Incidental Mutation 'R1083:AI987944'
ID 84922
Institutional Source Beutler Lab
Gene Symbol AI987944
Ensembl Gene ENSMUSG00000056383
Gene Name expressed sequence AI987944
Synonyms
MMRRC Submission 039169-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock # R1083 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 41372923-41393379 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41375339 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 75 (V75A)
Ref Sequence ENSEMBL: ENSMUSP00000145565 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071804] [ENSMUST00000205338] [ENSMUST00000206801]
AlphaFold Q7TPX5
Predicted Effect probably benign
Transcript: ENSMUST00000071804
AA Change: V75A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000071708
Gene: ENSMUSG00000056383
AA Change: V75A

DomainStartEndE-ValueType
KRAB 4 65 8.72e-15 SMART
ZnF_C2H2 74 96 1.24e2 SMART
ZnF_C2H2 130 152 2.43e-4 SMART
ZnF_C2H2 181 203 5.21e-4 SMART
ZnF_C2H2 209 231 3.95e-4 SMART
ZnF_C2H2 237 259 1.95e-3 SMART
ZnF_C2H2 265 287 4.87e-4 SMART
ZnF_C2H2 293 315 1.72e-4 SMART
ZnF_C2H2 321 343 8.47e-4 SMART
ZnF_C2H2 349 371 9.73e-4 SMART
ZnF_C2H2 377 399 3.69e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205338
AA Change: V72A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000206801
AA Change: V75A

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.0%
Validation Efficiency 100% (38/38)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730049H05Rik T C 6: 92,828,065 probably benign Het
Adamts17 G A 7: 67,147,574 C986Y probably damaging Het
Arhgap10 T C 8: 77,517,749 Y12C probably damaging Het
Atp11b G A 3: 35,778,013 probably benign Het
Ccer1 T A 10: 97,694,658 D394E possibly damaging Het
Cdh2 T C 18: 16,643,959 N273S possibly damaging Het
Cfap65 G T 1: 74,918,504 probably benign Het
Crybb3 A T 5: 113,080,578 probably benign Het
D7Ertd443e G A 7: 134,348,934 Q337* probably null Het
Dixdc1 C T 9: 50,676,993 probably benign Het
Dut GCGGC GCGGCCGGC 2: 125,247,828 probably null Het
Fbxo2 A G 4: 148,165,777 probably null Het
Gm5174 T C 10: 86,656,108 noncoding transcript Het
Gpam A G 19: 55,088,211 probably benign Het
Il12a C T 3: 68,695,333 T112M probably damaging Het
Itpr1 T A 6: 108,510,696 V2361D possibly damaging Het
Jag1 G A 2: 137,096,232 L283F probably damaging Het
Lamb2 A C 9: 108,483,693 D538A probably benign Het
Map10 T A 8: 125,670,439 C190* probably null Het
Pcnx2 C T 8: 125,772,104 R1552H probably damaging Het
Phf1 T C 17: 26,937,270 probably benign Het
Pitx2 A G 3: 129,218,769 T276A probably damaging Het
Pparg A G 6: 115,490,146 D490G probably damaging Het
Rnf10 A T 5: 115,260,104 probably benign Het
Sbp T C 17: 23,942,730 probably benign Het
Setbp1 A T 18: 78,857,626 L942H probably damaging Het
Sf3b1 C G 1: 55,019,395 E12Q possibly damaging Het
Sfmbt1 A T 14: 30,787,541 N326Y possibly damaging Het
Slx4 G A 16: 3,990,910 Q389* probably null Het
Srrm3 T A 5: 135,854,409 V206E probably damaging Het
Sspo T A 6: 48,470,999 D2270E possibly damaging Het
Sulf1 AAGGGA AAGGGAGGGA 1: 12,836,164 probably null Het
Vmn1r14 T A 6: 57,234,199 I210N probably damaging Het
Wasf3 T G 5: 146,435,372 L13R probably damaging Het
Yes1 T C 5: 32,651,757 probably null Het
Zfp292 T C 4: 34,807,569 D1830G probably damaging Het
Zfp541 A G 7: 16,078,712 N430S probably benign Het
Other mutations in AI987944
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03350:AI987944 APN 7 41393237 utr 5 prime probably benign
G1citation:AI987944 UTSW 7 41374808 missense probably damaging 1.00
R0744:AI987944 UTSW 7 41376859 missense probably damaging 1.00
R1480:AI987944 UTSW 7 41374919 missense probably benign 0.00
R1485:AI987944 UTSW 7 41374530 nonsense probably null
R1491:AI987944 UTSW 7 41374348 nonsense probably null
R1662:AI987944 UTSW 7 41374449 missense possibly damaging 0.79
R1892:AI987944 UTSW 7 41374596 missense probably damaging 1.00
R1906:AI987944 UTSW 7 41375126 missense probably benign 0.02
R2037:AI987944 UTSW 7 41374391 missense probably benign 0.04
R2092:AI987944 UTSW 7 41374617 missense possibly damaging 0.58
R2202:AI987944 UTSW 7 41374526 missense probably damaging 0.98
R5070:AI987944 UTSW 7 41375324 missense probably benign 0.23
R5421:AI987944 UTSW 7 41374776 missense probably benign 0.02
R5531:AI987944 UTSW 7 41374390 nonsense probably null
R6822:AI987944 UTSW 7 41374808 missense probably damaging 1.00
R7039:AI987944 UTSW 7 41374456 missense probably benign
R8133:AI987944 UTSW 7 41375065 critical splice donor site probably null
R8228:AI987944 UTSW 7 41376836 missense probably damaging 1.00
R8342:AI987944 UTSW 7 41374886 missense probably benign 0.01
R8826:AI987944 UTSW 7 41375203 missense possibly damaging 0.95
Predicted Primers
Posted On 2013-11-18