Incidental Mutation 'IGL01837:Gm11992'
ID154997
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm11992
Ensembl Gene ENSMUSG00000040978
Gene Namepredicted gene 11992
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL01837
Quality Score
Status
Chromosome11
Chromosomal Location9048594-9069356 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 9061266 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 236 (R236W)
Ref Sequence ENSEMBL: ENSMUSP00000039806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043285]
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: 24,408,697 F1372L probably damaging Het
Alcam T A 16: 52,253,168 N339I probably benign Het
Ankrd35 A C 3: 96,680,666 D141A probably damaging Het
Apc2 A G 10: 80,314,658 I1820V probably benign Het
Ccp110 T A 7: 118,725,461 probably null Het
Copa T A 1: 172,118,852 D954E probably benign Het
Csmd2 A T 4: 128,419,570 I1347F possibly damaging Het
Ddx10 A G 9: 53,229,198 I301T probably benign Het
Defb23 T A 2: 152,459,374 M93L probably benign Het
Dnah8 T C 17: 30,751,591 probably null Het
Dok3 T C 13: 55,523,570 E396G probably damaging Het
Eml6 T A 11: 29,777,055 M1318L probably benign Het
Foxm1 T A 6: 128,366,204 probably benign Het
Gm12794 A G 4: 101,941,453 E207G probably damaging Het
Greb1 T C 12: 16,684,451 I1513V probably benign Het
Hivep3 A G 4: 120,094,562 E25G possibly damaging Het
Ighg2b C T 12: 113,306,445 E318K unknown Het
Itga4 T C 2: 79,315,005 S722P probably damaging Het
Kirrel3 G A 9: 35,034,928 R617H probably damaging Het
Mboat1 A T 13: 30,241,183 H409L possibly damaging Het
Naa15 A T 3: 51,443,948 K180* probably null Het
Nccrp1 A G 7: 28,546,766 S124P probably damaging Het
Nphp4 T C 4: 152,488,881 I92T probably damaging Het
Olfr214 C A 6: 116,556,846 Y140* probably null Het
Olfr61 G A 7: 140,638,211 C170Y probably damaging Het
Pkd1l3 A G 8: 109,630,166 D741G possibly damaging Het
Plcb2 C T 2: 118,711,926 probably null Het
Prm2 G A 16: 10,791,911 probably null Het
R3hdm1 C T 1: 128,186,760 Q184* probably null Het
Rgl1 A T 1: 152,549,150 N359K probably damaging Het
Rnf44 A G 13: 54,682,153 Y366H probably damaging Het
Rpap2 G A 5: 107,625,969 probably null Het
Ryr3 T C 2: 112,801,320 N2120S probably damaging Het
Samd8 A G 14: 21,774,959 probably benign Het
Sipa1 G T 19: 5,652,071 T937K probably damaging Het
Sos1 A T 17: 80,422,728 D707E probably damaging Het
Tas2r109 T C 6: 132,980,514 N151S probably benign Het
Try5 T C 6: 41,313,424 N42S probably benign Het
Ttn G T 2: 76,901,994 probably benign Het
Utp14b A G 1: 78,664,919 E178G probably damaging Het
Other mutations in Gm11992
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01329:Gm11992 APN 11 9068383 makesense probably null
IGL02405:Gm11992 APN 11 9059939 missense probably benign 0.00
IGL02875:Gm11992 APN 11 9052887 unclassified probably benign
P0023:Gm11992 UTSW 11 9052846 missense probably damaging 1.00
R5100:Gm11992 UTSW 11 9061290 missense probably damaging 0.99
R5471:Gm11992 UTSW 11 9068333 critical splice acceptor site probably null
R5935:Gm11992 UTSW 11 9052711 missense probably damaging 1.00
R6715:Gm11992 UTSW 11 9061214 missense probably damaging 1.00
R7559:Gm11992 UTSW 11 9052747 missense possibly damaging 0.94
R7910:Gm11992 UTSW 11 9049165 missense probably damaging 1.00
R7991:Gm11992 UTSW 11 9049165 missense probably damaging 1.00
Posted On2014-02-04