Incidental Mutation 'R0020:Ighv6-5'
ID 201378
Institutional Source Beutler Lab
Gene Symbol Ighv6-5
Ensembl Gene ENSMUSG00000096407
Gene Name immunoglobulin heavy variable V6-5
Synonyms
MMRRC Submission 038315-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.218) question?
Stock # R0020 (G1)
Quality Score 55
Status Validated
Chromosome 12
Chromosomal Location 114380216-114380515 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 114380241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 92 (D92G)
Ref Sequence ENSEMBL: ENSMUSP00000136790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000179796] [ENSMUST00000179796] [ENSMUST00000193936]
AlphaFold J3QK03
Predicted Effect probably null
Transcript: ENSMUST00000179796
AA Change: D92G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136790
Gene: ENSMUSG00000096407
AA Change: D92G

DomainStartEndE-ValueType
IGv 17 99 9.45e-23 SMART
Predicted Effect probably null
Transcript: ENSMUST00000179796
AA Change: D92G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136790
Gene: ENSMUSG00000096407
AA Change: D92G

DomainStartEndE-ValueType
IGv 17 99 9.45e-23 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000193936
AA Change: D111G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141679
Gene: ENSMUSG00000096407
AA Change: D111G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 119 3.4e-29 SMART
Meta Mutation Damage Score 0.9464 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.9%
  • 20x: 96.4%
Validation Efficiency 99% (67/68)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ado T C 10: 67,383,927 (GRCm39) D226G probably benign Het
Agfg2 C T 5: 137,652,064 (GRCm39) V432M probably benign Het
Atf2 T C 2: 73,676,628 (GRCm39) D122G possibly damaging Het
Brd10 A T 19: 29,693,597 (GRCm39) D2032E probably damaging Het
Cd2bp2 G A 7: 126,792,996 (GRCm39) T342M probably damaging Het
Cip2a A T 16: 48,821,975 (GRCm39) H201L probably damaging Het
Col6a3 T A 1: 90,739,272 (GRCm39) I319F probably damaging Het
Cst11 T A 2: 148,613,253 (GRCm39) Y24F probably damaging Het
Cstb T A 10: 78,263,170 (GRCm39) V65E probably benign Het
Cyp2j11 G A 4: 96,195,641 (GRCm39) H352Y probably benign Het
D130043K22Rik T A 13: 25,038,475 (GRCm39) probably benign Het
Dbh A G 2: 27,060,584 (GRCm39) probably benign Het
Dhdh T C 7: 45,137,528 (GRCm39) K53R probably benign Het
Drc3 A G 11: 60,261,371 (GRCm39) Y174C probably damaging Het
Ezr G T 17: 7,010,126 (GRCm39) Q308K probably damaging Het
F3 A T 3: 121,525,265 (GRCm39) N169Y probably damaging Het
Fbn2 G T 18: 58,238,236 (GRCm39) T587K probably damaging Het
Fhl5 A T 4: 25,200,054 (GRCm39) V260E probably benign Het
Glyr1 A G 16: 4,854,913 (GRCm39) I55T probably damaging Het
Gm12695 G C 4: 96,657,972 (GRCm39) P66A probably damaging Het
Gon4l G T 3: 88,766,244 (GRCm39) V428L probably damaging Het
Inhba A C 13: 16,200,949 (GRCm39) K170N possibly damaging Het
Kng2 A G 16: 22,816,046 (GRCm39) V317A probably benign Het
Larp1 T A 11: 57,940,849 (GRCm39) D658E probably damaging Het
Map3k14 T C 11: 103,118,500 (GRCm39) E562G probably damaging Het
Megf10 G T 18: 57,420,965 (GRCm39) V868F possibly damaging Het
Nap1l1 A C 10: 111,326,884 (GRCm39) E148D probably benign Het
Nlrp4a A T 7: 26,149,797 (GRCm39) H468L probably damaging Het
Nphs1 G T 7: 30,162,633 (GRCm39) V357L probably benign Het
Or10aa3 T A 1: 173,878,413 (GRCm39) V158E probably damaging Het
Pclo A G 5: 14,719,687 (GRCm39) T1275A unknown Het
Pde4d T A 13: 110,091,104 (GRCm39) C35S possibly damaging Het
Pkd1l1 A G 11: 8,825,765 (GRCm39) probably benign Het
Pkd2 A G 5: 104,651,382 (GRCm39) E910G probably damaging Het
Pot1b T A 17: 55,960,429 (GRCm39) M634L probably benign Het
Ppp2r5c C T 12: 110,541,257 (GRCm39) Q469* probably null Het
Ppp6r2 T A 15: 89,143,342 (GRCm39) M163K probably damaging Het
Prss43 C A 9: 110,657,580 (GRCm39) probably benign Het
Rb1cc1 C A 1: 6,334,772 (GRCm39) N1444K possibly damaging Het
Rimoc1 T C 15: 4,021,350 (GRCm39) probably benign Het
Scube2 A G 7: 109,430,095 (GRCm39) probably benign Het
Slamf9 T C 1: 172,303,082 (GRCm39) S7P possibly damaging Het
Slc35b2 T A 17: 45,877,782 (GRCm39) M303K probably damaging Het
Slc4a7 T A 14: 14,796,108 (GRCm38) F1116I probably benign Het
Slco1a8 A T 6: 141,918,076 (GRCm39) V600E possibly damaging Het
Smarcad1 T A 6: 65,060,991 (GRCm39) probably benign Het
Tamalin T C 15: 101,128,433 (GRCm39) V157A probably damaging Het
Tns3 A C 11: 8,495,227 (GRCm39) probably null Het
Zfp282 T G 6: 47,856,943 (GRCm39) W59G probably damaging Het
Zfp746 C A 6: 48,041,641 (GRCm39) A362S probably benign Het
Other mutations in Ighv6-5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02532:Ighv6-5 APN 12 114,380,424 (GRCm39) missense probably benign 0.04
IGL02928:Ighv6-5 APN 12 114,380,412 (GRCm39) missense probably benign 0.42
IGL03117:Ighv6-5 APN 12 114,380,320 (GRCm39) missense possibly damaging 0.95
IGL02991:Ighv6-5 UTSW 12 114,380,315 (GRCm39) missense probably benign
R4386:Ighv6-5 UTSW 12 114,380,337 (GRCm39) missense possibly damaging 0.84
R5067:Ighv6-5 UTSW 12 114,380,191 (GRCm39) splice site probably null
R6154:Ighv6-5 UTSW 12 114,380,362 (GRCm39) missense probably benign 0.04
R7133:Ighv6-5 UTSW 12 114,380,395 (GRCm39) missense probably benign 0.00
R7617:Ighv6-5 UTSW 12 114,380,626 (GRCm39) critical splice donor site probably benign
R8047:Ighv6-5 UTSW 12 114,380,191 (GRCm39) splice site probably null
R8986:Ighv6-5 UTSW 12 114,380,382 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCCCCTCAAATAGTTGTCAGGACAC -3'
(R):5'- TCCATGAAACTCTCTTGTGCAGCC -3'

Sequencing Primer
(F):5'- AAGATGCTAACTGCCTCAGGTTC -3'
(R):5'- CTCTTGTGCAGCCTCTGG -3'
Posted On 2014-06-02