Incidental Mutation 'IGL03409:Igkv18-36'
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ID421721
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igkv18-36
Ensembl Gene ENSMUSG00000076572
Gene Nameimmunoglobulin kappa chain variable 18-36
SynonymsGm16689
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.226) question?
Stock #IGL03409
Quality Score
Status
Chromosome6
Chromosomal Location69992465-69992977 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 69992605 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 68 (H68Q)
Ref Sequence ENSEMBL: ENSMUSP00000100174 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103373] [ENSMUST00000200160]
Predicted Effect possibly damaging
Transcript: ENSMUST00000103373
AA Change: H68Q

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000100174
Gene: ENSMUSG00000076572
AA Change: H68Q

DomainStartEndE-ValueType
IGv 37 109 3.76e-17 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000200160
AA Change: H67Q

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000142735
Gene: ENSMUSG00000076572
AA Change: H67Q

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IGv 36 108 1.5e-19 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 A T 8: 123,965,023 M401K possibly damaging Het
Ablim3 T A 18: 61,845,851 H203L probably damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Aox2 T G 1: 58,354,429 D1249E possibly damaging Het
Astn2 T C 4: 65,435,186 I1116V possibly damaging Het
Atad3a T C 4: 155,747,350 D489G probably damaging Het
Caln1 G T 5: 130,617,878 G52C probably damaging Het
Cbwd1 A G 19: 24,922,766 V289A probably benign Het
Clcn7 A G 17: 25,155,385 T467A probably damaging Het
Col17a1 A T 19: 47,666,540 I599N possibly damaging Het
Cul2 T A 18: 3,429,593 H547Q probably damaging Het
Cxcl14 T C 13: 56,292,507 T80A probably damaging Het
Dscaml1 T A 9: 45,670,103 Y407N probably damaging Het
Edc4 T A 8: 105,885,116 I108N probably damaging Het
Exoc2 T C 13: 30,940,737 probably benign Het
Gm1110 T G 9: 26,896,620 H290P probably benign Het
Gm16223 T A 5: 42,067,993 W12R unknown Het
Herc2 C A 7: 56,228,569 H4623Q probably damaging Het
Kif7 T C 7: 79,707,553 E635G probably benign Het
Olfr1160 A T 2: 88,005,895 N285K probably damaging Het
Olfr1214 A T 2: 88,987,587 I205N possibly damaging Het
Olfr328 T C 11: 58,551,562 K226E probably benign Het
Olfr618 T A 7: 103,597,367 M17K possibly damaging Het
Pam C A 1: 97,864,329 A456S probably benign Het
Pgap3 T C 11: 98,398,938 T76A possibly damaging Het
Pkd2 C A 5: 104,489,349 Y609* probably null Het
Plcg2 A G 8: 117,583,495 D362G probably damaging Het
Polr3h C A 15: 81,917,394 A94S probably benign Het
Rhod T C 19: 4,432,158 D76G probably damaging Het
Rims2 T C 15: 39,456,733 V670A probably damaging Het
Rpap3 G A 15: 97,681,739 T464M possibly damaging Het
Rufy1 T A 11: 50,406,483 I381L probably benign Het
Slc1a4 T C 11: 20,306,506 T442A probably damaging Het
Slc9b1 T C 3: 135,394,909 S472P probably damaging Het
Tmtc3 T C 10: 100,451,432 T501A possibly damaging Het
Tnpo3 C A 6: 29,555,182 D801Y probably damaging Het
Ttc39b T C 4: 83,260,956 Y111C probably damaging Het
Ubr4 A T 4: 139,399,929 R543* probably null Het
Vmn1r74 T G 7: 11,847,313 L180R probably damaging Het
Vps45 T G 3: 96,053,089 E80A probably benign Het
Zfp677 T C 17: 21,396,845 Y55H probably damaging Het
Other mutations in Igkv18-36
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4715:Igkv18-36 UTSW 6 69992591 missense probably damaging 1.00
R5835:Igkv18-36 UTSW 6 69992528 missense probably damaging 0.99
Z1088:Igkv18-36 UTSW 6 69992499 missense probably damaging 0.99
Posted On2016-08-02