Incidental Mutation 'IGL02318:Gm5592'
ID 288115
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 # IGL02318
Quality Score
Status
Chromosome 7
Chromosomal Location 40933751-40939607 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 40936212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 238 (T238N)
Ref Sequence ENSEMBL: ENSMUSP00000145899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097044] [ENSMUST00000206490]
AlphaFold Q3V0A6
Predicted Effect probably benign
Transcript: ENSMUST00000097044
AA Change: T238N

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000094809
Gene: ENSMUSG00000072259
AA Change: T238N

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: ENSMUST00000206040
Predicted Effect probably benign
Transcript: ENSMUST00000206490
AA Change: T238N

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik A G 5: 138,561,838 (GRCm39) F116S probably damaging Het
Abhd18 G A 3: 40,884,662 (GRCm39) probably null Het
Akr1c6 G T 13: 4,488,496 (GRCm39) C34F probably benign Het
Ankef1 T A 2: 136,386,695 (GRCm39) I180N possibly damaging Het
Ap1b1 G A 11: 4,969,294 (GRCm39) V217I probably benign Het
Arhgap27 T C 11: 103,223,989 (GRCm39) Q608R probably benign Het
Arhgap32 A G 9: 32,170,627 (GRCm39) T1136A probably benign Het
Ascc3 T A 10: 50,604,250 (GRCm39) Y1323* probably null Het
Bsx A C 9: 40,785,517 (GRCm39) Q15P probably benign Het
Cdh20 A G 1: 104,881,764 (GRCm39) I410V probably null Het
Cfhr4 T A 1: 139,708,835 (GRCm39) E24D probably benign Het
Col20a1 A G 2: 180,648,952 (GRCm39) D945G probably damaging Het
Cox20 A G 1: 178,150,043 (GRCm39) probably null Het
Cplane1 A G 15: 8,204,509 (GRCm39) K96E probably damaging Het
Cpne9 A G 6: 113,270,699 (GRCm39) D305G possibly damaging Het
Cyp2d12 A G 15: 82,439,444 (GRCm39) T33A probably benign Het
Dvl3 A G 16: 20,342,493 (GRCm39) R149G possibly damaging Het
Dysf A G 6: 84,163,446 (GRCm39) I1624V possibly damaging Het
Echs1 A T 7: 139,691,623 (GRCm39) L167Q probably damaging Het
Ect2 A T 3: 27,192,868 (GRCm39) N358K probably benign Het
Eml4 A G 17: 83,748,795 (GRCm39) I230V probably benign Het
Fut10 A G 8: 31,726,286 (GRCm39) Y347C probably damaging Het
Gfm2 C A 13: 97,299,483 (GRCm39) N401K probably damaging Het
Gm4795 C T 10: 44,882,735 (GRCm39) noncoding transcript Het
Gm9892 T C 8: 52,649,260 (GRCm39) noncoding transcript Het
Greb1l G T 18: 10,469,388 (GRCm39) M134I possibly damaging Het
Grk3 A G 5: 113,085,669 (GRCm39) Y314H probably damaging Het
Hrh2 T C 13: 54,368,669 (GRCm39) I215T probably damaging Het
Ilkap A G 1: 91,312,960 (GRCm39) probably null Het
Inpp4a T C 1: 37,407,384 (GRCm39) Y233H probably damaging Het
Itgb4 G A 11: 115,879,752 (GRCm39) V635I probably damaging Het
Lmo7 C T 14: 102,137,502 (GRCm39) probably benign Het
Luc7l3 C T 11: 94,183,819 (GRCm39) R440Q probably benign Het
Mis18bp1 A C 12: 65,205,515 (GRCm39) I219S probably benign Het
Myo9b G A 8: 71,806,768 (GRCm39) E1581K probably damaging Het
Nfs1 T A 2: 155,966,191 (GRCm39) Q458L probably damaging Het
Numb A T 12: 83,878,692 (GRCm39) probably null Het
Nxf1 G A 19: 8,741,514 (GRCm39) probably null Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Or52z1 A G 7: 103,437,475 (GRCm39) V3A probably benign Het
Pacc1 A G 1: 191,080,605 (GRCm39) E275G possibly damaging Het
Pde2a A T 7: 101,152,550 (GRCm39) Y371F possibly damaging Het
Phlpp2 G T 8: 110,666,505 (GRCm39) L1011F probably benign Het
Potefam3e T C 8: 19,797,815 (GRCm39) probably null Het
Prss27 G T 17: 24,264,571 (GRCm39) V245L probably benign Het
Rbm7 T C 9: 48,405,411 (GRCm39) N56S probably damaging Het
Rftn1 T C 17: 50,343,998 (GRCm39) I97V possibly damaging Het
Ric3 T C 7: 108,647,287 (GRCm39) T178A probably damaging Het
Rock1 A G 18: 10,104,323 (GRCm39) probably benign Het
Sall2 T C 14: 52,553,022 (GRCm39) T56A probably damaging Het
Sgk1 T C 10: 21,871,440 (GRCm39) S60P probably damaging Het
Smarcad1 G A 6: 65,050,223 (GRCm39) A281T probably damaging Het
Spta1 A G 1: 174,002,029 (GRCm39) H53R possibly damaging Het
Thbs4 T C 13: 92,900,092 (GRCm39) D468G probably damaging Het
Tmem108 A T 9: 103,376,981 (GRCm39) V156E probably benign Het
Tnfaip3 T G 10: 18,880,215 (GRCm39) R617S probably benign Het
Traf3 A G 12: 111,204,031 (GRCm39) M7V probably benign Het
Ubr3 T A 2: 69,809,741 (GRCm39) I1237N probably damaging Het
Vmn2r23 T C 6: 123,718,795 (GRCm39) V716A 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
IGL01718:Gm5592 APN 7 40,938,617 (GRCm39) missense probably damaging 0.99
IGL01981:Gm5592 APN 7 40,935,795 (GRCm39) nonsense probably null
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 2015-04-16