Incidental Mutation 'IGL02362:Ighv1-64'
ID290516
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv1-64
Ensembl Gene ENSMUSG00000094088
Gene Nameimmunoglobulin heavy variable 1-64
SynonymsGm16865
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.205) question?
Stock #IGL02362
Quality Score
Status
Chromosome12
Chromosomal Location115507587-115507977 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 115507616 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 94 (S94P)
Ref Sequence ENSEMBL: ENSMUSP00000100316 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103535]
Predicted Effect probably benign
Transcript: ENSMUST00000103535
AA Change: S94P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000100316
Gene: ENSMUSG00000094088
AA Change: S94P

DomainStartEndE-ValueType
IGv 36 117 2.29e-30 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik T C 2: 111,211,651 probably benign Het
Adam3 C A 8: 24,697,191 C428F probably damaging Het
Alas1 T C 9: 106,236,639 Y469C probably damaging Het
Asxl1 C T 2: 153,401,786 L1419F probably benign Het
Bcan C T 3: 87,994,142 D418N possibly damaging Het
Cdc42bpg A G 19: 6,310,809 D199G possibly damaging Het
Chst15 T C 7: 132,266,672 N340D probably benign Het
Col12a1 T G 9: 79,630,711 probably benign Het
Cyp2c67 T A 19: 39,643,405 H116L probably benign Het
Cyp2c67 G A 19: 39,617,382 R357* probably null Het
Ears2 T C 7: 122,044,550 D395G probably benign Het
Fam227a A T 15: 79,643,938 probably benign Het
Fap A G 2: 62,573,498 V11A probably benign Het
Ganc A G 2: 120,433,757 D397G probably damaging Het
Gjb6 C A 14: 57,124,295 G170C possibly damaging Het
Gm13023 A G 4: 143,793,010 S114G probably damaging Het
Gm8989 T C 7: 106,330,273 noncoding transcript Het
Gria2 A T 3: 80,706,937 W599R probably damaging Het
Kifc3 C T 8: 95,109,879 A85T probably damaging Het
Lifr G A 15: 7,164,693 probably null Het
Lonp2 T G 8: 86,624,246 S21R probably benign Het
Nxpe3 A G 16: 55,890,586 V30A probably benign Het
Olfml1 T C 7: 107,567,803 V13A probably benign Het
Olfr1490 T C 19: 13,655,233 V268A probably benign Het
Olfr366 A G 2: 37,219,669 Y60C probably damaging Het
Pcnt G A 10: 76,375,162 Q2376* probably null Het
Pglyrp2 A G 17: 32,417,022 L380P probably damaging Het
Plin3 A G 17: 56,286,636 V26A probably benign Het
Rims1 A G 1: 22,483,207 I470T probably damaging Het
Rora T C 9: 69,374,092 Y329H probably damaging Het
Scnn1b G A 7: 121,917,547 R503H probably damaging Het
Sec14l1 A G 11: 117,144,849 D237G possibly damaging Het
Selplg A G 5: 113,819,406 S280P probably benign Het
Serpina12 A G 12: 104,037,881 L164P probably benign Het
Sik2 C T 9: 50,917,603 W176* probably null Het
Slc2a1 T C 4: 119,136,415 F483S possibly damaging Het
Speg A G 1: 75,423,915 D2573G possibly damaging Het
Stil C T 4: 115,010,111 S239L probably damaging Het
Tmem94 C A 11: 115,794,745 S941R probably damaging Het
Tnfrsf11b T A 15: 54,252,382 D273V probably damaging Het
Tns2 A G 15: 102,112,290 T864A probably benign Het
Zfpm2 A G 15: 41,099,494 H184R probably damaging Het
Other mutations in Ighv1-64
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00841:Ighv1-64 APN 12 115507976 start codon destroyed probably null 1.00
IGL02355:Ighv1-64 APN 12 115507616 missense probably benign 0.01
IGL02615:Ighv1-64 APN 12 115507687 missense possibly damaging 0.90
IGL03085:Ighv1-64 APN 12 115507841 missense possibly damaging 0.79
R4724:Ighv1-64 UTSW 12 115507846 missense probably benign 0.02
R4829:Ighv1-64 UTSW 12 115507726 missense probably benign
R8080:Ighv1-64 UTSW 12 115507843 missense probably benign 0.00
Z1177:Ighv1-64 UTSW 12 115507666 missense probably benign 0.07
Posted On2015-04-16