Incidental Mutation 'IGL02888:Ighv1-76'
ID363042
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv1-76
Ensembl Gene ENSMUSG00000093896
Gene Nameimmunoglobulin heavy variable 1-76
SynonymsGm16813
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.118) question?
Stock #IGL02888
Quality Score
Status
Chromosome12
Chromosomal Location115847881-115848174 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 115847946 bp
ZygosityHeterozygous
Amino Acid Change Serine to Cysteine at position 96 (S96C)
Ref Sequence ENSEMBL: ENSMUSP00000143144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169155] [ENSMUST00000197537]
Predicted Effect probably damaging
Transcript: ENSMUST00000169155
AA Change: S77C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000133037
Gene: ENSMUSG00000093896
AA Change: S77C

DomainStartEndE-ValueType
IGv 17 98 9.15e-30 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000197537
AA Change: S96C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000143144
Gene: ENSMUSG00000093896
AA Change: S96C

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
IGv 36 117 3.9e-32 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197770
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T C 8: 43,651,573 H345R probably damaging Het
Afap1l1 T A 18: 61,748,808 Y272F probably damaging Het
AI661453 C A 17: 47,467,404 probably benign Het
Ajap1 T G 4: 153,432,261 I208L probably benign Het
Aldh3b2 G A 19: 3,980,083 V356M probably benign Het
Angptl7 T A 4: 148,496,331 probably benign Het
Atp2a3 G A 11: 72,977,128 probably benign Het
Birc2 T C 9: 7,819,558 D451G probably benign Het
Brpf3 G A 17: 28,828,391 R1043H probably damaging Het
Cd177 A G 7: 24,758,437 L132P probably damaging Het
Chsy3 A G 18: 59,409,995 D735G probably benign Het
Cldn8 A T 16: 88,562,383 I218K probably benign Het
Cltc T C 11: 86,757,297 probably benign Het
Col22a1 T C 15: 71,846,219 H619R unknown Het
Crxos G A 7: 15,902,930 E143K possibly damaging Het
Dcp1b A G 6: 119,220,087 probably benign Het
Ddc A G 11: 11,822,297 probably benign Het
Dnajc13 A T 9: 104,180,062 probably benign Het
Dnajc27 C T 12: 4,089,186 H75Y possibly damaging Het
Fgd3 C T 13: 49,281,816 probably null Het
Gcc2 A G 10: 58,294,828 D1414G probably damaging Het
Gtf3c2 G A 5: 31,173,825 P169L probably damaging Het
Lmbrd1 T A 1: 24,714,972 I206K possibly damaging Het
Lypd5 A G 7: 24,352,619 S120G probably damaging Het
Mgat4b T A 11: 50,232,332 Y249N probably damaging Het
Msh4 A T 3: 153,896,913 L32* probably null Het
Muc4 A G 16: 32,755,282 probably benign Het
Myo6 A G 9: 80,269,731 probably benign Het
Nenf T C 1: 191,309,921 T113A probably benign Het
Nup85 A G 11: 115,578,800 D75G possibly damaging Het
Nutm1 A T 2: 112,250,635 L438Q probably damaging Het
Oas1h A T 5: 120,861,547 I32F probably benign Het
Oasl1 G A 5: 114,937,182 V434M probably damaging Het
Olfr1412 T C 1: 92,589,203 L291P probably damaging Het
Olfr448 A G 6: 42,897,329 N293D probably damaging Het
Pde2a C A 7: 101,505,069 H549Q probably damaging Het
Phkb G T 8: 85,935,472 probably null Het
Pigm T C 1: 172,377,647 C317R probably damaging Het
Ppl A T 16: 5,100,407 S470R possibly damaging Het
Pramef17 G A 4: 143,994,099 R91W probably benign Het
Slc13a4 A T 6: 35,268,840 D623E probably benign Het
Stx11 A G 10: 12,941,615 S122P possibly damaging Het
Sytl3 A G 17: 6,733,084 T218A probably benign Het
Tango6 A G 8: 106,720,665 D565G probably damaging Het
Tex14 T C 11: 87,527,912 probably null Het
Tinag T C 9: 77,031,713 D161G probably benign Het
Vcpip1 T C 1: 9,724,786 D1120G probably damaging Het
Zfp446 G A 7: 12,979,328 A98T probably damaging Het
Other mutations in Ighv1-76
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4411:Ighv1-76 UTSW 12 115848111 missense probably damaging 1.00
R5869:Ighv1-76 UTSW 12 115848038 missense probably damaging 0.99
X0065:Ighv1-76 UTSW 12 115848184 unclassified probably benign
Posted On2015-12-18