Incidental Mutation 'IGL02005:Klhl12'
ID183138
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl12
Ensembl Gene ENSMUSG00000026455
Gene Namekelch-like 12
SynonymsC3ip1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02005
Quality Score
Status
Chromosome1
Chromosomal Location134455531-134491018 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 134463914 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 95 (T95S)
Ref Sequence ENSEMBL: ENSMUSP00000112227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027725] [ENSMUST00000112232] [ENSMUST00000116528]
Predicted Effect possibly damaging
Transcript: ENSMUST00000027725
AA Change: T95S

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027725
Gene: ENSMUSG00000026455
AA Change: T95S

DomainStartEndE-ValueType
BTB 33 130 1.9e-30 SMART
BACK 135 237 5.39e-34 SMART
Kelch 282 329 1.9e-9 SMART
Kelch 330 379 3.18e-11 SMART
Kelch 380 426 1.85e-12 SMART
Kelch 427 473 3.11e-14 SMART
Kelch 474 520 1.74e-17 SMART
Kelch 521 567 4.71e-14 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112232
AA Change: T95S

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107851
Gene: ENSMUSG00000026455
AA Change: T95S

DomainStartEndE-ValueType
BTB 33 130 1.9e-30 SMART
BACK 135 237 5.39e-34 SMART
Kelch 282 329 1.9e-9 SMART
Kelch 330 379 3.18e-11 SMART
Kelch 380 426 1.85e-12 SMART
Kelch 427 493 3.39e-6 SMART
Kelch 494 540 4.71e-14 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000116528
AA Change: T95S

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112227
Gene: ENSMUSG00000026455
AA Change: T95S

