Incidental Mutation 'IGL01834:Klhl12'
ID154901
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 #IGL01834
Quality Score
Status
Chromosome1
Chromosomal Location134455531-134491018 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 134489420 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 557 (R557S)
Ref Sequence ENSEMBL: ENSMUSP00000112227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027725] [ENSMUST00000112232] [ENSMUST00000116528]
Predicted Effect probably damaging
Transcript: ENSMUST00000027725
AA Change: R557S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027725
Gene: ENSMUSG00000026455
AA Change: R557S

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 probably damaging
Transcript: ENSMUST00000112232
AA Change: R530S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107851
Gene: ENSMUSG00000026455
AA Change: R530S

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 probably damaging
Transcript: ENSMUST00000116528
AA Change: R557S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112227
Gene: ENSMUSG00000026455
AA Change: R557S

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: ENSMUST00000141458
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox2 A G 1: 58,309,024 I634V possibly damaging Het
Atp13a4 T G 16: 29,415,777 probably benign Het
BC049715 A T 6: 136,840,491 Q243L probably benign Het
C2cd6 G A 1: 58,997,445 probably benign Het
Cd2ap C T 17: 42,826,360 probably null Het
Cd2ap T A 17: 42,826,361 probably null Het
Cd86 G A 16: 36,607,119 R283W probably benign Het
CK137956 T A 4: 127,946,649 K421N probably damaging Het
Coro2b G A 9: 62,431,357 T193I possibly damaging Het
Dido1 G A 2: 180,684,031 probably benign Het
Fas A G 19: 34,318,603 T149A probably benign Het
Gbp4 T A 5: 105,125,602 I121F probably damaging Het
Hes3 C T 4: 152,287,100 A106T probably damaging Het
Hyal2 T C 9: 107,570,906 Y253H probably damaging Het
Kcnt1 T C 2: 25,912,719 probably null Het
Kmt2c T C 5: 25,395,455 T315A probably benign Het
Mchr1 A G 15: 81,237,865 Y272C probably damaging Het
Mroh7 T C 4: 106,680,874 I1202V probably benign Het
Mrpl38 T A 11: 116,135,314 K87* probably null Het
Msh6 A G 17: 87,985,712 T632A probably damaging Het
Myo9b T C 8: 71,356,318 I1767T probably damaging Het
Myo9b C A 8: 71,355,257 H1630Q possibly damaging Het
Naprt A G 15: 75,893,799 F92S probably damaging Het
Nsd3 T A 8: 25,640,652 I11N probably damaging Het
Olfr290 A G 7: 84,916,652 Y291C probably damaging Het
Otof T C 5: 30,399,220 T306A probably damaging Het
Pcdh18 A G 3: 49,756,830 F12S probably benign Het
Pcdhb12 A T 18: 37,437,639 N613Y probably damaging Het
Polr1a T C 6: 71,948,462 I731T probably benign Het
Ptprd G A 4: 76,128,595 T465I probably damaging Het
Rabgap1 A G 2: 37,564,761 probably benign Het
Ryr2 T A 13: 11,595,425 I607L possibly damaging Het
Slc39a9 G A 12: 80,673,299 probably benign Het
Srek1 C A 13: 103,748,785 probably benign Het
Ssb A G 2: 69,870,803 T377A possibly damaging Het
Sympk G T 7: 19,043,435 A537S probably benign Het
Tcf20 A G 15: 82,855,697 S518P probably damaging Het
Ttc39d A G 17: 80,216,046 K45E probably benign Het
Vmn1r40 T C 6: 89,714,572 F124L possibly damaging Het
Vmn2r69 A G 7: 85,412,368 Y133H probably damaging Het
Vmn2r79 A T 7: 87,037,146 E578D probably benign Het
Vwf G A 6: 125,590,170 probably benign Het
Zbtb11 A G 16: 55,991,008 N510D probably benign Het
Other mutations in Klhl12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Klhl12 APN 1 134483753 missense probably benign
IGL01947:Klhl12 APN 1 134463951 missense probably damaging 1.00
IGL02005:Klhl12 APN 1 134463914 missense possibly damaging 0.91
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 On2014-02-04