Mutagenetix > Incidental Mutation

Incidental Mutation 'R8079:Klhl14'

629247

Institutional Source

Beutler Lab

Gene Symbol

Klhl14

Ensembl Gene

ENSMUSG00000042514

Gene Name

kelch-like 14

Synonyms

printor, 6330403N15Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.714) question?

Stock #

R8079 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21683434-21787775 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21785022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 135 (I135T)

Ref Sequence

ENSEMBL: ENSMUSP00000042015 (fasta)

Gene Model

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

AlphaFold

Q69ZK5

Predicted Effect

probably benign
Transcript: ENSMUST00000049105
AA Change: I135T

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000042015
Gene: ENSMUSG00000042514
AA Change: I135T

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 benign
Transcript: ENSMUST00000122333
AA Change: I135T

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113755
Gene: ENSMUSG00000042514
AA Change: I135T

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

1x: 99.9%
3x: 99.7%
10x: 99.0%
20x: 96.5%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	A	G	5: 124,221,186 (GRCm39)	I255T	possibly damaging	Het
Ablim1	A	T	19: 57,170,656 (GRCm39)		probably null	Het
Akap10	G	A	11: 61,820,880 (GRCm39)	P8L	possibly damaging	Het
Ankle2	C	T	5: 110,379,182 (GRCm39)	A27V	probably damaging	Het
Anxa8	A	G	14: 33,816,769 (GRCm39)	T246A	probably benign	Het
Arhgap5	A	G	12: 52,613,988 (GRCm39)	N1460S	probably benign	Het
Arid5b	T	G	10: 67,934,186 (GRCm39)	D572A	possibly damaging	Het
Atrn	T	A	2: 130,855,561 (GRCm39)	L1278Q	probably null	Het
AU040320	G	T	4: 126,725,953 (GRCm39)	K454N	possibly damaging	Het
Baz2b	T	A	2: 59,731,112 (GRCm39)	R2085W	probably damaging	Het
Bbx	A	T	16: 50,030,821 (GRCm39)	N649K	probably damaging	Het
BC034090	G	A	1: 155,101,032 (GRCm39)	P411S	probably damaging	Het
Calcoco2	A	T	11: 95,998,363 (GRCm39)	F20Y	probably damaging	Het
Carmil2	A	G	8: 106,413,393 (GRCm39)	R50G	probably damaging	Het
Catspere2	A	G	1: 177,874,525 (GRCm39)	T131A	probably benign	Het
Cdcp1	C	A	9: 123,002,855 (GRCm39)	V739L	probably damaging	Het
Chit1	A	G	1: 134,071,765 (GRCm39)	T92A	possibly damaging	Het
Clstn3	A	G	6: 124,436,763 (GRCm39)	I185T	probably damaging	Het
Dctpp1	C	A	7: 126,858,561 (GRCm39)	V61L	probably damaging	Het
Dip2a	T	C	10: 76,123,155 (GRCm39)	T760A	probably benign	Het
Dock10	C	T	1: 80,556,421 (GRCm39)	V552I	probably benign	Het
Dpp8	A	G	9: 64,951,017 (GRCm39)	E151G	probably damaging	Het
Dvl2	G	C	11: 69,898,344 (GRCm39)	R367P	possibly damaging	Het
Fem1b	A	T	9: 62,703,643 (GRCm39)	I539N	probably damaging	Het
Frat2	A	T	19: 41,836,277 (GRCm39)	L25H	probably damaging	Het
Garnl3	A	T	2: 32,908,511 (GRCm39)		probably null	Het
Gh	T	C	11: 106,192,253 (GRCm39)	H47R	possibly damaging	Het
Glmp	T	C	3: 88,233,045 (GRCm39)	V61A	probably damaging	Het
Gm9925	T	C	18: 74,198,558 (GRCm39)	V129A	unknown	Het
H2-M9	T	A	17: 36,953,025 (GRCm39)	E94V	probably benign	Het
Hira	A	T	16: 18,744,507 (GRCm39)	Q408L	probably benign	Het
Hook3	A	G	8: 26,578,086 (GRCm39)		probably null	Het
Ifi206	G	A	1: 173,308,724 (GRCm39)	P424L		Het
Impdh2	T	C	9: 108,440,524 (GRCm39)	V270A	probably benign	Het
Klra10	C	A	6: 130,252,738 (GRCm39)	V179L	probably benign	Het
Kmt2c	T	C	5: 25,507,730 (GRCm39)	S3236G	probably damaging	Het
