Incidental Mutation 'IGL03110:Igkv17-121'
ID 419142
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igkv17-121
Ensembl Gene ENSMUSG00000076514
Gene Name immunoglobulin kappa variable 17-121
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL03110
Quality Score
Status
Chromosome 6
Chromosomal Location 68013802-68014302 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 68013851 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 17 (V17D)
Ref Sequence ENSEMBL: ENSMUSP00000143096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103315] [ENSMUST00000197515]
AlphaFold A0A075B5K3
Predicted Effect possibly damaging
Transcript: ENSMUST00000103315
AA Change: V17D

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000100116
Gene: ENSMUSG00000076514
AA Change: V17D

DomainStartEndE-ValueType
low complexity region 5 15 N/A INTRINSIC
IGv 39 111 1.34e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000197515
AA Change: V17D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000143096
Gene: ENSMUSG00000076514
AA Change: V17D

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IGv 40 112 5.6e-16 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A G 5: 114,333,295 (GRCm39) E473G probably damaging Het
Acp7 T C 7: 28,310,464 (GRCm39) M458V probably benign Het
Acrbp G T 6: 125,039,436 (GRCm39) C485F probably damaging Het
Actn2 T C 13: 12,324,493 (GRCm39) I117V probably benign Het
Ahr T C 12: 35,554,970 (GRCm39) E383G probably damaging Het
Cacna2d4 A T 6: 119,213,698 (GRCm39) H39L probably benign Het
Cdh11 G T 8: 103,400,502 (GRCm39) N155K probably damaging Het
Cldnd1 T A 16: 58,549,959 (GRCm39) N47K possibly damaging Het
Ddb1 C T 19: 10,590,309 (GRCm39) R279W probably damaging Het
Dido1 A T 2: 180,331,135 (GRCm39) D104E probably damaging Het
Dnah1 A T 14: 30,988,674 (GRCm39) S3386T probably benign Het
Galnt18 T A 7: 111,147,920 (GRCm39) E352V probably benign Het
Gm5407 T A 16: 49,117,757 (GRCm39) noncoding transcript Het
Gucy1b2 T C 14: 62,671,283 (GRCm39) probably benign Het
Guf1 C A 5: 69,715,820 (GRCm39) L87I probably damaging Het
Hikeshi A G 7: 89,585,034 (GRCm39) S57P probably damaging Het
Itgad T C 7: 127,785,157 (GRCm39) V324A probably damaging Het
Lama1 T A 17: 68,105,981 (GRCm39) L2072Q probably benign Het
Lrrc31 T C 3: 30,733,415 (GRCm39) E433G probably benign Het
Mrc1 T A 2: 14,298,289 (GRCm39) L715* probably null Het
Nbeal2 T G 9: 110,460,501 (GRCm39) K1778Q probably damaging Het
Or4c35 A T 2: 89,808,493 (GRCm39) I124F probably damaging Het
Or51a39 C A 7: 102,363,090 (GRCm39) G177C probably damaging Het
Or5m3 T A 2: 85,838,942 (GRCm39) V274E probably damaging Het
Ppp1r3a T A 6: 14,722,064 (GRCm39) probably benign Het
Prss37 T C 6: 40,495,984 (GRCm39) Y6C probably benign Het
Rapgef6 A G 11: 54,586,915 (GRCm39) Q1602R probably damaging Het
Rbm15b T C 9: 106,763,173 (GRCm39) T332A probably damaging Het
S100a7l2 C T 3: 90,995,626 (GRCm39) R92H unknown Het
Snrnp70 C A 7: 45,026,283 (GRCm39) probably benign Het
Spidr T C 16: 15,707,618 (GRCm39) E893G probably damaging Het
Stxbp2 T C 8: 3,683,342 (GRCm39) I74T probably damaging Het
Tgm2 G A 2: 157,973,410 (GRCm39) Q234* probably null Het
Thbd T C 2: 148,248,716 (GRCm39) D384G probably benign Het
Zan T C 5: 137,418,278 (GRCm39) N2940S unknown Het
Zmat3 T A 3: 32,399,701 (GRCm39) N100I probably damaging Het
Other mutations in Igkv17-121
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01821:Igkv17-121 APN 6 68,013,848 (GRCm39) missense unknown
IGL03105:Igkv17-121 APN 6 68,014,284 (GRCm39) missense probably damaging 1.00
R4976:Igkv17-121 UTSW 6 68,014,068 (GRCm39) missense probably benign 0.19
R7978:Igkv17-121 UTSW 6 68,013,806 (GRCm39) missense unknown
Posted On 2016-08-02