Incidental Mutation 'IGL01102:Gm4841'
ID53172
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm4841
Ensembl Gene ENSMUSG00000068606
Gene Namepredicted gene 4841
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL01102
Quality Score
Status
Chromosome18
Chromosomal Location60268301-60273267 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 60270052 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 323 (V323A)
Ref Sequence ENSEMBL: ENSMUSP00000087727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090260]
Predicted Effect probably damaging
Transcript: ENSMUST00000090260
AA Change: V323A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000087727
Gene: ENSMUSG00000068606
AA Change: V323A

DomainStartEndE-ValueType
Pfam:IIGP 36 409 1.2e-129 PFAM
Pfam:MMR_HSR1 72 185 2.2e-11 PFAM
Pfam:Roc 72 188 1.9e-8 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 C T 2: 25,433,956 probably benign Het
Bloc1s2-ps C T 2: 52,619,902 A50V probably benign Het
Col4a3 A G 1: 82,669,720 D455G unknown Het
Col4a3 A G 1: 82,670,255 I496V unknown Het
Coro1c A T 5: 113,849,614 M222K probably benign Het
Dnah5 T A 15: 28,410,003 probably null Het
Emc4 C A 2: 112,367,526 probably benign Het
Fam160a1 A G 3: 85,665,501 probably benign Het
Fcer2a T C 8: 3,688,842 D32G possibly damaging Het
Garnl3 T C 2: 33,006,816 K559E probably damaging Het
Gckr T C 5: 31,309,037 L452P probably damaging Het
Gm13119 A G 4: 144,363,625 I412V probably benign Het
Gm6902 T A 7: 23,273,662 I147L probably benign Het
Gpr75 T C 11: 30,891,755 V220A probably benign Het
Hdac6 A G X: 7,946,998 S42P probably benign Het
Hdhd2 A G 18: 76,956,911 N128S probably damaging Het
Hsd3b2 G T 3: 98,711,679 R317S probably damaging Het
Il23r T A 6: 67,423,925 I474F probably damaging Het
Itga5 T C 15: 103,346,675 Y954C probably benign Het
Itgam T C 7: 128,080,273 F196L possibly damaging Het
Mapkbp1 T C 2: 120,021,858 V957A possibly damaging Het
Mblac2 T C 13: 81,750,006 M167T probably damaging Het
Mterf4 C T 1: 93,305,090 R13H possibly damaging Het
Npffr1 T G 10: 61,614,208 V87G probably damaging Het
Olfr186 G A 16: 59,027,829 P26L probably benign Het
Olfr813 A G 10: 129,856,628 I37V probably benign Het
Phldb2 A G 16: 45,825,060 L386P probably damaging Het
Ppp1r13b A G 12: 111,833,219 I708T probably benign Het
Ramp2 T A 11: 101,247,627 Y85N probably benign Het
Rnf217 A G 10: 31,608,503 Y228H probably damaging Het
Rock1 T G 18: 10,080,502 D1014A probably benign Het
Scyl3 T A 1: 163,934,769 C101* probably null Het
Sema6b G T 17: 56,132,761 L27I possibly damaging Het
Slc10a5 A G 3: 10,335,309 V97A probably benign Het
Strc C A 2: 121,365,060 R1636L probably benign Het
Tm9sf1 T A 14: 55,642,767 T58S probably damaging Het
Tmem106c T C 15: 97,966,944 Y85H probably damaging Het
Uhrf1bp1l T C 10: 89,791,378 L435P probably benign Het
Vmn2r9 A G 5: 108,842,945 probably null Het
Vps13a A G 19: 16,651,417 probably null Het
Zfp976 A T 7: 42,613,909 L168* probably null Het
Other mutations in Gm4841
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02043:Gm4841 APN 18 60270965 missense probably benign 0.05
IGL02751:Gm4841 APN 18 60271021 utr 5 prime probably benign
R0277:Gm4841 UTSW 18 60270646 missense possibly damaging 0.83
R0323:Gm4841 UTSW 18 60270646 missense possibly damaging 0.83
R0616:Gm4841 UTSW 18 60270937 missense probably benign 0.00
R0882:Gm4841 UTSW 18 60269780 missense possibly damaging 0.92
R1778:Gm4841 UTSW 18 60270948 nonsense probably null
R2035:Gm4841 UTSW 18 60269857 missense probably benign 0.29
R2513:Gm4841 UTSW 18 60270905 missense probably damaging 1.00
R4242:Gm4841 UTSW 18 60270683 missense probably benign 0.05
R4295:Gm4841 UTSW 18 60270190 missense probably benign 0.01
R4574:Gm4841 UTSW 18 60269926 missense probably benign 0.02
R4720:Gm4841 UTSW 18 60270063 missense probably benign 0.00
R5273:Gm4841 UTSW 18 60270743 missense probably benign 0.00
R5314:Gm4841 UTSW 18 60270292 missense probably benign 0.13
R5378:Gm4841 UTSW 18 60271041 critical splice acceptor site probably null
R5902:Gm4841 UTSW 18 60270796 missense probably damaging 1.00
R5908:Gm4841 UTSW 18 60270434 missense possibly damaging 0.89
R6361:Gm4841 UTSW 18 60270760 missense probably damaging 1.00
R6677:Gm4841 UTSW 18 60270580 missense probably damaging 1.00
Posted On2013-06-21