Incidental Mutation 'IGL02005:Klhl12'
ID 183138
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 # IGL02005
Quality Score
Status
Chromosome 1
Chromosomal Location 134383240-134418618 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 134391652 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8BZM0
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: 89,965,927 (GRCm39) D141G probably damaging Het
Ankhd1 T G 18: 36,781,479 (GRCm39) L2177R probably damaging Het
Arhgap23 A T 11: 97,382,045 (GRCm39) D1136V probably damaging Het
Atp6v1b1 A G 6: 83,730,896 (GRCm39) probably benign Het
Atxn1 T C 13: 45,721,701 (GRCm39) T65A probably benign Het
Bbs4 A G 9: 59,243,638 (GRCm39) probably benign Het
Bms1 G A 6: 118,381,546 (GRCm39) T664M probably damaging Het
Bod1l T C 5: 41,973,682 (GRCm39) D2544G probably benign Het
Cdhr2 C T 13: 54,867,576 (GRCm39) H469Y probably benign Het
Cep57l1 T C 10: 41,616,957 (GRCm39) D110G probably benign Het
Chd4 G A 6: 125,105,779 (GRCm39) E1786K possibly damaging Het
Cltc T C 11: 86,621,045 (GRCm39) K321E possibly damaging Het
Col6a2 T C 10: 76,446,007 (GRCm39) D383G probably damaging Het
Crcp T G 5: 130,071,074 (GRCm39) C58G probably benign Het
Ctc1 A G 11: 68,921,975 (GRCm39) Y807C probably damaging Het
Eml4 T A 17: 83,785,132 (GRCm39) probably benign Het
Glce A T 9: 61,967,859 (GRCm39) L431I probably damaging Het
Glp1r C A 17: 31,143,585 (GRCm39) T207K probably benign Het
Gm28042 G A 2: 119,865,115 (GRCm39) V247I possibly damaging Het
Gvin-ps5 G T 7: 105,928,627 (GRCm39) F423L unknown Het
Hcrtr1 T A 4: 130,031,056 (GRCm39) H76L probably benign Het
Hoxb13 G A 11: 96,085,435 (GRCm39) G56D probably damaging Het
Hykk A G 9: 54,827,842 (GRCm39) E27G possibly damaging Het
Kars1 A T 8: 112,726,736 (GRCm39) L321* probably null Het
Klhl14 A T 18: 21,757,668 (GRCm39) Y347* probably null Het
Kmt5b A G 19: 3,836,538 (GRCm39) H25R possibly damaging Het
Krtap12-1 T A 10: 77,556,823 (GRCm39) V122D probably damaging Het
Lrrc66 T C 5: 73,766,077 (GRCm39) D322G possibly damaging Het
Lrrc8b T A 5: 105,628,920 (GRCm39) V422D probably benign Het
Med12l T G 3: 59,152,368 (GRCm39) M1051R probably damaging Het
Mmrn1 A G 6: 60,937,728 (GRCm39) Y242C probably damaging Het
Ncf2 A T 1: 152,692,803 (GRCm39) I107L possibly damaging Het
Or6b13 C T 7: 139,782,345 (GRCm39) E113K probably damaging Het
Pdlim4 T C 11: 53,950,810 (GRCm39) D93G probably benign Het
Pgap1 C A 1: 54,590,214 (GRCm39) A75S probably damaging Het
Pkd1 A G 17: 24,804,978 (GRCm39) D3209G possibly damaging Het
Prcp T C 7: 92,577,032 (GRCm39) S319P probably benign Het
Rasal2 G A 1: 156,984,568 (GRCm39) Q1035* probably null Het
Ryr3 A T 2: 112,493,608 (GRCm39) probably benign Het
Scaf8 T C 17: 3,236,145 (GRCm39) I544T probably damaging Het
Svep1 A T 4: 58,069,056 (GRCm39) V2910E possibly damaging Het
Tln2 C T 9: 67,299,787 (GRCm39) R155Q possibly damaging Het
Trpm7 A T 2: 126,655,104 (GRCm39) L1278H probably damaging Het
Tti2 G T 8: 31,645,858 (GRCm39) G391C probably damaging Het
Ttn C T 2: 76,778,363 (GRCm39) M1295I possibly damaging Het
Ttn T C 2: 76,554,313 (GRCm39) probably benign Het
Vmn1r170 G A 7: 23,306,338 (GRCm39) V247M probably damaging Het
Wdr48 T C 9: 119,734,455 (GRCm39) Y125H probably damaging Het
Wdtc1 C T 4: 133,036,225 (GRCm39) R105H probably benign Het
Zc3h11a A G 1: 133,549,880 (GRCm39) S699P probably benign Het
Zkscan14 C T 5: 145,132,419 (GRCm39) V371I probably benign Het
Zzef1 A T 11: 72,779,125 (GRCm39) Y1862F probably benign Het
Other mutations in Klhl12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Klhl12 APN 1 134,411,491 (GRCm39) missense probably benign
IGL01834:Klhl12 APN 1 134,417,158 (GRCm39) missense probably damaging 1.00
IGL01947:Klhl12 APN 1 134,391,689 (GRCm39) missense probably damaging 1.00
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 2014-05-07