Incidental Mutation 'R6435:Ighv1-9'
ID 518755
Institutional Source Beutler Lab
Gene Symbol Ighv1-9
Ensembl Gene ENSMUSG00000094694
Gene Name immunoglobulin heavy variable V1-9
Synonyms Gm16697
MMRRC Submission 044573-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R6435 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 114547189-114547482 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 114547206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 111 (I111F)
Ref Sequence ENSEMBL: ENSMUSP00000100279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103498] [ENSMUST00000193893]
AlphaFold A0A075B5T9
Predicted Effect probably benign
Transcript: ENSMUST00000103498
AA Change: I111F

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000100279
Gene: ENSMUSG00000094694
AA Change: I111F

DomainStartEndE-ValueType
IGv 35 116 1.21e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000193893
AA Change: I112F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141381
Gene: ENSMUSG00000094694
AA Change: I112F

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 4.9e-32 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.2%
Validation Efficiency 100% (32/32)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 A T 2: 31,691,561 (GRCm39) T1027S possibly damaging Het
Ablim1 T C 19: 57,049,787 (GRCm39) I159V possibly damaging Het
Adcy1 A G 11: 7,111,367 (GRCm39) N886S possibly damaging Het
Baz1b G A 5: 135,266,799 (GRCm39) D1203N probably damaging Het
Chmp2a A T 7: 12,766,701 (GRCm39) Y72* probably null Het
Col6a1 A T 10: 76,546,957 (GRCm39) I755N unknown Het
Defa24 T A 8: 22,224,690 (GRCm39) F46L possibly damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Gcn1 A T 5: 115,749,081 (GRCm39) probably null Het
Gfpt2 A G 11: 49,726,478 (GRCm39) S628G probably benign Het
Hsdl2 C A 4: 59,610,668 (GRCm39) Q222K unknown Het
Itch G A 2: 155,051,049 (GRCm39) D579N probably benign Het
Jdp2 A T 12: 85,655,132 (GRCm39) K65M probably damaging Het
Kif15 A T 9: 122,815,556 (GRCm39) E222V probably damaging Het
Map1b A G 13: 99,652,871 (GRCm39) V42A probably damaging Het
Mecom T A 3: 30,034,398 (GRCm39) E426V probably damaging Het
Meiosin T C 7: 18,834,844 (GRCm39) probably benign Het
Mfsd6 G T 1: 52,748,603 (GRCm39) Y87* probably null Het
Mybpc2 A G 7: 44,155,481 (GRCm39) V924A possibly damaging Het
Naip6 A T 13: 100,431,249 (GRCm39) M1196K probably benign Het
Nscme3l T C 19: 5,553,446 (GRCm39) I112V probably benign Het
Or52n5 A G 7: 104,588,041 (GRCm39) M103V probably damaging Het
Pcdh9 G A 14: 94,125,280 (GRCm39) P297S probably benign Het
Pold1 G A 7: 44,188,202 (GRCm39) R559C probably damaging Het
Rgs21 A G 1: 144,395,565 (GRCm39) F108L probably damaging Het
Runx1 A T 16: 92,441,183 (GRCm39) S209T possibly damaging Het
Sdccag8 G T 1: 176,642,428 (GRCm39) probably benign Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Srgap1 T C 10: 121,636,732 (GRCm39) D741G possibly damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Homo
Tsc1 G A 2: 28,566,464 (GRCm39) V627M probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfp612 A G 8: 110,815,952 (GRCm39) I347M probably damaging Het
Other mutations in Ighv1-9
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0054:Ighv1-9 UTSW 12 114,547,602 (GRCm39) missense probably benign 0.00
R4426:Ighv1-9 UTSW 12 114,547,416 (GRCm39) nonsense probably null
R4593:Ighv1-9 UTSW 12 114,547,224 (GRCm39) missense probably benign 0.12
R5045:Ighv1-9 UTSW 12 114,547,440 (GRCm39) missense probably damaging 1.00
R5070:Ighv1-9 UTSW 12 114,547,377 (GRCm39) missense probably damaging 1.00
R6941:Ighv1-9 UTSW 12 114,547,448 (GRCm39) missense probably benign
R8140:Ighv1-9 UTSW 12 114,547,361 (GRCm39) missense probably damaging 1.00
R8346:Ighv1-9 UTSW 12 114,547,448 (GRCm39) missense probably benign
R9209:Ighv1-9 UTSW 12 114,547,620 (GRCm39) start codon destroyed probably null 1.00
R9446:Ighv1-9 UTSW 12 114,547,388 (GRCm39) missense probably benign 0.06
Z1176:Ighv1-9 UTSW 12 114,547,454 (GRCm39) missense probably benign 0.44
Z1177:Ighv1-9 UTSW 12 114,547,319 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- AGTTGACAAAGGCACTATAAGTCTG -3'
(R):5'- TACTGGCTACACATTCACTGGC -3'

Sequencing Primer
(F):5'- GCACTATAAGTCTGTGTGTAGGAAAC -3'
(R):5'- CACATTCACTGGCTACTGGATAGAG -3'
Posted On 2018-05-24