Mutagenetix > Incidental Mutation

Incidental Mutation 'R7519:Klhl14'

582595

Institutional Source

Beutler Lab

Gene Symbol

Klhl14

Ensembl Gene

ENSMUSG00000042514

Gene Name

kelch-like 14

Synonyms

printor, 6330403N15Rik

MMRRC Submission

045591-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.655) question?

Stock #

R7519 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21683434-21787775 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 21784900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 176 (V176I)

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: V176I

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000042015
Gene: ENSMUSG00000042514
AA Change: V176I

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: V176I

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113755
Gene: ENSMUSG00000042514
AA Change: V176I

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (54/54)

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
2310022A10Rik	G	A	7: 27,274,155 (GRCm39)	R132K		Het
Acaca	T	C	11: 84,136,682 (GRCm39)	S571P	probably damaging	Het
Adamts20	T	G	15: 94,223,869 (GRCm39)	K1286N	possibly damaging	Het
Adamts7	A	G	9: 90,079,132 (GRCm39)	D1477G	probably benign	Het
Alox12b	C	T	11: 69,054,039 (GRCm39)	T207I	probably benign	Het
Arid1b	GGGCGGCGGCGGCGGCGGCGGCGG	GGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	17: 5,046,119 (GRCm39)		probably benign	Het
Arid1b	CGGCGG	CGGCGGTGGCGG	17: 5,046,128 (GRCm39)		probably benign	Het
Aspm	T	A	1: 139,418,074 (GRCm39)	N2934K	possibly damaging	Het
Axin2	T	G	11: 108,833,072 (GRCm39)	V419G	probably benign	Het
B4galnt4	A	G	7: 140,644,257 (GRCm39)	T108A	probably damaging	Het
Cacna1s	G	A	1: 135,998,494 (GRCm39)	R174Q	probably damaging	Het
Cdh18	G	T	15: 23,474,298 (GRCm39)	A723S	possibly damaging	Het
Ces4a	T	C	8: 105,871,851 (GRCm39)	M307T	probably damaging	Het
Cobl	T	A	11: 12,203,124 (GRCm39)	I1193F	probably damaging	Het
Crb2	G	T	2: 37,683,332 (GRCm39)	G945W	probably damaging	Het
Ctnna1	T	G	18: 35,307,424 (GRCm39)	I140M	probably benign	Het
Dnah5	T	C	15: 28,390,629 (GRCm39)	S3213P	probably damaging	Het
Fbln7	A	G	2: 128,735,785 (GRCm39)	S258G	probably benign	Het
Fbxo15	T	G	18: 84,982,359 (GRCm39)		probably benign	Het
Fcgbp	A	G	7: 27,785,724 (GRCm39)	Y387C	probably damaging	Het
Flt3l	G	A	7: 44,783,269 (GRCm39)	T176I	unknown	Het
Galk2	G	A	2: 125,825,172 (GRCm39)	R456H	possibly damaging	Het
Gm10840	T	C	11: 106,051,716 (GRCm39)	L14P	unknown	Het
Gm5591	T	C	7: 38,220,094 (GRCm39)	T260A	possibly damaging	Het
Gm6370	T	A	5: 146,430,638 (GRCm39)	D274E	probably damaging	Het
Grhl2	T	A	15: 37,336,556 (GRCm39)	D484E	probably damaging	Het
Hbp1	A	T	12: 31,983,374 (GRCm39)	V360D	probably damaging	Het
Heatr5b	G	T	17: 79,062,646 (GRCm39)	Q1968K	probably benign	Het
Igsf8	C	T	1: 172,143,874 (GRCm39)	T72M	probably benign	Het
Kera	A	T	10: 97,444,884 (GRCm39)	N81I	probably damaging	Het
Klrb1	A	T	6: 128,689,252 (GRCm39)	V73E	probably damaging	Het
Krtap31-2	T	C	11: 99,827,501 (GRCm39)	L111P	possibly damaging	Het
Mbtd1	T	C	11: 93,799,725 (GRCm39)	S106P	probably damaging	Het
Nckap5l	T	C	15: 99,324,128 (GRCm39)	T792A	probably benign	Het
Ndufaf4	A	C	4: 24,901,847 (GRCm39)	T132P	probably damaging	Het
Neo1	A	G	9: 58,785,348 (GRCm39)	V1453A	probably benign	Het
Or5w13	T	C	2: 87,523,753 (GRCm39)	I158V	probably benign	Het
Or6c76	A	C	10: 129,612,091 (GRCm39)	I103L	probably benign	Het
Pcdha11	T	A	18: 37,139,319 (GRCm39)	L316*	probably null	Het
Pcdha7	T	C	18: 37,109,285 (GRCm39)	M770T	possibly damaging	Het
Pcsk1	T	C	13: 75,258,984 (GRCm39)	S253P	probably damaging	Het
Phtf1	T	C	3: 103,876,435 (GRCm39)	Y12H	probably damaging	Het
Pkd1l2	T	C	8: 117,792,268 (GRCm39)	N508S	probably benign	Het
Pla1a	A	G	16: 38,235,208 (GRCm39)	I162T	possibly damaging	Het
Rb1	A	T	14: 73,502,048 (GRCm39)	L446M	probably damaging	Het
Retn	A	T	8: 3,706,079 (GRCm39)	S22C	probably damaging	Het
Snx25	A	G	8: 46,569,309 (GRCm39)	L196P	probably damaging	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Spata31d1b	G	A	13: 59,864,726 (GRCm39)	D625N	probably benign	Het
Sycp2	T	C	2: 177,988,126 (GRCm39)	*1501W	probably null	Het
Tarbp1	T	G	8: 127,160,639 (GRCm39)	T1271P	possibly damaging	Het
Uba1y	T	C	Y: 821,567 (GRCm39)	F154L	probably benign	Het
Ubr1	T	A	2: 120,705,925 (GRCm39)	I1513F	possibly damaging	Het
Vmn2r110	T	A	17: 20,804,524 (GRCm39)	Q132L	probably benign	Het
Vwf	A	T	6: 125,644,506 (GRCm39)	T2454S		Het
Wdr33	C	A	18: 32,029,823 (GRCm39)	F1007L	unknown	Het
Zfp398	A	G	6: 47,836,407 (GRCm39)	H201R	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
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'- TCTGGAAAAGTGCCAGCTC -3'
(R):5'- CTCGCAGTACTTCCGATCAC -3'

Sequencing Primer
(F):5'- AAGTGCCAGCTCCGACTC -3'
(R):5'- GACGACAAGCTGCTGACCAG -3'

Posted On

2019-10-17