Incidental Mutation 'IGL01391:Gm12258'
ID79212
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm12258
Ensembl Gene ENSMUSG00000072915
Gene Namepredicted gene 12258
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01391
Quality Score
Status
Chromosome11
Chromosomal Location58847158-58861956 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 58848694 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 3 (T3A)
Ref Sequence ENSEMBL: ENSMUSP00000117644 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000139337] [ENSMUST00000216473]
Predicted Effect probably benign
Transcript: ENSMUST00000139337
AA Change: T3A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000117644
Gene: ENSMUSG00000072915
AA Change: T3A

DomainStartEndE-ValueType
KRAB 56 116 1.8e-32 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143407
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214776
Predicted Effect probably benign
Transcript: ENSMUST00000216473
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3m2 T A 8: 22,799,647 I147F probably benign Het
Areg T A 5: 91,141,095 S87T probably damaging Het
Arid1b T A 17: 5,318,858 probably benign Het
Arl6ip6 A G 2: 53,192,144 R8G probably benign Het
Brms1 A G 19: 5,046,695 E135G possibly damaging Het
Ccser1 A G 6: 61,638,521 probably benign Het
Dock3 A T 9: 106,907,234 M258K possibly damaging Het
Epb41l4a T G 18: 33,801,625 D562A possibly damaging Het
Etaa1 G A 11: 17,946,005 T704I probably damaging Het
Fer1l4 T A 2: 156,036,456 H972L probably damaging Het
Foxn1 A G 11: 78,361,494 M356T probably damaging Het
Gfral C A 9: 76,164,825 G388* probably null Het
Gm10436 C T 12: 88,178,455 V34I possibly damaging Het
Hoxa5 T C 6: 52,204,331 N7S probably damaging Het
Itgb4 T C 11: 115,990,920 L765P probably damaging Het
Jchain C T 5: 88,521,524 C90Y probably damaging Het
Klhl40 A G 9: 121,778,917 Y381C probably damaging Het
Lhx6 A T 2: 36,103,465 C74S probably benign Het
Magel2 A G 7: 62,380,884 S1179G unknown Het
Mapre3 T C 5: 30,864,897 I236T probably damaging Het
Mcf2l A T 8: 13,014,010 probably null Het
Med13 A T 11: 86,328,497 H374Q probably benign Het
Meioc A G 11: 102,674,287 Y187C probably benign Het
Myh1 G A 11: 67,217,863 M1368I probably benign Het
Olfr304 A T 7: 86,386,000 I220N possibly damaging Het
Olfr921 A G 9: 38,775,530 I92V probably damaging Het
Phrf1 T C 7: 141,262,481 Y1501H probably damaging Het
Pigb T C 9: 73,022,291 T337A probably damaging Het
Pls1 T C 9: 95,773,698 K334E probably benign Het
Rab3b T C 4: 108,940,802 C226R probably damaging Het
Ryr2 A T 13: 11,556,685 I4889N possibly damaging Het
Serpinb1a G A 13: 32,845,415 S210L probably benign Het
Slc52a3 A G 2: 152,007,602 I390V probably benign Het
Slc6a7 C A 18: 61,003,310 A340S probably damaging Het
Tcaf3 T C 6: 42,593,681 Y379C probably damaging Het
Tex261 A G 6: 83,771,240 V180A probably benign Het
Tnnt1 C T 7: 4,514,212 probably null Het
Ttn T C 2: 76,968,503 T476A possibly damaging Het
Vcan A G 13: 89,704,169 S891P probably benign Het
Vmn2r16 T A 5: 109,363,761 D611E possibly damaging Het
Vmn2r68 T C 7: 85,237,611 T32A probably benign Het
Vwde T G 6: 13,190,527 S522R probably benign Het
Wdr3 G A 3: 100,146,789 probably benign Het
Wfs1 G T 5: 36,971,563 Q288K probably benign Het
Zfp142 A G 1: 74,579,540 V120A probably damaging Het
Zfp672 A G 11: 58,317,366 F43S probably damaging Het
Znhit3 A T 11: 84,911,457 probably benign Het
Other mutations in Gm12258
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00557:Gm12258 APN 11 58856070 missense probably benign
IGL03081:Gm12258 APN 11 58858259 missense probably benign 0.07
R1521:Gm12258 UTSW 11 58859555 missense probably damaging 1.00
