Incidental Mutation 'IGL01718:Gm5592'
ID 104992
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm5592
Ensembl Gene ENSMUSG00000072259
Gene Name predicted gene 5592
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL01718
Quality Score
Status
Chromosome 7
Chromosomal Location 40933751-40939607 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40938617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 633 (E633G)
Ref Sequence ENSEMBL: ENSMUSP00000145899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097044] [ENSMUST00000206490]
AlphaFold Q3V0A6
Predicted Effect probably damaging
Transcript: ENSMUST00000097044
AA Change: E633G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000094809
Gene: ENSMUSG00000072259
AA Change: E633G

DomainStartEndE-ValueType
Pfam:DUF4629 435 580 6.1e-60 PFAM
low complexity region 607 612 N/A INTRINSIC
low complexity region 708 725 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187120
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206040
Predicted Effect probably damaging
Transcript: ENSMUST00000206490
AA Change: E633G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a3 A G 7: 66,049,953 (GRCm39) F422L possibly damaging Het
Ap2m1 T C 16: 20,360,944 (GRCm39) probably benign Het
Asic1 A G 15: 99,569,883 (GRCm39) Y68C probably damaging Het
Ccdc18 A G 5: 108,349,214 (GRCm39) D1002G possibly damaging Het
Cyp2c29 A T 19: 39,318,704 (GRCm39) I434F possibly damaging Het
Diaph3 T A 14: 86,893,774 (GRCm39) R78S unknown Het
Dnase1l2 T C 17: 24,660,690 (GRCm39) D188G possibly damaging Het
Exosc9 T C 3: 36,608,078 (GRCm39) probably benign Het
Fgf23 G A 6: 127,057,436 (GRCm39) V251I probably benign Het
Fndc3c1 T C X: 105,489,534 (GRCm39) T296A probably benign Het
Gpr155 T C 2: 73,212,576 (GRCm39) M16V probably benign Het
Jakmip3 T G 7: 138,591,121 (GRCm39) S2A possibly damaging Het
Lrba T A 3: 86,258,555 (GRCm39) N1347K probably damaging Het
Mars1 T C 10: 127,141,707 (GRCm39) R266G possibly damaging Het
Mplkipl1 A G 19: 61,164,199 (GRCm39) S79P probably damaging Het
Mrgpra1 A T 7: 46,985,675 (GRCm39) probably null Het
Or7g20 T A 9: 18,946,584 (GRCm39) L55* probably null Het
Pdzk1ip1 T A 4: 114,950,111 (GRCm39) probably benign Het
Ppid G T 3: 79,500,986 (GRCm39) C52F probably damaging Het
Reln A G 5: 22,152,512 (GRCm39) I2318T possibly damaging Het
Rhpn2 G A 7: 35,070,179 (GRCm39) D146N probably benign Het
Tspoap1 G T 11: 87,671,081 (GRCm39) R1670L possibly damaging Het
Ttc22 G A 4: 106,495,773 (GRCm39) V376M probably damaging Het
Ttn T A 2: 76,560,746 (GRCm39) L29218F probably damaging Het
Ttn A T 2: 76,560,748 (GRCm39) L29218I probably damaging Het
Zfp609 G A 9: 65,609,682 (GRCm39) Q1094* probably null Het
Zfp831 C T 2: 174,485,631 (GRCm39) T102I possibly damaging Het
Zglp1 C T 9: 20,974,675 (GRCm39) C171Y probably benign Het
Other mutations in Gm5592
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Gm5592 APN 7 40,938,519 (GRCm39) missense probably damaging 1.00
IGL01472:Gm5592 APN 7 40,935,498 (GRCm39) splice site probably benign
IGL01981:Gm5592 APN 7 40,935,795 (GRCm39) nonsense probably null
IGL02318:Gm5592 APN 7 40,936,212 (GRCm39) missense probably benign 0.37
IGL02346:Gm5592 APN 7 40,938,889 (GRCm39) missense probably damaging 0.97
IGL02904:Gm5592 APN 7 40,937,810 (GRCm39) missense probably damaging 1.00
I1329:Gm5592 UTSW 7 40,935,778 (GRCm39) nonsense probably null
R0465:Gm5592 UTSW 7 40,805,481 (GRCm39) intron probably benign
R0669:Gm5592 UTSW 7 40,805,254 (GRCm39) intron probably benign
R0675:Gm5592 UTSW 7 40,938,811 (GRCm39) missense possibly damaging 0.81
R1381:Gm5592 UTSW 7 40,935,596 (GRCm39) missense probably benign
R1731:Gm5592 UTSW 7 40,937,837 (GRCm39) missense probably damaging 0.99
R3149:Gm5592 UTSW 7 40,937,804 (GRCm39) missense probably benign 0.00
