Incidental Mutation 'IGL02661:Ighv1-4'
ID 302534
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 # IGL02661
Quality Score
Status
Chromosome 12
Chromosomal Location 114450756-114451049 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 114450850 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Threonine at position 86 (K86T)
Ref Sequence ENSEMBL: ENSMUSP00000100274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103493]
AlphaFold A0A075B5T4
Predicted Effect probably damaging
Transcript: ENSMUST00000103493
AA Change: K86T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000100274
Gene: ENSMUSG00000095442
AA Change: K86T

DomainStartEndE-ValueType
IGv 36 117 4.98e-31 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034E13Rik G T 18: 52,793,566 (GRCm39) W33L probably damaging Het
Adam34 A T 8: 44,104,572 (GRCm39) C358S probably damaging Het
Ak5 C A 3: 152,169,593 (GRCm39) V561F probably benign Het
Ap1s1 T C 5: 137,066,327 (GRCm39) D158G probably benign Het
Bard1 A G 1: 71,114,469 (GRCm39) S171P probably damaging Het
Bsn A C 9: 107,984,135 (GRCm39) Y534* probably null Het
Clcn4 A T 7: 7,294,730 (GRCm39) probably null Het
Cyp2j7 T C 4: 96,124,887 (GRCm39) T4A probably benign Het
Dnajc10 T A 2: 80,157,084 (GRCm39) probably benign Het
Dtl G T 1: 191,273,483 (GRCm39) T475N probably benign Het
Eif3m T C 2: 104,835,314 (GRCm39) Y120C probably damaging Het
Gab1 A G 8: 81,515,566 (GRCm39) S251P probably damaging Het
Gba1 T A 3: 89,110,834 (GRCm39) V14E probably benign Het
Ggcx C T 6: 72,395,343 (GRCm39) P145S possibly damaging Het
Gm13889 G A 2: 93,787,024 (GRCm39) T150I probably benign Het
Gm4978 C A 9: 69,358,180 (GRCm39) probably benign Het
Herc2 A G 7: 55,762,821 (GRCm39) D850G probably damaging Het
Hspa1l A G 17: 35,196,251 (GRCm39) I97V probably benign Het
Ints4 C A 7: 97,144,912 (GRCm39) L175I probably benign Het
Kif13b T G 14: 65,005,140 (GRCm39) V1144G probably benign Het
Kpna3 T A 14: 61,610,398 (GRCm39) probably benign Het
Man2c1 A G 9: 57,044,766 (GRCm39) D371G probably damaging Het
Mtf1 T C 4: 124,718,902 (GRCm39) L305P probably damaging Het
Myo15b T G 11: 115,774,895 (GRCm39) V2139G probably benign Het
Nalcn T C 14: 123,830,321 (GRCm39) probably benign Het
Neurod2 T C 11: 98,218,405 (GRCm39) Q253R possibly damaging Het
Nfkbil1 C A 17: 35,439,647 (GRCm39) A289S probably benign Het
Or4k35 T A 2: 111,099,811 (GRCm39) R300S possibly damaging Het
Paxbp1 A T 16: 90,827,413 (GRCm39) I474K probably benign Het
Pde6c A T 19: 38,169,248 (GRCm39) I798F probably damaging Het
Pon3 T A 6: 5,256,205 (GRCm39) T8S probably benign Het
Prkdc A G 16: 15,587,689 (GRCm39) T2525A possibly damaging Het
Rnase10 T G 14: 51,247,273 (GRCm39) V180G probably damaging Het
Rreb1 T A 13: 38,114,778 (GRCm39) C712* probably null Het
Scamp2 T C 9: 57,494,697 (GRCm39) probably benign Het
Serpina3i A T 12: 104,231,515 (GRCm39) K51* probably null Het
Smyd4 C A 11: 75,281,767 (GRCm39) C413* probably null Het
Spata2 C T 2: 167,325,281 (GRCm39) V513M probably damaging Het
Sri T A 5: 8,113,252 (GRCm39) probably benign Het
Urah A T 7: 140,417,618 (GRCm39) K119M probably damaging Het
Wdr19 C T 5: 65,403,151 (GRCm39) T1005I probably benign Het
Other mutations in Ighv1-4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02380:Ighv1-4 APN 12 114,450,753 (GRCm39) unclassified probably benign
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