Incidental Mutation 'IGL02895:Ighv1-39'
ID363371
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv1-39
Ensembl Gene ENSMUSG00000095130
Gene Nameimmunoglobulin heavy variable 1-39
SynonymsGm16964
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.240) question?
Stock #IGL02895
Quality Score
Status
Chromosome12
Chromosomal Location114914599-114915032 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 114914682 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 90 (T90A)
Ref Sequence ENSEMBL: ENSMUSP00000100296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103515]
Predicted Effect probably damaging
Transcript: ENSMUST00000103515
AA Change: T90A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000100296
Gene: ENSMUSG00000095130
AA Change: T90A

DomainStartEndE-ValueType
IGv 36 117 1.17e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192755
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A G 15: 8,232,107 probably benign Het
Ahctf1 C T 1: 179,793,811 E130K probably damaging Het
Atf7ip C A 6: 136,560,688 S306R probably damaging Het
Cpd A G 11: 76,785,203 V1208A probably benign Het
Ctsl C T 13: 64,366,512 A195T probably damaging Het
Dennd2c T C 3: 103,137,203 Y367H possibly damaging Het
Endod1 T A 9: 14,356,870 T440S probably benign Het
Gm12695 T C 4: 96,723,949 R526G probably damaging Het
Kdm2a G A 19: 4,362,902 R19C probably damaging Het
Klra1 C T 6: 130,375,240 E180K possibly damaging Het
Odam A G 5: 87,885,864 Q21R probably benign Het
Olfr1205 A G 2: 88,831,642 Y175C probably damaging Het
Olfr145 G A 9: 37,897,982 V193I probably benign Het
Plk1 A G 7: 122,169,166 E504G possibly damaging Het
Rtl3 T C X: 106,839,544 I37M possibly damaging Het
Srebf2 A G 15: 82,147,467 E22G possibly damaging Het
Tmem74b A G 2: 151,706,391 S13G probably benign Het
Utp14b T C 1: 78,664,607 V74A possibly damaging Het
Znrf3 T C 11: 5,289,085 M93V probably damaging Het
Other mutations in Ighv1-39
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3982:Ighv1-39 UTSW 12 114914631 missense possibly damaging 0.87
R6345:Ighv1-39 UTSW 12 114914859 missense possibly damaging 0.79
R7387:Ighv1-39 UTSW 12 114914868 missense probably benign 0.06
Posted On2015-12-18