Incidental Mutation 'R6988:Ighv1-74'
ID 543101
Institutional Source Beutler Lab
Gene Symbol Ighv1-74
Ensembl Gene ENSMUSG00000094124
Gene Name immunoglobulin heavy variable V1-74
Synonyms Gm16710
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R6988 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 115766310-115766700 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115766383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 79 (Y79C)
Ref Sequence ENSEMBL: ENSMUSP00000143597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103543] [ENSMUST00000196587]
AlphaFold A0A075B5Y1
Predicted Effect possibly damaging
Transcript: ENSMUST00000103543
AA Change: Y78C

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000100324
Gene: ENSMUSG00000094124
AA Change: Y78C

DomainStartEndE-ValueType
IGv 35 116 1.86e-30 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000196587
AA Change: Y79C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143597
Gene: ENSMUSG00000094124
AA Change: Y79C

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 7.9e-33 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik T G 4: 137,181,890 (GRCm39) L15W probably damaging Het
4930550C14Rik G A 9: 53,323,056 (GRCm39) V31I possibly damaging Het
Aadacl4fm4 A G 4: 144,412,895 (GRCm39) F15S probably benign Het
Adgre1 C T 17: 57,715,445 (GRCm39) S255F probably benign Het
Aff4 T G 11: 53,289,064 (GRCm39) S404R probably damaging Het
Akr1c19 A T 13: 4,283,757 (GRCm39) probably benign Het
Ankrd31 T A 13: 97,014,757 (GRCm39) I1342K probably damaging Het
Arhgap5 T A 12: 52,564,908 (GRCm39) D626E possibly damaging Het
Arhgef1 G A 7: 24,616,348 (GRCm39) V332I probably benign Het
AY358078 A G 14: 52,063,644 (GRCm39) E430G probably damaging Het
B4gat1 T A 19: 5,090,462 (GRCm39) I395N probably benign Het
Bub1b T A 2: 118,467,311 (GRCm39) I878N probably damaging Het
Ccdc150 C T 1: 54,394,868 (GRCm39) Q745* probably null Het
Ccl19 A T 4: 42,754,885 (GRCm39) I87N probably damaging Het
Ces2g G C 8: 105,690,540 (GRCm39) G107A probably benign Het
Chpt1 A G 10: 88,324,268 (GRCm39) V180A probably damaging Het
Col2a1 T C 15: 97,902,335 (GRCm39) T14A unknown Het
Dnah7a T C 1: 53,621,784 (GRCm39) I1114V possibly damaging Het
Dnah7c T C 1: 46,705,373 (GRCm39) I2462T possibly damaging Het
Dnah8 T C 17: 30,862,249 (GRCm39) F208S probably damaging Het
Dnhd1 A G 7: 105,363,417 (GRCm39) E3993G probably damaging Het
Erv3 C T 2: 131,697,886 (GRCm39) D158N possibly damaging Het
Exoc6 T A 19: 37,597,539 (GRCm39) F647I probably damaging Het
Fbrs G A 7: 127,078,680 (GRCm39) probably benign Het
Fgfr1op2 T C 6: 146,491,463 (GRCm39) F109L probably damaging Het
Fv1 T C 4: 147,953,728 (GRCm39) F98S possibly damaging Het
H2-M10.1 T C 17: 36,636,484 (GRCm39) K107E probably benign Het
Hspg2 A T 4: 137,256,201 (GRCm39) Q1436L probably damaging Het
Kcnj1 G A 9: 32,307,881 (GRCm39) V102I probably benign Het
Mnt C A 11: 74,733,635 (GRCm39) probably benign Het
Mrpl15 T C 1: 4,852,883 (GRCm39) T112A probably benign Het
Ncdn T C 4: 126,640,982 (GRCm39) D506G probably benign Het
Ogdh C T 11: 6,263,806 (GRCm39) R81* probably null Het
Or6c2 T A 10: 129,362,542 (GRCm39) S149T probably benign Het
Or6c217 G C 10: 129,738,278 (GRCm39) F100L probably damaging Het
Pole G T 5: 110,477,449 (GRCm39) V1863F probably damaging Het
Pramel5 T C 4: 144,000,577 (GRCm39) probably benign Het
Rabep1 A G 11: 70,825,363 (GRCm39) K636E probably damaging Het
Rasgrf2 T A 13: 92,033,754 (GRCm39) Y1151F probably benign Het
Rrad A G 8: 105,357,268 (GRCm39) V93A probably damaging Het
Sesn3 A T 9: 14,221,553 (GRCm39) R118* probably null Het
Slc27a3 T C 3: 90,293,597 (GRCm39) N596S probably benign Het
Snx19 C A 9: 30,340,231 (GRCm39) D456E probably damaging Het
Spata31h1 T C 10: 82,127,733 (GRCm39) D1759G possibly damaging Het
Supt20 T C 3: 54,606,018 (GRCm39) S35P probably damaging Het
Syde2 G T 3: 145,725,564 (GRCm39) R885L probably benign Het
Synm G A 7: 67,383,406 (GRCm39) L1419F probably damaging Het
Tekt2 A G 4: 126,217,236 (GRCm39) F221L probably benign Het
Ticam1 C T 17: 56,576,900 (GRCm39) E732K probably benign Het
Tmem39b A G 4: 129,586,941 (GRCm39) I90T possibly damaging Het
Trgv6 G T 13: 19,374,814 (GRCm39) G40W possibly damaging Het
Trib2 A G 12: 15,865,339 (GRCm39) S79P probably damaging Het
Usp32 T C 11: 84,900,969 (GRCm39) M1084V probably benign Het
Vmn1r181 T C 7: 23,684,272 (GRCm39) F246L probably damaging Het
Wnt16 A G 6: 22,288,510 (GRCm39) D2G probably damaging Het
Zfp462 A G 4: 55,080,716 (GRCm39) E1357G probably benign Het
Zhx3 A G 2: 160,621,788 (GRCm39) M793T probably benign 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
R5956:Ighv1-74 UTSW 12 115,766,455 (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'- GCAGTTTGCTACTCATCCAGG -3'
(R):5'- GGTGACAATGACATCCACTTTGC -3'

Sequencing Primer
(F):5'- CAGGGTTTCTGACACTCTCAGG -3'
(R):5'- TCCCAGGTCCAACTGCAG -3'
Posted On 2018-11-28