Incidental Mutation 'IGL03222:Ighv14-2'
ID 413670
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv14-2
Ensembl Gene ENSMUSG00000095583
Gene Name immunoglobulin heavy variable 14-2
Synonyms Gm16683
Accession Numbers
Essential gene? Probably non essential (E-score: 0.201) question?
Stock # IGL03222
Quality Score
Chromosome 12
Chromosomal Location 113994469-113994898 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113994494 bp (GRCm38)
Zygosity Heterozygous
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]
AlphaFold A0A075B5R7
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

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 (GRCm38) D344G probably benign Het
Aqr A T 2: 114,121,256 (GRCm38) L877Q probably damaging Het
Ctr9 T C 7: 111,043,050 (GRCm38) Y328H probably benign Het
Ebf2 A G 14: 67,411,992 (GRCm38) probably null Het
Ebpl A G 14: 61,342,233 (GRCm38) probably benign Het
Efcab5 A T 11: 77,137,367 (GRCm38) D515E probably benign Het
Gon4l A G 3: 88,895,643 (GRCm38) N1187S possibly damaging Het
Hmces A G 6: 87,925,692 (GRCm38) R172G probably damaging Het
Kcnn1 C T 8: 70,848,199 (GRCm38) R423H probably damaging Het
Muc13 T C 16: 33,798,965 (GRCm38) S28P unknown Het
Or5p70 A T 7: 108,395,186 (GRCm38) D22V possibly damaging Het
Or7e170 G T 9: 19,884,199 (GRCm38) Y35* probably null Het
Polg T C 7: 79,454,656 (GRCm38) T824A probably damaging Het
Rapgef2 A T 3: 79,087,995 (GRCm38) V782D probably damaging Het
Rin2 T A 2: 145,860,195 (GRCm38) C270* probably null Het
Sdk2 C A 11: 113,838,431 (GRCm38) V1107L probably benign Het
Sema5a T A 15: 32,628,158 (GRCm38) V539E probably benign Het
Tiam2 T C 17: 3,438,708 (GRCm38) S764P probably damaging Het
Tnfrsf11a A G 1: 105,821,490 (GRCm38) Y211C probably damaging Het
Ttn T C 2: 76,755,739 (GRCm38) T21883A probably damaging Het
Xkr5 T C 8: 18,937,299 (GRCm38) T117A probably damaging Het
Xkr9 T A 1: 13,701,281 (GRCm38) Y340* probably null Het
Other mutations in Ighv14-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01069:Ighv14-2 APN 12 113,994,759 (GRCm38) missense possibly damaging 0.47
IGL01685:Ighv14-2 APN 12 113,994,501 (GRCm38) missense probably damaging 0.99
IGL02994:Ighv14-2 APN 12 113,994,591 (GRCm38) missense probably benign 0.10
R4537:Ighv14-2 UTSW 12 113,994,892 (GRCm38) missense probably benign 0.27
R6004:Ighv14-2 UTSW 12 113,994,635 (GRCm38) missense probably damaging 0.98
R6294:Ighv14-2 UTSW 12 113,994,598 (GRCm38) missense probably benign 0.01
R9538:Ighv14-2 UTSW 12 113,994,585 (GRCm38) missense probably damaging 1.00
Posted On 2016-08-02