Incidental Mutation 'IGL02818:Gm973'
ID360895
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm973
Ensembl Gene ENSMUSG00000047361
Gene Namepredicted gene 973
SynonymsLOC381260
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.122) question?
Stock #IGL02818
Quality Score
Status
Chromosome1
Chromosomal Location59516264-59636417 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 59541475 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114243] [ENSMUST00000186434]
Predicted Effect probably null
Transcript: ENSMUST00000114243
SMART Domains Protein: ENSMUSP00000109881
Gene: ENSMUSG00000047361

DomainStartEndE-ValueType
low complexity region 364 375 N/A INTRINSIC
Pfam:DUF4670 583 1045 7.3e-160 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185291
Predicted Effect probably null
Transcript: ENSMUST00000186434
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186973
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189864
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191318
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,300,352 F653S probably benign Het
Acsm2 A G 7: 119,573,581 probably null Het
Aldh2 C T 5: 121,575,125 G256D probably benign Het
Ankfn1 G A 11: 89,538,466 H31Y probably benign Het
BC016579 A T 16: 45,629,502 S184R probably damaging Het
Cd101 A G 3: 101,011,929 L619P probably damaging Het
Clec14a A T 12: 58,268,102 C245S probably damaging Het
Csmd2 T C 4: 128,209,728 C247R probably damaging Het
Csnk2a1 G T 2: 152,274,085 probably benign Het
Dctn1 T C 6: 83,192,514 S637P possibly damaging Het
Dhx40 A T 11: 86,799,505 I230K probably benign Het
Dnah7b T C 1: 46,290,808 Y3271H probably damaging Het
Efcab5 A T 11: 77,105,348 I1129N probably damaging Het
Gaa G T 11: 119,276,848 A445S probably damaging Het
Gldc A G 19: 30,136,509 S498P probably damaging Het
Hpdl T C 4: 116,820,242 I341V probably damaging Het
Il23r A G 6: 67,486,094 probably null Het
Kif9 T A 9: 110,485,149 Y76N probably damaging Het
Lct T G 1: 128,300,168 E1196A probably damaging Het
Lrrc37a T C 11: 103,501,306 I1098V possibly damaging Het
Mroh1 A G 15: 76,432,401 probably null Het
Nmrk1 T C 19: 18,641,259 L102P probably damaging Het
Nudcd3 A T 11: 6,150,635 probably benign Het
Ogdh A G 11: 6,348,270 T603A probably benign Het
Olfr1085 T A 2: 86,657,784 I225F probably damaging Het
Olfr527 A T 7: 140,336,606 Y248F possibly damaging Het
Pcsk4 T C 10: 80,322,792 Y542C probably damaging Het
Pkd2l2 T A 18: 34,412,809 W88R probably damaging Het
Ppp1r1b C T 11: 98,351,270 T21I possibly damaging Het
Srebf2 C A 15: 82,185,374 H706N probably damaging Het
Stradb T C 1: 58,979,962 V14A probably damaging Het
Svep1 T C 4: 58,069,804 T2661A possibly damaging Het
Tnn A T 1: 160,116,278 S988R possibly damaging Het
Trpm6 C A 19: 18,866,257 Q1662K probably benign Het
Utp3 T A 5: 88,555,408 Y265* probably null Het
Vwf A G 6: 125,663,548 T2316A probably benign Het
Zfp90 T C 8: 106,424,209 F185L probably benign Het
Zwilch G A 9: 64,150,227 T395I probably damaging Het
Other mutations in Gm973
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Gm973 APN 1 59630279 missense probably benign 0.00
IGL01732:Gm973 APN 1 59630237 missense probably benign 0.24
IGL02124:Gm973 APN 1 59582473 nonsense probably null
IGL02251:Gm973 APN 1 59582423 missense probably benign 0.18
IGL03385:Gm973 APN 1 59582470 missense probably benign 0.14
R0105:Gm973 UTSW 1 59582474 missense probably null 0.60
R0105:Gm973 UTSW 1 59582474 missense probably null 0.60
R0280:Gm973 UTSW 1 59544680 frame shift probably null
R0490:Gm973 UTSW 1 59558234 splice site probably benign
R0491:Gm973 UTSW 1 59558234 splice site probably benign
R0508:Gm973 UTSW 1 59582490 splice site probably benign
R0636:Gm973 UTSW 1 59551144 missense probably benign 0.13
R0709:Gm973 UTSW 1 59558234 splice site probably benign
R0900:Gm973 UTSW 1 59566668 missense probably benign 0.00
R1758:Gm973 UTSW 1 59634010 missense unknown
R1816:Gm973 UTSW 1 59582399 missense probably damaging 0.99
R1975:Gm973 UTSW 1 59562771 missense possibly damaging 0.50
R2166:Gm973 UTSW 1 59526739 missense possibly damaging 0.61
R3052:Gm973 UTSW 1 59633140 splice site probably benign
R3899:Gm973 UTSW 1 59625140 missense probably benign 0.00
R4181:Gm973 UTSW 1 59551240 missense possibly damaging 0.93
R4302:Gm973 UTSW 1 59551240 missense possibly damaging 0.93
R4623:Gm973 UTSW 1 59556276 missense probably damaging 1.00
R4642:Gm973 UTSW 1 59558114 missense probably damaging 1.00
R4716:Gm973 UTSW 1 59552554 nonsense probably null
R4920:Gm973 UTSW 1 59627566 missense probably benign
R4951:Gm973 UTSW 1 59541474 critical splice donor site probably null
R5214:Gm973 UTSW 1 59526721 missense probably damaging 1.00
R5225:Gm973 UTSW 1 59562700 missense probably benign 0.01
R5472:Gm973 UTSW 1 59628287 splice site probably null
R5554:Gm973 UTSW 1 59526972 missense probably benign 0.09
R5709:Gm973 UTSW 1 59552555 missense possibly damaging 0.73
R5886:Gm973 UTSW 1 59558250 intron probably benign
R6044:Gm973 UTSW 1 59628234 missense probably benign
R6046:Gm973 UTSW 1 59632350 missense unknown
R6818:Gm973 UTSW 1 59630169 missense probably damaging 0.99
R6920:Gm973 UTSW 1 59552461 missense possibly damaging 0.76
R6999:Gm973 UTSW 1 59634092 missense unknown
Posted On2015-12-18