Mutagenetix > Incidental Mutation

Incidental Mutation 'R5644:Klhl41'

440927

Institutional Source

Beutler Lab

Gene Symbol

Klhl41

Ensembl Gene

ENSMUSG00000075307

Gene Name

kelch-like 41

Synonyms

LOC228003, Kbtbd10

MMRRC Submission

043292-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R5644 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69670120-69684230 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69670471 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 92 (Y92C)

Ref Sequence

ENSEMBL: ENSMUSP00000097627 (fasta)

Gene Model

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

AlphaFold

A2AUC9

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 damaging
Transcript: ENSMUST00000100050
AA Change: Y92C

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

SMART Domains

Protein: ENSMUSP00000097627
Gene: ENSMUSG00000075307
AA Change: Y92C

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

0.9474

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	A	T	10: 14,432,934	D805E	probably damaging	Het
Adrb2	A	T	18: 62,178,682	N357K	probably benign	Het
Ahnak	A	G	19: 9,010,657	K3102E	possibly damaging	Het
Alkal2	T	A	12: 30,884,890	L36Q	probably damaging	Het
Alkbh8	G	T	9: 3,385,384	V559F	probably damaging	Het
Apba2	A	G	7: 64,715,511	T346A	probably benign	Het
Arhgap10	C	T	8: 77,411,055	M302I	probably benign	Het
Asah1	G	T	8: 41,360,295	T27K	possibly damaging	Het
Bag2	A	G	1: 33,746,953	V96A	probably damaging	Het
Bicd1	C	T	6: 149,520,403	A874V	probably damaging	Het
C4b	T	C	17: 34,742,417	I189M	probably benign	Het
Cacna1a	A	G	8: 84,462,777	Y119C	probably damaging	Het
Calcr	A	G	6: 3,708,538	I216T	probably damaging	Het
Ccar1	T	C	10: 62,771,978	N302S	probably benign	Het
Ccdc93	A	G	1: 121,483,336	H446R	probably benign	Het
Cct6b	A	T	11: 82,722,455	L420Q	probably benign	Het
Cemip	T	C	7: 83,989,184	T273A	probably benign	Het
Cep128	A	T	12: 91,348,851	I87K	probably damaging	Het
Cfap221	A	G	1: 119,932,802	L698P	probably damaging	Het
Cfap43	T	A	19: 47,795,675	N473I	possibly damaging	Het
Clec12b	T	A	6: 129,379,960	I172L	probably benign	Het
Cntnap5b	A	C	1: 100,383,601	E606D	probably benign	Het
Cyp2c67	A	C	19: 39,615,694	V406G	possibly damaging	Het
Dhx57	T	C	17: 80,238,873	I1308V	possibly damaging	Het
Dnah7a	A	T	1: 53,540,979	M1599K	probably benign	Het
Dnajc21	A	T	15: 10,461,915	D133E	probably benign	Het
Dpp8	G	A	9: 65,045,735	W231*	probably null	Het
Dvl3	T	A	16: 20,526,276	I353N	probably damaging	Het
Fgd6	T	A	10: 94,134,050	I1187N	possibly damaging	Het
Fn1	A	T	1: 71,627,250	Y875N	probably damaging	Het
Gaa	T	A	11: 119,280,535	M671K	possibly damaging	Het
Gm11939	T	C	11: 99,559,312	D52G	probably damaging	Het
Gm14403	A	T	2: 177,507,261	H50L	possibly damaging	Het
Gpam	A	T	19: 55,088,899	D153E	probably benign	Het
Gzma	T	C	13: 113,098,260	T66A	probably damaging	Het
Hnmt	A	T	2: 24,014,239	W137R	probably damaging	Het
Hsd17b7	A	T	1: 169,955,948	V297D	probably damaging	Het
Ighv1-85	A	T	12: 116,000,060	S107T	possibly damaging	Het
Kif12	T	A	4: 63,165,893	Q624L	possibly damaging	Het
Kif1b	T	C	4: 149,238,482	D660G	probably damaging	Het
Klf13	T	C	7: 63,891,560		probably benign	Het
Klrc2	A	T	6: 129,656,457	C186S	probably damaging	Het
Lao1	T	A	4: 118,965,236		probably null	Het
Lmo7	A	G	14: 101,929,336		probably benign	Het
Lyst	A	T	13: 13,637,496	Q831L	possibly damaging	Het
Lzts1	A	G	8: 69,139,077	S140P	possibly damaging	Het
