Incidental Mutation 'IGL01150:Igkv12-89'
ID51396
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igkv12-89
Ensembl Gene ENSMUSG00000076534
Gene Nameimmunoglobulin kappa chain variable 12-89
SynonymsGm16905
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #IGL01150
Quality Score
Status
Chromosome6
Chromosomal Location68834846-68835307 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 68835143 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 14 (V14A)
Ref Sequence ENSEMBL: ENSMUSP00000143728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103335] [ENSMUST00000199143]
Predicted Effect probably benign
Transcript: ENSMUST00000103335
SMART Domains Protein: ENSMUSP00000100136
Gene: ENSMUSG00000076534

DomainStartEndE-ValueType
IGv 34 106 2.62e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199143
AA Change: V14A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000143728
Gene: ENSMUSG00000076534
AA Change: V14A

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
IGv 35 107 1.1e-18 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,702,550 D507G possibly damaging Het
Actl6a A G 3: 32,712,164 I60V probably benign Het
Adra2c T C 5: 35,281,141 F419S probably damaging Het
Afap1l2 T C 19: 56,930,186 Y105C probably damaging Het
Arid4b C T 13: 14,195,374 Q1152* probably null Het
Arsj A G 3: 126,438,784 D393G probably benign Het
Avp T C 2: 130,580,673 probably benign Het
Cacna2d3 C T 14: 29,183,641 V390I possibly damaging Het
Ccdc25 T A 14: 65,860,202 M195K possibly damaging Het
Cdhr2 T A 13: 54,731,118 S979T probably benign Het
Cog2 T C 8: 124,542,891 F390S possibly damaging Het
Dennd5b A G 6: 149,068,085 V290A probably benign Het
Ebf1 T C 11: 44,869,100 L188P probably damaging Het
Fam129a T C 1: 151,717,721 V719A probably benign Het
Galt T C 4: 41,757,786 probably benign Het
Gm12830 C T 4: 114,845,064 T141I unknown Het
Herc2 T A 7: 56,181,133 W2965R probably damaging Het
Hrg A G 16: 22,959,159 probably null Het
Ighv8-5 T C 12: 115,067,574 Y115C probably damaging Het
Nav2 A C 7: 49,452,521 T295P probably benign Het
Nrg1 G A 8: 31,917,875 T110I probably damaging Het
Olfr1183 T C 2: 88,462,075 V264A possibly damaging Het
Olfr555 A C 7: 102,659,492 K224Q probably benign Het
Olfr847 A T 9: 19,375,239 I214N probably damaging Het
Pclo T C 5: 14,676,912 probably benign Het
Polg2 T C 11: 106,777,432 probably null Het
Ptges G T 2: 30,892,708 R111S probably damaging Het
Rbbp4 T C 4: 129,322,875 probably benign Het
Rundc3a T C 11: 102,393,776 V34A probably benign Het
Scn3a C A 2: 65,497,365 probably null Het
Sec14l3 T C 11: 4,076,238 probably benign Het
Strip1 C T 3: 107,626,731 probably null Het
Svep1 T A 4: 58,070,302 I2495F probably benign Het
Syne1 A G 10: 5,443,154 S71P probably damaging Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Tmem161b C T 13: 84,292,407 R133* probably null Het
Tnnc2 A T 2: 164,777,833 I71N probably damaging Het
Vps13d T C 4: 145,149,275 N1554S probably benign Het
Wfdc3 A T 2: 164,732,203 probably benign Het
Zfp648 A T 1: 154,205,364 H423L probably damaging Het
Other mutations in Igkv12-89
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01713:Igkv12-89 APN 6 68835312 unclassified probably benign
IGL02364:Igkv12-89 APN 6 68834986 nonsense probably null
FR4449:Igkv12-89 UTSW 6 68835280 small insertion probably benign
R7110:Igkv12-89 UTSW 6 68835131 missense probably damaging 1.00
R7283:Igkv12-89 UTSW 6 68835077 missense probably damaging 1.00
R7637:Igkv12-89 UTSW 6 68835099 missense probably benign 0.26
RF014:Igkv12-89 UTSW 6 68835286 small insertion probably benign
RF042:Igkv12-89 UTSW 6 68835286 small insertion probably benign
Posted On2013-06-21