Mutagenetix > Incidental Mutations

Incidental Mutation 'R0537:Klhl41'

49486

Institutional Source

Beutler Lab

Gene Symbol

Klhl41

Ensembl Gene

ENSMUSG00000075307

Gene Name

kelch-like 41

Synonyms

LOC228003, Kbtbd10

MMRRC Submission

038729-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R0537 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69670120-69684230 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 69670210 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 5 (R5Q)

Ref Sequence

ENSEMBL: ENSMUSP00000097627 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074963] [ENSMUST00000100050] [ENSMUST00000112286] [ENSMUST00000134659]

Predicted Effect

probably benign
Transcript: ENSMUST00000074963

SMART Domains

Protein: ENSMUSP00000074494
Gene: ENSMUSG00000063145

Domain	Start	End	E-Value	Type
Pfam:DUF1448	7	339	6.2e-161	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100050
AA Change: R5Q

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000097627
Gene: ENSMUSG00000075307
AA Change: R5Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000112286

SMART Domains

Protein: ENSMUSP00000107905
Gene: ENSMUSG00000063145

Domain	Start	End	E-Value	Type
Pfam:DUF1448	6	208	1.6e-100	PFAM
Pfam:DUF1448	206	319	9.9e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127806

SMART Domains

Protein: ENSMUSP00000121691
Gene: ENSMUSG00000063145

Domain	Start	End	E-Value	Type
Pfam:DUF1448	22	90	9.9e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134659

SMART Domains

Protein: ENSMUSP00000119377
Gene: ENSMUSG00000063145

Domain	Start	End	E-Value	Type
Pfam:DUF1448	6	88	3.1e-36	PFAM

Meta Mutation Damage Score

0.0582

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

100% (53/53)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	A	T	14: 36,096,700	K218N	probably benign	Het
Acot11	T	C	4: 106,762,455	E156G	probably benign	Het
Arhgef28	A	T	13: 97,957,716	N973K	probably damaging	Het
B4galt3	T	C	1: 171,274,251		probably benign	Het
Bmpr1a	T	C	14: 34,443,812		probably benign	Het
Camkmt	A	T	17: 85,394,659	I184F	probably benign	Het
Ccdc33	T	C	9: 58,117,454	Y163C	probably damaging	Het
Ccdc9	A	G	7: 16,280,776		probably benign	Het
Dars2	A	T	1: 161,060,748	C201S	possibly damaging	Het
Dnajc1	A	T	2: 18,307,956	S194R	possibly damaging	Het
Dock8	A	G	19: 25,171,577	D1473G	probably benign	Het
Dpm2	T	A	2: 32,572,949		probably null	Het
Dsg4	T	C	18: 20,458,571	S456P	probably damaging	Het
Gm10260	A	T	13: 97,760,563	F9Y	probably benign	Het
Gys1	T	C	7: 45,440,001	S195P	probably damaging	Het
Heatr6	G	T	11: 83,779,464	E948*	probably null	Het
Itgal	G	A	7: 127,311,273	R518Q	possibly damaging	Het
Klhdc8b	G	C	9: 108,449,223	R158G	possibly damaging	Het
Lrrtm4	A	T	6: 80,022,120	T172S	probably benign	Het
Lypd1	A	G	1: 125,912,867		probably benign	Het
Mei1	T	C	15: 82,091,361	F121S	possibly damaging	Het
Mtor	C	T	4: 148,538,360	R1966W	probably damaging	Het
Myh7	A	G	14: 54,990,799	F247L	possibly damaging	Het
Nebl	G	T	2: 17,404,215	D392E	possibly damaging	Het
Notch2	C	A	3: 98,116,741	N840K	possibly damaging	Het
Nubp1	T	C	16: 10,422,814		probably benign	Het
Olfr1140	A	T	2: 87,746,673	Q159L	probably benign	Het
Olfr832	T	C	9: 18,945,148	S167P	probably damaging	Het
Pcdh17	T	A	14: 84,447,457	S455T	probably damaging	Het
Picalm	C	A	7: 90,130,668	H32Q	probably benign	Het
Pold1	T	C	7: 44,535,092	E828G	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rala	A	T	13: 17,888,648	N119K	probably benign	Het
Rasal2	A	T	1: 157,147,792	V1149E	possibly damaging	Het
Rd3	A	G	1: 191,983,540	Y92C	probably damaging	Het
Sart1	A	T	19: 5,381,724	D635E	probably damaging	Het
Sec16b	A	G	1: 157,537,546	T335A	possibly damaging	Het
Slc11a2	C	T	15: 100,405,798	G185R	probably damaging	Het
Slc2a12	G	A	10: 22,665,068	R274H	probably damaging	Het
Spag17	T	C	3: 100,125,302	V2276A	probably damaging	Het
Tcam1	G	A	11: 106,284,078	E120K	probably benign	Het
Tenm2	T	C	11: 36,163,730	D601G	probably damaging	Het
Tmem168	C	A	6: 13,603,361	C2F	probably damaging	Het
Tmem80	A	G	7: 141,333,696	Y13C	probably damaging	Het
Try4	T	A	6: 41,304,362	N79K	probably benign	Het
Vldlr	C	A	19: 27,247,918	N798K	probably damaging	Het
Wdr41	A	G	13: 94,995,305		probably benign	Het
Zfp30	A	T	7: 29,792,735	E138V	probably damaging	Het
Zfp366	A	C	13: 99,229,278	T316P	probably damaging	Het
Zfp563	A	T	17: 33,104,685	S85C	possibly damaging	Het
Znfx1	T	C	2: 167,041,701	H162R	probably damaging	Het

