Incidental Mutation 'IGL03385:Gm973'
ID 420845
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm973
Ensembl Gene ENSMUSG00000047361
Gene Name predicted gene 973
Synonyms LOC381260
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # IGL03385
Quality Score
Status
Chromosome 1
Chromosomal Location 59555423-59675576 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59621629 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 590 (S590G)
Ref Sequence ENSEMBL: ENSMUSP00000109881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114243]
AlphaFold E9Q295
Predicted Effect probably benign
Transcript: ENSMUST00000114243
AA Change: S590G

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000109881
Gene: ENSMUSG00000047361
AA Change: S590G

DomainStartEndE-ValueType
low complexity region 364 375 N/A INTRINSIC
Pfam:DUF4670 583 1045 7.3e-160 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191158
Predicted Effect unknown
Transcript: ENSMUST00000212835
AA Change: S25G
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bbs9 A G 9: 22,555,044 (GRCm39) T444A probably benign Het
Cdh20 A G 1: 109,993,516 (GRCm39) T324A possibly damaging Het
Col14a1 C A 15: 55,273,600 (GRCm39) T723K unknown Het
Col14a1 G A 15: 55,335,104 (GRCm39) G1513S unknown Het
Col1a2 C A 6: 4,539,612 (GRCm39) N1293K unknown Het
Ctdp1 T C 18: 80,493,133 (GRCm39) D454G probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
G3bp2 A G 5: 92,216,254 (GRCm39) V94A probably damaging Het
Gon4l A T 3: 88,814,850 (GRCm39) T1940S probably benign Het
Itk G A 11: 46,222,688 (GRCm39) Q594* probably null Het
Kcnc2 G A 10: 112,291,691 (GRCm39) C293Y probably damaging Het
Krit1 A G 5: 3,857,452 (GRCm39) I86V possibly damaging Het
Lyst T A 13: 13,831,565 (GRCm39) L1663* probably null Het
Moxd2 T C 6: 40,855,952 (GRCm39) T546A probably damaging Het
Myo7b G T 18: 32,122,630 (GRCm39) Q717K probably benign Het
Or2a51 T C 6: 43,178,914 (GRCm39) V112A probably benign Het
Or2ad1 A G 13: 21,326,657 (GRCm39) V190A probably benign Het
Ostm1 A C 10: 42,574,140 (GRCm39) N123H probably damaging Het
Pcdh10 A C 3: 45,335,947 (GRCm39) S754R possibly damaging Het
Pomt2 A T 12: 87,163,330 (GRCm39) L613Q probably damaging Het
Samd9l T A 6: 3,376,208 (GRCm39) N351I probably damaging Het
Serpinb9 T C 13: 33,191,979 (GRCm39) probably benign Het
Slc12a4 T A 8: 106,677,496 (GRCm39) probably benign Het
Smgc T A 15: 91,726,181 (GRCm39) H42Q possibly damaging Het
Tor1a A G 2: 30,853,739 (GRCm39) V197A possibly damaging Het
Ttc4 A G 4: 106,525,397 (GRCm39) S246P probably benign Het
Tti1 G A 2: 157,834,945 (GRCm39) A1005V possibly damaging Het
Ugt3a1 A T 15: 9,338,824 (GRCm39) I63F probably damaging Het
Other mutations in Gm973
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Gm973 APN 1 59,669,438 (GRCm39) missense probably benign 0.00
IGL01732:Gm973 APN 1 59,669,396 (GRCm39) missense probably benign 0.24
IGL02124:Gm973 APN 1 59,621,632 (GRCm39) nonsense probably null
IGL02251:Gm973 APN 1 59,621,582 (GRCm39) missense probably benign 0.18
