Incidental Mutation 'IGL02635:Ighv1-50'
ID 301461
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv1-50
Ensembl Gene ENSMUSG00000094198
Gene Name immunoglobulin heavy variable 1-50
Synonyms Gm16829
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.291) question?
Stock # IGL02635
Quality Score
Status
Chromosome 12
Chromosomal Location 115083368-115083661 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 115083615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 35 (A35V)
Ref Sequence ENSEMBL: ENSMUSP00000100302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103521]
AlphaFold A0A075B5W1
Predicted Effect probably benign
Transcript: ENSMUST00000103521
AA Change: A35V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000100302
Gene: ENSMUSG00000094198
AA Change: A35V

DomainStartEndE-ValueType
IGv 36 117 4.98e-31 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730018C14Rik A C 12: 112,381,586 (GRCm39) noncoding transcript Het
Abcc12 C T 8: 87,236,311 (GRCm39) probably benign Het
Akap9 T C 5: 4,120,500 (GRCm39) S3639P possibly damaging Het
Ankar C T 1: 72,691,590 (GRCm39) V1124I possibly damaging Het
AW209491 C T 13: 14,811,852 (GRCm39) A235V possibly damaging Het
Cask A T X: 13,581,009 (GRCm39) D58E probably damaging Het
Cdhr4 T A 9: 107,870,070 (GRCm39) M25K probably benign Het
Clasp2 A G 9: 113,737,910 (GRCm39) I1096V probably damaging Het
Fam234a T A 17: 26,433,427 (GRCm39) I410F possibly damaging Het
Gbe1 T C 16: 70,365,902 (GRCm39) L693P probably damaging Het
Golgb1 G T 16: 36,735,375 (GRCm39) V1541L probably benign Het
Gpr143 G A X: 151,591,257 (GRCm39) E382K probably damaging Het
Gpr171 C T 3: 59,005,017 (GRCm39) V253I probably benign Het
Gsap T A 5: 21,494,814 (GRCm39) W10R probably damaging Het
Hsd17b12 T A 2: 93,913,556 (GRCm39) D116V possibly damaging Het
Ifih1 A T 2: 62,442,173 (GRCm39) L348Q probably damaging Het
Lrcol1 A C 5: 110,502,459 (GRCm39) M112L probably benign Het
Lrrc59 T A 11: 94,534,282 (GRCm39) V280E probably damaging Het
Med17 A T 9: 15,185,845 (GRCm39) I223K probably damaging Het
Oog3 T C 4: 143,884,715 (GRCm39) N407S probably damaging Het
Or4e1 T C 14: 52,701,251 (GRCm39) I72V probably damaging Het
Pear1 T C 3: 87,657,453 (GRCm39) *1035W probably null Het
Pkd1 T A 17: 24,791,785 (GRCm39) F1157L probably damaging Het
Pkp4 T C 2: 59,135,842 (GRCm39) probably benign Het
Ppl T C 16: 4,907,631 (GRCm39) E888G probably benign Het
Prh1 G A 6: 132,549,246 (GRCm39) G251E unknown Het
Prkar2a A G 9: 108,605,476 (GRCm39) E178G probably damaging Het
Rfx6 A T 10: 51,592,122 (GRCm39) T352S possibly damaging Het
S1pr1 T C 3: 115,505,739 (GRCm39) K285R probably benign Het
Slc12a1 A G 2: 125,067,898 (GRCm39) H995R probably benign Het
Slc25a54 T A 3: 109,020,133 (GRCm39) N382K possibly damaging Het
Snrnp48 T G 13: 38,393,845 (GRCm39) probably benign Het
Spg11 T C 2: 121,943,549 (GRCm39) D201G possibly damaging Het
Stox1 T C 10: 62,500,685 (GRCm39) D625G probably benign Het
Supt6 T C 11: 78,103,565 (GRCm39) H1380R probably damaging Het
Tcp1 T A 17: 13,142,296 (GRCm39) M430K probably benign Het
Tlr12 A T 4: 128,510,609 (GRCm39) V547E probably damaging Het
Tmem255b G T 8: 13,505,195 (GRCm39) D167Y probably damaging Het
Trpc7 T C 13: 56,923,981 (GRCm39) R735G probably damaging Het
Trpm1 A G 7: 63,848,972 (GRCm39) T73A probably benign Het
Ubr3 A T 2: 69,850,827 (GRCm39) L1748F probably damaging Het
Xirp2 T C 2: 67,338,254 (GRCm39) I165T possibly damaging Het
Ybx1 T C 4: 119,136,286 (GRCm39) N282S possibly damaging Het
Zdhhc12 T A 2: 29,983,531 (GRCm39) I24F probably damaging Het
Other mutations in Ighv1-50
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4878:Ighv1-50 UTSW 12 115,083,567 (GRCm39) missense probably benign 0.04
R5134:Ighv1-50 UTSW 12 115,083,653 (GRCm39) missense probably benign 0.06
R6927:Ighv1-50 UTSW 12 115,083,794 (GRCm39) missense probably damaging 0.98
R7146:Ighv1-50 UTSW 12 115,083,396 (GRCm39) missense probably benign 0.27
Posted On 2015-04-16