Incidental Mutation 'IGL03267:Gm597'
ID415105
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm597
Ensembl Gene ENSMUSG00000048411
Gene Namepredicted gene 597
SynonymsLOC210962
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.015) question?
Stock #IGL03267
Quality Score
Status
Chromosome1
Chromosomal Location28776117-28780252 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 28777121 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 610 (T610I)
Ref Sequence ENSEMBL: ENSMUSP00000058140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059937]
Predicted Effect probably damaging
Transcript: ENSMUST00000059937
AA Change: T610I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: T610I

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
low complexity region 112 129 N/A INTRINSIC
Pfam:FAM75 137 472 8.1e-14 PFAM
low complexity region 664 675 N/A INTRINSIC
internal_repeat_1 718 807 1.4e-5 PROSPERO
internal_repeat_1 807 894 1.4e-5 PROSPERO
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 C T 5: 121,637,349 R430Q probably benign Het
Arfgef3 T A 10: 18,591,882 I1857F probably damaging Het
Baat T A 4: 49,490,050 M345L probably benign Het
Babam1 T G 8: 71,403,064 probably null Het
Bbs7 A G 3: 36,573,505 F711S probably damaging Het
Btrc A G 19: 45,518,823 E458G probably damaging Het
Car6 T C 4: 150,196,046 probably benign Het
Celsr3 T C 9: 108,836,525 probably benign Het
Csn2 A G 5: 87,698,071 V3A possibly damaging Het
Ddc T C 11: 11,876,303 Y86C probably damaging Het
Dennd1b A T 1: 139,062,861 R188* probably null Het
Dnah1 C A 14: 31,286,588 A2046S probably benign Het
Eif2b4 A T 5: 31,192,659 S20T possibly damaging Het
Etl4 T A 2: 20,785,182 C916* probably null Het
Fam78a T C 2: 32,069,667 I144V probably benign Het
Fcho1 A G 8: 71,712,299 probably benign Het
Gm4981 T C 10: 58,235,787 T202A probably damaging Het
Il9r T A 11: 32,191,778 H320L possibly damaging Het
Kntc1 C T 5: 123,758,480 T135M probably damaging Het
Lca5l T A 16: 96,159,783 Q498L probably benign Het
Map4k3 T C 17: 80,664,028 H70R probably damaging Het
Mrps26 A G 2: 130,564,936 probably null Het
Olfr1057 A T 2: 86,374,634 Y259* probably null Het
Olfr352 G T 2: 36,870,501 A312S probably benign Het
Olfr729 A G 14: 50,148,847 V9A probably damaging Het
Pik3cg C A 12: 32,205,308 G227C possibly damaging Het
Ptprn2 C T 12: 116,876,344 Q496* probably null Het
Rif1 T G 2: 52,076,988 N96K possibly damaging Het
Rreb1 A C 13: 37,932,193 D1176A probably benign Het
Slc22a30 A G 19: 8,337,958 I436T probably benign Het
Slc51a G A 16: 32,478,750 R110C probably damaging Het
Stab1 A G 14: 31,142,729 C1950R probably damaging Het
Tns2 T C 15: 102,105,378 probably null Het
Ttf2 G A 3: 100,944,804 R1009* probably null Het
Wfdc16 A G 2: 164,638,542 V11A possibly damaging Het
Zfp367 A G 13: 64,144,283 probably benign Het
Zfp420 G A 7: 29,875,483 R376H probably damaging Het
Other mutations in Gm597
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00740:Gm597 APN 1 28778651 missense possibly damaging 0.94
IGL00885:Gm597 APN 1 28776845 missense unknown
IGL01296:Gm597 APN 1 28777056 missense probably benign 0.23
IGL01476:Gm597 APN 1 28777453 missense probably benign 0.04
IGL02125:Gm597 APN 1 28776338 missense possibly damaging 0.91
IGL02410:Gm597 APN 1 28778631 missense probably benign 0.25
IGL02982:Gm597 APN 1 28778054 missense probably damaging 1.00
IGL03031:Gm597 APN 1 28778583 missense probably benign 0.03
R0294:Gm597 UTSW 1 28778663 missense probably benign 0.00
R0433:Gm597 UTSW 1 28777342 nonsense probably null
R0485:Gm597 UTSW 1 28778142 missense probably damaging 1.00
R0645:Gm597 UTSW 1 28776930 missense probably damaging 0.99
R0744:Gm597 UTSW 1 28777821 missense possibly damaging 0.46
R0836:Gm597 UTSW 1 28777821 missense possibly damaging 0.46
R1036:Gm597 UTSW 1 28777802 missense probably benign 0.01
R1302:Gm597 UTSW 1 28776340 missense probably benign 0.00
R1394:Gm597 UTSW 1 28776809 missense possibly damaging 0.61
R1395:Gm597 UTSW 1 28776809 missense possibly damaging 0.61
R1514:Gm597 UTSW 1 28778748 missense possibly damaging 0.83
R1535:Gm597 UTSW 1 28777424 missense probably damaging 1.00
R2004:Gm597 UTSW 1 28777179 missense probably damaging 1.00
R2021:Gm597 UTSW 1 28778153 missense probably damaging 0.98
R2022:Gm597 UTSW 1 28778153 missense probably damaging 0.98
R3115:Gm597 UTSW 1 28776329 missense possibly damaging 0.92
R3615:Gm597 UTSW 1 28776575 missense probably benign 0.26
R3616:Gm597 UTSW 1 28776575 missense probably benign 0.26
R3862:Gm597 UTSW 1 28777641 missense probably damaging 0.98
R4067:Gm597 UTSW 1 28777631 missense probably damaging 0.98
R4119:Gm597 UTSW 1 28777973 missense probably damaging 0.99
R4415:Gm597 UTSW 1 28777133 missense probably benign 0.01
R5010:Gm597 UTSW 1 28777862 missense possibly damaging 0.52
R5109:Gm597 UTSW 1 28777555 missense possibly damaging 0.46
R5122:Gm597 UTSW 1 28780060 missense probably benign 0.00
R5533:Gm597 UTSW 1 28778082 missense probably damaging 1.00
R6085:Gm597 UTSW 1 28778227 missense possibly damaging 0.55
R6116:Gm597 UTSW 1 28778699 missense probably benign 0.01
R6750:Gm597 UTSW 1 28777414 missense probably damaging 0.98
R6757:Gm597 UTSW 1 28780110 missense probably damaging 0.98
R6774:Gm597 UTSW 1 28776893 missense probably benign 0.00
Posted On2016-08-02