Incidental Mutation 'IGL02671:Ighv1-47'
ID302910
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv1-47
Ensembl Gene ENSMUSG00000076709
Gene Nameimmunoglobulin heavy variable 1-47
SynonymsGm16966
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02671
Quality Score
Status
Chromosome12
Chromosomal Location114991108-114991580 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 114991398 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 21 (V21I)
Ref Sequence ENSEMBL: ENSMUSP00000142265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103518] [ENSMUST00000194865]
Predicted Effect probably benign
Transcript: ENSMUST00000103518
AA Change: V2I

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000100299
Gene: ENSMUSG00000076709
AA Change: V2I

DomainStartEndE-ValueType
IGv 17 98 2.53e-23 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000194865
AA Change: V21I

PolyPhen 2 Score 0.493 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142265
Gene: ENSMUSG00000076709
AA Change: V21I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 1e-25 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810043G02Rik A T 10: 77,980,550 probably benign Het
9030612E09Rik T A 10: 43,174,891 H60Q probably benign Het
Agrn C T 4: 156,174,561 probably benign Het
Angpt1 C T 15: 42,676,394 R23H possibly damaging Het
Cadps T A 14: 12,491,824 E775D probably damaging Het
Cdc42bpa T A 1: 180,061,822 M211K probably benign Het
Clec16a A G 16: 10,627,381 M77V probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp27b1 G T 10: 127,051,043 probably null Het
Eef1d A G 15: 75,895,805 I240T probably damaging Het
Fras1 T A 5: 96,728,616 F2403I possibly damaging Het
Kank1 T C 19: 25,428,095 L1159P probably damaging Het
Kif12 T C 4: 63,170,457 E202G probably benign Het
Kif17 A G 4: 138,288,061 D315G possibly damaging Het
Mcam T C 9: 44,137,034 probably benign Het
Mpdz A T 4: 81,290,273 D1778E probably damaging Het
Numbl C T 7: 27,264,902 R46W probably damaging Het
Olfr213 C T 6: 116,541,143 T230I possibly damaging Het
Olfr366 A T 2: 37,220,245 Y252F probably damaging Het
Pde3b T C 7: 114,523,345 V716A possibly damaging Het
Plcg1 T A 2: 160,755,752 Y771* probably null Het
Pramel5 A G 4: 144,273,112 V135A probably benign Het
Slu7 A G 11: 43,445,475 probably null Het
Taf2 C T 15: 55,034,176 V919I probably benign Het
Tcf12 G A 9: 72,109,717 T36M probably damaging Het
Tlr11 A T 14: 50,360,692 D45V probably damaging Het
Tmem132b A G 5: 125,778,727 T508A probably damaging Het
Trf C T 9: 103,211,982 E569K probably benign Het
Trim24 T C 6: 37,960,784 C875R probably damaging Het
Usf3 A G 16: 44,221,781 N2208S probably damaging Het
Usp14 A G 18: 9,997,196 V436A probably damaging Het
Vwa5b1 G A 4: 138,569,126 R1197* probably null Het
Other mutations in Ighv1-47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01928:Ighv1-47 APN 12 114991293 missense probably benign
IGL02642:Ighv1-47 APN 12 114991224 missense probably damaging 1.00
PIT4377001:Ighv1-47 UTSW 12 114991238 missense probably benign 0.01
Posted On2015-04-16