Incidental Mutation 'IGL01837:Gm11992'
ID 154997
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm11992
Ensembl Gene ENSMUSG00000040978
Gene Name predicted gene 11992
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL01837
Quality Score
Status
Chromosome 11
Chromosomal Location 8998592-9019354 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 9011266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 236 (R236W)
Ref Sequence ENSEMBL: ENSMUSP00000039806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043285]
AlphaFold Q5SS90
Predicted Effect probably damaging
Transcript: ENSMUST00000043285
AA Change: R236W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039806
Gene: ENSMUSG00000040978
AA Change: R236W

DomainStartEndE-ValueType
low complexity region 244 255 N/A INTRINSIC
low complexity region 259 269 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,627,671 (GRCm39) F1372L probably damaging Het
Alcam T A 16: 52,073,531 (GRCm39) N339I probably benign Het
Ankrd35 A C 3: 96,587,982 (GRCm39) D141A probably damaging Het
Apc2 A G 10: 80,150,492 (GRCm39) I1820V probably benign Het
Ccp110 T A 7: 118,324,684 (GRCm39) probably null Het
Copa T A 1: 171,946,419 (GRCm39) D954E probably benign Het
Csmd2 A T 4: 128,313,363 (GRCm39) I1347F possibly damaging Het
Ddx10 A G 9: 53,140,498 (GRCm39) I301T probably benign Het
Defb23 T A 2: 152,301,294 (GRCm39) M93L probably benign Het
Dnah8 T C 17: 30,970,565 (GRCm39) probably null Het
Dok3 T C 13: 55,671,383 (GRCm39) E396G probably damaging Het
Eml6 T A 11: 29,727,055 (GRCm39) M1318L probably benign Het
Foxm1 T A 6: 128,343,167 (GRCm39) probably benign Het
Greb1 T C 12: 16,734,452 (GRCm39) I1513V probably benign Het
Hivep3 A G 4: 119,951,759 (GRCm39) E25G possibly damaging Het
Ighg2b C T 12: 113,270,065 (GRCm39) E318K unknown Het
Itga4 T C 2: 79,145,349 (GRCm39) S722P probably damaging Het
Kirrel3 G A 9: 34,946,224 (GRCm39) R617H probably damaging Het
Mboat1 A T 13: 30,425,166 (GRCm39) H409L possibly damaging Het
Naa15 A T 3: 51,351,369 (GRCm39) K180* probably null Het
Nccrp1 A G 7: 28,246,191 (GRCm39) S124P probably damaging Het
Nphp4 T C 4: 152,573,338 (GRCm39) I92T probably damaging Het
Or13a28 G A 7: 140,218,124 (GRCm39) C170Y probably damaging Het
Or6d14 C A 6: 116,533,807 (GRCm39) Y140* probably null Het
Pkd1l3 A G 8: 110,356,798 (GRCm39) D741G possibly damaging Het
Plcb2 C T 2: 118,542,407 (GRCm39) probably null Het
Pramel19 A G 4: 101,798,650 (GRCm39) E207G probably damaging Het
Prm2 G A 16: 10,609,775 (GRCm39) probably null Het
R3hdm1 C T 1: 128,114,497 (GRCm39) Q184* probably null Het
Rgl1 A T 1: 152,424,901 (GRCm39) N359K probably damaging Het
Rnf44 A G 13: 54,829,966 (GRCm39) Y366H probably damaging Het
Rpap2 G A 5: 107,773,835 (GRCm39) probably null Het
Ryr3 T C 2: 112,631,665 (GRCm39) N2120S probably damaging Het
Samd8 A G 14: 21,825,027 (GRCm39) probably benign Het
Sipa1 G T 19: 5,702,099 (GRCm39) T937K probably damaging Het
Sos1 A T 17: 80,730,157 (GRCm39) D707E probably damaging Het
Tas2r109 T C 6: 132,957,477 (GRCm39) N151S probably benign Het
Try5 T C 6: 41,290,358 (GRCm39) N42S probably benign Het
Ttn G T 2: 76,732,338 (GRCm39) probably benign Het
Utp14b A G 1: 78,642,636 (GRCm39) E178G probably damaging Het
Other mutations in Gm11992
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01329:Gm11992 APN 11 9,018,383 (GRCm39) makesense probably null
IGL02405:Gm11992 APN 11 9,009,939 (GRCm39) missense probably benign 0.00
IGL02875:Gm11992 APN 11 9,002,887 (GRCm39) unclassified probably benign
P0023:Gm11992 UTSW 11 9,002,846 (GRCm39) missense probably damaging 1.00
R5100:Gm11992 UTSW 11 9,011,290 (GRCm39) missense probably damaging 0.99
R5471:Gm11992 UTSW 11 9,018,333 (GRCm39) critical splice acceptor site probably null
R5935:Gm11992 UTSW 11 9,002,711 (GRCm39) missense probably damaging 1.00
R6715:Gm11992 UTSW 11 9,011,214 (GRCm39) missense probably damaging 1.00
R7559:Gm11992 UTSW 11 9,002,747 (GRCm39) missense possibly damaging 0.94
R7910:Gm11992 UTSW 11 8,999,165 (GRCm39) missense probably damaging 1.00
R8397:Gm11992 UTSW 11 9,011,305 (GRCm39) missense probably damaging 1.00
R9696:Gm11992 UTSW 11 9,006,438 (GRCm39) missense probably benign 0.01
R9702:Gm11992 UTSW 11 9,006,568 (GRCm39) missense probably benign 0.05
Posted On 2014-02-04