Mutagenetix > Incidental Mutation

Incidental Mutation 'R8889:Klhl14'

677596

Institutional Source

Beutler Lab

Gene Symbol

Klhl14

Ensembl Gene

ENSMUSG00000042514

Gene Name

kelch-like 14

Synonyms

printor, 6330403N15Rik

MMRRC Submission

068693-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.655) question?

Stock #

R8889 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21683434-21787775 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 21691220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 437 (T437P)

Ref Sequence

ENSEMBL: ENSMUSP00000042015 (fasta)

Gene Model

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

AlphaFold

Q69ZK5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049105
AA Change: T437P

PolyPhen 2 Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000042015
Gene: ENSMUSG00000042514
AA Change: T437P

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

possibly damaging
Transcript: ENSMUST00000122333
AA Change: T437P

PolyPhen 2 Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113755
Gene: ENSMUSG00000042514
AA Change: T437P

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

Meta Mutation Damage Score

0.0949

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (78/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 119,815,606 (GRCm39)	L285I	probably damaging	Het
Abcc2	T	G	19: 43,795,571 (GRCm39)	S442R	possibly damaging	Het
Adgrl3	A	T	5: 81,874,516 (GRCm39)	I938F	probably damaging	Het
Ank1	T	C	8: 23,606,990 (GRCm39)	L1297P	probably damaging	Het
Ap3b1	G	A	13: 94,679,348 (GRCm39)	V997M	unknown	Het
Ash2l	T	C	8: 26,313,247 (GRCm39)	K413R	probably benign	Het
Cacnb1	A	T	11: 97,901,192 (GRCm39)	V220E	probably damaging	Het
Cacul1	A	T	19: 60,568,960 (GRCm39)	L66Q	probably damaging	Het
Camkv	C	T	9: 107,823,333 (GRCm39)	R120*	probably null	Het
Ccny	T	G	18: 9,345,235 (GRCm39)	S180R	probably damaging	Het
Cdh23	G	T	10: 60,143,284 (GRCm39)	H3012Q	probably damaging	Het
Clasp2	T	A	9: 113,709,251 (GRCm39)	L680Q	probably damaging	Het
Clip1	A	T	5: 123,717,565 (GRCm39)	S1241R	probably benign	Het
Cthrc1	T	A	15: 38,940,445 (GRCm39)	L16H	probably damaging	Het
Ctnna1	G	A	18: 35,372,586 (GRCm39)	V514I	possibly damaging	Het
Ddr1	A	C	17: 35,993,556 (GRCm39)	I852S	probably benign	Het
Echs1	A	C	7: 139,688,031 (GRCm39)	L258R	probably damaging	Het
Epha8	G	T	4: 136,661,850 (GRCm39)	H582N	probably benign	Het
Exph5	G	T	9: 53,287,955 (GRCm39)	G1679W	probably damaging	Het
Fhod3	G	A	18: 25,189,452 (GRCm39)		probably null	Het
Gm10803	G	A	2: 93,394,281 (GRCm39)	D18N	unknown	Het
Gpr152	T	A	19: 4,192,723 (GRCm39)	I88N	probably damaging	Het
Gpr179	T	C	11: 97,226,590 (GRCm39)	D1855G	possibly damaging	Het
H2al2a	T	A	2: 18,001,599 (GRCm39)	D29V	probably damaging	Het
Hnrnpf	T	G	6: 117,901,753 (GRCm39)	S346A	probably benign	Het
Hsd11b2	C	T	8: 106,249,263 (GRCm39)	R213C	probably damaging	Het
Il17rd	A	G	14: 26,821,930 (GRCm39)	D552G	possibly damaging	Het
Ipo9	T	C	1: 135,314,544 (GRCm39)	N904S	possibly damaging	Het
Krt5	T	C	15: 101,619,185 (GRCm39)	M268V	probably benign	Het
Lhx4	T	C	1: 155,581,013 (GRCm39)	T171A	possibly damaging	Het
Ltn1	A	T	16: 87,229,230 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,249,036 (GRCm39)	L7165P	probably damaging	Het
