Incidental Mutation 'R4241:Ighv1-53'
ID 320226
Institutional Source Beutler Lab
Gene Symbol Ighv1-53
Ensembl Gene ENSMUSG00000093894
Gene Name immunoglobulin heavy variable 1-53
Synonyms V23-D-J-C mu, AB069917
MMRRC Submission 041058-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R4241 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 115122065-115122455 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 115122442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 5 (C5Y)
Ref Sequence ENSEMBL: ENSMUSP00000100304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103523]
AlphaFold A0A075B5W3
Predicted Effect probably benign
Transcript: ENSMUST00000103523
AA Change: C5Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000100304
Gene: ENSMUSG00000093894
AA Change: C5Y

DomainStartEndE-ValueType
IGv 36 117 3.52e-31 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 98% (49/50)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A T 3: 116,548,497 (GRCm39) probably benign Het
Ap5b1 C T 19: 5,618,825 (GRCm39) L82F possibly damaging Het
Arfgef3 A G 10: 18,500,912 (GRCm39) S1113P probably damaging Het
Atoh1 A C 6: 64,706,758 (GRCm39) N151T probably damaging Het
Bcas3 T A 11: 85,361,652 (GRCm39) S25R probably damaging Het
Blcap T A 2: 157,402,343 (GRCm39) probably benign Het
Btbd6 C T 12: 112,940,416 (GRCm39) A13V probably benign Het
Ccdc83 A C 7: 89,896,346 (GRCm39) N74K probably damaging Het
Cdh9 A G 15: 16,849,165 (GRCm39) probably null Het
Chd1 C T 17: 15,990,289 (GRCm39) R1614* probably null Het
Col16a1 G T 4: 129,992,843 (GRCm39) Q1567H probably damaging Het
Coq6 A T 12: 84,420,563 (GRCm39) probably benign Het
Cpd T C 11: 76,737,611 (GRCm39) D61G probably benign Het
Csnk1e A G 15: 79,309,095 (GRCm39) F277S probably damaging Het
Cyp2d41-ps T A 15: 82,663,787 (GRCm39) noncoding transcript Het
Dbt T C 3: 116,326,945 (GRCm39) I98T probably damaging Het
Eif3e G A 15: 43,126,086 (GRCm39) T287I probably damaging Het
Fcgbpl1 A G 7: 27,853,760 (GRCm39) S1575G probably damaging Het
Gm7135 A G 1: 97,281,678 (GRCm39) noncoding transcript Het
Gpr176 A T 2: 118,110,091 (GRCm39) S389R probably benign Het
Hax1 A G 3: 89,902,997 (GRCm39) S257P probably damaging Het
Herc1 CTGAGGACTCTTTG CTG 9: 66,355,630 (GRCm39) probably null Het
Klhl13 T A X: 23,181,414 (GRCm39) D2V probably damaging Het
Kynu A T 2: 43,571,422 (GRCm39) H446L probably benign Het
Lingo1 A G 9: 56,527,386 (GRCm39) F401S probably damaging Het
Lmbrd1 C T 1: 24,732,049 (GRCm39) Q89* probably null Het
Mov10 T A 3: 104,704,592 (GRCm39) Q773L probably benign Het
Or52e19 G T 7: 102,959,868 (GRCm39) *313Y probably null Het
Or7c70 T A 10: 78,683,739 (GRCm39) R3S probably benign Het
Pde6c G A 19: 38,151,293 (GRCm39) G608S probably damaging Het
Peli3 T C 19: 4,982,426 (GRCm39) H413R probably damaging Het
Pkdrej C T 15: 85,702,345 (GRCm39) R1197Q probably damaging Het
Rcan2 T A 17: 44,264,370 (GRCm39) V10D probably benign Het
Slc10a5 A G 3: 10,400,520 (GRCm39) S47P probably damaging Het
Sprr3 A G 3: 92,364,214 (GRCm39) V210A possibly damaging Het
Tcerg1l G T 7: 137,999,361 (GRCm39) Q8K unknown Het
Ubfd1 T C 7: 121,670,977 (GRCm39) V265A possibly damaging Het
Ubr1 T C 2: 120,764,867 (GRCm39) D529G possibly damaging Het
Vmn1r180 A T 7: 23,652,298 (GRCm39) I154F probably damaging Het
Vmn1r237 A G 17: 21,534,925 (GRCm39) H216R possibly damaging Het
Whrn C T 4: 63,351,210 (GRCm39) probably benign Het
Zfr T G 15: 12,149,745 (GRCm39) D388E probably damaging Het
Zic5 T C 14: 122,702,075 (GRCm39) I219V probably benign Het
Zmat5 A G 11: 4,678,614 (GRCm39) N53D probably benign Het
Other mutations in Ighv1-53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01815:Ighv1-53 APN 12 115,122,217 (GRCm39) missense probably benign 0.01
IGL02326:Ighv1-53 APN 12 115,122,235 (GRCm39) missense probably benign 0.21
BB010:Ighv1-53 UTSW 12 115,122,029 (GRCm39) nonsense probably null
BB020:Ighv1-53 UTSW 12 115,122,029 (GRCm39) nonsense probably null
R3404:Ighv1-53 UTSW 12 115,122,058 (GRCm39) missense possibly damaging 0.81
R4020:Ighv1-53 UTSW 12 115,122,442 (GRCm39) missense probably benign 0.00
R4169:Ighv1-53 UTSW 12 115,122,166 (GRCm39) missense possibly damaging 0.63
R5231:Ighv1-53 UTSW 12 115,122,225 (GRCm39) missense probably benign 0.09
R7139:Ighv1-53 UTSW 12 115,122,441 (GRCm39) nonsense probably null
R7220:Ighv1-53 UTSW 12 115,122,135 (GRCm39) missense probably benign 0.00
R7293:Ighv1-53 UTSW 12 115,122,441 (GRCm39) nonsense probably null
R7933:Ighv1-53 UTSW 12 115,122,029 (GRCm39) nonsense probably null
R7934:Ighv1-53 UTSW 12 115,122,236 (GRCm39) nonsense probably null
R8846:Ighv1-53 UTSW 12 115,122,165 (GRCm39) missense probably damaging 0.99
R9707:Ighv1-53 UTSW 12 115,122,035 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGTAGCCAGAAGCCTTGCAG -3'
(R):5'- TGATTCTTGACCCAGATGTCC -3'

Sequencing Primer
(F):5'- AAGCCTTGCAGGACAGCTTC -3'
(R):5'- AGATGTCCCTTCTTCTCCAGCAG -3'
Posted On 2015-06-12