Krt76	G	T	15: 101,796,825 (GRCm39)	A358D	possibly damaging	Het
Lacc1	C	A	14: 77,266,992 (GRCm39)	G424C	probably damaging	Het
Limch1	A	G	5: 67,204,096 (GRCm39)	I878V	possibly damaging	Het
Lipi	C	T	16: 75,362,418 (GRCm39)		probably null	Het
Lrrc17	C	T	5: 21,766,069 (GRCm39)	R184W	probably damaging	Het
Mllt10	A	G	2: 18,128,567 (GRCm39)	N183D	probably damaging	Het
Mterf2	C	T	10: 84,956,027 (GRCm39)	G199D	probably damaging	Het
Mucl3	T	C	17: 35,949,084 (GRCm39)	T172A	unknown	Het
Nat8f4	A	T	6: 85,877,976 (GRCm39)	S182R	probably benign	Het
Ndrg3	C	A	2: 156,779,452 (GRCm39)	E238*	probably null	Het
Nop14	A	T	5: 34,811,805 (GRCm39)	L194H	probably damaging	Het
Obscn	T	C	11: 58,972,731 (GRCm39)	E2105G	possibly damaging	Het
Or5b104	A	C	19: 13,072,648 (GRCm39)	Y121*	probably null	Het
Or5g9	A	T	2: 85,552,387 (GRCm39)	T213S	probably benign	Het
Or7g17	A	T	9: 18,768,725 (GRCm39)	Y259F	possibly damaging	Het
Or8k32	T	A	2: 86,368,725 (GRCm39)	H176L	possibly damaging	Het
Pbx3	C	T	2: 34,068,240 (GRCm39)	A320T	probably benign	Het
Pcdhac2	A	T	18: 37,279,197 (GRCm39)	S726C	probably damaging	Het
Pcdhgb2	A	G	18: 37,823,816 (GRCm39)	D269G	probably damaging	Het
Pcgf6	A	T	19: 47,034,271 (GRCm39)	S257T	probably damaging	Het
Pclo	A	T	5: 14,590,472 (GRCm39)	H924L	unknown	Het
Per3	T	A	4: 151,127,135 (GRCm39)	T129S	possibly damaging	Het
Pi4ka	A	T	16: 17,120,924 (GRCm39)	M1270K		Het
Plec	G	A	15: 76,063,750 (GRCm39)	Q2277*	probably null	Het
Pnma1	T	A	12: 84,194,109 (GRCm39)	K198M	probably damaging	Het
Prc1	T	A	7: 79,954,515 (GRCm39)	F196L	possibly damaging	Het
Prkcz	T	C	4: 155,441,962 (GRCm39)	T57A	probably damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Robo4	A	G	9: 37,313,931 (GRCm39)	M61V	possibly damaging	Het
Rps12	C	T	10: 23,661,575 (GRCm39)	V79I	probably benign	Het
Rsph3a	A	G	17: 8,198,020 (GRCm39)	K466E	probably benign	Het
Scly	A	T	1: 91,236,089 (GRCm39)	I168F	probably damaging	Het
Setd1a	T	A	7: 127,384,225 (GRCm39)	F359I	unknown	Het
Sh3tc1	A	G	5: 35,864,201 (GRCm39)	L662P	possibly damaging	Het
Slc12a5	T	C	2: 164,834,372 (GRCm39)	W798R	probably damaging	Het
Slc16a6	C	T	11: 109,364,281 (GRCm39)	R13Q	unknown	Het
Slco1a8	T	G	6: 141,933,460 (GRCm39)	M462L	probably benign	Het
Smarcad1	A	G	6: 65,029,766 (GRCm39)	D118G	possibly damaging	Het
Sos2	T	C	12: 69,653,989 (GRCm39)	T788A	probably damaging	Het
Syvn1	A	G	19: 6,098,396 (GRCm39)	E75G	probably null	Het
Thpo	T	C	16: 20,545,144 (GRCm39)	E103G	probably benign	Het
Trav7d-3	A	T	14: 52,982,193 (GRCm39)	E78V	possibly damaging	Het
Uap1	A	G	1: 169,986,332 (GRCm39)	S217P	probably damaging	Het
Unc45a	T	G	7: 79,981,310 (GRCm39)	R497S	probably damaging	Het
Upf1	A	G	8: 70,791,534 (GRCm39)		probably null	Het
Usp47	A	T	7: 111,646,177 (GRCm39)	K28M	probably damaging	Het
Wdr72	A	C	9: 74,126,054 (GRCm39)	T1062P	probably damaging	Het
Wnt7b	A	T	15: 85,421,646 (GRCm39)	C339S	probably damaging	Het
Zfp954	G	T	7: 7,118,470 (GRCm39)	T358K	probably benign	Het
Zmynd15	G	T	11: 70,350,278 (GRCm39)		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
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
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

Predicted Primers

PCR Primer
(F):5'- CTGCTTGTAGTTCTGCACCG -3'
(R):5'- CGCAGTACTTCCGATCACTC -3'

Sequencing Primer
(F):5'- AGTTCTGCACCGAGATCTGGTC -3'
(R):5'- AGTACTTCCGATCACTCTTCTCCAG -3'

Posted On

2020-06-30