Micall2	T	A	5: 139,703,254 (GRCm39)	H194L	probably damaging	Het
Mmp16	T	A	4: 18,051,820 (GRCm39)	Y270N	probably damaging	Het
Nme6	T	G	9: 109,668,706 (GRCm39)	F41V	probably damaging	Het
Npffr1	A	G	10: 61,449,939 (GRCm39)	N71S	possibly damaging	Het
Or1p4-ps1	T	C	11: 74,207,949 (GRCm39)	W33R	probably damaging	Het
Or4k41	A	G	2: 111,279,967 (GRCm39)	I161V	probably benign	Het
Pard3b	T	A	1: 62,677,026 (GRCm39)	Y1186N	probably damaging	Het
Pate5	T	A	9: 35,750,682 (GRCm39)	T47S	probably damaging	Het
Pcca	A	G	14: 122,795,123 (GRCm39)		probably benign	Het
Plekha8	A	G	6: 54,592,540 (GRCm39)		probably benign	Het
Ptpn14	T	A	1: 189,554,872 (GRCm39)	L144*	probably null	Het
Rad52	C	T	6: 119,890,041 (GRCm39)	R56C	probably damaging	Het
Rdx	C	T	9: 51,997,753 (GRCm39)	R576C	probably damaging	Het
Rnf135	C	T	11: 80,074,957 (GRCm39)	T72I	probably benign	Het
Robo4	G	T	9: 37,314,601 (GRCm39)	R196L	probably benign	Het
Rsf1	G	GACGTCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Rsf1	A	T	7: 97,328,171 (GRCm39)	I1058F		Het
Ryr2	A	T	13: 11,799,990 (GRCm39)	V919E	probably damaging	Het
Slc39a6	A	T	18: 24,729,386 (GRCm39)	Y442*	probably null	Het
Slc4a11	T	G	2: 130,529,140 (GRCm39)	S437R	probably damaging	Het
Slc7a6	T	A	8: 106,922,534 (GRCm39)	V440E	probably damaging	Het
Sox2	A	T	3: 34,705,129 (GRCm39)	N189Y	possibly damaging	Het
Spata13	A	T	14: 60,994,030 (GRCm39)	M1161L	probably benign	Het
Spock3	T	A	8: 63,404,986 (GRCm39)	Y51*	probably null	Het
Sptbn1	A	G	11: 30,067,800 (GRCm39)	Y1805H	probably benign	Het
Tcerg1l	C	T	7: 137,999,260 (GRCm39)	W41*	probably null	Het
Tdrd9	A	G	12: 111,979,718 (GRCm39)	Y401C	probably benign	Het
Tex47	A	T	5: 7,355,115 (GRCm39)	I99F	probably damaging	Het
Tlr9	G	A	9: 106,099,834 (GRCm39)		probably benign	Het
Tmem209	T	A	6: 30,497,942 (GRCm39)	S276C	possibly damaging	Het
Tmprss11f	A	C	5: 86,687,618 (GRCm39)	S97A	possibly damaging	Het
Tnfaip8	ACACACTC	AC	18: 50,179,908 (GRCm39)		probably benign	Het
Ttc7	T	A	17: 87,637,520 (GRCm39)	M425K	probably damaging	Het
Ttn	C	T	2: 76,739,466 (GRCm39)	G3737D	unknown	Het
Unc13b	A	T	4: 43,176,484 (GRCm39)	R2437S	unknown	Het
Uqcrc1	C	T	9: 108,766,186 (GRCm39)	R58C	probably damaging	Het
Vmn1r128	A	G	7: 21,083,740 (GRCm39)	Y148C	possibly damaging	Het
Vmn1r193	T	C	13: 22,403,839 (GRCm39)	Y51C	probably benign	Het
Vmn2r112	A	G	17: 22,837,612 (GRCm39)	Y691C	probably damaging	Het
Vmn2r25	T	A	6: 123,800,569 (GRCm39)	D591V	probably damaging	Het
Vmn2r94	A	G	17: 18,464,335 (GRCm39)	S652P	possibly damaging	Het
Vps50	T	A	6: 3,536,967 (GRCm39)	C313S	probably damaging	Het
Vwa5b1	A	G	4: 138,338,041 (GRCm39)	V93A	probably benign	Het
Xrcc5	T	G	1: 72,382,190 (GRCm39)	D455E	possibly damaging	Het
Zdhhc6	T	A	19: 55,290,987 (GRCm39)		probably benign	Het
Zfp964	G	A	8: 70,116,405 (GRCm39)	G335D	probably damaging	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
R8079:Klhl14	UTSW	18	21,785,022 (GRCm39)	missense	probably benign	0.39
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'- TAAGTGCCCTGGACAGTGAAC -3'
(R):5'- GGACTGCTATGCGTAGACTTGG -3'

Sequencing Primer
(F):5'- CCCTGGACAGTGAACTTTGCAAAG -3'
(R):5'- TGAGTAACGTCCAAAAGTTCACAG -3'

Posted On

2021-08-02