5982:Gm14403 UTSW 2 177508552 missense probably damaging 0.98
R6197:Gm14403 UTSW 2 177509655 unclassified probably benign
R6198:Gm14403 UTSW 2 177509655 unclassified probably benign
R6892:Gm14403 UTSW 2 177509247 missense probably damaging 1.00
R7090:Gm14403 UTSW 2 177509321 missense possibly damaging 0.87
R7168:Gm14403 UTSW 2 177509525 missense probably damaging 0.96
R7510:Gm14403 UTSW 2 177508610 missense probably benign 0.01
R7623:Gm14403 UTSW 2 177508612 missense probably benign
Predicted Primers PCR Primer
(F):5'- TCAGAAGAGTCTCTACAAAGGTGTG -3'
(R):5'- GACACTCGTACTTGTACAGCATGA -3'

Sequencing Primer
(F):5'- TGATGCTAGAGACCCATAGGAATCTC -3'
(R):5'- GTACAGCATGACTCTACTAGGCTTG -3'
Posted On2016-11-08