Incidental Mutation 'IGL00340:Klhl14'
ID 3378
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl14
Ensembl Gene ENSMUSG00000042514
Gene Name kelch-like 14
Synonyms printor, 6330403N15Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.655) question?
Stock # IGL00340
Quality Score
Status
Chromosome 18
Chromosomal Location 21683434-21787775 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 21784921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 169 (P169S)
Ref Sequence ENSEMBL: ENSMUSP00000113755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049105] [ENSMUST00000122333]
AlphaFold Q69ZK5
Predicted Effect probably benign
Transcript: ENSMUST00000049105
AA Change: P169S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000042015
Gene: ENSMUSG00000042514
AA Change: P169S

DomainStartEndE-ValueType
BTB 33 183 6.57e-25 SMART
BACK 191 281 2.61e-9 SMART
Kelch 325 374 1.63e-1 SMART
Kelch 375 426 3.66e-2 SMART
Kelch 427 473 5.05e-14 SMART
Kelch 474 520 1.79e-5 SMART
Kelch 521 572 3.06e-4 SMART
Kelch 573 622 5.29e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122333
AA Change: P169S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000113755
Gene: ENSMUSG00000042514
AA Change: P169S

DomainStartEndE-ValueType
BTB 33 183 6.57e-25 SMART
BACK 191 281 2.61e-9 SMART
Kelch 325 374 1.63e-1 SMART
Kelch 375 426 3.66e-2 SMART
Kelch 427 473 5.05e-14 SMART
Kelch 474 520 1.79e-5 SMART
Kelch 521 572 3.06e-4 SMART
Kelch 573 622 5.29e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132729
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139804
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143378
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144487
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Kelch-like gene family, whose members contain a BTB/POZ domain, a BACK domain, and several Kelch domains. The encoded protein possesses six Kelch domains and localizes to the endoplasmic reticulum, where it interacts with torsin-1A. [provided by RefSeq, Sep 2015]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 G A 5: 89,849,525 (GRCm39) H632Y probably damaging Het
Adgre5 T A 8: 84,455,030 (GRCm39) M221L probably benign Het
Apba2 A T 7: 64,386,689 (GRCm39) I439F possibly damaging Het
Arid1b C A 17: 5,371,559 (GRCm39) N632K probably damaging Het
Bcas3 A T 11: 85,256,417 (GRCm39) I60L probably damaging Het
Brd9 T C 13: 74,086,666 (GRCm39) S56P probably damaging Het
Ccdc57 T A 11: 120,751,295 (GRCm39) D925V possibly damaging Het
Ccna1 A G 3: 54,958,076 (GRCm39) V143A probably damaging Het
Cdhr3 T C 12: 33,102,208 (GRCm39) T410A probably benign Het
Cimap3 A G 3: 105,921,824 (GRCm39) V33A probably benign Het
Ddx60 G T 8: 62,411,680 (GRCm39) D511Y probably damaging Het
Drc7 C A 8: 95,782,629 (GRCm39) probably benign Het
Dysf A G 6: 84,118,933 (GRCm39) E1290G probably benign Het
Fam168b T C 1: 34,875,883 (GRCm39) M1V probably null Het
Farsa A G 8: 85,590,886 (GRCm39) K208R probably damaging Het
Fnip2 A G 3: 79,425,368 (GRCm39) probably benign Het
Gm17535 A T 9: 3,035,111 (GRCm39) H170L probably benign Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Gm5852 T C 3: 93,634,501 (GRCm39) noncoding transcript Het
Gnb2 T C 5: 137,528,968 (GRCm39) probably benign Het
Gpr158 A G 2: 21,373,494 (GRCm39) N143S probably damaging Het
Hcn1 C A 13: 117,739,513 (GRCm39) Q92K unknown Het
Helb T C 10: 119,934,150 (GRCm39) I678V possibly damaging Het
Hnrnpl C A 7: 28,512,798 (GRCm39) A118D probably damaging Het
Kndc1 T C 7: 139,481,904 (GRCm39) probably benign Het
Lmod2 A G 6: 24,598,051 (GRCm39) E57G probably damaging Het
Lrch4 T C 5: 137,636,009 (GRCm39) I300T possibly damaging Het
Lrp6 A G 6: 134,433,053 (GRCm39) V1426A probably benign Het
Lrrc39 A G 3: 116,364,630 (GRCm39) probably benign Het
Mamstr G A 7: 45,293,709 (GRCm39) V262I probably benign Het
Mob1b A T 5: 88,904,014 (GRCm39) T217S probably benign Het
Mocs3 G A 2: 168,073,411 (GRCm39) R286H possibly damaging Het
Mpo A T 11: 87,693,443 (GRCm39) Q27L probably benign Het
Ncdn A T 4: 126,640,981 (GRCm39) D506E probably benign Het
Noxa1 A G 2: 24,984,914 (GRCm39) I8T probably benign Het
Oma1 G T 4: 103,176,565 (GRCm39) A110S probably benign Het
