Incidental Mutation 'IGL01834:Klhl12'
ID 154901
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl12
Ensembl Gene ENSMUSG00000026455
Gene Name kelch-like 12
Synonyms C3ip1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01834
Quality Score
Status
Chromosome 1
Chromosomal Location 134383240-134418618 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 134417158 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8BZM0
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
Aox1 A G 1: 58,348,183 (GRCm39) I634V possibly damaging Het
Atp13a4 T G 16: 29,234,595 (GRCm39) probably benign Het
BC049715 A T 6: 136,817,489 (GRCm39) Q243L probably benign Het
C2cd6 G A 1: 59,036,604 (GRCm39) probably benign Het
Cd2ap C T 17: 43,137,251 (GRCm39) probably null Het
Cd2ap T A 17: 43,137,252 (GRCm39) probably null Het
Cd86 G A 16: 36,427,481 (GRCm39) R283W probably benign Het
CK137956 T A 4: 127,840,442 (GRCm39) K421N probably damaging Het
Coro2b G A 9: 62,338,639 (GRCm39) T193I possibly damaging Het
Dido1 G A 2: 180,325,824 (GRCm39) probably benign Het
Fas A G 19: 34,296,003 (GRCm39) T149A probably benign Het
Gbp4 T A 5: 105,273,468 (GRCm39) I121F probably damaging Het
Hes3 C T 4: 152,371,557 (GRCm39) A106T probably damaging Het
Hyal2 T C 9: 107,448,105 (GRCm39) Y253H probably damaging Het
Kcnt1 T C 2: 25,802,731 (GRCm39) probably null Het
Kmt2c T C 5: 25,600,453 (GRCm39) T315A probably benign Het
Mchr1 A G 15: 81,122,066 (GRCm39) Y272C probably damaging Het
Mroh7 T C 4: 106,538,071 (GRCm39) I1202V probably benign Het
Mrpl38 T A 11: 116,026,140 (GRCm39) K87* probably null Het
Msh6 A G 17: 88,293,140 (GRCm39) T632A probably damaging Het
Myo9b C A 8: 71,807,901 (GRCm39) H1630Q possibly damaging Het
Myo9b T C 8: 71,808,962 (GRCm39) I1767T probably damaging Het
Naprt A G 15: 75,765,648 (GRCm39) F92S probably damaging Het
Nsd3 T A 8: 26,130,668 (GRCm39) I11N probably damaging Het
Or5ae1 A G 7: 84,565,860 (GRCm39) Y291C probably damaging Het
Otof T C 5: 30,556,564 (GRCm39) T306A probably damaging Het
Pcdh18 A G 3: 49,711,279 (GRCm39) F12S probably benign Het
Pcdhb12 A T 18: 37,570,692 (GRCm39) N613Y probably damaging Het
Polr1a T C 6: 71,925,446 (GRCm39) I731T probably benign Het
Ptprd G A 4: 76,046,832 (GRCm39) T465I probably damaging Het
Rabgap1 A G 2: 37,454,773 (GRCm39) probably benign Het
Ryr2 T A 13: 11,610,311 (GRCm39) I607L possibly damaging Het
Slc39a9 G A 12: 80,720,073 (GRCm39) probably benign Het
Srek1 C A 13: 103,885,293 (GRCm39) probably benign Het
Ssb A G 2: 69,701,147 (GRCm39) T377A possibly damaging Het
Sympk G T 7: 18,777,360 (GRCm39) A537S probably benign Het
Tcf20 A G 15: 82,739,898 (GRCm39) S518P probably damaging Het
Ttc39d A G 17: 80,523,475 (GRCm39) K45E probably benign Het
Vmn1r40 T C 6: 89,691,554 (GRCm39) F124L possibly damaging Het
Vmn2r69 A G 7: 85,061,576 (GRCm39) Y133H probably damaging Het
Vmn2r79 A T 7: 86,686,354 (GRCm39) E578D probably benign Het
Vwf G A 6: 125,567,133 (GRCm39) probably benign Het
Zbtb11 A G 16: 55,811,371 (GRCm39) N510D probably benign Het
Other mutations in Klhl12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Klhl12 APN 1 134,411,491 (GRCm39) missense probably benign
IGL01947:Klhl12 APN 1 134,391,689 (GRCm39) missense probably damaging 1.00
IGL02005:Klhl12 APN 1 134,391,652 (GRCm39) missense possibly damaging 0.91
IGL02550:Klhl12 APN 1 134,395,443 (GRCm39) missense possibly damaging 0.94
R0403:Klhl12 UTSW 1 134,413,594 (GRCm39) missense possibly damaging 0.82
R1508:Klhl12 UTSW 1 134,416,712 (GRCm39) missense possibly damaging 0.58
R1801:Klhl12 UTSW 1 134,416,808 (GRCm39) missense probably damaging 1.00
R4384:Klhl12 UTSW 1 134,415,392 (GRCm39) missense probably damaging 1.00
R4569:Klhl12 UTSW 1 134,413,507 (GRCm39) missense probably benign 0.23
R5302:Klhl12 UTSW 1 134,417,189 (GRCm39) missense possibly damaging 0.63
R5503:Klhl12 UTSW 1 134,413,653 (GRCm39) critical splice donor site probably null
R5877:Klhl12 UTSW 1 134,411,558 (GRCm39) nonsense probably null
R6918:Klhl12 UTSW 1 134,403,584 (GRCm39) missense possibly damaging 0.46
R7126:Klhl12 UTSW 1 134,395,521 (GRCm39) missense probably damaging 0.97
R7688:Klhl12 UTSW 1 134,416,768 (GRCm39) missense probably benign 0.01
R7897:Klhl12 UTSW 1 134,386,219 (GRCm39) missense probably benign 0.00
R7898:Klhl12 UTSW 1 134,386,219 (GRCm39) missense probably benign 0.00
R7958:Klhl12 UTSW 1 134,395,455 (GRCm39) missense probably benign 0.02
R7989:Klhl12 UTSW 1 134,417,143 (GRCm39) missense probably benign
R8299:Klhl12 UTSW 1 134,416,678 (GRCm39) missense probably damaging 1.00
R8344:Klhl12 UTSW 1 134,413,460 (GRCm39) missense possibly damaging 0.95
R9546:Klhl12 UTSW 1 134,413,562 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04