DomainStartEndE-ValueType
BTB 33 130 1.9e-30 SMART
BACK 135 237 5.39e-34 SMART
Kelch 282 329 1.9e-9 SMART
Kelch 330 379 3.18e-11 SMART
Kelch 380 426 1.85e-12 SMART
Kelch 427 473 3.11e-14 SMART
Kelch 474 520 1.74e-17 SMART
Kelch 521 567 4.71e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133721
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189981
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the KLHL (Kelch-like) family of proteins. This protein has been identified as an autoantigen in the autoimmune disease Sjogren's syndrome and as a potential biomarker in primary biliary cirrhosis. This protein may act as a substrate adaptor of the Cullin-3 ubiquitin ligase complex to promote substrate-specific ubiquitylation. Ubiquitylation by this complex has been shown to regulate the Wnt signaling pathway as well as COPII vesicle coat size. A pseudogene has been identified on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik A G 3: 90,058,620 D141G probably damaging Het
Ankhd1 T G 18: 36,648,426 L2177R probably damaging Het
Arhgap23 A T 11: 97,491,219 D1136V probably damaging Het
Atp6v1b1 A G 6: 83,753,914 probably benign Het
Atxn1 T C 13: 45,568,225 T65A probably benign Het
Bbs4 A G 9: 59,336,355 probably benign Het
Bms1 G A 6: 118,404,585 T664M probably damaging Het
Bod1l T C 5: 41,816,339 D2544G probably benign Het
Cdhr2 C T 13: 54,719,763 H469Y probably benign Het
Cep57l1 T C 10: 41,740,961 D110G probably benign Het
Chd4 G A 6: 125,128,816 E1786K possibly damaging Het
Cltc T C 11: 86,730,219 K321E possibly damaging Het
Col6a2 T C 10: 76,610,173 D383G probably damaging Het
Crcp T G 5: 130,042,233 C58G probably benign Het
Ctc1 A G 11: 69,031,149 Y807C probably damaging Het
Eml4 T A 17: 83,477,703 probably benign Het
Glce A T 9: 62,060,577 L431I probably damaging Het
Glp1r C A 17: 30,924,611 T207K probably benign Het
Gm28042 G A 2: 120,034,634 V247I possibly damaging Het
Gm8989 G T 7: 106,329,420 F423L unknown Het
Hcrtr1 T A 4: 130,137,263 H76L probably benign Het
Hoxb13 G A 11: 96,194,609 G56D probably damaging Het
Hykk A G 9: 54,920,558 E27G possibly damaging Het
Kars A T 8: 112,000,104 L321* probably null Het
Klhl14 A T 18: 21,624,611 Y347* probably null Het
Kmt5b A G 19: 3,786,538 H25R possibly damaging Het
Krtap12-1 T A 10: 77,720,989 V122D probably damaging Het
Lrrc66 T C 5: 73,608,734 D322G possibly damaging Het
Lrrc8b T A 5: 105,481,054 V422D probably benign Het
Med12l T G 3: 59,244,947 M1051R probably damaging Het
Mmrn1 A G 6: 60,960,744 Y242C probably damaging Het
Ncf2 A T 1: 152,817,052 I107L possibly damaging Het
Olfr524 C T 7: 140,202,432 E113K probably damaging Het
Pdlim4 T C 11: 54,059,984 D93G probably benign Het
Pgap1 C A 1: 54,551,055 A75S probably damaging Het
Pkd1 A G 17: 24,586,004 D3209G possibly damaging Het
Prcp T C 7: 92,927,824 S319P probably benign Het
Rasal2 G A 1: 157,156,998 Q1035* probably null Het
Ryr3 A T 2: 112,663,263 probably benign Het
Scaf8 T C 17: 3,185,870 I544T probably damaging Het
Svep1 A T 4: 58,069,056 V2910E possibly damaging Het
Tln2 C T 9: 67,392,505 R155Q possibly damaging Het
Trpm7 A T 2: 126,813,184 L1278H probably damaging Het
Tti2 G T 8: 31,155,830 G391C probably damaging Het
Ttn C T 2: 76,948,019 M1295I possibly damaging Het
Ttn T C 2: 76,723,969 probably benign Het
Vmn1r170 G A 7: 23,606,913 V247M probably damaging Het
Wdr48 T C 9: 119,905,389 Y125H probably damaging Het
Wdtc1 C T 4: 133,308,914 R105H probably benign Het
Zc3h11a A G 1: 133,622,142 S699P probably benign Het
Zkscan14 C T 5: 145,195,609 V371I probably benign Het
Zzef1 A T 11: 72,888,299 Y1862F probably benign Het
Other mutations in Klhl12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Klhl12 APN 1 134483753 missense probably benign
IGL01834:Klhl12 APN 1 134489420 missense probably damaging 1.00
IGL01947:Klhl12 APN 1 134463951 missense probably damaging 1.00
IGL02550:Klhl12 APN 1 134467705 missense possibly damaging 0.94
R0403:Klhl12 UTSW 1 134485856 missense possibly damaging 0.82
R1508:Klhl12 UTSW 1 134488974 missense possibly damaging 0.58
R1801:Klhl12 UTSW 1 134489070 missense probably damaging 1.00
R4384:Klhl12 UTSW 1 134487654 missense probably damaging 1.00
R4569:Klhl12 UTSW 1 134485769 missense probably benign 0.23
R5302:Klhl12 UTSW 1 134489451 missense possibly damaging 0.63
R5503:Klhl12 UTSW 1 134485915 critical splice donor site probably null
R5877:Klhl12 UTSW 1 134483820 nonsense probably null
R6918:Klhl12 UTSW 1 134475846 missense possibly damaging 0.46
R7126:Klhl12 UTSW 1 134467783 missense probably damaging 0.97
R7688:Klhl12 UTSW 1 134489030 missense probably benign 0.01
R7897:Klhl12 UTSW 1 134458481 missense probably benign 0.00
R7898:Klhl12 UTSW 1 134458481 missense probably benign 0.00
R7980:Klhl12 UTSW 1 134458481 missense probably benign 0.00
R7981:Klhl12 UTSW 1 134458481 missense probably benign 0.00
Posted On2014-05-07