Incidental Mutation 'IGL01859:Gm11127'
ID178262
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm11127
Ensembl Gene ENSMUSG00000079492
Gene Namepredicted gene 11127
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL01859
Quality Score
Status
Chromosome17
Chromosomal Location36055816-36058371 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 36058011 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 59 (M59K)
Ref Sequence ENSEMBL: ENSMUSP00000109371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097331] [ENSMUST00000113742]
Predicted Effect probably benign
Transcript: ENSMUST00000097331
SMART Domains Protein: ENSMUSP00000094943
Gene: ENSMUSG00000073407

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
low complexity region 103 115 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000113742
AA Change: M59K

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109371
Gene: ENSMUSG00000079492
AA Change: M59K

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:MHC_I 26 204 6.4e-81 PFAM
IGc1 220 291 2.53e-23 SMART
transmembrane domain 306 328 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr4 A G 9: 104,086,137 probably benign Het
Ak7 A G 12: 105,745,297 M398V probably null Het
Angptl3 C T 4: 99,037,432 R332* probably null Het
Ano7 A G 1: 93,394,446 Y392C probably damaging Het
Arpc1b T C 5: 145,123,730 F18L probably damaging Het
Cdc23 G T 18: 34,651,406 P73Q probably benign Het
Cdkl1 A C 12: 69,760,129 L111R probably damaging Het
Cntnap2 A G 6: 46,988,721 D822G probably damaging Het
Col6a5 G A 9: 105,930,961 R963* probably null Het
Crocc T C 4: 141,029,290 D1008G probably benign Het
Dntt G T 19: 41,037,304 M120I probably benign Het
Dock1 A G 7: 135,077,161 Y1003C possibly damaging Het
Fam178b T A 1: 36,659,365 R92W probably damaging Het
Fermt2 A G 14: 45,459,956 V646A possibly damaging Het
Foxc1 T C 13: 31,808,723 S506P unknown Het
Gtpbp1 T A 15: 79,719,140 V610E probably benign Het
Hsdl2 T C 4: 59,601,569 probably null Het
Itgb8 T A 12: 119,189,945 R278S probably damaging Het
Kcnh7 T A 2: 62,721,788 D953V probably benign Het
Med13 A T 11: 86,283,751 D1749E possibly damaging Het
Mocos G T 18: 24,666,660 probably benign Het
Pcdhb20 T G 18: 37,504,563 N47K probably damaging Het
Phf21a T A 2: 92,328,356 F227L probably damaging Het
Piezo2 T C 18: 63,092,844 E907G probably benign Het
Pla2g4e G T 2: 120,182,733 Q369K possibly damaging Het
Ppp3cb A G 14: 20,509,449 I413T probably damaging Het
Ptgis A G 2: 167,214,806 probably null Het
Rasgrp1 A G 2: 117,289,418 V452A probably benign Het
Rbms3 T A 9: 116,959,538 D105V probably damaging Het
Rnase1 C A 14: 51,145,803 Q31H probably benign Het
Rnase13 G T 14: 51,922,303 N126K probably damaging Het
Sema5b G T 16: 35,647,109 V248L possibly damaging Het
Serpinb12 G A 1: 106,953,834 probably null Het
Slc4a11 A T 2: 130,684,994 L738Q probably damaging Het
Spta1 A T 1: 174,174,372 I23F probably damaging Het
Stk-ps2 A T 1: 46,030,042 noncoding transcript Het
Tcp1 A G 17: 12,922,684 E350G possibly damaging Het
Tonsl T C 15: 76,634,780 K518E probably damaging Het
Trim34a A G 7: 104,260,942 E317G probably damaging Het
Trit1 A G 4: 123,049,551 S335G probably benign Het
Usp28 G T 9: 49,024,021 E91* probably null Het
Vmn2r56 A G 7: 12,716,005 L102P probably damaging Het
Wwtr1 A C 3: 57,477,517 L203R possibly damaging Het
Zfp110 T C 7: 12,849,540 V705A possibly damaging Het
Zfp955a T C 17: 33,243,719 N67S probably benign Het
Other mutations in Gm11127
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02007:Gm11127 APN 17 36056330 missense possibly damaging 0.50
R1075:Gm11127 UTSW 17 36056146 missense probably benign 0.05
R1829:Gm11127 UTSW 17 36058004 missense probably damaging 1.00
R1944:Gm11127 UTSW 17 36058005 missense probably damaging 1.00
R4117:Gm11127 UTSW 17 36057604 missense probably damaging 1.00
R4584:Gm11127 UTSW 17 36057667 missense probably damaging 1.00
R4626:Gm11127 UTSW 17 36057896 frame shift probably null
R4649:Gm11127 UTSW 17 36057876 missense possibly damaging 0.90
R4864:Gm11127 UTSW 17 36058361 utr 3 prime probably benign
R5412:Gm11127 UTSW 17 36056044 missense probably benign 0.01
R5430:Gm11127 UTSW 17 36056075 missense probably benign 0.00
R5547:Gm11127 UTSW 17 36057904 missense possibly damaging 0.63
R5896:Gm11127 UTSW 17 36056344 missense probably benign 0.01
R5974:Gm11127 UTSW 17 36056785 missense probably benign 0.05
R6456:Gm11127 UTSW 17 36056610 missense probably damaging 1.00
R7073:Gm11127 UTSW 17 36058343 missense unknown
R7217:Gm11127 UTSW 17 36056343 missense probably benign 0.01
R7652:Gm11127 UTSW 17 36056783 missense probably damaging 1.00
R8267:Gm11127 UTSW 17 36056783 missense possibly damaging 0.52
Posted On2014-05-07