Incidental Mutation 'P0027:Klhl14'
ID 7949
Institutional Source Beutler Lab
Gene Symbol Klhl14
Ensembl Gene ENSMUSG00000042514
Gene Name kelch-like 14
Synonyms printor, 6330403N15Rik
MMRRC Submission 038280-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.655) question?
Stock # P0027 (G1)
Quality Score
Status Validated
Chromosome 18
Chromosomal Location 21683434-21787775 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21691192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 446 (Y446C)
Ref Sequence ENSEMBL: ENSMUSP00000113755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049105] [ENSMUST00000122333]
AlphaFold Q69ZK5
Predicted Effect probably damaging
Transcript: ENSMUST00000049105
AA Change: Y446C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042015
Gene: ENSMUSG00000042514
AA Change: Y446C

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 damaging
Transcript: ENSMUST00000122333
AA Change: Y446C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113755
Gene: ENSMUSG00000042514
AA Change: Y446C

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
Meta Mutation Damage Score 0.9685 question?
Coding Region Coverage
  • 1x: 82.6%
  • 3x: 72.9%
  • 10x: 45.3%
  • 20x: 23.4%
Validation Efficiency 93% (53/57)
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bicd2 C A 13: 49,533,127 (GRCm39) P571Q probably benign Het
Camta2 A G 11: 70,574,831 (GRCm39) I75T probably damaging Het
Casp1 A T 9: 5,299,851 (GRCm39) H108L probably benign Het
Copa A G 1: 171,939,515 (GRCm39) E593G possibly damaging Het
Ftsj3 C A 11: 106,145,634 (GRCm39) M66I possibly damaging Het
Kdm2a C T 19: 4,393,273 (GRCm39) probably benign Het
Lims1 A G 10: 58,254,277 (GRCm39) N344D probably benign Het
Marco A T 1: 120,402,441 (GRCm39) W502R probably damaging Het
Ms4a10 T C 19: 10,941,492 (GRCm39) D159G probably damaging Het
Msi2 A T 11: 88,285,423 (GRCm39) M207K probably damaging Het
Myh15 C T 16: 48,901,571 (GRCm39) T249I possibly damaging Het
Nap1l5 T A 6: 58,883,810 (GRCm39) N48I probably damaging Het
Nup188 A G 2: 30,212,693 (GRCm39) D632G probably damaging Het
Or1n2 T C 2: 36,797,582 (GRCm39) V208A probably benign Het
Phactr4 G C 4: 132,098,401 (GRCm39) T252R probably damaging Het
Sec14l2 C T 11: 4,053,673 (GRCm39) probably null Het
Sim2 C A 16: 93,910,281 (GRCm39) H228N probably benign Het
Tent4a G A 13: 69,655,074 (GRCm39) R224* probably null Het
Tmem26 A G 10: 68,614,548 (GRCm39) E321G probably benign Het
Yif1b T C 7: 28,938,038 (GRCm39) probably null Het
Other mutations in Klhl14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Klhl14 APN 18 21,784,921 (GRCm39) missense probably benign 0.00
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
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 2012-11-20