Or10a48 C T 7: 108,424,280 (GRCm39) V309I probably benign Het
Or13a18 T A 7: 140,190,666 (GRCm39) S196T probably damaging Het
Or8b4 A G 9: 37,830,346 (GRCm39) Y131C probably damaging Het
Pde4a A C 9: 21,122,357 (GRCm39) K694T probably benign Het
Phc1 A G 6: 122,299,958 (GRCm39) probably benign Het
Pias1 A G 9: 62,830,578 (GRCm39) V187A probably damaging Het
Pigf C A 17: 87,327,876 (GRCm39) L130F probably null Het
Pkd1 G T 17: 24,799,069 (GRCm39) V2763L probably damaging Het
Potefam1 G T 2: 111,051,107 (GRCm39) L230I probably damaging Het
Ppp1r8 T C 4: 132,561,992 (GRCm39) Y76C probably damaging Het
Ppp6r3 C A 19: 3,568,324 (GRCm39) G158V probably damaging Het
Ptpn13 A G 5: 103,698,924 (GRCm39) I1136V probably damaging Het
Ptprq T C 10: 107,412,790 (GRCm39) I1770V probably damaging Het
Rhpn2 A T 7: 35,070,185 (GRCm39) I148F probably damaging Het
Stard3 T C 11: 98,268,285 (GRCm39) Y239H probably damaging Het
Stau1 T C 2: 166,792,729 (GRCm39) Y412C probably benign Het
Sucnr1 A G 3: 59,994,053 (GRCm39) I194V probably benign Het
Tanc1 A G 2: 59,621,185 (GRCm39) T335A possibly damaging Het
Tmem126a T C 7: 90,101,963 (GRCm39) T79A probably benign Het
Trav9-2 A T 14: 53,828,840 (GRCm39) Y70F probably benign Het
Tspear A G 10: 77,709,070 (GRCm39) E432G probably benign Het
Ube2o T C 11: 116,435,580 (GRCm39) R403G probably benign Het
Unc80 C A 1: 66,645,618 (GRCm39) S1431R possibly damaging Het
Usp24 G A 4: 106,258,336 (GRCm39) C1578Y probably damaging Het
Vsig10 A T 5: 117,489,652 (GRCm39) M473L probably benign Het
Xpot T A 10: 121,441,549 (GRCm39) M559L probably benign Het
Other mutations in Klhl14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01474:Klhl14 APN 18 21,690,911 (GRCm39) missense probably damaging 0.99
IGL02005:Klhl14 APN 18 21,757,668 (GRCm39) nonsense probably null
IGL02108:Klhl14 APN 18 21,690,977 (GRCm39) missense probably damaging 0.98
IGL02371:Klhl14 APN 18 21,785,238 (GRCm39) missense probably damaging 1.00
IGL03354:Klhl14 APN 18 21,784,785 (GRCm39) missense probably damaging 1.00
P0027:Klhl14 UTSW 18 21,691,192 (GRCm39) missense probably damaging 1.00
PIT4810001:Klhl14 UTSW 18 21,690,880 (GRCm39) nonsense probably null
R0288:Klhl14 UTSW 18 21,698,620 (GRCm39) missense probably damaging 1.00
R1419:Klhl14 UTSW 18 21,785,250 (GRCm39) missense probably damaging 0.99
R1606:Klhl14 UTSW 18 21,698,589 (GRCm39) missense possibly damaging 0.94
R1771:Klhl14 UTSW 18 21,784,677 (GRCm39) missense probably damaging 0.97
R1928:Klhl14 UTSW 18 21,784,843 (GRCm39) missense probably damaging 1.00
R1966:Klhl14 UTSW 18 21,687,730 (GRCm39) missense probably damaging 1.00
R3624:Klhl14 UTSW 18 21,690,953 (GRCm39) missense probably damaging 1.00
R4541:Klhl14 UTSW 18 21,687,696 (GRCm39) nonsense probably null
R4664:Klhl14 UTSW 18 21,687,765 (GRCm39) missense probably benign 0.06
R4856:Klhl14 UTSW 18 21,691,029 (GRCm39) splice site probably null
R4886:Klhl14 UTSW 18 21,691,029 (GRCm39) splice site probably null
R4893:Klhl14 UTSW 18 21,690,992 (GRCm39) missense probably damaging 1.00
R5393:Klhl14 UTSW 18 21,785,051 (GRCm39) missense probably benign 0.30
R5757:Klhl14 UTSW 18 21,687,791 (GRCm39) missense probably damaging 1.00
R5951:Klhl14 UTSW 18 21,784,677 (GRCm39) missense probably damaging 0.97
R5958:Klhl14 UTSW 18 21,698,592 (GRCm39) missense probably damaging 0.99
R7231:Klhl14 UTSW 18 21,785,193 (GRCm39) missense probably damaging 0.99
R7519:Klhl14 UTSW 18 21,784,900 (GRCm39) missense probably benign 0.36
R7527:Klhl14 UTSW 18 21,784,597 (GRCm39) missense probably damaging 0.99
R7573:Klhl14 UTSW 18 21,785,211 (GRCm39) missense probably benign 0.00
R7664:Klhl14 UTSW 18 21,687,706 (GRCm39) missense probably damaging 1.00
R7737:Klhl14 UTSW 18 21,691,191 (GRCm39) nonsense probably null
R8079:Klhl14 UTSW 18 21,785,022 (GRCm39) missense probably benign 0.39
R8889:Klhl14 UTSW 18 21,691,220 (GRCm39) missense possibly damaging 0.56
R8892:Klhl14 UTSW 18 21,691,220 (GRCm39) missense possibly damaging 0.56
T0722:Klhl14 UTSW 18 21,691,192 (GRCm39) missense probably damaging 1.00
X0026:Klhl14 UTSW 18 21,784,998 (GRCm39) missense possibly damaging 0.94
Z1177:Klhl14 UTSW 18 21,785,161 (GRCm39) missense probably benign 0.00
Posted On 2012-04-20