Incidental Mutation 'IGL02125:Gm597'
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ID280803
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: 0.067) question?
Stock #IGL02125
Quality Score
Status
Chromosome1
Chromosomal Location28776117-28780252 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 28776338 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 871 (N871S)
Ref Sequence ENSEMBL: ENSMUSP00000058140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059937]
Predicted Effect possibly damaging
Transcript: ENSMUST00000059937
AA Change: N871S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: N871S

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700015F17Rik T C 5: 5,450,644 *151W probably null Het
Adam29 A T 8: 55,871,939 C493* probably null Het
Aldh16a1 G A 7: 45,146,035 P400L probably damaging Het
Ankrd12 A G 17: 65,970,144 probably benign Het
Anxa5 G A 3: 36,452,264 T213I probably damaging Het
Baz2b A G 2: 59,968,640 L380S probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cacna2d2 C T 9: 107,513,904 Q411* probably null Het
Cdh19 A G 1: 110,929,884 V240A possibly damaging Het
Cltc A T 11: 86,704,810 probably benign Het
Dclk3 T A 9: 111,469,107 V573E probably damaging Het
Dhx29 T C 13: 112,955,300 probably benign Het
Dip2b T C 15: 100,186,250 L918P possibly damaging Het
Dzip3 A T 16: 48,927,596 N1150K probably damaging Het
Fgf5 T C 5: 98,254,532 S41P possibly damaging Het
Galc A T 12: 98,231,509 Y120N probably damaging Het
Gldc T C 19: 30,147,241 N219S probably benign Het
Gm11563 A T 11: 99,658,805 V41E unknown Het
Gpatch11 T A 17: 78,840,109 N106K probably benign Het
Gpx3 A G 11: 54,907,242 N68S probably damaging Het
Ibtk T C 9: 85,735,070 N150D probably damaging Het
Iglc2 G A 16: 19,198,712 P48S probably benign Het
Itih5 G A 2: 10,240,987 R629H probably benign Het
Kank1 T A 19: 25,410,703 V552E possibly damaging Het
Kmt2a T A 9: 44,848,686 H655L probably damaging Het
Mkl2 A G 16: 13,400,183 probably null Het
Mme A T 3: 63,348,649 N510I probably damaging Het
Obscn A G 11: 59,022,362 I6943T probably damaging Het
Obscn G T 11: 59,093,326 Q1768K possibly damaging Het
Olfr209 T C 16: 59,361,516 N234S probably benign Het
Olfr633 T A 7: 103,947,072 C169S probably damaging Het
Otud3 A T 4: 138,896,714 probably null Het
Parp4 A G 14: 56,590,502 K237E probably benign Het
Pfkfb4 C T 9: 109,025,110 R351W probably damaging Het
Rbbp6 T C 7: 122,971,129 probably null Het
Rdh16 G T 10: 127,811,319 probably benign Het
Ropn1 A G 16: 34,666,777 T28A probably benign Het
Sec24d T C 3: 123,358,958 V873A probably damaging Het
Serpinb3b T A 1: 107,154,744 L263F probably damaging Het
Shq1 T C 6: 100,631,006 T315A probably benign Het
Slc13a4 T C 6: 35,278,288 E355G probably benign Het
Slc26a9 T C 1: 131,759,437 S445P probably damaging Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Slc4a10 A T 2: 62,268,171 M550L probably benign Het
Syt17 T C 7: 118,409,974 D341G probably benign Het
Tmem62 A G 2: 120,996,512 Y430C probably benign Het
Upp1 A G 11: 9,125,650 probably benign Het
Vmn1r91 T G 7: 20,101,504 V116G probably damaging Het
Vmn2r101 A T 17: 19,589,701 I250F possibly damaging Het
Vmn2r116 T G 17: 23,397,627 probably benign Het
Vmn2r72 C T 7: 85,750,711 V377I probably benign Het
Zfp592 G T 7: 81,038,184 A953S probably benign 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
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
IGL03267:Gm597 APN 1 28777121 missense probably damaging 1.00
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
R7156:Gm597 UTSW 1 28776767 missense possibly damaging 0.53
R7365:Gm597 UTSW 1 28780152 missense probably benign 0.04
R7739:Gm597 UTSW 1 28777608 missense possibly damaging 0.72
R7996:Gm597 UTSW 1 28778406 missense probably damaging 0.98
Posted On2015-04-16