Mutagenetix > Incidental Mutation

Incidental Mutation 'R9744:Klhl10'

731992

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: 0.387) question?

Stock #

R9744 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100332743-100347848 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 100336396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 128 (C128S)

Ref Sequence

ENSEMBL: ENSMUSP00000001599 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001599] [ENSMUST00000092688] [ENSMUST00000092689] [ENSMUST00000107395] [ENSMUST00000107397] [ENSMUST00000107398] [ENSMUST00000107399]

AlphaFold

Q9D5V2

Predicted Effect

probably damaging
Transcript: ENSMUST00000001599
AA Change: C128S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000001599
Gene: ENSMUSG00000001558
AA Change: C128S

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: ENSMUST00000092688

SMART Domains

Protein: ENSMUSP00000090360
Gene: ENSMUSG00000017176

Domain	Start	End	E-Value	Type
Pfam:UMPH-1	44	289	6.2e-126	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000092689

SMART Domains

Protein: ENSMUSP00000090361
Gene: ENSMUSG00000017176

Domain	Start	End	E-Value	Type
Pfam:UMPH-1	1	246	1.2e-123	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107395
AA Change: C128S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103018
Gene: ENSMUSG00000001558
AA Change: C128S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107397

SMART Domains

Protein: ENSMUSP00000103020
Gene: ENSMUSG00000017176

Domain	Start	End	E-Value	Type
Pfam:UMPH-1	36	281	1.9e-123	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107398

SMART Domains

Protein: ENSMUSP00000103021
Gene: ENSMUSG00000017176

Domain	Start	End	E-Value	Type
Pfam:UMPH-1	44	261	3.5e-108	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107399

SMART Domains

Protein: ENSMUSP00000103022
Gene: ENSMUSG00000017176

Domain	Start	End	E-Value	Type
Pfam:UMPH-1	44	261	3.5e-108	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.5%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	T	A	14: 68,742,583 (GRCm39)	M677L	probably benign	Het
Ankrd24	T	G	10: 81,482,951 (GRCm39)	D966E	possibly damaging	Het
Arhgef28	A	G	13: 98,094,261 (GRCm39)	L961P	probably damaging	Het
Atxn1	G	A	13: 45,721,299 (GRCm39)	Q199*	probably null	Het
Bcl2a1c	G	A	9: 114,159,341 (GRCm39)	V40I	probably benign	Het
Cep41	A	G	6: 30,656,603 (GRCm39)	V283A	probably benign	Het
Cerk	A	G	15: 86,033,491 (GRCm39)	Y311H	probably damaging	Het
Ciz1	A	T	2: 32,253,859 (GRCm39)	Q13L	unknown	Het
Cpeb2	T	C	5: 43,391,268 (GRCm39)	S155P		Het
Dmbx1	T	A	4: 115,777,262 (GRCm39)	E200D	probably damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Erc1	T	C	6: 119,720,360 (GRCm39)	Y747C	probably damaging	Het
Fhad1	T	C	4: 141,637,124 (GRCm39)	E1114G	probably damaging	Het
Fndc3a	C	A	14: 72,777,693 (GRCm39)	E1171*	probably null	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Gys2	A	C	6: 142,394,187 (GRCm39)	D450E	probably benign	Het
Hmcn1	A	T	1: 150,623,941 (GRCm39)	I1120N	probably damaging	Het
Ints3	G	T	3: 90,318,605 (GRCm39)	T210K	probably damaging	Het
Itih5	T	C	2: 10,256,221 (GRCm39)	Y896H	probably damaging	Het
Kcna7	A	G	7: 45,056,402 (GRCm39)	D206G	probably benign	Het
Klhl5	T	C	5: 65,320,255 (GRCm39)	V603A	probably damaging	Het
Mapk15	T	A	15: 75,869,912 (GRCm39)	I344N	possibly damaging	Het
Mdn1	T	C	4: 32,715,711 (GRCm39)	F1993L	possibly damaging	Het
Myo1c	T	C	11: 75,562,797 (GRCm39)	L959P	probably damaging	Het
Nectin1	A	G	9: 43,715,240 (GRCm39)	Q492R	probably damaging	Het
Nlrp14	A	T	7: 106,796,987 (GRCm39)	L951F	probably damaging	Het
Nlrp5	T	G	7: 23,120,902 (GRCm39)	S705R	possibly damaging	Het
Nlrp9a	A	G	7: 26,267,266 (GRCm39)	Y787C	probably benign	Het
Npsr1	A	G	9: 24,201,182 (GRCm39)	T189A	probably benign	Het
Nup205	T	C	6: 35,209,510 (GRCm39)	Y1606H	probably damaging	Het
Or2w4	A	G	13: 21,795,827 (GRCm39)	F104S	possibly damaging	Het
Or4k48	C	A	2: 111,475,664 (GRCm39)	R226L	probably benign	Het
Or6z5	A	T	7: 6,477,210 (GRCm39)	I34L	probably benign	Het
Pitx2	A	T	3: 129,009,467 (GRCm39)	T129S	probably damaging	Het
Pla2g2c	T	C	4: 138,470,972 (GRCm39)	S118P	probably damaging	Het
Polr1a	A	G	6: 71,906,372 (GRCm39)	N396S	probably benign	Het
Prl	A	T	13: 27,248,338 (GRCm39)	Q135L	probably benign	Het
Prrc2c	A	G	1: 162,505,733 (GRCm39)	L2555P	possibly damaging	Het
Psg29	A	T	7: 16,944,495 (GRCm39)	D335V	probably benign	Het
Psme4	T	C	11: 30,765,294 (GRCm39)		probably null	Het
Ramp2	T	A	11: 101,137,913 (GRCm39)	S52T	unknown	Het
Skint6	C	T	4: 112,666,360 (GRCm39)	G1155D	probably damaging	Het
Sorcs1	G	A	19: 50,215,275 (GRCm39)	R655C	probably damaging	Het
Syne1	A	G	10: 5,274,184 (GRCm39)	C1867R	probably benign	Het
Tcf21	T	C	10: 22,695,726 (GRCm39)	D26G	probably benign	Het
Tmem132a	G	A	19: 10,840,678 (GRCm39)	P418L	probably damaging	Het
Tob1	C	T	11: 94,105,054 (GRCm39)	R197C	probably damaging	Het
Vmn2r110	A	G	17: 20,794,848 (GRCm39)	V607A	probably damaging	Het
Vmn2r30	A	G	7: 7,315,284 (GRCm39)	S850P	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
R9324:Klhl10	UTSW	11	100,338,481 (GRCm39)	missense	probably benign	0.13
RF020:Klhl10	UTSW	11	100,332,896 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGAGGAGAATGTTTCCGTGC -3'
(R):5'- TGACAGAGAGCTCCAGAAACTC -3'

Sequencing Primer
(F):5'- CCCCAGAGCTTTGTTTACAAGTGG -3'
(R):5'- AGAAACTCTGCCGAGACTTTC -3'

Posted On

2022-11-14