IGL02818:Gm973 APN 1 59,580,634 (GRCm39) critical splice donor site probably null
R0105:Gm973 UTSW 1 59,621,633 (GRCm39) missense probably null 0.60
R0105:Gm973 UTSW 1 59,621,633 (GRCm39) missense probably null 0.60
R0280:Gm973 UTSW 1 59,583,839 (GRCm39) frame shift probably null
R0490:Gm973 UTSW 1 59,597,393 (GRCm39) splice site probably benign
R0491:Gm973 UTSW 1 59,597,393 (GRCm39) splice site probably benign
R0508:Gm973 UTSW 1 59,621,649 (GRCm39) splice site probably benign
R0636:Gm973 UTSW 1 59,590,303 (GRCm39) missense probably benign 0.13
R0709:Gm973 UTSW 1 59,597,393 (GRCm39) splice site probably benign
R0900:Gm973 UTSW 1 59,605,827 (GRCm39) missense probably benign 0.00
R1758:Gm973 UTSW 1 59,673,169 (GRCm39) missense unknown
R1816:Gm973 UTSW 1 59,621,558 (GRCm39) missense probably damaging 0.99
R1975:Gm973 UTSW 1 59,601,930 (GRCm39) missense possibly damaging 0.50
R2166:Gm973 UTSW 1 59,565,898 (GRCm39) missense possibly damaging 0.61
R3052:Gm973 UTSW 1 59,672,299 (GRCm39) splice site probably benign
R3899:Gm973 UTSW 1 59,664,299 (GRCm39) missense probably benign 0.00
R4181:Gm973 UTSW 1 59,590,399 (GRCm39) missense possibly damaging 0.93
R4302:Gm973 UTSW 1 59,590,399 (GRCm39) missense possibly damaging 0.93
R4623:Gm973 UTSW 1 59,595,435 (GRCm39) missense probably damaging 1.00
R4642:Gm973 UTSW 1 59,597,273 (GRCm39) missense probably damaging 1.00
R4716:Gm973 UTSW 1 59,591,713 (GRCm39) nonsense probably null
R4920:Gm973 UTSW 1 59,666,725 (GRCm39) missense probably benign
R4951:Gm973 UTSW 1 59,580,633 (GRCm39) critical splice donor site probably null
R5214:Gm973 UTSW 1 59,565,880 (GRCm39) missense probably damaging 1.00
R5225:Gm973 UTSW 1 59,601,859 (GRCm39) missense probably benign 0.01
R5472:Gm973 UTSW 1 59,667,446 (GRCm39) splice site probably null
R5554:Gm973 UTSW 1 59,566,131 (GRCm39) missense probably benign 0.09
R5709:Gm973 UTSW 1 59,591,714 (GRCm39) missense possibly damaging 0.73
R5886:Gm973 UTSW 1 59,597,409 (GRCm39) intron probably benign
R6044:Gm973 UTSW 1 59,667,393 (GRCm39) missense probably benign
R6046:Gm973 UTSW 1 59,671,509 (GRCm39) missense unknown
R6818:Gm973 UTSW 1 59,669,328 (GRCm39) missense probably damaging 0.99
R6920:Gm973 UTSW 1 59,591,620 (GRCm39) missense possibly damaging 0.76
R6999:Gm973 UTSW 1 59,673,251 (GRCm39) missense unknown
R7214:Gm973 UTSW 1 59,601,888 (GRCm39) nonsense probably null
R7418:Gm973 UTSW 1 59,565,972 (GRCm39) missense probably damaging 1.00
R7780:Gm973 UTSW 1 59,597,289 (GRCm39) missense probably damaging 1.00
R8834:Gm973 UTSW 1 59,563,820 (GRCm39) missense
R9083:Gm973 UTSW 1 59,675,317 (GRCm39) missense
R9206:Gm973 UTSW 1 59,591,585 (GRCm39) missense possibly damaging 0.86
R9297:Gm973 UTSW 1 59,583,829 (GRCm39) missense probably damaging 1.00
R9519:Gm973 UTSW 1 59,580,611 (GRCm39) missense probably benign 0.29
R9701:Gm973 UTSW 1 59,566,032 (GRCm39) missense possibly damaging 0.61
Z1176:Gm973 UTSW 1 59,563,761 (GRCm39) start gained probably benign
Z1177:Gm973 UTSW 1 59,580,489 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02