Incidental Mutation 'IGL02315:Ighv1-67'
ID 287986
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv1-67
Ensembl Gene ENSMUSG00000095863
Gene Name immunoglobulin heavy variable V1-67
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # IGL02315
Quality Score
Status
Chromosome 12
Chromosomal Location 115567560-115567853 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 115567687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 56 (G56D)
Ref Sequence ENSEMBL: ENSMUSP00000100319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103538] [ENSMUST00000198646]
AlphaFold A0A075B5X6
Predicted Effect probably benign
Transcript: ENSMUST00000103538
AA Change: G56D

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000100319
Gene: ENSMUSG00000095863
AA Change: G56D

DomainStartEndE-ValueType
IGv 17 98 1.85e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000198646
AA Change: G75D

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000143248
Gene: ENSMUSG00000095863
AA Change: G75D

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 7.5e-28 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T A 2: 35,266,185 (GRCm39) I162F probably damaging Het
Akap8 T C 17: 32,524,475 (GRCm39) D607G probably benign Het
Ap2b1 G A 11: 83,227,625 (GRCm39) V327I probably damaging Het
Bmpr1b A G 3: 141,563,290 (GRCm39) V218A probably damaging Het
Cfap157 T A 2: 32,668,177 (GRCm39) D421V probably benign Het
Ctsm A G 13: 61,687,462 (GRCm39) V100A probably benign Het
Cwf19l2 C T 9: 3,410,030 (GRCm39) T53I probably damaging Het
Dst T C 1: 34,237,746 (GRCm39) C3663R probably damaging Het
Fbxo10 T A 4: 45,062,469 (GRCm39) H19L probably benign Het
Ghitm A T 14: 36,853,521 (GRCm39) N106K probably benign Het
Hivep2 T C 10: 14,006,983 (GRCm39) F1194L probably benign Het
Hpse2 A G 19: 42,955,386 (GRCm39) probably benign Het
Ikzf4 A G 10: 128,470,014 (GRCm39) F502S probably damaging Het
Lrrc24 A T 15: 76,602,506 (GRCm39) F126L probably damaging Het
Mapt G A 11: 104,218,904 (GRCm39) R355Q probably damaging Het
Mug1 T A 6: 121,817,126 (GRCm39) V65E probably benign Het
Myh6 T C 14: 55,191,291 (GRCm39) E850G probably damaging Het
Myh9 C A 15: 77,654,173 (GRCm39) V1211L probably benign Het
Naip2 T A 13: 100,297,744 (GRCm39) D764V probably damaging Het
Or8d2b G A 9: 38,789,353 (GRCm39) V294I probably damaging Het
Parp6 A G 9: 59,549,021 (GRCm39) probably benign Het
Ppp4r4 C T 12: 103,566,620 (GRCm39) probably benign Het
Pramel11 T C 4: 143,624,498 (GRCm39) probably benign Het
Pxylp1 A G 9: 96,721,196 (GRCm39) L56P probably damaging Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Skida1 T C 2: 18,050,816 (GRCm39) probably benign Het
Slc35d2 A G 13: 64,254,849 (GRCm39) S210P possibly damaging Het
Slit2 C T 5: 48,145,213 (GRCm39) T71M probably damaging Het
Spem2 A T 11: 69,708,191 (GRCm39) L258Q probably damaging Het
Stxbp2 C T 8: 3,685,607 (GRCm39) probably benign Het
Vit G A 17: 78,930,087 (GRCm39) V351I possibly damaging Het
Zwilch A G 9: 64,057,549 (GRCm39) S285P probably damaging Het
Zzef1 A T 11: 72,766,083 (GRCm39) R1537* probably null Het
Other mutations in Ighv1-67
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02688:Ighv1-67 APN 12 115,567,643 (GRCm39) missense probably damaging 1.00
R2896:Ighv1-67 UTSW 12 115,567,595 (GRCm39) missense probably damaging 0.96
R6766:Ighv1-67 UTSW 12 115,567,654 (GRCm39) missense possibly damaging 0.76
R7220:Ighv1-67 UTSW 12 115,567,666 (GRCm39) missense probably benign 0.45
R8335:Ighv1-67 UTSW 12 115,567,744 (GRCm39) missense probably damaging 0.97
R8680:Ighv1-67 UTSW 12 115,567,861 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16