Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01623:Klhl41'

278675

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klhl41

Ensembl Gene

ENSMUSG00000075307

Gene Name

kelch-like 41

Synonyms

Kbtbd10, LOC228003

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

IGL01623

Quality Score

Status

Chromosome

Chromosomal Location

69500464-69514574 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69508582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 512 (V512A)

Ref Sequence

ENSEMBL: ENSMUSP00000097627 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100050]

AlphaFold

A2AUC9

Predicted Effect

probably benign
Transcript: ENSMUST00000100050
AA Change: V512A

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000097627
Gene: ENSMUSG00000075307
AA Change: V512A

Domain	Start	End	E-Value	Type
BTB	33	130	8.34e-27	SMART
BACK	135	237	9.67e-36	SMART
Kelch	346	398	6.71e-1	SMART
Kelch	399	447	1.56e-5	SMART
Kelch	448	495	2.43e-7	SMART
Kelch	496	542	5.81e-5	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the kelch-like family. The encoded protein contains a BACK domain, a BTB/POZ domain, and 5 Kelch repeats. This protein is thought to function in skeletal muscle development and maintenance. Mutations in this gene have been associated with nemaline myopathy (NM), a rare congenital muscle disorder. [provided by RefSeq, Mar 2015]
PHENOTYPE: The gene product is involved in stabilizing proteins involved in muscle function. Homozygous knockout affects the structure of muscle fibers and their sarcomeres, resulting in neonatal death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	G	A	14: 35,532,024 (GRCm39)	Q184*	probably null	Het
A1bg	A	C	15: 60,789,742 (GRCm39)	I502S	possibly damaging	Het
Actl11	T	C	9: 107,805,775 (GRCm39)	S33P	probably benign	Het
Aftph	G	T	11: 20,659,632 (GRCm39)	D730E	probably damaging	Het
Arhgap29	A	G	3: 121,767,773 (GRCm39)		probably benign	Het
Brf1	T	G	12: 112,924,795 (GRCm39)	E643A	probably benign	Het
Caskin1	G	T	17: 24,722,914 (GRCm39)		probably null	Het
Ccnjl	T	C	11: 43,476,154 (GRCm39)	V259A	probably benign	Het
Ccser2	G	T	14: 36,662,920 (GRCm39)	T88K	probably benign	Het
Cdk17	T	C	10: 93,074,824 (GRCm39)		probably benign	Het
Clec16a	G	A	16: 10,395,774 (GRCm39)	S309N	possibly damaging	Het
Cpxm1	C	A	2: 130,233,191 (GRCm39)	A633S	probably benign	Het
Ctnnbl1	A	T	2: 157,661,468 (GRCm39)	N326I	probably damaging	Het
Cyp46a1	T	C	12: 108,318,234 (GRCm39)	V215A	possibly damaging	Het
Dnah6	T	C	6: 73,121,701 (GRCm39)	Y1427C	probably damaging	Het
Dpy19l3	G	A	7: 35,422,169 (GRCm39)	T228I	probably damaging	Het
Fam131c	C	T	4: 141,109,761 (GRCm39)	A131V	possibly damaging	Het
Fat1	A	G	8: 45,482,592 (GRCm39)	T3061A	possibly damaging	Het
Fgl2	T	A	5: 21,578,175 (GRCm39)	L154H	possibly damaging	Het
Fhod3	T	A	18: 25,155,924 (GRCm39)	I514K	probably benign	Het
Frem3	A	G	8: 81,340,544 (GRCm39)	T946A	probably benign	Het
Gan	T	A	8: 117,913,917 (GRCm39)	V105D	probably damaging	Het
Garin5b	A	G	7: 4,761,722 (GRCm39)	V330A	probably benign	Het
Gm28043	T	C	17: 29,895,222 (GRCm39)	F134L	probably benign	Het
Gramd1c	A	G	16: 43,811,061 (GRCm39)	V221A	probably damaging	Het
Hacd1	A	G	2: 14,040,667 (GRCm39)	V196A	probably benign	Het
Kcna6	C	A	6: 126,715,576 (GRCm39)	V438L	probably damaging	Het
Lrfn1	A	G	7: 28,166,111 (GRCm39)	T502A	probably damaging	Het
Notch3	A	T	17: 32,377,844 (GRCm39)	F105I	possibly damaging	Het
Or4b13	T	G	2: 90,082,953 (GRCm39)	K126N	probably damaging	Het
Or5m10	A	T	2: 85,717,306 (GRCm39)	H54L	probably benign	Het
P3h1	C	T	4: 119,092,480 (GRCm39)	T171I	probably damaging	Het
Pcdhb1	A	G	18: 37,399,366 (GRCm39)	E439G	possibly damaging	Het
Pik3c3	A	T	18: 30,423,578 (GRCm39)	K225*	probably null	Het
Pik3c3	A	G	18: 30,426,102 (GRCm39)		probably benign	Het
Pik3r5	T	A	11: 68,377,452 (GRCm39)		probably null	Het
Pnpt1	A	C	11: 29,098,272 (GRCm39)		probably benign	Het
Ppp2r1b	T	A	9: 50,789,422 (GRCm39)	V495D	probably damaging	Het
Rbfox3	C	A	11: 118,396,440 (GRCm39)		probably benign	Het
Sec14l2	G	A	11: 4,053,966 (GRCm39)	P234S	possibly damaging	Het
Sec16a	A	C	2: 26,328,915 (GRCm39)	D1033E	probably benign	Het
Septin14	A	G	5: 129,763,019 (GRCm39)	V357A	probably damaging	Het
Setx	T	C	2: 29,053,021 (GRCm39)	V2095A	possibly damaging	Het
Sf3a3	C	T	4: 124,612,136 (GRCm39)	T131I	possibly damaging	Het
Snrpa	A	T	7: 26,892,395 (GRCm39)	M55K	probably benign	Het
Swt1	G	T	1: 151,286,760 (GRCm39)	T244N	probably benign	Het
Tbl1xr1	A	G	3: 22,246,238 (GRCm39)	T253A	probably benign	Het
Tst	G	T	15: 78,283,964 (GRCm39)	R288S	probably benign	Het
Vmn2r60	A	G	7: 41,785,910 (GRCm39)	I238V	probably benign	Het
Zbtb14	A	G	17: 69,695,184 (GRCm39)	K294R	probably benign	Het
Zfp710	T	A	7: 79,730,871 (GRCm39)	V16E	probably damaging	Het
Zfpm2	A	G	15: 40,965,320 (GRCm39)	T602A	probably benign	Het
Zfr2	G	A	10: 81,087,193 (GRCm39)	M850I	probably benign	Het

