Incidental Mutation 'IGL01571:Gm5431'
ID 93309
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm5431
Ensembl Gene ENSMUSG00000058163
Gene Name predicted gene 5431
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL01571
Quality Score
Status
Chromosome 11
Chromosomal Location 48778249-48792979 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 48785540 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 278 (D278E)
Ref Sequence ENSEMBL: ENSMUSP00000104835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109209] [ENSMUST00000109210] [ENSMUST00000109212]
AlphaFold Q5NCB3
Predicted Effect probably benign
Transcript: ENSMUST00000109209
SMART Domains Protein: ENSMUSP00000104832
Gene: ENSMUSG00000058163

DomainStartEndE-ValueType
Pfam:IIGP 1 120 1.6e-22 PFAM
low complexity region 153 166 N/A INTRINSIC
Pfam:IIGP 169 542 9.4e-154 PFAM
Pfam:MMR_HSR1 205 359 1.5e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109210
SMART Domains Protein: ENSMUSP00000104833
Gene: ENSMUSG00000058163

DomainStartEndE-ValueType
Pfam:IIGP 1 120 1.6e-22 PFAM
low complexity region 153 166 N/A INTRINSIC
Pfam:IIGP 169 542 9.4e-154 PFAM
Pfam:MMR_HSR1 205 359 1.5e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109212
AA Change: D278E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000104835
Gene: ENSMUSG00000058163
AA Change: D278E

