Incidental Mutation 'R9675:Ighv1-15'
ID 728311
Institutional Source Beutler Lab
Gene Symbol Ighv1-15
Ensembl Gene ENSMUSG00000103254
Gene Name immunoglobulin heavy variable 1-15
Synonyms Gm16858
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R9675 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 114620973-114621266 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 114620981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 115 (C115S)
Ref Sequence ENSEMBL: ENSMUSP00000141908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000192077]
AlphaFold A0A0A6YXA5
Predicted Effect probably damaging
Transcript: ENSMUST00000192077
AA Change: C115S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141908
Gene: ENSMUSG00000103254
AA Change: C115S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 1.7e-29 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik G T 5: 113,339,827 (GRCm39) P62T probably damaging Het
Aadacl2fm3 C T 3: 59,784,538 (GRCm39) T337I probably damaging Het
Abtb2 T C 2: 103,538,532 (GRCm39) F654L probably benign Het
Acta2 A T 19: 34,223,612 (GRCm39) V161E Het
Adamtsl1 A C 4: 86,161,989 (GRCm39) Y374S probably damaging Het
Apc A G 18: 34,449,247 (GRCm39) K2048E probably damaging Het
Arhgef4 C A 1: 34,845,108 (GRCm39) D66E probably benign Het
Arsj T A 3: 126,231,765 (GRCm39) H170Q probably damaging Het
Bmpr1b T C 3: 141,563,321 (GRCm39) K208E probably benign Het
Brd4 A T 17: 32,433,786 (GRCm39) M459K unknown Het
Btnl10 T A 11: 58,814,442 (GRCm39) L374Q probably damaging Het
Cadm1 C T 9: 47,441,752 (GRCm39) R28W probably damaging Het
Cts7 A T 13: 61,504,371 (GRCm39) M64K probably benign Het
Dmbt1 T C 7: 130,712,652 (GRCm39) L1552P probably damaging Het
Dnaaf6rt G A 1: 31,262,644 (GRCm39) V209I probably benign Het
Dock4 TGTGCCGGTGCCGGTGCCGGTGCCGGTGCC TGTGCCGGTGCCGGTGCCGGTGCCGGTGCCGGTGCC 12: 40,894,379 (GRCm39) probably benign Het
Dock4 TGCCGG TGCCGGAGCCGG 12: 40,894,393 (GRCm39) probably benign Het
Dusp4 G A 8: 35,274,964 (GRCm39) G28S probably benign Het
Fez2 A G 17: 78,686,169 (GRCm39) C373R possibly damaging Het
Fibin T C 2: 110,192,495 (GRCm39) T216A probably benign Het
Gad1 G A 2: 70,416,200 (GRCm39) V220M probably damaging Het
Hsd17b13 A G 5: 104,111,709 (GRCm39) L278S probably benign Het
Hyal5 G T 6: 24,876,635 (GRCm39) E169D probably benign Het
Msl2 T C 9: 100,978,555 (GRCm39) S310P probably benign Het
Mss51 A G 14: 20,537,189 (GRCm39) M93T probably damaging Het
Npas2 T C 1: 39,364,446 (GRCm39) F263L probably damaging Het
Ogfod2 T C 5: 124,252,452 (GRCm39) V177A probably damaging Het
Or1s2 T G 19: 13,758,639 (GRCm39) V219G possibly damaging Het
Or9a4 A G 6: 40,548,559 (GRCm39) M80V possibly damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pkd2l1 G T 19: 44,137,696 (GRCm39) Q713K probably benign Het
Rasgrp1 T A 2: 117,173,190 (GRCm39) M1L probably benign Het
Rnf167 T A 11: 70,541,032 (GRCm39) H219Q possibly damaging Het
Spatc1 T A 15: 76,152,520 (GRCm39) I50N probably damaging Het
Tcf20 T C 15: 82,740,986 (GRCm39) Y155C probably damaging Het
Tfpt T A 7: 3,623,981 (GRCm39) D142V probably damaging Het
Trp53bp1 A G 2: 121,087,089 (GRCm39) V189A probably benign Het
Ttbk2 T G 2: 120,637,241 (GRCm39) Q141H probably benign Het
Zbtb21 A G 16: 97,752,945 (GRCm39) V474A probably damaging Het
Other mutations in Ighv1-15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01823:Ighv1-15 APN 12 114,621,212 (GRCm39) missense probably benign 0.18
R5299:Ighv1-15 UTSW 12 114,620,998 (GRCm39) missense probably damaging 1.00
R7988:Ighv1-15 UTSW 12 114,621,116 (GRCm39) missense probably benign 0.12
R9195:Ighv1-15 UTSW 12 114,621,139 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTTTTACAAAGGTGACAAAGGCAC -3'
(R):5'- GGCTTCGGGCTACACATTTAC -3'

Sequencing Primer
(F):5'- TGACAAAGGCACTATAGGACTGTG -3'
(R):5'- CGGGCTACACATTTACTGACTATG -3'
Posted On 2022-10-06