Incidental Mutation 'R6540:Ighv7-4'
ID 520712
Institutional Source Beutler Lab
Gene Symbol Ighv7-4
Ensembl Gene ENSMUSG00000076668
Gene Name immunoglobulin heavy variable 7-4
Synonyms Gm16839
MMRRC Submission 044666-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R6540 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 114186408-114186874 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114186470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 101 (Y101H)
Ref Sequence ENSEMBL: ENSMUSP00000142041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103477] [ENSMUST00000192499]
AlphaFold A0A075B5S5
Predicted Effect possibly damaging
Transcript: ENSMUST00000103477
AA Change: Y100H

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000100258
Gene: ENSMUSG00000076668
AA Change: Y100H

DomainStartEndE-ValueType
IGv 35 118 1.18e-32 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000192499
AA Change: Y101H

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142041
Gene: ENSMUSG00000076668
AA Change: Y101H

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 119 4.9e-35 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,660,779 (GRCm39) Y143H possibly damaging Het
Aco1 G A 4: 40,186,367 (GRCm39) R593Q probably benign Het
Adamts2 T C 11: 50,679,567 (GRCm39) V849A possibly damaging Het
Ash1l A T 3: 88,892,368 (GRCm39) T1416S probably damaging Het
Cdc5l A G 17: 45,737,570 (GRCm39) W63R probably damaging Het
Cep95 T A 11: 106,692,328 (GRCm39) D169E probably damaging Het
Col14a1 A C 15: 55,235,977 (GRCm39) N297T unknown Het
Cp T C 3: 20,018,693 (GRCm39) probably null Het
Fbxl19 G T 7: 127,347,525 (GRCm39) probably benign Het
Flnc T C 6: 29,446,376 (GRCm39) V931A possibly damaging Het
Foxj2 A G 6: 122,810,202 (GRCm39) H187R probably benign Het
Hectd4 G A 5: 121,441,634 (GRCm39) V1199I probably benign Het
Igkv10-94 T A 6: 68,681,507 (GRCm39) Y111F probably benign Het
Lin28a C T 4: 133,745,372 (GRCm39) V74M possibly damaging Het
Lrrc49 T C 9: 60,592,335 (GRCm39) N53S possibly damaging Het
Mroh9 T G 1: 162,866,541 (GRCm39) T701P possibly damaging Het
Ndst4 A T 3: 125,515,801 (GRCm39) K309* probably null Het
Nlrp9a T C 7: 26,256,817 (GRCm39) V145A possibly damaging Het
Or2l5 T C 16: 19,333,571 (GRCm39) I272V probably benign Het
Ovgp1 A T 3: 105,893,897 (GRCm39) K557* probably null Het
Pde4b T C 4: 102,459,073 (GRCm39) L546P probably damaging Het
Pkd1 G A 17: 24,794,951 (GRCm39) V2213M probably damaging Het
Plekhh1 A G 12: 79,111,263 (GRCm39) I542V probably benign Het
Ppan A G 9: 20,802,506 (GRCm39) probably null Het
Prdm15 A T 16: 97,637,005 (GRCm39) V104E probably benign Het
Semp2l2a A C 8: 13,887,573 (GRCm39) S173A probably benign Het
Sik3 A G 9: 46,123,351 (GRCm39) H1050R probably benign Het
Slc35d3 A G 10: 19,725,086 (GRCm39) F257L possibly damaging Het
Tfip11 A G 5: 112,482,263 (GRCm39) probably null Het
Tmem132d A G 5: 128,345,596 (GRCm39) S309P possibly damaging Het
Tmem87a T C 2: 120,234,400 (GRCm39) I48V probably benign Het
V1rd19 T A 7: 23,703,056 (GRCm39) L174* probably null Het
Zfp729a A G 13: 67,767,767 (GRCm39) C821R possibly damaging Het
Zfp970 C A 2: 177,167,388 (GRCm39) H321N probably damaging Het
Zzef1 T C 11: 72,804,055 (GRCm39) L2599P probably damaging Het
Other mutations in Ighv7-4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01116:Ighv7-4 APN 12 114,186,653 (GRCm39) missense probably damaging 1.00
G1patch:Ighv7-4 UTSW 12 114,186,489 (GRCm39) missense probably damaging 1.00
R4172:Ighv7-4 UTSW 12 114,186,635 (GRCm39) missense probably damaging 1.00
R4801:Ighv7-4 UTSW 12 114,186,899 (GRCm39) start gained probably benign
R4802:Ighv7-4 UTSW 12 114,186,899 (GRCm39) start gained probably benign
R6193:Ighv7-4 UTSW 12 114,186,445 (GRCm39) missense possibly damaging 0.82
R6725:Ighv7-4 UTSW 12 114,186,489 (GRCm39) missense probably damaging 1.00
R9473:Ighv7-4 UTSW 12 114,186,722 (GRCm39) missense probably benign
R9488:Ighv7-4 UTSW 12 114,186,619 (GRCm39) missense probably damaging 1.00
Z1088:Ighv7-4 UTSW 12 114,186,517 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATGGTAAGTTCCAGAGAAAACTCC -3'
(R):5'- AGACTCTCCTGTGCAGCTTC -3'

Sequencing Primer
(F):5'- TCCAGAGAAAACTCCAGATGTTAAG -3'
(R):5'- GTGCAGCTTCTGGATTCACC -3'
Posted On 2018-06-06