Mutagenetix > Incidental Mutation

Incidental Mutation 'R3624:Klhl14'

269357

Institutional Source

Beutler Lab

Gene Symbol

Klhl14

Ensembl Gene

ENSMUSG00000042514

Gene Name

kelch-like 14

Synonyms

printor, 6330403N15Rik

MMRRC Submission

040678-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.655) question?

Stock #

R3624 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21683434-21787775 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21690953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 499 (V499D)

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: V499D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000042015
Gene: ENSMUSG00000042514
AA Change: V499D

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 damaging
Transcript: ENSMUST00000122333
AA Change: V499D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113755
Gene: ENSMUSG00000042514
AA Change: V499D

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	A	G	11: 7,080,348 (GRCm39)	T364A	probably benign	Het
Adcy2	T	C	13: 68,790,650 (GRCm39)	T905A	probably damaging	Het
Akap9	C	A	5: 4,026,235 (GRCm39)	Q1297K	possibly damaging	Het
Ankrd53	A	G	6: 83,740,244 (GRCm39)	E104G	possibly damaging	Het
Anks1	T	C	17: 28,205,262 (GRCm39)	F274L	probably damaging	Het
Btaf1	A	G	19: 36,958,486 (GRCm39)	T668A	probably benign	Het
Coch	A	G	12: 51,649,609 (GRCm39)	I307V	probably benign	Het
Colec11	T	C	12: 28,644,907 (GRCm39)	M196V	probably benign	Het
Cyp2c54	A	G	19: 40,058,688 (GRCm39)	I248T	probably benign	Het
D17H6S53E	A	G	17: 35,346,512 (GRCm39)	E141G	probably benign	Het
Dffb	T	C	4: 154,049,976 (GRCm39)	T296A	probably damaging	Het
Dock8	A	G	19: 25,057,241 (GRCm39)	Q216R	probably benign	Het
Elp1	C	T	4: 56,798,708 (GRCm39)	V85M	possibly damaging	Het
Emilin3	T	C	2: 160,750,177 (GRCm39)	D477G	possibly damaging	Het
Esp4	A	G	17: 40,913,484 (GRCm39)	K117R	unknown	Het
Fam186b	A	G	15: 99,178,396 (GRCm39)	L310S	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
H2-T3	T	C	17: 36,500,957 (GRCm39)	T20A	possibly damaging	Het
Htr1d	T	C	4: 136,170,815 (GRCm39)	I348T	probably damaging	Het
Hyal4	A	T	6: 24,765,737 (GRCm39)	S364C	probably damaging	Het
Igkv1-133	A	T	6: 67,701,944 (GRCm39)	Q16L	probably benign	Het
Irs2	C	T	8: 11,057,643 (GRCm39)	G263D	probably damaging	Het
Itih3	A	G	14: 30,636,700 (GRCm39)	Y38H	probably damaging	Het
Kif21a	A	G	15: 90,849,798 (GRCm39)	V35A	probably damaging	Het
Kmt2d	T	C	15: 98,740,783 (GRCm39)		probably benign	Het
Loxl4	A	G	19: 42,596,015 (GRCm39)	V146A	probably benign	Het
Met	A	T	6: 17,549,085 (GRCm39)	D979V	probably damaging	Het
Mga	A	G	2: 119,772,245 (GRCm39)	T1702A	probably damaging	Het
Midn	A	G	10: 79,986,144 (GRCm39)	D78G	probably benign	Het
Mlh3	C	T	12: 85,315,169 (GRCm39)	C339Y	probably damaging	Het
Mog	T	C	17: 37,323,338 (GRCm39)	H200R	possibly damaging	Het
Nadk2	T	A	15: 9,084,303 (GRCm39)	W139R	probably damaging	Het
Nsd3	A	G	8: 26,152,835 (GRCm39)	T392A	probably damaging	Het
Pbld2	T	C	10: 62,897,470 (GRCm39)	L57P	probably damaging	Het
Racgap1	T	A	15: 99,540,772 (GRCm39)	N26I	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Rspry1	A	G	8: 95,376,405 (GRCm39)	D309G	probably damaging	Het
Sgcz	T	C	8: 38,420,201 (GRCm39)	E17G	probably damaging	Het
Slc16a10	A	G	10: 40,017,890 (GRCm39)	V48A	probably benign	Het
Smad1	A	G	8: 80,066,327 (GRCm39)	V450A	probably benign	Het
Smad9	C	T	3: 54,696,705 (GRCm39)	R257W	probably damaging	Het
Snrpb	C	A	2: 130,017,299 (GRCm39)	R73L	probably null	Het
Spag11a	A	G	8: 19,209,417 (GRCm39)	D69G	probably benign	Het
Sptbn1	T	C	11: 30,090,593 (GRCm39)	H559R	probably damaging	Het
Strn3	T	C	12: 51,707,999 (GRCm39)	Y132C	possibly damaging	Het
Tasor2	T	C	13: 3,645,556 (GRCm39)	T98A	probably benign	Het
Tgm6	T	A	2: 129,993,681 (GRCm39)	V640E	possibly damaging	Het
Trim54	G	A	5: 31,294,320 (GRCm39)	V319M	possibly damaging	Het
Trpm1	A	G	7: 63,894,601 (GRCm39)	Y951C	probably damaging	Het
Ube3a	T	A	7: 58,921,860 (GRCm39)	N77K	probably damaging	Het
Uhrf1	C	T	17: 56,624,023 (GRCm39)	T482I	probably damaging	Het
Veph1	C	T	3: 66,122,858 (GRCm39)	V224I	probably benign	Het
Vmn1r30	A	T	6: 58,412,437 (GRCm39)	F132I	probably benign	Het
Vmn1r88	A	C	7: 12,911,790 (GRCm39)	M49L	probably benign	Het
Vmn2r24	A	G	6: 123,792,997 (GRCm39)	R775G	probably damaging	Het
Zfp60	T	A	7: 27,448,753 (GRCm39)	F474I	probably benign	Het
Zkscan8	C	T	13: 21,704,946 (GRCm39)	R259Q	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
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

Predicted Primers

PCR Primer
(F):5'- CATGTAATGCAAATGCTACTTGGAC -3'
(R):5'- GGAGTGCTACAACCTAGACAC -3'

Sequencing Primer
(F):5'- GCAAATGCTACTTGGACATATAAAAC -3'
(R):5'- CAAACGAGTGGCGCTATGTGTC -3'

Posted On

2015-02-19