Incidental Mutation 'IGL02736:Ighv1-4'
ID305675
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv1-4
Ensembl Gene ENSMUSG00000095442
Gene Nameimmunoglobulin heavy variable 1-4
SynonymsGm16694
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.156) question?
Stock #IGL02736
Quality Score
Status
Chromosome12
Chromosomal Location114487136-114487569 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 114487252 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 79 (Y79H)
Ref Sequence ENSEMBL: ENSMUSP00000100274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103493]
Predicted Effect probably benign
Transcript: ENSMUST00000103493
AA Change: Y79H

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000100274
Gene: ENSMUSG00000095442
AA Change: Y79H

DomainStartEndE-ValueType
IGv 36 117 4.98e-31 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik T C 1: 37,637,873 E76G probably damaging Het
9430007A20Rik G A 4: 144,528,637 R209K probably benign Het
A830018L16Rik G A 1: 11,972,051 A416T probably benign Het
Akap12 A G 10: 4,355,637 I816V probably benign Het
Antxrl A G 14: 34,056,618 probably benign Het
Atp1a3 G A 7: 24,980,109 T920I probably damaging Het
Cd22 C T 7: 30,878,045 probably null Het
Cntn3 T A 6: 102,203,939 N765I probably damaging Het
Crebbp G A 16: 4,154,910 P307S probably benign Het
Dapk2 T A 9: 66,268,916 M333K probably benign Het
Decr1 T A 4: 15,930,952 T127S probably benign Het
Dnmbp A T 19: 43,849,770 probably benign Het
Erbin A G 13: 103,839,395 S664P probably damaging Het
Hectd4 G T 5: 121,342,719 C2941F possibly damaging Het
Matn3 T A 12: 8,955,422 D277E possibly damaging Het
Mgarp C A 3: 51,396,445 A36S possibly damaging Het
Mycbp2 A G 14: 103,114,242 probably benign Het
Nynrin G A 14: 55,870,909 A1158T probably damaging Het
Olfr427 T G 1: 174,099,647 I63S probably damaging Het
Olfr729 G A 14: 50,148,424 A150V probably benign Het
Palm2 C A 4: 57,709,721 A222E probably damaging Het
Pkd1l2 T C 8: 117,040,666 D1295G probably benign Het
Ppig A G 2: 69,736,094 I171M probably damaging Het
Ptprs A T 17: 56,458,248 V12E possibly damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rpgrip1l T A 8: 91,263,591 Q741L possibly damaging Het
Slco6d1 T C 1: 98,428,311 V157A possibly damaging Het
Sox6 A C 7: 115,580,640 D302E probably damaging Het
Spata3 T C 1: 86,024,435 V136A probably damaging Het
St6galnac6 G A 2: 32,614,971 R129H probably benign Het
Tmem184c A T 8: 77,597,846 D338E probably damaging Het
Tmem67 A G 4: 12,045,789 probably null Het
Ttn A T 2: 76,878,270 probably benign Het
Usp16 T C 16: 87,464,835 V113A possibly damaging Het
Utrn A G 10: 12,421,640 Y675H probably damaging Het
Zc3h4 T A 7: 16,417,383 Y117* probably null Het
Zc3h7b A T 15: 81,791,974 M694L probably benign Het
Zfp345 A T 2: 150,474,554 Y45N probably damaging Het
Other mutations in Ighv1-4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02380:Ighv1-4 APN 12 114487133 unclassified probably benign
IGL02661:Ighv1-4 APN 12 114487230 missense probably damaging 1.00
PIT4403001:Ighv1-4 UTSW 12 114487204 missense probably damaging 0.99
R0066:Ighv1-4 UTSW 12 114487369 missense possibly damaging 0.83
R2900:Ighv1-4 UTSW 12 114487168 missense probably benign 0.28
R3014:Ighv1-4 UTSW 12 114487149 missense possibly damaging 0.78
R4074:Ighv1-4 UTSW 12 114487527 missense possibly damaging 0.52
R5505:Ighv1-4 UTSW 12 114487437 missense possibly damaging 0.95
R6207:Ighv1-4 UTSW 12 114487522 critical splice donor site probably benign
R6309:Ighv1-4 UTSW 12 114487395 missense probably benign 0.33
R7286:Ighv1-4 UTSW 12 114487321 missense probably benign 0.03
R7299:Ighv1-4 UTSW 12 114487288 missense probably benign 0.24
R7300:Ighv1-4 UTSW 12 114487288 missense probably benign 0.24
Z1177:Ighv1-4 UTSW 12 114487404 missense possibly damaging 0.94
Posted On2015-04-16