Incidental Mutation 'R1225:Ighv6-4'
ID 152877
Institutional Source Beutler Lab
Gene Symbol Ighv6-4
Ensembl Gene ENSMUSG00000094174
Gene Name immunoglobulin heavy variable V6-4
Synonyms
MMRRC Submission 039294-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.223) question?
Stock # R1225 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 114370094-114370393 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 114370170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 75 (D75V)
Ref Sequence ENSEMBL: ENSMUSP00000136881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000177949] [ENSMUST00000191918]
AlphaFold J3QNN6
Predicted Effect probably damaging
Transcript: ENSMUST00000177949
AA Change: D75V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136881
Gene: ENSMUSG00000094174
AA Change: D75V

DomainStartEndE-ValueType
IGv 17 99 9.6e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000191918
AA Change: D94V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141798
Gene: ENSMUSG00000094174
AA Change: D94V

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 119 3.3e-30 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730013G03Rik T A 1: 192,515,953 (GRCm39) noncoding transcript Het
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Ahnak T A 19: 8,980,247 (GRCm39) D510E probably damaging Het
Angptl4 C T 17: 34,000,165 (GRCm39) A68T possibly damaging Het
Arid1a A G 4: 133,414,676 (GRCm39) V1185A unknown Het
Atp2c2 C A 8: 120,461,984 (GRCm39) Q286K probably damaging Het
Blzf1 T C 1: 164,127,165 (GRCm39) E209G probably damaging Het
Bmp6 A G 13: 38,530,257 (GRCm39) T117A probably benign Het
Cmip T C 8: 118,172,110 (GRCm39) F394L probably damaging Het
Col6a3 T A 1: 90,739,238 (GRCm39) D330V probably damaging Het
Crebbp A T 16: 3,944,820 (GRCm39) S491R probably benign Het
Dedd G A 1: 171,167,863 (GRCm39) probably null Het
Dennd4a A G 9: 64,818,957 (GRCm39) H1704R probably benign Het
Dicer1 C T 12: 104,657,866 (GRCm39) V1903I probably damaging Het
Dnah9 A G 11: 65,761,886 (GRCm39) V3868A possibly damaging Het
Eif5b A G 1: 38,076,709 (GRCm39) I674V probably damaging Het
F13a1 T C 13: 37,209,825 (GRCm39) N47D probably benign Het
Fancd2 T C 6: 113,512,822 (GRCm39) S53P probably damaging Het
Fsip1 C A 2: 118,078,831 (GRCm39) L170F probably damaging Het
Git2 A T 5: 114,871,239 (GRCm39) probably benign Het
Gm9742 T C 13: 8,079,875 (GRCm39) noncoding transcript Het
Heatr4 C T 12: 84,024,820 (GRCm39) E334K probably benign Het
Hoga1 T G 19: 42,058,628 (GRCm39) V110G probably damaging Het
Inhca A T 9: 103,132,038 (GRCm39) probably benign Het
Med15 G T 16: 17,540,652 (GRCm39) S31R probably damaging Het
Nbeal2 T C 9: 110,461,954 (GRCm39) E1467G probably damaging Het
Or2ag1 A T 7: 106,313,731 (GRCm39) D52E probably benign Het
Or2t6 T A 14: 14,175,600 (GRCm38) I161F possibly damaging Het
Or5ac19 T C 16: 59,089,587 (GRCm39) T148A probably benign Het
Papss1 T C 3: 131,285,062 (GRCm39) probably benign Het
Pde4d A T 13: 110,086,755 (GRCm39) M610L probably benign Het
Prickle4 T G 17: 47,999,614 (GRCm39) probably null Het
Sema3g A G 14: 30,942,636 (GRCm39) Y79C probably damaging Het
Setbp1 T A 18: 78,901,423 (GRCm39) D748V probably damaging Het
Slc46a2 A T 4: 59,914,125 (GRCm39) V266E probably benign Het
Slc9a8 T C 2: 167,313,443 (GRCm39) I435T probably benign Het
Snx29 T C 16: 11,238,550 (GRCm39) probably benign Het
Son C T 16: 91,454,228 (GRCm39) R992C probably damaging Het
Stxbp5 T C 10: 9,688,135 (GRCm39) N389D possibly damaging Het
Vmn1r28 C T 6: 58,242,951 (GRCm39) Q265* probably null Het
Other mutations in Ighv6-4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03007:Ighv6-4 APN 12 114,370,213 (GRCm39) missense possibly damaging 0.56
R0335:Ighv6-4 UTSW 12 114,370,294 (GRCm39) missense probably benign 0.09
R0547:Ighv6-4 UTSW 12 114,370,221 (GRCm39) missense probably damaging 1.00
R1871:Ighv6-4 UTSW 12 114,370,221 (GRCm39) missense probably benign 0.11
R6667:Ighv6-4 UTSW 12 114,370,152 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- TAAGAGGCTGACTGGCTCAGGTAG -3'
(R):5'- CCAGAGTGATGTGAACCTGGAAGTG -3'

Sequencing Primer
(F):5'- TAGCTCCAGTCTCTAGGTTACATGG -3'
(R):5'- TCTGGAGGAGGCTTAGTTAAACC -3'
Posted On 2014-01-29