Incidental Mutation 'IGL01331:Ighv1-59'
ID 74497
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv1-59
Ensembl Gene ENSMUSG00000095197
Gene Name immunoglobulin heavy variable V1-59
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # IGL01331
Quality Score
Status
Chromosome 12
Chromosomal Location 115298702-115299134 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 115298992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 21 (V21I)
Ref Sequence ENSEMBL: ENSMUSP00000141949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103530] [ENSMUST00000195359]
AlphaFold A0A075B5X0
Predicted Effect probably benign
Transcript: ENSMUST00000103530
AA Change: V20I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000100311
Gene: ENSMUSG00000095197
AA Change: V20I

DomainStartEndE-ValueType
IGv 35 116 1.01e-31 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000195359
AA Change: V21I

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141949
Gene: ENSMUSG00000095197
AA Change: V21I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 4e-34 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Clca3a1 G A 3: 144,453,273 (GRCm39) T517M probably damaging Het
Clec4g T C 8: 3,767,190 (GRCm39) probably benign Het
Cmya5 C T 13: 93,233,454 (GRCm39) E545K possibly damaging Het
Cntn6 A T 6: 104,751,484 (GRCm39) D380V probably damaging Het
Col9a2 C T 4: 120,902,389 (GRCm39) P209S possibly damaging Het
Cyp2b9 T C 7: 25,887,140 (GRCm39) V183A probably damaging Het
Dpt T C 1: 164,624,379 (GRCm39) Y27H unknown Het
Dusp16 T C 6: 134,695,067 (GRCm39) Q588R possibly damaging Het
Emg1 A G 6: 124,682,033 (GRCm39) S164P probably benign Het
Foxk1 G A 5: 142,439,344 (GRCm39) R428Q probably damaging Het
Frmd4a T A 2: 4,607,036 (GRCm39) M667K probably benign Het
Gpr55 T A 1: 85,868,915 (GRCm39) probably benign Het
Gtpbp8 A G 16: 44,560,494 (GRCm39) I162T probably benign Het
Ipo11 T A 13: 106,932,254 (GRCm39) Y938F possibly damaging Het
Map4 G T 9: 109,863,869 (GRCm39) V365L probably benign Het
Mboat1 C A 13: 30,403,684 (GRCm39) probably benign Het
Med12 A G X: 100,324,360 (GRCm39) E649G possibly damaging Het
Nfkbie T C 17: 45,869,495 (GRCm39) V150A probably benign Het
Or51ai2 A G 7: 103,586,782 (GRCm39) Y65C possibly damaging Het
Or8k22 A C 2: 86,163,048 (GRCm39) Y217* probably null Het
Prdm1 T A 10: 44,317,970 (GRCm39) K299N possibly damaging Het
Ribc1 T C X: 150,788,102 (GRCm39) T291A probably benign Het
Rps6kc1 G T 1: 190,532,549 (GRCm39) N484K possibly damaging Het
Serpina3k C A 12: 104,309,369 (GRCm39) A271D probably benign Het
Spata18 G T 5: 73,827,024 (GRCm39) R321L probably damaging Het
Styxl2 C A 1: 165,935,749 (GRCm39) V150L probably damaging Het
Syne2 C A 12: 75,976,027 (GRCm39) probably benign Het
Syt17 T A 7: 118,007,389 (GRCm39) I302F probably damaging Het
Tgm6 A G 2: 129,985,538 (GRCm39) probably null Het
Tmc2 A G 2: 130,074,276 (GRCm39) Y323C probably damaging Het
Tnc T C 4: 63,901,112 (GRCm39) D1452G probably damaging Het
Ttn A G 2: 76,620,022 (GRCm39) I7555T probably damaging Het
Ugt2b36 A T 5: 87,238,801 (GRCm39) W131R probably damaging Het
Vmn2r75 A T 7: 85,820,870 (GRCm39) C21* probably null Het
Zfp592 T A 7: 80,691,296 (GRCm39) C1158* probably null Het
Other mutations in Ighv1-59
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5697:Ighv1-59 UTSW 12 115,298,968 (GRCm39) missense possibly damaging 0.65
R6193:Ighv1-59 UTSW 12 115,298,786 (GRCm39) missense probably damaging 1.00
R6512:Ighv1-59 UTSW 12 115,299,003 (GRCm39) missense probably damaging 0.98
R8300:Ighv1-59 UTSW 12 115,298,987 (GRCm39) missense probably damaging 0.96
R9260:Ighv1-59 UTSW 12 115,298,737 (GRCm39) missense probably benign 0.35
Posted On 2013-10-07