Incidental Mutation 'R6172:Ighv7-1'
ID 488265
Institutional Source Beutler Lab
Gene Symbol Ighv7-1
Ensembl Gene ENSMUSG00000076665
Gene Name immunoglobulin heavy variable 7-1
Synonyms Gm16698
MMRRC Submission 044315-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R6172 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 113860028-113860566 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113860183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 70 (S70G)
Ref Sequence ENSEMBL: ENSMUSP00000100255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103474]
AlphaFold A0A075B5S2
Predicted Effect probably damaging
Transcript: ENSMUST00000103474
AA Change: S70G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000100255
Gene: ENSMUSG00000076665
AA Change: S70G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 119 6.1e-35 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.5%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap42 A T 9: 9,148,246 (GRCm39) C108S possibly damaging Het
Bbs2 T C 8: 94,814,039 (GRCm39) E193G probably benign Het
Bpifb2 C A 2: 153,732,332 (GRCm39) H310Q probably benign Het
Cand2 A G 6: 115,768,271 (GRCm39) E472G probably benign Het
Cd81 A G 7: 142,606,691 (GRCm39) probably benign Het
Chd5 A T 4: 152,463,848 (GRCm39) H1476L probably damaging Het
Clpx C A 9: 65,209,161 (GRCm39) S92* probably null Het
Cstf3 T C 2: 104,481,987 (GRCm39) V276A probably damaging Het
Ehd4 G A 2: 119,932,737 (GRCm39) Q230* probably null Het
Erich3 A G 3: 154,469,978 (GRCm39) T4A possibly damaging Het
Erlin2 T G 8: 27,526,123 (GRCm39) probably null Het
Exosc1 C A 19: 41,912,442 (GRCm39) Q148H probably damaging Het
Fbxw27 A T 9: 109,601,337 (GRCm39) V261E probably damaging Het
Flrt2 T A 12: 95,746,305 (GRCm39) N214K probably damaging Het
Foxp1 G A 6: 98,992,471 (GRCm39) Q41* probably null Het
Foxp1 C A 6: 98,992,475 (GRCm39) probably null Het
Frk T C 10: 34,467,961 (GRCm39) L325P probably damaging Het
Gm21698 T C 5: 26,192,371 (GRCm39) I72V probably benign Het
Gm39115 A T 7: 141,689,651 (GRCm39) C41S unknown Het
Hectd1 G A 12: 51,816,065 (GRCm39) P1336S probably damaging Het
Itga10 T C 3: 96,554,753 (GRCm39) I78T probably benign Het
Itgb4 A G 11: 115,891,237 (GRCm39) H1218R probably benign Het
Marchf6 A T 15: 31,483,013 (GRCm39) N463K possibly damaging Het
Muc5b A C 7: 141,412,513 (GRCm39) T1820P unknown Het
Nfatc4 A G 14: 56,066,990 (GRCm39) T510A possibly damaging Het
Nwd2 G T 5: 63,964,249 (GRCm39) V1278F probably damaging Het
Or52n2c A C 7: 104,574,503 (GRCm39) M156R probably benign Het
Or7g19 A G 9: 18,856,042 (GRCm39) T33A probably benign Het
P2rx1 G A 11: 72,900,856 (GRCm39) V209M probably damaging Het
Pkn1 T C 8: 84,397,384 (GRCm39) K874R possibly damaging Het
Plec C T 15: 76,056,576 (GRCm39) V4444I probably damaging Het
Ppp1r37 A T 7: 19,266,329 (GRCm39) M479K possibly damaging Het
Prr11 A C 11: 86,994,449 (GRCm39) F66V probably benign Het
Rbbp5 A G 1: 132,424,554 (GRCm39) D268G possibly damaging Het
Rbbp6 T A 7: 122,597,778 (GRCm39) Y734* probably null Het
Rc3h2 GCC GCCC 2: 37,304,745 (GRCm39) probably null Het
Rhou A G 8: 124,387,903 (GRCm39) K212E probably benign Het
Rsph1 G A 17: 31,492,392 (GRCm39) T58I probably benign Het
Serpina3m A G 12: 104,355,486 (GRCm39) N51S probably damaging Het
Shisa6 A T 11: 66,108,832 (GRCm39) D348E probably benign Het
Slc6a5 T A 7: 49,598,081 (GRCm39) Y648* probably null Het
Stag3 A G 5: 138,298,105 (GRCm39) D699G probably benign Het
Terf2ip A T 8: 112,744,649 (GRCm39) D322V probably damaging Het
Vmn1r125 A T 7: 21,006,275 (GRCm39) M58L probably benign Het
Wdr49 T A 3: 75,205,487 (GRCm39) D643V probably damaging Het
Other mutations in Ighv7-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01637:Ighv7-1 APN 12 113,860,123 (GRCm39) missense possibly damaging 0.78
IGL03006:Ighv7-1 APN 12 113,860,145 (GRCm39) missense probably damaging 1.00
IGL03051:Ighv7-1 APN 12 113,860,576 (GRCm39) unclassified probably benign
IGL03281:Ighv7-1 APN 12 113,860,571 (GRCm39) unclassified probably benign
R3008:Ighv7-1 UTSW 12 113,860,071 (GRCm39) missense probably damaging 1.00
R5754:Ighv7-1 UTSW 12 113,860,239 (GRCm39) missense probably damaging 0.99
R6213:Ighv7-1 UTSW 12 113,860,141 (GRCm39) missense probably damaging 0.99
R7324:Ighv7-1 UTSW 12 113,860,149 (GRCm39) missense probably damaging 1.00
R8399:Ighv7-1 UTSW 12 113,860,532 (GRCm39) missense unknown
R9193:Ighv7-1 UTSW 12 113,860,110 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTCTGTTGGTCCAGAACAC -3'
(R):5'- TCTACTATTGCAGGTATCCAGTG -3'

Sequencing Primer
(F):5'- GAACACCCCTGCAATGAGGTTTG -3'
(R):5'- ACTATTGCAGGTATCCAGTGTGAGG -3'
Posted On 2017-10-10