Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02078:Klhl10'

186037

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02078

Quality Score

Status

Chromosome

Chromosomal Location

100332743-100347848 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100336577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 188 (D188G)

Ref Sequence

ENSEMBL: ENSMUSP00000103018 (fasta)

Gene Model

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

AlphaFold

Q9D5V2

Predicted Effect

probably benign
Transcript: ENSMUST00000001599
AA Change: D188G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000001599
Gene: ENSMUSG00000001558
AA Change: D188G

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 benign
Transcript: ENSMUST00000107395
AA Change: D188G

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000103018
Gene: ENSMUSG00000001558
AA Change: D188G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140381

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140034

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130666

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155025

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135557

Coding Region Coverage

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	T	C	15: 59,888,179 (GRCm39)	D87G	probably benign	Het
Acap1	C	T	11: 69,786,112 (GRCm39)	R18Q	probably damaging	Het
Atp1a1	A	C	3: 101,499,179 (GRCm39)	V140G	probably damaging	Het
Bmpr1b	G	A	3: 141,576,498 (GRCm39)	P112S	possibly damaging	Het
Chst8	T	A	7: 34,374,759 (GRCm39)	N360I	possibly damaging	Het
Cldn23	A	T	8: 36,293,359 (GRCm39)	V43E	possibly damaging	Het
Clta	T	C	4: 44,030,232 (GRCm39)	F168S	probably damaging	Het
Cyp2c40	T	C	19: 39,755,926 (GRCm39)	I463V	probably benign	Het
E2f2	A	G	4: 135,920,323 (GRCm39)	D436G	probably damaging	Het
Fbxo24	T	G	5: 137,622,611 (GRCm39)	T52P	probably damaging	Het
Gria4	G	A	9: 4,793,878 (GRCm39)	A60V	probably damaging	Het
Grm1	C	T	10: 10,565,354 (GRCm39)	V985M	probably benign	Het
Hexa	A	G	9: 59,464,586 (GRCm39)	T159A	probably benign	Het
Inf2	T	A	12: 112,568,048 (GRCm39)	V200E	probably damaging	Het
Kif20b	T	A	19: 34,913,044 (GRCm39)	V319E	probably damaging	Het
Mobp	G	A	9: 119,996,980 (GRCm39)	R37H	probably damaging	Het
Mybpc2	T	A	7: 44,153,204 (GRCm39)	D1086V	probably damaging	Het
Nadk	A	C	4: 155,663,860 (GRCm39)		probably benign	Het
Or7g33	T	A	9: 19,448,749 (GRCm39)	H159L	probably benign	Het
Per1	A	G	11: 68,995,125 (GRCm39)	E619G	probably damaging	Het
Rab3gap1	G	A	1: 127,796,652 (GRCm39)		probably benign	Het
Rimkla	A	G	4: 119,325,344 (GRCm39)	L355P	probably damaging	Het
Rnf139	A	G	15: 58,771,880 (GRCm39)	D635G	possibly damaging	Het
Sall1	T	A	8: 89,757,003 (GRCm39)	N1034Y	probably damaging	Het
Serpinb13	A	T	1: 106,926,688 (GRCm39)	Q228L	probably damaging	Het
Sin3b	G	T	8: 73,480,208 (GRCm39)	M903I	possibly damaging	Het
Slco1a5	A	T	6: 142,200,172 (GRCm39)	M204K	probably benign	Het
Smo	A	G	6: 29,754,707 (GRCm39)	D259G	possibly damaging	Het
Spata31g1	A	C	4: 42,972,685 (GRCm39)	K673Q	possibly damaging	Het
Sult2a4	T	C	7: 13,723,469 (GRCm39)	I15M	probably benign	Het
Ttn	T	A	2: 76,772,785 (GRCm39)		probably null	Het
Wdtc1	C	A	4: 133,033,271 (GRCm39)	D176Y	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
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
R9744:Klhl10	UTSW	11	100,336,396 (GRCm39)	missense	probably damaging	1.00
RF020:Klhl10	UTSW	11	100,332,896 (GRCm39)	missense	probably benign

Posted On

2014-05-07