Mutagenetix > Incidental Mutation

Incidental Mutation 'R4772:Klhl10'

367627

Institutional Source

Beutler Lab

Gene Symbol

Klhl10

Ensembl Gene

ENSMUSG00000001558

Gene Name

kelch-like 10

Synonyms

4921517C11Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.401) question?

Stock #

R4772 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100332743-100347848 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100338557 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 432 (Y432F)

Ref Sequence

ENSEMBL: ENSMUSP00000001599 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001599] [ENSMUST00000107395]

AlphaFold

Q9D5V2

Predicted Effect

probably benign
Transcript: ENSMUST00000001599
AA Change: Y432F

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000001599
Gene: ENSMUSG00000001558
AA Change: Y432F

Domain	Start	End	E-Value	Type
BTB	39	136	1.09e-30	SMART
BACK	141	244	6.58e-38	SMART
Kelch	292	339	2.99e-7	SMART
Kelch	340	386	2.66e-13	SMART
Kelch	387	433	1.7e-11	SMART
Kelch	434	480	1.47e-15	SMART
Kelch	481	527	2.2e-14	SMART
Kelch	528	574	3.6e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107395

SMART Domains

Protein: ENSMUSP00000103018
Gene: ENSMUSG00000001558

Domain	Start	End	E-Value	Type
BTB	39	136	1.09e-30	SMART
BACK	141	239	5.74e-29	SMART

Meta Mutation Damage Score

0.0992

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

95% (74/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain a BACK domain and six C-terminal kelch repeats. Kelch domains are thought to form a four stranded beta-sheet blade structure that can fold into a beta-propeller domain when multiple kelch repeats are found together. Mutations in this gene have been associated with oligozoospermia in some infertile males. [provided by RefSeq, Jul 2016]
PHENOTYPE: Disruption of one allele results in haploinsufficient male infertility in which heterozygous and chimeric males have a block in spermiogenesis. Female chimeras are fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,265,339 (GRCm39)		probably null	Het
Adamts19	A	G	18: 58,970,848 (GRCm39)	Q144R	possibly damaging	Het
Adgrb3	C	A	1: 25,570,956 (GRCm39)	C507F	probably damaging	Het
Atg9b	T	C	5: 24,590,237 (GRCm39)	*923W	probably null	Het
Atp13a4	T	C	16: 29,239,653 (GRCm39)		probably benign	Het
Baz2b	G	T	2: 59,788,795 (GRCm39)	R697S	probably damaging	Het
Bicdl1	A	G	5: 115,799,537 (GRCm39)	I184T	probably benign	Het
Bpifb4	C	T	2: 153,784,903 (GRCm39)	L204F	possibly damaging	Het
Cep120	C	T	18: 53,851,561 (GRCm39)	R577Q	probably damaging	Het
Cplx4	T	C	18: 66,103,048 (GRCm39)	E24G	possibly damaging	Het
Dcxr	T	C	11: 120,616,923 (GRCm39)	T147A	probably benign	Het
Dnajc10	C	A	2: 80,170,870 (GRCm39)	H454N	probably damaging	Het
Dsp	G	T	13: 38,351,504 (GRCm39)	G108*	probably null	Het
Entpd6	T	A	2: 150,609,014 (GRCm39)	I366K	probably damaging	Het
Fam111a	A	G	19: 12,565,057 (GRCm39)	K269E	probably benign	Het
Grid2ip	T	G	5: 143,361,455 (GRCm39)	V222G	possibly damaging	Het
Hmcn2	T	G	2: 31,335,326 (GRCm39)	V4421G	probably benign	Het
Ifi207	T	C	1: 173,555,253 (GRCm39)	T817A	probably damaging	Het
Irak2	A	T	6: 113,670,683 (GRCm39)	E533V	probably damaging	Het
Katnip	A	G	7: 125,464,523 (GRCm39)	S1297G	probably damaging	Het
Kbtbd6	T	C	14: 79,689,596 (GRCm39)	F97S	probably damaging	Het
Kctd14	A	T	7: 97,106,883 (GRCm39)	E99V	probably damaging	Het
Lrrc49	T	C	9: 60,592,335 (GRCm39)	N53S	possibly damaging	Het
Mief2	T	A	11: 60,621,288 (GRCm39)		probably benign	Het
Mog	A	T	17: 37,334,049 (GRCm39)	S15T	unknown	Het
Mpi	T	C	9: 57,452,181 (GRCm39)	D365G	probably damaging	Het
Mpp7	A	G	18: 7,379,983 (GRCm39)		probably null	Het
Nes	A	G	3: 87,883,486 (GRCm39)	T582A	probably benign	Het
Nlrp14	A	G	7: 106,780,393 (GRCm39)	D5G	probably benign	Het
Nr1i3	C	T	1: 171,044,719 (GRCm39)	T218I	probably damaging	Het
Nup43	C	T	10: 7,554,433 (GRCm39)	R339*	probably null	Het
Nup58	T	A	14: 60,457,471 (GRCm39)	R577S	probably benign	Het
Olfr908	C	T	9: 38,427,897 (GRCm39)		probably benign	Het
Or4l15	AAATTTGAA	AAA	14: 50,198,452 (GRCm39)		probably benign	Het
Or52n4b	T	A	7: 108,144,092 (GRCm39)	M120K	probably damaging	Het
Or5d35	T	A	2: 87,855,207 (GRCm39)	I47K	probably damaging	Het
Or6c38	A	T	10: 128,929,537 (GRCm39)	V102D	possibly damaging	Het
Or9g20	G	A	2: 85,630,338 (GRCm39)	S92F	probably damaging	Het
Orc1	T	C	4: 108,436,765 (GRCm39)		probably benign	Het
Pax6	C	A	2: 105,526,847 (GRCm39)	P251Q	probably benign	Het
Phactr3	C	T	2: 177,925,729 (GRCm39)	R330W	probably damaging	Het
Phldb1	G	A	9: 44,622,324 (GRCm39)	R81W	probably damaging	Het
Pip5k1c	C	T	10: 81,151,774 (GRCm39)	P656L	probably benign	Het
Pkn3	T	G	2: 29,974,692 (GRCm39)		probably null	Het
Plcb2	T	A	2: 118,543,615 (GRCm39)	H752L	probably benign	Het
Plch1	G	A	3: 63,660,746 (GRCm39)	T291M	probably damaging	Het
Plekhg1	A	T	10: 3,823,127 (GRCm39)	M32L	probably benign	Het
Plekhg1	A	T	10: 3,823,130 (GRCm39)	T33S	probably damaging	Het
Plk4	A	G	3: 40,759,625 (GRCm39)	T174A	probably damaging	Het
Ppip5k2	C	A	1: 97,648,792 (GRCm39)		probably benign	Het
Prl2a1	G	A	13: 27,988,961 (GRCm39)	V29M	probably benign	Het
R3hcc1l	T	C	19: 42,571,996 (GRCm39)		probably benign	Het
Rasa3	C	T	8: 13,648,289 (GRCm39)	G125D	probably damaging	Het
Sema3f	A	T	9: 107,566,919 (GRCm39)	Y136*	probably null	Het
Slc13a5	T	A	11: 72,141,672 (GRCm39)		probably null	Het
Slc16a1	T	C	3: 104,560,880 (GRCm39)	V395A	possibly damaging	Het
Sparcl1	C	T	5: 104,236,356 (GRCm39)	A466T	probably benign	Het
Srrm1	G	A	4: 135,069,690 (GRCm39)		probably benign	Het
Styxl1	G	A	5: 135,797,755 (GRCm39)	R50*	probably null	Het
Tex264	T	A	9: 106,550,901 (GRCm39)	I99F	possibly damaging	Het
Tgtp2	T	C	11: 48,949,811 (GRCm39)	T254A	probably damaging	Het
Tmem245	A	C	4: 56,937,989 (GRCm39)		probably null	Het
Tnik	A	T	3: 28,661,359 (GRCm39)	T587S	probably benign	Het
Tpr	T	G	1: 150,288,864 (GRCm39)	S648A	possibly damaging	Het
Ttn	T	C	2: 76,596,313 (GRCm39)	E18454G	probably damaging	Het
Utp20	A	C	10: 88,645,797 (GRCm39)	H527Q	probably benign	Het
Vmn1r1	A	T	1: 181,985,111 (GRCm39)	S185T	probably benign	Het
Vps54	C	T	11: 21,262,952 (GRCm39)	H680Y	probably damaging	Het
Vwa5b2	A	G	16: 20,419,553 (GRCm39)		probably null	Het
Wscd1	T	C	11: 71,662,802 (GRCm39)		probably null	Het
Zbtb41	C	T	1: 139,375,152 (GRCm39)	P871S	probably damaging	Het
Zcchc4	T	C	5: 52,953,549 (GRCm39)	L186P	possibly damaging	Het
Zdhhc13	A	G	7: 48,449,621 (GRCm39)	Y73C	probably benign	Het
Zfp12	A	G	5: 143,225,755 (GRCm39)	E21G	probably damaging	Het

