Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02005:Klhl14'

183147

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 #

IGL02005

Quality Score

Status

Chromosome

Chromosomal Location

21683434-21787775 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 21757668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 347 (Y347*)

Ref Sequence

ENSEMBL: ENSMUSP00000113755 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049105] [ENSMUST00000122333]

AlphaFold

Q69ZK5

Predicted Effect

probably null
Transcript: ENSMUST00000049105
AA Change: Y347*

SMART Domains

Protein: ENSMUSP00000042015
Gene: ENSMUSG00000042514
AA Change: Y347*

Domain	Start	End	E-Value	Type
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 null
Transcript: ENSMUST00000122333
AA Change: Y347*

SMART Domains

Protein: ENSMUSP00000113755
Gene: ENSMUSG00000042514
AA Change: Y347*

Domain	Start	End	E-Value	Type
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

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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
Klhl12	A	T	1: 134,391,652 (GRCm39)	T95S	possibly damaging	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 Klhl14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2014-05-07