Man2b1	T	A	8: 85,094,210	I679N	possibly damaging	Het
Mgat5b	T	A	11: 116,973,400	V464E	probably damaging	Het
Mrgprb5	G	A	7: 48,168,207	T260I	probably benign	Het
Mybpc2	T	C	7: 44,507,053	T825A	probably benign	Het
Mycbp2	T	A	14: 103,287,334	K597I	probably damaging	Het
Naalad2	G	T	9: 18,334,931	N568K	possibly damaging	Het
Neurl1a	A	G	19: 47,179,477	N4S	probably benign	Het
Nfx1	T	C	4: 40,984,973	W366R	probably null	Het
Nipbl	C	T	15: 8,358,907	V410I	probably benign	Het
Nlrp9a	A	T	7: 26,558,568	H537L	possibly damaging	Het
Nxpe4	A	G	9: 48,392,750	N46D	probably benign	Het
Olfr1037	T	C	2: 86,085,159	N206S	probably damaging	Het
Olfr116	T	A	17: 37,624,432	I68F	probably benign	Het
Olfr1188	T	A	2: 88,559,505	M1K	probably null	Het
Olfr1313	A	T	2: 112,071,668	M305K	probably benign	Het
Olfr1443	A	T	19: 12,680,972	Y288F	probably damaging	Het
Olfr290	C	A	7: 84,916,119	F113L	probably benign	Het
Olfr482	A	T	7: 108,094,804	Y255*	probably null	Het
Olfr484	A	G	7: 108,124,651	F204S	probably benign	Het
Olfr791	A	T	10: 129,527,103	N292I	probably damaging	Het
Olfr813	T	A	10: 129,857,427	V303E	probably benign	Het
P2ry12	A	T	3: 59,218,095	M53K	possibly damaging	Het
Pcca	G	A	14: 122,887,069	C684Y	probably damaging	Het
Pdzd7	A	G	19: 45,040,180	S175P	probably benign	Het
Pgbd1	A	G	13: 21,423,152	C291R	probably damaging	Het
Plekhg5	T	C	4: 152,104,340	V200A	probably benign	Het
Pola2	A	G	19: 5,961,170	V42A	probably benign	Het
Pramef25	C	T	4: 143,948,804	G484D	probably benign	Het
Prkcd	C	A	14: 30,607,413	K23N	probably benign	Het
Ptdss1	T	C	13: 66,972,540	F267L	probably damaging	Het
Rad54l	C	T	4: 116,098,947	S561N	probably benign	Het
Rai14	T	A	15: 10,593,051	H169L	probably benign	Het
Rfc3	C	T	5: 151,649,979	V40I	probably benign	Het
Rpl31	C	T	1: 39,370,027	R41C	probably benign	Het
Rtl1	C	T	12: 109,591,579	M1275I	probably benign	Het
Ryr2	C	A	13: 11,595,582	E4119D	probably damaging	Het
Senp7	T	C	16: 56,184,149		silent	Het
Sfmbt2	A	T	2: 10,568,373	I571F	probably damaging	Het
Sit1	T	A	4: 43,483,562	T8S	probably benign	Het
Slc22a30	T	C	19: 8,404,616	H97R	possibly damaging	Het
Slco1a5	A	C	6: 142,237,594		probably null	Het
Smc6	T	A	12: 11,289,994	N434K	probably benign	Het
Snap91	G	T	9: 86,790,153		probably null	Het
Srsf10	T	C	4: 135,863,820	S194P	possibly damaging	Het
St14	T	C	9: 31,106,510	M205V	probably benign	Het
Syndig1	A	T	2: 149,899,508	I5F	possibly damaging	Het
Tbrg1	T	C	9: 37,649,413	D389G	probably benign	Het
Tcaf2	G	A	6: 42,642,773	R107C	possibly damaging	Het
Tpmt	T	A	13: 47,028,959	D163V	probably benign	Het
Trim15	T	C	17: 36,866,821	E94G	probably damaging	Het
Trit1	T	C	4: 123,049,172	I279T	probably damaging	Het
Trpm8	T	A	1: 88,359,739	F815I	possibly damaging	Het
Ttn	T	A	2: 76,938,523	T2856S	probably damaging	Het
Ugdh	A	T	5: 65,416,861	D446E	probably benign	Het
Unc5c	C	T	3: 141,678,125	A88V	probably damaging	Het
Vmn1r43	T	C	6: 89,870,372	N44S	probably damaging	Het
Vmn2r120	T	A	17: 57,524,977	M271L	probably benign	Het
Wdr74	T	A	19: 8,737,876	V133E	probably damaging	Het
Zfp607b	T	C	7: 27,703,769	L550P	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
R0537: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
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'- CAGGATGGTCTAAAAGATCTCCTGG -3'
(R):5'- AAATGGCAAGTCTCGGGCAG -3'

Sequencing Primer
(F):5'- GTTCATCGATTGCACCCTAAAAG -3'
(R):5'- TCGGGCAGTCGAGAAGC -3'

Posted On

2016-11-08