Other mutations in Klhl10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00473:Klhl10	APN	11	100,347,240 (GRCm39)	missense	probably damaging	1.00
IGL00540:Klhl10	APN	11	100,336,244 (GRCm39)	missense	probably benign	0.35
IGL00988:Klhl10	APN	11	100,347,110 (GRCm39)	missense	possibly damaging	0.82
IGL02078:Klhl10	APN	11	100,336,577 (GRCm39)	missense	probably benign	0.19
IGL03153:Klhl10	APN	11	100,347,758 (GRCm39)	missense	probably benign
R0110:Klhl10	UTSW	11	100,347,758 (GRCm39)	missense	probably benign	0.00
R0532:Klhl10	UTSW	11	100,337,937 (GRCm39)	unclassified	probably benign
R1772:Klhl10	UTSW	11	100,333,022 (GRCm39)	missense	probably benign	0.15
R4017:Klhl10	UTSW	11	100,336,500 (GRCm39)	missense	probably benign	0.16
R4508:Klhl10	UTSW	11	100,333,002 (GRCm39)	missense	possibly damaging	0.87
R4831:Klhl10	UTSW	11	100,336,669 (GRCm39)	missense	probably benign	0.04
R5267:Klhl10	UTSW	11	100,338,047 (GRCm39)	missense	probably benign	0.26
R7086:Klhl10	UTSW	11	100,347,768 (GRCm39)	missense	probably benign	0.02
R8223:Klhl10	UTSW	11	100,338,227 (GRCm39)	missense	probably damaging	1.00
R9076:Klhl10	UTSW	11	100,337,962 (GRCm39)	missense	possibly damaging	0.52
R9288:Klhl10	UTSW	11	100,347,719 (GRCm39)	missense	probably benign
R9324:Klhl10	UTSW	11	100,338,481 (GRCm39)	missense	probably benign	0.13
R9744:Klhl10	UTSW	11	100,336,396 (GRCm39)	missense	probably damaging	1.00
RF020:Klhl10	UTSW	11	100,332,896 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CACTCTAGACGTTGCTATGTCAG -3'
(R):5'- TCAGCATGCTCCCCATCAA -3'

Sequencing Primer
(F):5'- GCGTGACAGTCCTCAGCAATTTC -3'
(R):5'- TTAGCCTCCCAAGTGCTAGG -3'

Posted On

2015-12-29