DomainStartEndE-ValueType
Pfam:IIGP 36 398 2.5e-125 PFAM
Pfam:DLIC 54 107 3.4e-5 PFAM
Pfam:MMR_HSR1 72 235 1.7e-11 PFAM
low complexity region 431 444 N/A INTRINSIC
Pfam:IIGP 447 820 6.3e-153 PFAM
Pfam:MMR_HSR1 483 606 2.4e-7 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 T A 9: 21,450,377 (GRCm39) probably benign Het
Cep164 T C 9: 45,705,636 (GRCm39) Q127R possibly damaging Het
Ces1f T A 8: 93,984,996 (GRCm39) M444L probably benign Het
Chd5 T A 4: 152,468,572 (GRCm39) probably benign Het
Cpd T A 11: 76,673,122 (GRCm39) Y1341F probably damaging Het
Cryz T C 3: 154,327,380 (GRCm39) I268T probably damaging Het
Csnk2a1 G A 2: 152,117,326 (GRCm39) R278H probably damaging Het
Cyp4a12b A G 4: 115,295,354 (GRCm39) I487V probably benign Het
Dnajb5 T C 4: 42,956,516 (GRCm39) probably benign Het
Dxo A T 17: 35,058,016 (GRCm39) H214L probably damaging Het
Etfb T C 7: 43,102,383 (GRCm39) probably null Het
G6pc2 G A 2: 69,053,311 (GRCm39) V122I probably damaging Het
Gstt2 C T 10: 75,670,005 (GRCm39) probably benign Het
Hnf4g A C 3: 3,716,326 (GRCm39) probably benign Het
Ifi44 T C 3: 151,451,174 (GRCm39) D259G probably damaging Het
Klk1 T C 7: 43,878,020 (GRCm39) V92A probably damaging Het
Lypla1 T C 1: 4,915,211 (GRCm39) I222T probably benign Het
Nbeal2 T C 9: 110,461,826 (GRCm39) N1510D possibly damaging Het
Ndufaf7 A G 17: 79,251,281 (GRCm39) R229G probably damaging Het
Nphp4 G A 4: 152,640,839 (GRCm39) V1069M probably benign Het
Nsd2 A G 5: 34,022,031 (GRCm39) H528R probably benign Het
Or10p21 A T 10: 128,847,696 (GRCm39) I181F probably damaging Het
Or4k48 C A 2: 111,475,725 (GRCm39) V206L probably benign Het
Or7a39 A G 10: 78,715,671 (GRCm39) I222V possibly damaging Het
Pigh A C 12: 79,132,634 (GRCm39) probably benign Het
Prr14l A T 5: 32,986,150 (GRCm39) M1115K probably benign Het
Psg21 T C 7: 18,388,750 (GRCm39) D114G probably damaging Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Pygb T C 2: 150,672,393 (GRCm39) S831P probably benign Het
Ryr2 T A 13: 11,736,647 (GRCm39) D2260V probably damaging Het
Sgo2a T C 1: 58,057,133 (GRCm39) S1106P probably damaging Het
Slc5a5 G A 8: 71,343,976 (GRCm39) probably benign Het
Tekt4 A G 17: 25,695,358 (GRCm39) D397G probably benign Het
Trrap T A 5: 144,770,097 (GRCm39) probably benign Het
Upf2 T C 2: 6,023,750 (GRCm39) probably benign Het
Usp17lb A T 7: 104,489,588 (GRCm39) N445K possibly damaging Het
Vmn2r111 A G 17: 22,790,373 (GRCm39) V211A probably damaging Het
Vmn2r23 A G 6: 123,681,366 (GRCm39) I91M probably damaging Het
Vps13b C T 15: 35,877,635 (GRCm39) probably benign Het
Zc3hc1 G A 6: 30,390,862 (GRCm39) T47I probably benign Het
Other mutations in Gm5431
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Gm5431 APN 11 48,786,241 (GRCm39) missense probably benign 0.09
IGL00964:Gm5431 APN 11 48,780,094 (GRCm39) missense probably damaging 0.99
IGL02006:Gm5431 APN 11 48,779,330 (GRCm39) missense probably damaging 1.00
IGL02084:Gm5431 APN 11 48,779,912 (GRCm39) missense probably benign 0.41
IGL02255:Gm5431 APN 11 48,779,785 (GRCm39) missense possibly damaging 0.93
IGL02291:Gm5431 APN 11 48,779,791 (GRCm39) missense probably damaging 1.00
IGL03194:Gm5431 APN 11 48,786,364 (GRCm39) intron probably benign
IGL03251:Gm5431 APN 11 48,785,548 (GRCm39) missense probably benign 0.00
R1168:Gm5431 UTSW 11 48,786,191 (GRCm39) missense probably benign 0.36
R1387:Gm5431 UTSW 11 48,785,842 (GRCm39) missense possibly damaging 0.92
R1396:Gm5431 UTSW 11 48,786,261 (GRCm39) intron probably benign
R1711:Gm5431 UTSW 11 48,785,853 (GRCm39) missense possibly damaging 0.73
R1750:Gm5431 UTSW 11 48,785,658 (GRCm39) missense probably benign 0.01
R1927:Gm5431 UTSW 11 48,780,082 (GRCm39) missense probably damaging 1.00
R1957:Gm5431 UTSW 11 48,779,224 (GRCm39) nonsense probably null
R2196:Gm5431 UTSW 11 48,780,058 (GRCm39) missense probably damaging 1.00
R2509:Gm5431 UTSW 11 48,779,536 (GRCm39) missense probably benign 0.16
R2511:Gm5431 UTSW 11 48,779,536 (GRCm39) missense probably benign 0.16
R4018:Gm5431 UTSW 11 48,779,995 (GRCm39) missense probably damaging 1.00
R4859:Gm5431 UTSW 11 48,780,409 (GRCm39) missense probably damaging 1.00
R4895:Gm5431 UTSW 11 48,779,855 (GRCm39) missense probably damaging 0.98
R5124:Gm5431 UTSW 11 48,779,866 (GRCm39) missense probably benign 0.31
R5311:Gm5431 UTSW 11 48,779,716 (GRCm39) missense probably damaging 1.00
R5600:Gm5431 UTSW 11 48,785,583 (GRCm39) missense possibly damaging 0.56
R5728:Gm5431 UTSW 11 48,779,440 (GRCm39) missense probably damaging 1.00
R5731:Gm5431 UTSW 11 48,785,275 (GRCm39) missense probably damaging 0.96
R6120:Gm5431 UTSW 11 48,785,608 (GRCm39) missense probably benign 0.36
R6129:Gm5431 UTSW 11 48,780,418 (GRCm39) missense probably damaging 1.00
R6169:Gm5431 UTSW 11 48,779,402 (GRCm39) missense probably benign 0.29
R6192:Gm5431 UTSW 11 48,785,220 (GRCm39) missense probably benign 0.01
R6253:Gm5431 UTSW 11 48,785,826 (GRCm39) missense probably benign 0.00
R6326:Gm5431 UTSW 11 48,780,172 (GRCm39) missense probably damaging 1.00
R6401:Gm5431 UTSW 11 48,779,536 (GRCm39) missense probably benign 0.16
R6654:Gm5431 UTSW 11 48,785,427 (GRCm39) missense possibly damaging 0.91
R6810:Gm5431 UTSW 11 48,779,803 (GRCm39) missense probably damaging 1.00
R6965:Gm5431 UTSW 11 48,786,027 (GRCm39) missense probably benign 0.19
R6970:Gm5431 UTSW 11 48,779,317 (GRCm39) missense probably damaging 1.00
R7269:Gm5431 UTSW 11 48,779,237 (GRCm39) missense probably benign
R7770:Gm5431 UTSW 11 48,779,285 (GRCm39) missense probably benign 0.02
R8260:Gm5431 UTSW 11 48,785,556 (GRCm39) missense probably benign 0.01
R8385:Gm5431 UTSW 11 48,780,347 (GRCm39) missense probably damaging 1.00
R9058:Gm5431 UTSW 11 48,786,049 (GRCm39) missense probably benign 0.09
R9127:Gm5431 UTSW 11 48,779,600 (GRCm39) nonsense probably null
R9138:Gm5431 UTSW 11 48,780,498 (GRCm39) missense probably benign 0.05
R9355:Gm5431 UTSW 11 48,785,275 (GRCm39) missense probably damaging 0.96
R9655:Gm5431 UTSW 11 48,785,799 (GRCm39) missense probably benign 0.00
Posted On 2013-12-09