Other mutations in Klhl41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01316:Klhl41	APN	2	69,505,068 (GRCm39)	missense	probably benign	0.00
IGL01622:Klhl41	APN	2	69,508,582 (GRCm39)	missense	probably benign	0.05
IGL03237:Klhl41	APN	2	69,500,902 (GRCm39)	missense	possibly damaging	0.94
R0220:Klhl41	UTSW	2	69,500,829 (GRCm39)	missense	probably benign	0.25
R0277:Klhl41	UTSW	2	69,501,640 (GRCm39)	missense	probably damaging	1.00
R0456:Klhl41	UTSW	2	69,500,893 (GRCm39)	missense	probably damaging	0.99
R0485:Klhl41	UTSW	2	69,501,600 (GRCm39)	missense	probably damaging	0.97
R0536:Klhl41	UTSW	2	69,500,554 (GRCm39)	missense	probably benign	0.04
R0537:Klhl41	UTSW	2	69,500,554 (GRCm39)	missense	probably benign	0.04
R0552:Klhl41	UTSW	2	69,500,554 (GRCm39)	missense	probably benign	0.04
R0553:Klhl41	UTSW	2	69,500,554 (GRCm39)	missense	probably benign	0.04
R0834:Klhl41	UTSW	2	69,508,491 (GRCm39)	missense	possibly damaging	0.76
R0879:Klhl41	UTSW	2	69,513,827 (GRCm39)	unclassified	probably benign
R1531:Klhl41	UTSW	2	69,501,084 (GRCm39)	missense	probably benign	0.03
R1678:Klhl41	UTSW	2	69,501,283 (GRCm39)	missense	probably benign	0.01
R1792:Klhl41	UTSW	2	69,501,146 (GRCm39)	missense	probably benign	0.01
R1900:Klhl41	UTSW	2	69,504,963 (GRCm39)	splice site	probably benign
R2012:Klhl41	UTSW	2	69,513,840 (GRCm39)	missense	possibly damaging	0.61
R4041:Klhl41	UTSW	2	69,501,054 (GRCm39)	missense	probably benign	0.00
R5223:Klhl41	UTSW	2	69,510,171 (GRCm39)	nonsense	probably null
R5500:Klhl41	UTSW	2	69,513,873 (GRCm39)	missense	probably damaging	1.00
R5643:Klhl41	UTSW	2	69,500,815 (GRCm39)	missense	probably damaging	1.00
R5644:Klhl41	UTSW	2	69,500,815 (GRCm39)	missense	probably damaging	1.00
R5656:Klhl41	UTSW	2	69,513,876 (GRCm39)	missense	possibly damaging	0.89
R6264:Klhl41	UTSW	2	69,510,176 (GRCm39)	critical splice donor site	probably null
R6678:Klhl41	UTSW	2	69,501,188 (GRCm39)	missense	probably benign	0.04
R6731:Klhl41	UTSW	2	69,505,044 (GRCm39)	missense	probably damaging	1.00
R7586:Klhl41	UTSW	2	69,505,068 (GRCm39)	missense	probably benign	0.33
R7664:Klhl41	UTSW	2	69,501,061 (GRCm39)	missense	probably damaging	1.00
R8158:Klhl41	UTSW	2	69,501,505 (GRCm39)	missense	probably damaging	1.00
R8341:Klhl41	UTSW	2	69,500,868 (GRCm39)	missense	probably benign	0.07
X0021:Klhl41	UTSW	2	69,510,050 (GRCm39)	missense	probably damaging	1.00
Z1088:Klhl41	UTSW	2	69,505,074 (GRCm39)	missense	possibly damaging	0.65

Posted On

2015-04-16