Incidental Mutation 'R5745:Ighv3-4'
ID 445762
Institutional Source Beutler Lab
Gene Symbol Ighv3-4
Ensembl Gene ENSMUSG00000103939
Gene Name immunoglobulin heavy variable V3-4
Synonyms
MMRRC Submission 043198-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # R5745 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 114217237-114217535 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 114217388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 68 (I68L)
Ref Sequence ENSEMBL: ENSMUSP00000141962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000193408]
AlphaFold A0A0A6YXF1
Predicted Effect probably benign
Transcript: ENSMUST00000193408
AA Change: I68L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000141962
Gene: ENSMUSG00000103939
AA Change: I68L

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IGv 35 117 1.2e-29 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110082I17Rik G A 5: 139,349,828 (GRCm39) R74W probably damaging Het
4933407L21Rik T G 1: 85,858,995 (GRCm39) probably null Het
Adcy8 A T 15: 64,792,320 (GRCm39) I212N possibly damaging Het
Cobll1 T C 2: 64,928,801 (GRCm39) T879A probably damaging Het
Copb2 T C 9: 98,456,164 (GRCm39) S233P probably damaging Het
Cpa5 T A 6: 30,630,436 (GRCm39) M330K probably damaging Het
Dgcr8 A T 16: 18,098,307 (GRCm39) N361K probably benign Het
Dmxl1 A G 18: 49,979,653 (GRCm39) E96G probably benign Het
Dock8 T A 19: 25,107,761 (GRCm39) N830K probably benign Het
Ephb1 C T 9: 102,072,633 (GRCm39) D49N probably benign Het
Fer1l6 A G 15: 58,443,238 (GRCm39) I514V probably benign Het
Fpr1 A G 17: 18,097,344 (GRCm39) I215T probably benign Het
Hectd4 G A 5: 121,491,565 (GRCm39) V3668M possibly damaging Het
Intu A G 3: 40,647,402 (GRCm39) probably null Het
Kel C T 6: 41,675,961 (GRCm39) G243E probably damaging Het
Mycbp2 A C 14: 103,393,889 (GRCm39) S2781A possibly damaging Het
Myom2 T A 8: 15,172,705 (GRCm39) S1211T probably benign Het
Nrp1 A T 8: 129,194,929 (GRCm39) I462F probably benign Het
Or10d3 T C 9: 39,461,987 (GRCm39) Y60C probably damaging Het
Or6c5c T A 10: 129,299,307 (GRCm39) I254N probably damaging Het
Pcsk1 A C 13: 75,280,079 (GRCm39) S635R probably benign Het
Pms1 A T 1: 53,246,861 (GRCm39) Y280* probably null Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,127 (GRCm39) probably benign Het
Sema3b C A 9: 107,478,628 (GRCm39) A356S probably damaging Het
Shoc2 C A 19: 54,018,323 (GRCm39) T485K probably benign Het
Slc7a7 G A 14: 54,615,292 (GRCm39) S235L possibly damaging Het
Smcr8 A T 11: 60,674,977 (GRCm39) T918S probably benign Het
Tafa1 G A 6: 96,626,146 (GRCm39) R128Q probably damaging Het
Tle3 C A 9: 61,322,133 (GRCm39) F719L probably damaging Het
Vmn2r45 T A 7: 8,486,074 (GRCm39) I405L probably benign Het
Vmn2r57 A T 7: 41,097,895 (GRCm39) H57Q possibly damaging Het
Other mutations in Ighv3-4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3907:Ighv3-4 UTSW 12 114,217,538 (GRCm39) missense probably damaging 1.00
R3957:Ighv3-4 UTSW 12 114,217,300 (GRCm39) missense probably damaging 1.00
R4237:Ighv3-4 UTSW 12 114,217,533 (GRCm39) missense probably benign 0.00
R4238:Ighv3-4 UTSW 12 114,217,533 (GRCm39) missense probably benign 0.00
R4239:Ighv3-4 UTSW 12 114,217,533 (GRCm39) missense probably benign 0.00
R4355:Ighv3-4 UTSW 12 114,217,260 (GRCm39) missense probably benign 0.01
R5026:Ighv3-4 UTSW 12 114,217,382 (GRCm39) missense probably benign 0.03
R7068:Ighv3-4 UTSW 12 114,217,274 (GRCm39) missense probably damaging 0.98
R8472:Ighv3-4 UTSW 12 114,217,649 (GRCm39) missense probably benign 0.00
R8504:Ighv3-4 UTSW 12 114,217,544 (GRCm39) missense possibly damaging 0.93
R8880:Ighv3-4 UTSW 12 114,217,535 (GRCm39) missense possibly damaging 0.64
R8991:Ighv3-4 UTSW 12 114,217,266 (GRCm39) missense probably benign 0.40
R9523:Ighv3-4 UTSW 12 114,217,393 (GRCm39) missense probably damaging 1.00
R9656:Ighv3-4 UTSW 12 114,217,295 (GRCm39) missense possibly damaging 0.79
R9756:Ighv3-4 UTSW 12 114,217,448 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTGTCTGGGCTCACACTGG -3'
(R):5'- TGTTGCCACTTTATACATGTGC -3'

Sequencing Primer
(F):5'- CACTGGAGACTCAATACTGTGTC -3'
(R):5'- GAGCTTGACAGAAATGACTCTTC -3'
Posted On 2016-11-21