Other mutations in Klhl41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01316:Klhl41	APN	2	69674724	missense	probably benign	0.00
IGL01622:Klhl41	APN	2	69678238	missense	probably benign	0.05
IGL01623:Klhl41	APN	2	69678238	missense	probably benign	0.05
IGL03237:Klhl41	APN	2	69670558	missense	possibly damaging	0.94
R0220:Klhl41	UTSW	2	69670485	missense	probably benign	0.25
R0277:Klhl41	UTSW	2	69671296	missense	probably damaging	1.00
R0456:Klhl41	UTSW	2	69670549	missense	probably damaging	0.99
R0485:Klhl41	UTSW	2	69671256	missense	probably damaging	0.97
R0536:Klhl41	UTSW	2	69670210	missense	probably benign	0.04
R0552:Klhl41	UTSW	2	69670210	missense	probably benign	0.04
R0553:Klhl41	UTSW	2	69670210	missense	probably benign	0.04
R0834:Klhl41	UTSW	2	69678147	missense	possibly damaging	0.76
R0879:Klhl41	UTSW	2	69683483	unclassified	probably benign
R1531:Klhl41	UTSW	2	69670740	missense	probably benign	0.03
R1678:Klhl41	UTSW	2	69670939	missense	probably benign	0.01
R1792:Klhl41	UTSW	2	69670802	missense	probably benign	0.01
R1900:Klhl41	UTSW	2	69674619	splice site	probably benign
R2012:Klhl41	UTSW	2	69683496	missense	possibly damaging	0.61
R4041:Klhl41	UTSW	2	69670710	missense	probably benign	0.00
R5223:Klhl41	UTSW	2	69679827	nonsense	probably null
R5500:Klhl41	UTSW	2	69683529	missense	probably damaging	1.00
R5643:Klhl41	UTSW	2	69670471	missense	probably damaging	1.00
R5644:Klhl41	UTSW	2	69670471	missense	probably damaging	1.00
R5656:Klhl41	UTSW	2	69683532	missense	possibly damaging	0.89
R6264:Klhl41	UTSW	2	69679832	critical splice donor site	probably null
R6678:Klhl41	UTSW	2	69670844	missense	probably benign	0.04
R6731:Klhl41	UTSW	2	69674700	missense	probably damaging	1.00
R7586:Klhl41	UTSW	2	69674724	missense	probably benign	0.33
R7664:Klhl41	UTSW	2	69670717	missense	probably damaging	1.00
R8158:Klhl41	UTSW	2	69671161	missense	probably damaging	1.00
R8341:Klhl41	UTSW	2	69670524	missense	probably benign	0.07
X0021:Klhl41	UTSW	2	69679706	missense	probably damaging	1.00
Z1088:Klhl41	UTSW	2	69674730	missense	possibly damaging	0.65

Predicted Primers

PCR Primer
(F):5'- AGCTGAACAGCAGCACTCCTTTCC -3'
(R):5'- ATCCACGTTGTCTAGGGCTACCTC -3'

Sequencing Primer
(F):5'- CCTAAATTCCCGTTGTTAGAGC -3'
(R):5'- GTCTAGGGCTACCTCCTTTTTTTTC -3'

Posted On

2013-06-12