Incidental Mutation 'IGL02380:Ighv1-4'
ID 291356
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv1-4
Ensembl Gene ENSMUSG00000095442
Gene Name immunoglobulin heavy variable 1-4
Synonyms Gm16694
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.379) question?
Stock # IGL02380
Quality Score
Status
Chromosome 12
Chromosomal Location 114450756-114451049 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 114450753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000100274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103493]
AlphaFold A0A075B5T4
Predicted Effect probably benign
Transcript: ENSMUST00000103493
SMART Domains Protein: ENSMUSP00000100274
Gene: ENSMUSG00000095442

DomainStartEndE-ValueType
IGv 36 117 4.98e-31 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik C A 7: 40,643,968 (GRCm39) P546T possibly damaging Het
Abca13 T C 11: 9,241,599 (GRCm39) I1154T possibly damaging Het
Abca8a A G 11: 109,969,641 (GRCm39) probably benign Het
Acsm5 A T 7: 119,136,509 (GRCm39) Q360L probably benign Het
Adamtsl5 T C 10: 80,177,612 (GRCm39) E350G probably benign Het
Adgrl2 A T 3: 148,534,125 (GRCm39) L1017* probably null Het
Aqr T C 2: 113,940,417 (GRCm39) D1243G probably damaging Het
Arhgef17 G T 7: 100,578,650 (GRCm39) P766Q possibly damaging Het
Bclaf1 T C 10: 20,201,113 (GRCm39) V413A possibly damaging Het
Bcr A G 10: 75,011,131 (GRCm39) D14G probably benign Het
Cadps2 C T 6: 23,287,731 (GRCm39) V1190I probably benign Het
Cdh9 A G 15: 16,856,086 (GRCm39) I709V possibly damaging Het
Cnbd1 C A 4: 18,887,748 (GRCm39) probably null Het
Cnbd1 T A 4: 18,887,749 (GRCm39) probably null Het
Col4a3 T C 1: 82,650,509 (GRCm39) probably benign Het
Coro1a T A 7: 126,302,288 (GRCm39) K20* probably null Het
Crb2 T A 2: 37,673,447 (GRCm39) D114E probably damaging Het
Dnah6 C A 6: 73,053,623 (GRCm39) K2870N probably benign Het
Fpr3 A G 17: 18,191,254 (GRCm39) H175R probably benign Het
Gk5 T G 9: 96,032,533 (GRCm39) S248A possibly damaging Het
Grm4 T A 17: 27,653,635 (GRCm39) I772F probably damaging Het
Gstt4 A G 10: 75,653,073 (GRCm39) I163T possibly damaging Het
Hr A G 14: 70,795,201 (GRCm39) R278G probably damaging Het
Igfbp5 T A 1: 72,903,108 (GRCm39) R156* probably null Het
Insyn2a A T 7: 134,500,873 (GRCm39) probably null Het
Kcna2 A C 3: 107,012,274 (GRCm39) Q285P probably benign Het
Klf5 A T 14: 99,538,894 (GRCm39) R102S possibly damaging Het
Ldb1 A T 19: 46,022,929 (GRCm39) M252K possibly damaging Het
Lrrc66 T C 5: 73,787,009 (GRCm39) I114V possibly damaging Het
Map1b A T 13: 99,567,651 (GRCm39) I1690N unknown Het
Myo1a A G 10: 127,550,354 (GRCm39) T565A probably benign Het
Nt5c T C 11: 115,382,127 (GRCm39) D84G possibly damaging Het
Pde1b A G 15: 103,428,417 (GRCm39) N51S possibly damaging Het
Pikfyve T A 1: 65,295,180 (GRCm39) L1437Q probably damaging Het
Pld5 C T 1: 175,967,610 (GRCm39) V82I probably damaging Het
Psmb6 T A 11: 70,416,737 (GRCm39) N42K probably benign Het
Slco3a1 G A 7: 74,204,238 (GRCm39) S34F probably damaging Het
Slfn9 A G 11: 82,872,046 (GRCm39) Y897H probably benign Het
Spag6l T C 16: 16,581,033 (GRCm39) probably null Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tmem215 A T 4: 40,474,534 (GRCm39) I204F probably benign Het
Txnl1 A G 18: 63,807,114 (GRCm39) probably null Het
Ube2q2 T A 9: 55,070,296 (GRCm39) D79E probably benign Het
Ugt2a3 T C 5: 87,484,658 (GRCm39) D122G probably benign Het
Vmn2r73 A T 7: 85,507,383 (GRCm39) I643K probably benign Het
Xkrx T A X: 133,051,388 (GRCm39) H421L probably benign Het
Other mutations in Ighv1-4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02661:Ighv1-4 APN 12 114,450,850 (GRCm39) missense probably damaging 1.00
IGL02736:Ighv1-4 APN 12 114,450,872 (GRCm39) missense probably benign 0.12
PIT4403001:Ighv1-4 UTSW 12 114,450,824 (GRCm39) missense probably damaging 0.99
R0066:Ighv1-4 UTSW 12 114,450,989 (GRCm39) missense possibly damaging 0.83
R2900:Ighv1-4 UTSW 12 114,450,788 (GRCm39) missense probably benign 0.28
R3014:Ighv1-4 UTSW 12 114,450,769 (GRCm39) missense possibly damaging 0.78
R4074:Ighv1-4 UTSW 12 114,451,147 (GRCm39) missense possibly damaging 0.52
R5505:Ighv1-4 UTSW 12 114,451,057 (GRCm39) missense possibly damaging 0.95
R6207:Ighv1-4 UTSW 12 114,451,142 (GRCm39) critical splice donor site probably benign
R6309:Ighv1-4 UTSW 12 114,451,015 (GRCm39) missense probably benign 0.33
R7286:Ighv1-4 UTSW 12 114,450,941 (GRCm39) missense probably benign 0.03
R7299:Ighv1-4 UTSW 12 114,450,908 (GRCm39) missense probably benign 0.24
R7300:Ighv1-4 UTSW 12 114,450,908 (GRCm39) missense probably benign 0.24
R7917:Ighv1-4 UTSW 12 114,451,165 (GRCm39) missense possibly damaging 0.55
R8374:Ighv1-4 UTSW 12 114,450,899 (GRCm39) missense probably benign 0.12
R9010:Ighv1-4 UTSW 12 114,450,949 (GRCm39) missense possibly damaging 0.88
R9127:Ighv1-4 UTSW 12 114,450,879 (GRCm39) nonsense probably null
Z1177:Ighv1-4 UTSW 12 114,451,024 (GRCm39) missense possibly damaging 0.94
Posted On 2015-04-16