Mutagenetix > Incidental Mutation

Incidental Mutation 'R9324:Klhl10'

706402

Institutional Source

Beutler Lab

Gene Symbol

Klhl10

Ensembl Gene

ENSMUSG00000001558

Gene Name

kelch-like 10

Synonyms

4921517C11Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9324 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100332743-100347848 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100338481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 407 (E407K)

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: E407K

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000001599
Gene: ENSMUSG00000001558
AA Change: E407K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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 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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	G	7: 119,179,856 (GRCm39)	H358R	probably benign	Het
Arid3c	A	G	4: 41,730,138 (GRCm39)	L19S	possibly damaging	Het
Arpp21	T	A	9: 111,986,765 (GRCm39)	D262V	probably damaging	Het
Atp4a	A	C	7: 30,415,207 (GRCm39)	I276L	probably benign	Het
Axl	C	G	7: 25,460,982 (GRCm39)	E676Q	probably damaging	Het
Ces1g	T	C	8: 94,055,118 (GRCm39)	D193G	probably damaging	Het
Crym	A	G	7: 119,789,005 (GRCm39)	V274A	probably damaging	Het
Efcab5	T	A	11: 77,004,546 (GRCm39)	H924L	possibly damaging	Het
Eif1ad7	T	A	12: 88,238,709 (GRCm39)	N17I	unknown	Het
Eif3l	T	A	15: 78,978,423 (GRCm39)	M560K	probably benign	Het
Fam234b	C	A	6: 135,202,793 (GRCm39)	Y382*	probably null	Het
Fbxw19	T	C	9: 109,313,440 (GRCm39)	K253E	possibly damaging	Het
Fhip1a	T	C	3: 85,638,053 (GRCm39)	D82G	probably benign	Het
Flt3	A	G	5: 147,313,790 (GRCm39)	S87P	probably benign	Het
Garin3	A	T	11: 46,295,810 (GRCm39)	I61F		Het
Ggnbp2	A	G	11: 84,725,174 (GRCm39)	L627S	probably damaging	Het
Gm26661	T	G	14: 7,791,765 (GRCm38)	V60G	unknown	Het
Golt1a	T	C	1: 133,247,094 (GRCm39)	L34P	probably damaging	Het
Gp5	T	C	16: 30,127,808 (GRCm39)	M289V	possibly damaging	Het
Gpr63	C	G	4: 25,008,432 (GRCm39)	H385Q	possibly damaging	Het
Hcn1	G	A	13: 118,111,901 (GRCm39)	V622I	unknown	Het
Hipk4	A	G	7: 27,228,834 (GRCm39)	D428G	probably damaging	Het
Hs3st1	T	C	5: 39,772,145 (GRCm39)	Y166C	probably damaging	Het
Hsd17b3	A	G	13: 64,206,459 (GRCm39)	F281S	possibly damaging	Het
Ifih1	T	C	2: 62,475,950 (GRCm39)	T109A	probably benign	Het
Ighv1-64	T	A	12: 115,471,645 (GRCm39)		probably benign	Het
Ina	T	C	19: 47,003,816 (GRCm39)	L208P		Het
Iqcn	C	T	8: 71,161,794 (GRCm39)	T329I	possibly damaging	Het
Irak2	T	C	6: 113,615,604 (GRCm39)		probably null	Het
Krt81	A	G	15: 101,361,335 (GRCm39)	S82P	probably damaging	Het
Ktn1	C	A	14: 47,948,353 (GRCm39)	Q963K	probably benign	Het
Lgalsl2	G	A	7: 5,362,527 (GRCm39)	V53I	possibly damaging	Het
Lrrc42	A	T	4: 107,104,913 (GRCm39)	Y17*	probably null	Het
Lrrc9	A	C	12: 72,496,171 (GRCm39)	E15D	probably damaging	Het
Mak	G	A	13: 41,202,839 (GRCm39)	T203I	probably benign	Het
Masp2	T	C	4: 148,692,485 (GRCm39)	V326A	possibly damaging	Het
Mdc1	T	C	17: 36,164,258 (GRCm39)	S1269P	probably benign	Het
Mink1	G	A	11: 70,502,477 (GRCm39)	V1027M	probably damaging	Het
Mrps10	C	A	17: 47,686,903 (GRCm39)	S123*	probably null	Het
Myl10	C	T	5: 136,729,787 (GRCm39)	H142Y	probably damaging	Het
Ncan	T	C	8: 70,560,648 (GRCm39)	Q773R	possibly damaging	Het
Nlrp3	T	A	11: 59,434,141 (GRCm39)	M68K	probably damaging	Het
Ntrk1	C	T	3: 87,698,745 (GRCm39)	V99M	possibly damaging	Het
Odad3	T	C	9: 21,903,207 (GRCm39)	E402G	probably damaging	Het
Or4p22	C	T	2: 88,317,787 (GRCm39)	T237I	probably damaging	Het
Or5an1	A	G	19: 12,260,939 (GRCm39)	R176G	probably benign	Het
Or8c8	A	G	9: 38,164,962 (GRCm39)	K80R	probably benign	Het
Phldb2	A	G	16: 45,595,437 (GRCm39)	V830A	probably damaging	Het
Phospho2	T	C	2: 69,625,913 (GRCm39)	V23A	probably damaging	Het
Plxnc1	G	A	10: 94,780,685 (GRCm39)		probably benign	Het
Ppcdc	T	C	9: 57,342,280 (GRCm39)	E14G	probably benign	Het
Ralgapa2	T	C	2: 146,302,645 (GRCm39)	Y106C	probably damaging	Het
Rgs22	T	C	15: 36,087,544 (GRCm39)	Q582R	probably benign	Het
Rngtt	T	A	4: 33,320,613 (GRCm39)	Y53*	probably null	Het
Slc12a3	T	G	8: 95,083,028 (GRCm39)		probably null	Het
Slc26a11	A	G	11: 119,267,730 (GRCm39)	T456A	probably benign	Het
Slc26a5	G	T	5: 22,018,334 (GRCm39)	A677E	possibly damaging	Het
Smurf1	T	C	5: 144,817,463 (GRCm39)	T690A	probably benign	Het
Spata24	A	T	18: 35,790,064 (GRCm39)	N142K	probably damaging	Het
Ubqlnl	A	T	7: 103,798,962 (GRCm39)	N178K	possibly damaging	Het
Uggt2	A	G	14: 119,312,741 (GRCm39)		probably null	Het
Vmn1r2	C	A	4: 3,172,678 (GRCm39)	A199D	probably damaging	Het
Vmn2r39	T	C	7: 9,030,684 (GRCm39)	N128S	probably damaging	Het
Vmn2r61	G	T	7: 41,916,619 (GRCm39)	V411F	probably benign	Het
Vmn2r-ps117	T	A	17: 19,042,911 (GRCm39)	F106L	probably benign	Het
Zfp503	A	T	14: 22,035,353 (GRCm39)	I521N	possibly damaging	Het
Zfp831	T	C	2: 174,547,113 (GRCm39)	V1432A	probably benign	Het
Zfp981	T	A	4: 146,619,884 (GRCm39)	L13I	possibly 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
R4772:Klhl10	UTSW	11	100,338,557 (GRCm39)	missense	probably benign	0.23
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
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'- AGGAAGAAAGTCCTCGAGCCTAC -3'
(R):5'- AAGACAACTGGGAGTGCTGC -3'

Sequencing Primer
(F):5'- CGGGGCAGCCTACTTGAAAG -3'
(R):5'- GAGTGCTGCCATTTTGTCTTCCAG -3'

Posted On

2022-04-18