R1653:Gm12258 UTSW 11 58858287 missense possibly damaging 0.68
R3895:Gm12258 UTSW 11 58858549 nonsense probably null
R4065:Gm12258 UTSW 11 58858526 missense probably benign 0.08
R4066:Gm12258 UTSW 11 58858526 missense probably benign 0.08
R4747:Gm12258 UTSW 11 58859596 missense probably damaging 1.00
R4803:Gm12258 UTSW 11 58859030 missense probably benign 0.06
R5554:Gm12258 UTSW 11 58858468 missense possibly damaging 0.92
R5896:Gm12258 UTSW 11 58859631 missense probably damaging 1.00
R5956:Gm12258 UTSW 11 58859459 missense probably benign 0.02
R6277:Gm12258 UTSW 11 58854287 missense probably damaging 1.00
R7166:Gm12258 UTSW 11 58858473 missense
R7728:Gm12258 UTSW 11 58859692 missense unknown
R8161:Gm12258 UTSW 11 58859312 missense unknown
R8268:Gm12258 UTSW 11 58854258 critical splice acceptor site probably null
R8491:Gm12258 UTSW 11 58854296 missense
R8878:Gm12258 UTSW 11 58859286 missense unknown
Z1186:Gm12258 UTSW 11 58858300 missense
Z1186:Gm12258 UTSW 11 58858436 missense
Z1186:Gm12258 UTSW 11 58858938 missense unknown
Z1186:Gm12258 UTSW 11 58858950 missense unknown
Z1186:Gm12258 UTSW 11 58859007 missense unknown
Z1186:Gm12258 UTSW 11 58859187 unclassified probably benign
Z1186:Gm12258 UTSW 11 58859188 unclassified probably benign
Z1186:Gm12258 UTSW 11 58859864 missense unknown
Z1187:Gm12258 UTSW 11 58858300 missense
Z1187:Gm12258 UTSW 11 58858436 missense
Z1187:Gm12258 UTSW 11 58858938 missense unknown
Z1187:Gm12258 UTSW 11 58858950 missense unknown
Z1187:Gm12258 UTSW 11 58859007 missense unknown
Z1187:Gm12258 UTSW 11 58859187 unclassified probably benign
Z1187:Gm12258 UTSW 11 58859188 unclassified probably benign
Z1187:Gm12258 UTSW 11 58859864 missense unknown
Z1188:Gm12258 UTSW 11 58858300 missense
Z1188:Gm12258 UTSW 11 58858436 missense
Z1188:Gm12258 UTSW 11 58858938 missense unknown
Z1188:Gm12258 UTSW 11 58858950 missense unknown
Z1188:Gm12258 UTSW 11 58859007 missense unknown
Z1188:Gm12258 UTSW 11 58859187 unclassified probably benign
Z1188:Gm12258 UTSW 11 58859188 unclassified probably benign
Z1188:Gm12258 UTSW 11 58859864 missense unknown
Z1189:Gm12258 UTSW 11 58858300 missense
Z1189:Gm12258 UTSW 11 58858436 missense
Z1189:Gm12258 UTSW 11 58858938 missense unknown
Z1189:Gm12258 UTSW 11 58858950 missense unknown
Z1189:Gm12258 UTSW 11 58859007 missense unknown
Z1189:Gm12258 UTSW 11 58859187 unclassified probably benign
Z1189:Gm12258 UTSW 11 58859188 unclassified probably benign
Z1189:Gm12258 UTSW 11 58859864 missense unknown
Z1190:Gm12258 UTSW 11 58858300 missense
Z1190:Gm12258 UTSW 11 58858436 missense
Z1190:Gm12258 UTSW 11 58858938 missense unknown
Z1190:Gm12258 UTSW 11 58858950 missense unknown
Z1190:Gm12258 UTSW 11 58859007 missense unknown
Z1190:Gm12258 UTSW 11 58859187 unclassified probably benign
Z1190:Gm12258 UTSW 11 58859188 unclassified probably benign
Z1190:Gm12258 UTSW 11 58859864 missense unknown
Z1191:Gm12258 UTSW 11 58858300 missense
Z1191:Gm12258 UTSW 11 58858436 missense
Z1191:Gm12258 UTSW 11 58858938 missense unknown
Z1191:Gm12258 UTSW 11 58858950 missense unknown
Z1191:Gm12258 UTSW 11 58859007 missense unknown
Z1191:Gm12258 UTSW 11 58859187 unclassified probably benign
Z1191:Gm12258 UTSW 11 58859188 unclassified probably benign
Z1191:Gm12258 UTSW 11 58859864 missense unknown
Z1192:Gm12258 UTSW 11 58858300 missense
Z1192:Gm12258 UTSW 11 58858436 missense
Z1192:Gm12258 UTSW 11 58858938 missense unknown
Z1192:Gm12258 UTSW 11 58858950 missense unknown
Z1192:Gm12258 UTSW 11 58859007 missense unknown
Z1192:Gm12258 UTSW 11 58859187 unclassified probably benign
Z1192:Gm12258 UTSW 11 58859188 unclassified probably benign
Z1192:Gm12258 UTSW 11 58859864 missense unknown
Posted On2013-11-05