Incidental Mutation 'R8864:Ighv1-16'
ID 675821
Institutional Source Beutler Lab
Gene Symbol Ighv1-16
Ensembl Gene ENSMUSG00000095554
Gene Name immunoglobulin heavy variable 1-16
Synonyms Gm7012
MMRRC Submission 068680-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # R8864 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 114629492-114629785 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 114629619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 56 (G56D)
Ref Sequence ENSEMBL: ENSMUSP00000100282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103501]
AlphaFold A0A075B5U1
Predicted Effect probably benign
Transcript: ENSMUST00000103501
AA Change: G56D

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000100282
Gene: ENSMUSG00000095554
AA Change: G56D

DomainStartEndE-ValueType
IGv 17 98 5.7e-18 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (41/41)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 59,023,497 (GRCm39) C297* probably null Het
Adamts3 T C 5: 89,854,981 (GRCm39) probably benign Het
Best2 T A 8: 85,735,942 (GRCm39) M331L probably benign Het
Cachd1 T A 4: 100,852,026 (GRCm39) S1207R probably damaging Het
Cacna2d3 G T 14: 29,055,735 (GRCm39) N298K probably damaging Het
Cyp2j12 T C 4: 96,009,750 (GRCm39) Y203C probably damaging Het
Dnah8 T C 17: 30,981,616 (GRCm39) I3046T possibly damaging Het
Eif3b T C 5: 140,412,287 (GRCm39) V252A probably benign Het
Ergic2 A G 6: 148,083,393 (GRCm39) V355A probably benign Het
F13a1 C T 13: 37,061,753 (GRCm39) G670D probably damaging Het
Gfpt1 T A 6: 87,031,605 (GRCm39) D82E probably benign Het
Ggnbp2 G A 11: 84,730,902 (GRCm39) R376C probably damaging Het
Grn T C 11: 102,327,211 (GRCm39) F191L unknown Het
Jrkl T C 9: 13,244,326 (GRCm39) D445G probably benign Het
Loxl3 A G 6: 83,012,739 (GRCm39) T93A probably damaging Het
Lrp1b C T 2: 41,002,718 (GRCm39) A2094T Het
Lrriq3 T A 3: 154,893,575 (GRCm39) D425E probably damaging Het
Majin T C 19: 6,261,650 (GRCm39) V55A possibly damaging Het
Mapk8ip3 A T 17: 25,118,492 (GRCm39) V1192E probably damaging Het
Mdga1 T C 17: 30,150,295 (GRCm39) S106G unknown Het
Mtch2 C T 2: 90,685,274 (GRCm39) R135* probably null Het
Naip1 T C 13: 100,562,828 (GRCm39) N779S possibly damaging Het
Nfia T C 4: 97,951,382 (GRCm39) V403A possibly damaging Het
Npas4 C A 19: 5,038,556 (GRCm39) D121Y probably damaging Het
Rab3gap1 C T 1: 127,837,630 (GRCm39) R231W probably damaging Het
Rangap1 C G 15: 81,610,270 (GRCm39) probably benign Het
Rgs5 T A 1: 169,517,990 (GRCm39) F75I probably benign Het
Rnf19a T C 15: 36,265,452 (GRCm39) D215G possibly damaging Het
Rwdd4a A T 8: 48,000,876 (GRCm39) probably benign Het
Setd5 G A 6: 113,088,469 (GRCm39) R199H probably damaging Het
Spata31e1 T C 13: 49,940,988 (GRCm39) N241D probably benign Het
Spef2 T C 15: 9,599,833 (GRCm39) Q2004R unknown Het
Syne1 T C 10: 5,370,473 (GRCm39) K236E probably benign Het
Tas2r104 A G 6: 131,662,632 (GRCm39) F26L possibly damaging Het
Tbc1d32 T A 10: 55,963,655 (GRCm39) E954D probably benign Het
Tenm2 A C 11: 35,918,022 (GRCm39) S1914A possibly damaging Het
Tln2 G T 9: 67,237,834 (GRCm39) Y32* probably null Het
Tnc C T 4: 63,911,296 (GRCm39) R1425H probably damaging Het
Unc13b T C 4: 43,174,724 (GRCm39) C1851R unknown Het
Wapl T A 14: 34,414,159 (GRCm39) D340E probably benign Het
Zfp74 T C 7: 29,634,235 (GRCm39) E491G probably damaging Het
Other mutations in Ighv1-16
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4445001:Ighv1-16 UTSW 12 114,629,680 (GRCm39) missense probably benign 0.01
R5800:Ighv1-16 UTSW 12 114,629,531 (GRCm39) missense probably benign 0.00
R9381:Ighv1-16 UTSW 12 114,629,598 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCGTCCAGGGTTTCTGACAC -3'
(R):5'- GAAATGGCCTGGGATGTCAC -3'

Sequencing Primer
(F):5'- AGGGTTTCTGACACACTCAGG -3'
(R):5'- TTCACAGGTGTCCACTCTGAGG -3'
Posted On 2021-07-15