R3150:Gm5592 UTSW 7 40,937,804 (GRCm39) missense probably benign 0.00
R3176:Gm5592 UTSW 7 40,937,804 (GRCm39) missense probably benign 0.00
R3177:Gm5592 UTSW 7 40,937,804 (GRCm39) missense probably benign 0.00
R3276:Gm5592 UTSW 7 40,937,804 (GRCm39) missense probably benign 0.00
R3277:Gm5592 UTSW 7 40,937,804 (GRCm39) missense probably benign 0.00
R3623:Gm5592 UTSW 7 40,807,052 (GRCm39) intron probably benign
R3797:Gm5592 UTSW 7 40,807,259 (GRCm39) intron probably benign
R3854:Gm5592 UTSW 7 40,807,259 (GRCm39) intron probably benign
R3856:Gm5592 UTSW 7 40,807,259 (GRCm39) intron probably benign
R4009:Gm5592 UTSW 7 40,938,934 (GRCm39) missense probably benign 0.01
R4010:Gm5592 UTSW 7 40,936,052 (GRCm39) missense probably benign 0.05
R4011:Gm5592 UTSW 7 40,938,934 (GRCm39) missense probably benign 0.01
R4127:Gm5592 UTSW 7 40,938,491 (GRCm39) missense probably benign 0.00
R4162:Gm5592 UTSW 7 40,867,202 (GRCm39) intron probably benign
R4289:Gm5592 UTSW 7 40,808,336 (GRCm39) intron probably benign
R4304:Gm5592 UTSW 7 40,935,686 (GRCm39) missense probably benign 0.20
R4332:Gm5592 UTSW 7 40,865,542 (GRCm39) intron probably benign
R4408:Gm5592 UTSW 7 40,935,872 (GRCm39) missense probably benign 0.04
R4572:Gm5592 UTSW 7 40,865,583 (GRCm39) intron probably benign
R4764:Gm5592 UTSW 7 40,865,542 (GRCm39) intron probably benign
R4822:Gm5592 UTSW 7 40,805,314 (GRCm39) intron probably benign
R4836:Gm5592 UTSW 7 40,864,958 (GRCm39) intron probably benign
R4854:Gm5592 UTSW 7 40,866,895 (GRCm39) intron probably benign
R5032:Gm5592 UTSW 7 40,939,159 (GRCm39) missense probably damaging 1.00
R5075:Gm5592 UTSW 7 40,808,387 (GRCm39) intron probably benign
R5369:Gm5592 UTSW 7 40,867,635 (GRCm39) intron probably benign
R5424:Gm5592 UTSW 7 40,805,017 (GRCm39) intron probably benign
R5700:Gm5592 UTSW 7 40,808,003 (GRCm39) intron probably benign
R5741:Gm5592 UTSW 7 40,938,625 (GRCm39) missense probably benign
R5802:Gm5592 UTSW 7 40,868,529 (GRCm39) intron probably benign
R5945:Gm5592 UTSW 7 40,865,036 (GRCm39) intron probably benign
R6117:Gm5592 UTSW 7 40,937,888 (GRCm39) missense probably benign 0.00
R6324:Gm5592 UTSW 7 40,935,959 (GRCm39) missense probably damaging 0.98
R6449:Gm5592 UTSW 7 40,938,010 (GRCm39) missense probably benign 0.09
R6571:Gm5592 UTSW 7 40,937,999 (GRCm39) missense probably damaging 0.98
R6776:Gm5592 UTSW 7 40,939,153 (GRCm39) missense probably damaging 1.00
R7595:Gm5592 UTSW 7 40,935,867 (GRCm39) missense probably damaging 0.99
R7658:Gm5592 UTSW 7 40,938,134 (GRCm39) missense probably benign 0.03
R7699:Gm5592 UTSW 7 40,935,831 (GRCm39) missense probably damaging 1.00
R7700:Gm5592 UTSW 7 40,935,831 (GRCm39) missense probably damaging 1.00
R7774:Gm5592 UTSW 7 40,939,283 (GRCm39) missense probably damaging 1.00
R7788:Gm5592 UTSW 7 40,936,118 (GRCm39) missense probably benign 0.01
R7890:Gm5592 UTSW 7 40,936,183 (GRCm39) missense probably damaging 1.00
R8070:Gm5592 UTSW 7 40,935,887 (GRCm39) missense possibly damaging 0.76
R8417:Gm5592 UTSW 7 40,937,975 (GRCm39) missense probably benign 0.38
R8866:Gm5592 UTSW 7 40,938,246 (GRCm39) missense possibly damaging 0.74
R9044:Gm5592 UTSW 7 40,938,274 (GRCm39) missense probably benign 0.25
R9057:Gm5592 UTSW 7 40,938,887 (GRCm39) missense possibly damaging 0.93
R9258:Gm5592 UTSW 7 40,938,407 (GRCm39) missense possibly damaging 0.56
R9451:Gm5592 UTSW 7 40,935,876 (GRCm39) missense probably damaging 0.99
R9760:Gm5592 UTSW 7 40,939,234 (GRCm39) missense possibly damaging 0.57
X0021:Gm5592 UTSW 7 40,937,932 (GRCm39) missense probably benign 0.01
Z1176:Gm5592 UTSW 7 40,938,105 (GRCm39) missense probably benign 0.00
Z1176:Gm5592 UTSW 7 40,935,743 (GRCm39) missense possibly damaging 0.94
Z1176:Gm5592 UTSW 7 40,935,741 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21