Incidental Mutation 'R6288:Ighv1-20'
ID 509243
Institutional Source Beutler Lab
Gene Symbol Ighv1-20
Ensembl Gene ENSMUSG00000095761
Gene Name immunoglobulin heavy variable V1-20
Synonyms
MMRRC Submission 044458-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R6288 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 114687392-114687685 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 114687519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 75 (G75D)
Ref Sequence ENSEMBL: ENSMUSP00000141859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103506] [ENSMUST00000194968]
AlphaFold A0A075B5U6
Predicted Effect probably benign
Transcript: ENSMUST00000103506
AA Change: G74D

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000100287
Gene: ENSMUSG00000095761
AA Change: G74D

DomainStartEndE-ValueType
IGv 35 116 1.42e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000194968
AA Change: G75D

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000141859
Gene: ENSMUSG00000095761
AA Change: G75D

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 5.7e-29 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 97% (32/33)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik G T 11: 58,184,421 (GRCm39) D380Y probably damaging Het
4931406B18Rik T A 7: 43,147,549 (GRCm39) E274V probably damaging Het
Ankrd44 A G 1: 54,802,922 (GRCm39) L192P probably damaging Het
Apbb1 T A 7: 105,208,434 (GRCm39) I624F probably damaging Het
Asxl2 A G 12: 3,526,040 (GRCm39) K219E possibly damaging Het
Bean1 T A 8: 104,937,622 (GRCm39) L33Q probably damaging Het
Cdhr17 T A 5: 17,061,283 (GRCm39) C738S possibly damaging Het
Col22a1 T C 15: 71,766,718 (GRCm39) probably null Het
Col6a4 T C 9: 105,945,462 (GRCm39) D884G probably damaging Het
Crocc2 A G 1: 93,122,227 (GRCm39) R707G probably benign Het
Cts7 C T 13: 61,500,584 (GRCm39) G321E probably damaging Het
Cyp2d9 C T 15: 82,340,616 (GRCm39) H422Y probably damaging Het
Epha2 C T 4: 141,044,344 (GRCm39) A382V probably benign Het
Fam151a A C 4: 106,605,341 (GRCm39) T568P probably damaging Het
Fbln2 A T 6: 91,210,263 (GRCm39) Y69F probably damaging Het
Flg2 A T 3: 93,111,092 (GRCm39) H1040L unknown Het
Gucy2g T C 19: 55,215,945 (GRCm39) T476A probably benign Het
H3c7 A G 13: 23,728,664 (GRCm39) T4A probably benign Het
Inpp5b G A 4: 124,679,020 (GRCm39) V476I probably benign Het
Nrxn2 T A 19: 6,540,591 (GRCm39) L855Q probably damaging Het
Or52ab2 A G 7: 102,970,286 (GRCm39) I223V probably damaging Het
Or8h7 A G 2: 86,721,226 (GRCm39) F98L probably benign Het
Pcolce2 T A 9: 95,563,646 (GRCm39) Y211N probably damaging Het
Phf21b A C 15: 84,739,272 (GRCm39) probably benign Het
Rbm8a2 T C 1: 175,806,111 (GRCm39) E122G probably benign Het
Rimbp3 C T 16: 17,030,772 (GRCm39) P1399S probably benign Het
Slc38a1 A G 15: 96,484,759 (GRCm39) V267A probably benign Het
Sox11 A G 12: 27,392,332 (GRCm39) F26L possibly damaging Het
Ssbp3 T A 4: 106,903,277 (GRCm39) probably null Het
Trim12c C T 7: 103,995,936 (GRCm39) V146I probably benign Het
Trrap C A 5: 144,748,802 (GRCm39) T1543K probably damaging Het
Zfp473 C A 7: 44,382,958 (GRCm39) K457N probably damaging Het
Other mutations in Ighv1-20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02320:Ighv1-20 APN 12 114,687,463 (GRCm39) missense probably damaging 1.00
R2427:Ighv1-20 UTSW 12 114,687,692 (GRCm39) synonymous silent
R4274:Ighv1-20 UTSW 12 114,687,819 (GRCm39) missense probably damaging 1.00
R5472:Ighv1-20 UTSW 12 114,687,471 (GRCm39) missense probably damaging 0.97
R5778:Ighv1-20 UTSW 12 114,687,497 (GRCm39) missense probably benign 0.11
R7318:Ighv1-20 UTSW 12 114,687,810 (GRCm39) missense possibly damaging 0.93
R8063:Ighv1-20 UTSW 12 114,687,405 (GRCm39) missense probably damaging 1.00
R8343:Ighv1-20 UTSW 12 114,687,810 (GRCm39) missense probably benign 0.00
R8381:Ighv1-20 UTSW 12 114,687,501 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- AGCAAATCTACAAGTGACACTTCTC -3'
(R):5'- TTCTCTGAGGTTCAGCTGCAG -3'

Sequencing Primer
(F):5'- AAGTCTTGTCAGTCCCAAGG -3'
(R):5'- TTCAGCTGCAGCAGTCTG -3'
Posted On 2018-04-02