Incidental Mutation 'R2892:Ighv1-24'
ID 477036
Institutional Source Beutler Lab
Gene Symbol Ighv1-24
Ensembl Gene ENSMUSG00000094241
Gene Name immunoglobulin heavy variable V1-24
Synonyms Ighv1-24, immunoglobulin heavy variable V1-24
MMRRC Submission 040480-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.796) question?
Stock # R2892 (G1)
Quality Score 178
Status Not validated
Chromosome 12
Chromosomal Location 114772928-114773361 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 114773059 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamine at position 74 (K74Q)
Ref Sequence ENSEMBL: ENSMUSP00000142245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103509] [ENSMUST00000191861]
AlphaFold A0A075B5U9
Predicted Effect probably benign
Transcript: ENSMUST00000103509
AA Change: K55Q

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000100290
Gene: ENSMUSG00000094241
AA Change: K55Q

DomainStartEndE-ValueType
IGv 17 98 2.16e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191861
AA Change: K74Q

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000142245
Gene: ENSMUSG00000094241
AA Change: K74Q

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 8.9e-20 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 A G 5: 35,594,317 D232G probably damaging Het
Ank2 T C 3: 127,248,243 probably null Het
Atp6v0a4 T C 6: 38,053,017 E704G probably benign Het
Bbx A G 16: 50,224,741 Y378H probably damaging Het
Carmil3 T C 14: 55,498,313 V574A probably damaging Het
Cpz A G 5: 35,511,129 V379A probably damaging Het
Cyp4f15 A G 17: 32,686,208 D55G probably benign Het
Dcun1d2 A T 8: 13,278,649 I86N probably damaging Het
Defa30 A T 8: 21,134,663 M1L probably damaging Het
Fzd8 G T 18: 9,214,514 G532V probably damaging Het
Gcfc2 T C 6: 81,956,913 F717S possibly damaging Het
Gckr T C 5: 31,326,472 V563A probably benign Het
Kcnj3 A T 2: 55,447,015 I298F probably damaging Het
Miga2 A T 2: 30,378,294 probably null Het
Mmrn2 T G 14: 34,396,630 F158V probably benign Het
Mug1 G A 6: 121,840,070 V33M possibly damaging Het
Myom1 T C 17: 71,034,653 S136P probably damaging Het
Nadk A G 4: 155,587,360 N232S possibly damaging Het
Olfr815 A G 10: 129,901,940 Y257H possibly damaging Het
Olfr845 A G 9: 19,338,738 T93A probably benign Het
Pcnx2 A G 8: 125,891,058 S153P probably damaging Het
Pde8b T C 13: 95,034,259 D633G probably damaging Het
Pik3ap1 G A 19: 41,376,061 A73V probably benign Het
Plrg1 C A 3: 83,071,240 Q438K probably damaging Het
Plxna4 A G 6: 32,517,037 Y215H probably damaging Het
Rapsn A T 2: 91,036,824 D157V probably damaging Het
Rock1 G A 18: 10,072,863 Q1161* probably null Het
Snrnp200 T C 2: 127,231,777 L1365P probably damaging Het
Srcap T C 7: 127,539,065 S1136P probably damaging Het
Trim80 A G 11: 115,448,023 T560A possibly damaging Het
Ttll2 T C 17: 7,352,699 probably null Het
Usp8 A T 2: 126,758,155 Q998L probably damaging Het
Vpreb3 C T 10: 75,943,222 probably benign Het
Zfp82 G A 7: 30,056,439 T406I probably damaging Het
Other mutations in Ighv1-24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01630:Ighv1-24 APN 12 114773053 missense probably benign 0.22
PIT4581001:Ighv1-24 UTSW 12 114773183 missense probably benign
R3687:Ighv1-24 UTSW 12 114773080 missense probably damaging 1.00
R3811:Ighv1-24 UTSW 12 114773065 missense probably benign 0.33
R5071:Ighv1-24 UTSW 12 114773128 missense probably benign 0.17
R6880:Ighv1-24 UTSW 12 114773043 missense possibly damaging 0.85
R9052:Ighv1-24 UTSW 12 114772935 missense probably damaging 1.00
R9254:Ighv1-24 UTSW 12 114773043 missense possibly damaging 0.85
R9379:Ighv1-24 UTSW 12 114773043 missense possibly damaging 0.85
Predicted Primers
Posted On 2017-05-15