Incidental Mutation 'R5956:Ighv1-74'
ID 471203
Institutional Source Beutler Lab
Gene Symbol Ighv1-74
Ensembl Gene ENSMUSG00000094124
Gene Name immunoglobulin heavy variable V1-74
Synonyms Gm16710
MMRRC Submission 044144-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R5956 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 115766310-115766700 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 115766455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Leucine at position 55 (W55L)
Ref Sequence ENSEMBL: ENSMUSP00000143597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103543] [ENSMUST00000196587]
AlphaFold A0A075B5Y1
Predicted Effect probably damaging
Transcript: ENSMUST00000103543
AA Change: W54L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100324
Gene: ENSMUSG00000094124
AA Change: W54L

DomainStartEndE-ValueType
IGv 35 116 1.86e-30 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000196587
AA Change: W55L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143597
Gene: ENSMUSG00000094124
AA Change: W55L

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 7.9e-33 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 98% (63/64)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,203,893 (GRCm39) I398K possibly damaging Het
Acad9 A G 3: 36,129,323 (GRCm39) probably benign Het
Acsm2 T C 7: 119,153,704 (GRCm39) S5P unknown Het
Akp3 T C 1: 87,054,667 (GRCm39) I334T probably damaging Het
Amy1 C T 3: 113,357,311 (GRCm39) R176H probably benign Het
Ank2 A T 3: 126,736,337 (GRCm39) probably benign Het
Cav1 C A 6: 17,307,918 (GRCm39) N23K probably damaging Het
Cep126 A G 9: 8,112,120 (GRCm39) V151A probably benign Het
Cnot1 A G 8: 96,481,606 (GRCm39) probably null Het
Crim1 T A 17: 78,623,146 (GRCm39) V448E probably damaging Het
Csmd3 T C 15: 48,655,278 (GRCm39) E8G possibly damaging Het
Ddx31 A T 2: 28,764,185 (GRCm39) I464F probably damaging Het
Ddx54 A G 5: 120,764,432 (GRCm39) probably benign Het
Dhx16 A G 17: 36,193,762 (GRCm39) E319G probably damaging Het
Efl1 A G 7: 82,301,107 (GRCm39) D37G probably damaging Het
Epha5 T C 5: 84,298,228 (GRCm39) R444G probably damaging Het
Exoc2 C A 13: 31,004,606 (GRCm39) C859F probably benign Het
Gbx2 T C 1: 89,860,908 (GRCm39) probably benign Het
Gm12258 G A 11: 58,750,285 (GRCm39) A9T probably benign Het
Gpr141b T G 13: 19,913,300 (GRCm39) noncoding transcript Het
Grm4 A G 17: 27,654,129 (GRCm39) V607A probably benign Het
Gvin3 T C 7: 106,200,677 (GRCm39) noncoding transcript Het
Irx4 C A 13: 73,415,626 (GRCm39) Y138* probably null Het
Itpr1 C A 6: 108,482,988 (GRCm39) T2352K probably benign Het
Kcnk3 T G 5: 30,745,854 (GRCm39) V65G probably damaging Het
Mctp2 T C 7: 71,908,923 (GRCm39) E130G probably benign Het
Mgat5 C A 1: 127,310,676 (GRCm39) R197S probably benign Het
Mpg T C 11: 32,177,951 (GRCm39) probably null Het
Muc5b T C 7: 141,417,910 (GRCm39) C3619R probably damaging Het
Myo15b G A 11: 115,764,583 (GRCm39) V1321I probably benign Het
Myo1b T C 1: 51,815,391 (GRCm39) T658A probably damaging Het
Nomo1 T C 7: 45,692,037 (GRCm39) S154P possibly damaging Het
Nsd1 T A 13: 55,411,217 (GRCm39) F1423I probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or9g3 A G 2: 85,584,183 (GRCm39) probably benign Het
Osbpl6 A G 2: 76,379,856 (GRCm39) R149G probably damaging Het
Pacc1 A G 1: 191,080,568 (GRCm39) S263G probably damaging Het
Papola T A 12: 105,777,300 (GRCm39) W281R probably damaging Het
Pole C T 5: 110,485,153 (GRCm39) probably benign Het
Rptn A G 3: 93,305,334 (GRCm39) N889S possibly damaging Het
Scn10a A G 9: 119,460,626 (GRCm39) S1084P probably damaging Het
Scnm1 T C 3: 95,037,596 (GRCm39) I157V probably benign Het
Sertad2 G A 11: 20,597,884 (GRCm39) G27S probably benign Het
Siglece T C 7: 43,308,760 (GRCm39) T198A probably damaging Het
Sptb T A 12: 76,650,942 (GRCm39) M1678L probably benign Het
Taf8 A T 17: 47,809,467 (GRCm39) M98K probably damaging Het
Tead2 T A 7: 44,870,138 (GRCm39) probably benign Het
Trrap C T 5: 144,744,201 (GRCm39) silent Het
Ttn G T 2: 76,775,914 (GRCm39) N1709K probably damaging Het
Ube3a T C 7: 58,926,768 (GRCm39) probably benign Het
Ube3c T C 5: 29,804,054 (GRCm39) probably benign Het
Unc80 T C 1: 66,567,123 (GRCm39) S910P probably damaging Het
Usp30 G A 5: 114,257,682 (GRCm39) R280Q possibly damaging Het
Vsx1 T C 2: 150,530,457 (GRCm39) S142G possibly damaging Het
Wdr95 T G 5: 149,517,947 (GRCm39) C360G probably benign Het
Zbtb4 A G 11: 69,669,040 (GRCm39) I588V probably benign Het
Zdhhc4 A T 5: 143,310,604 (GRCm39) probably benign Het
Zfp568 C A 7: 29,697,288 (GRCm39) N69K probably damaging Het
Other mutations in Ighv1-74
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01676:Ighv1-74 APN 12 115,766,323 (GRCm39) missense possibly damaging 0.93
R4597:Ighv1-74 UTSW 12 115,766,276 (GRCm39) missense probably damaging 1.00
R5104:Ighv1-74 UTSW 12 115,766,507 (GRCm39) missense possibly damaging 0.94
R5309:Ighv1-74 UTSW 12 115,766,501 (GRCm39) missense probably damaging 0.98
R5312:Ighv1-74 UTSW 12 115,766,501 (GRCm39) missense probably damaging 0.98
R6988:Ighv1-74 UTSW 12 115,766,383 (GRCm39) missense probably damaging 1.00
R7260:Ighv1-74 UTSW 12 115,766,372 (GRCm39) missense probably benign 0.37
R7911:Ighv1-74 UTSW 12 115,766,410 (GRCm39) missense probably damaging 1.00
R8784:Ighv1-74 UTSW 12 115,766,480 (GRCm39) missense probably benign 0.22
R9081:Ighv1-74 UTSW 12 115,766,454 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGGATGTGGTTACAACACTGTG -3'
(R):5'- CTCACAGTAGCAGGCTTGAG -3'

Sequencing Primer
(F):5'- GTGTATTGCACAGTAATAGACCGC -3'
(R):5'- CAGGCTTGAGGTCTGGCCATATAC -3'
Posted On 2017-03-31