Incidental Mutation 'IGL03222:Ighv14-2'
ID413670
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv14-2
Ensembl Gene ENSMUSG00000095583
Gene Nameimmunoglobulin heavy variable 14-2
SynonymsGm16683
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.197) question?
Stock #IGL03222
Quality Score
Status
Chromosome12
Chromosomal Location113994469-113994898 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 113994494 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 109 (D109G)
Ref Sequence ENSEMBL: ENSMUSP00000100248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103467]
Predicted Effect possibly damaging
Transcript: ENSMUST00000103467
AA Change: D109G

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000100248
Gene: ENSMUSG00000095583
AA Change: D109G

DomainStartEndE-ValueType
IGv 36 117 5.95e-29 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik A G X: 127,395,470 D344G probably benign Het
Aqr A T 2: 114,121,256 L877Q probably damaging Het
Ctr9 T C 7: 111,043,050 Y328H probably benign Het
Ebf2 A G 14: 67,411,992 probably null Het
Ebpl A G 14: 61,342,233 probably benign Het
Efcab5 A T 11: 77,137,367 D515E probably benign Het
Gon4l A G 3: 88,895,643 N1187S possibly damaging Het
Hmces A G 6: 87,925,692 R172G probably damaging Het
Kcnn1 C T 8: 70,848,199 R423H probably damaging Het
Muc13 T C 16: 33,798,965 S28P unknown Het
Olfr495 A T 7: 108,395,186 D22V possibly damaging Het
Olfr862 G T 9: 19,884,199 Y35* probably null Het
Polg T C 7: 79,454,656 T824A probably damaging Het
Rapgef2 A T 3: 79,087,995 V782D probably damaging Het
Rin2 T A 2: 145,860,195 C270* probably null Het
Sdk2 C A 11: 113,838,431 V1107L probably benign Het
Sema5a T A 15: 32,628,158 V539E probably benign Het
Tiam2 T C 17: 3,438,708 S764P probably damaging Het
Tnfrsf11a A G 1: 105,821,490 Y211C probably damaging Het
Ttn T C 2: 76,755,739 T21883A probably damaging Het
Xkr5 T C 8: 18,937,299 T117A probably damaging Het
Xkr9 T A 1: 13,701,281 Y340* probably null Het
Other mutations in Ighv14-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01069:Ighv14-2 APN 12 113994759 missense possibly damaging 0.47
IGL01685:Ighv14-2 APN 12 113994501 missense probably damaging 0.99
IGL02994:Ighv14-2 APN 12 113994591 missense probably benign 0.10
R4537:Ighv14-2 UTSW 12 113994892 missense probably benign 0.27
R6004:Ighv14-2 UTSW 12 113994635 missense probably damaging 0.98
R6294:Ighv14-2 UTSW 12 113994598 missense probably benign 0.01
Posted On2016-08-02