Mutagenetix > Incidental Mutation

Incidental Mutation 'R1678:Klhl41'

188243

Institutional Source

Beutler Lab

Gene Symbol

Klhl41

Ensembl Gene

ENSMUSG00000075307

Gene Name

kelch-like 41

Synonyms

LOC228003, Kbtbd10

MMRRC Submission

039714-MU

Accession Numbers

Essential gene?

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

Stock #

R1678 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69670120-69684230 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69670939 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 248 (V248A)

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 benign
Transcript: ENSMUST00000100050
AA Change: V248A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000097627
Gene: ENSMUSG00000075307
AA Change: V248A

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700074P13Rik	C	A	6: 40,929,519		probably benign	Het
4930402H24Rik	A	G	2: 130,814,273	V105A	probably damaging	Het
Abca17	A	C	17: 24,335,620	I120S	probably benign	Het
Abcb5	A	C	12: 118,965,329		probably benign	Het
Abcc4	T	A	14: 118,594,894	T775S	probably benign	Het
Acnat2	T	A	4: 49,380,568	Y270F	probably damaging	Het
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Ankib1	A	G	5: 3,706,301	I548T	probably damaging	Het
Apbb1ip	A	T	2: 22,874,880		probably null	Het
Asb17	C	T	3: 153,844,367	S12F	probably damaging	Het
Atad2b	G	A	12: 4,965,899	V542I	possibly damaging	Het
Atxn7	T	C	14: 14,096,239	F515L	probably damaging	Het
Bicc1	A	G	10: 70,943,518	L680P	probably damaging	Het
Bpifb6	G	A	2: 153,908,642	R351H	probably damaging	Het
C4b	A	G	17: 34,743,650	F26S	probably benign	Het
Cadps	A	G	14: 12,517,802		probably null	Het
Capza1	G	T	3: 104,864,353	S9*	probably null	Het
Ccdc129	G	T	6: 55,968,514	C740F	probably benign	Het
Ccl11	C	T	11: 82,058,040	P25L	probably damaging	Het
Cdyl	A	T	13: 35,856,889	K306N	probably damaging	Het
Cnga3	T	C	1: 37,261,498	V471A	possibly damaging	Het
Col4a4	T	C	1: 82,486,659	K983E	unknown	Het
Cp	A	C	3: 19,972,717	K436N	probably damaging	Het
Csmd1	T	A	8: 15,918,252	D3125V	possibly damaging	Het
Daw1	A	T	1: 83,183,366	N143I	probably damaging	Het
Dmd	T	A	X: 84,974,762	I3067N	probably benign	Het
Dnah11	T	G	12: 117,933,845	N3550T	possibly damaging	Het
Dnm2	T	C	9: 21,467,532	V129A	possibly damaging	Het
Dync1h1	A	T	12: 110,665,662		probably null	Het
Efemp1	G	A	11: 28,916,942	E325K	probably benign	Het
Enox1	A	G	14: 77,577,656	T85A	probably benign	Het
Faim2	C	A	15: 99,520,336	V123F	possibly damaging	Het
Fgfr2	T	C	7: 130,228,620		probably null	Het
Fign	T	C	2: 63,980,374	E184G	probably damaging	Het
Fnd3c2	T	C	X: 106,237,699	T799A	probably benign	Het
Frem2	T	C	3: 53,519,938	D2931G	probably damaging	Het
Fsip2	A	G	2: 82,986,345	T4141A	probably benign	Het
Gigyf2	T	A	1: 87,416,983	M546K	probably benign	Het
Gm21775	G	A	Y: 10,553,867	V139M	probably damaging	Het
Gpr83	G	T	9: 14,866,849	V172F	probably damaging	Het
Jmjd4	A	G	11: 59,453,612	Y179C	probably damaging	Het
Kcnq3	A	G	15: 66,031,432	L143P	probably damaging	Het
Lama1	T	C	17: 67,810,155	Y2482H	possibly damaging	Het
Lamb2	A	T	9: 108,483,686		probably null	Het
Lclat1	G	A	17: 73,196,720	G162R	probably damaging	Het
Map6	T	C	7: 99,268,098	V26A	probably damaging	Het
Mdn1	A	T	4: 32,663,050	D107V	probably damaging	Het
Metap1d	T	A	2: 71,524,777	V304D	possibly damaging	Het
Naca	A	G	10: 128,043,526		probably benign	Het
Napg	T	C	18: 62,984,072		probably null	Het
Nbeal1	T	A	1: 60,260,334	F7L	probably benign	Het
Ndst2	T	C	14: 20,724,514	T825A	probably benign	Het
Nsun2	T	C	13: 69,627,103	I353T	probably damaging	Het
Nt5c3b	T	A	11: 100,436,210	I87F	probably damaging	Het
Nxf3	T	C	X: 136,075,521	D407G	probably damaging	Het
Olfr568	T	A	7: 102,877,663	V181E	probably damaging	Het
Olfr891	A	T	9: 38,180,637	F62Y	possibly damaging	Het
Osbpl3	A	C	6: 50,336,213		probably null	Het
P2rx3	T	C	2: 85,022,467	T172A	possibly damaging	Het
Pcdh10	G	T	3: 45,381,881	E877*	probably null	Het
Pcdhb9	A	T	18: 37,401,629	K225N	probably damaging	Het
Plch1	A	G	3: 63,740,694	S419P	probably damaging	Het
Prex2	T	G	1: 11,285,089	I1538S	possibly damaging	Het
Rasl10a	A	G	11: 5,059,815	E121G	possibly damaging	Het
Rbbp8	A	G	18: 11,732,315	T754A	probably benign	Het
Rictor	T	C	15: 6,756,471	V156A	probably benign	Het
Ryr1	A	T	7: 29,116,154	Y104N	probably damaging	Het
Sctr	G	T	1: 120,036,439		probably null	Het
Sptbn2	T	C	19: 4,750,497	Y2247H	probably damaging	Het
Sqle	C	T	15: 59,324,509	R384W	probably damaging	Het
Srcin1	C	A	11: 97,518,644	R1163L	probably damaging	Het
Srp72	A	G	5: 76,980,307	Y125C	probably damaging	Het
Srrm2	T	C	17: 23,818,986	S1535P	probably benign	Het
Sumf2	A	G	5: 129,854,716	E125G	possibly damaging	Het
Tas2r144	A	T	6: 42,215,556	I77F	probably benign	Het
Tcerg1	T	C	18: 42,524,349	S299P	unknown	Het
Tcp1	T	A	17: 12,920,423	N212K	probably benign	Het
Ttc7	G	T	17: 87,361,901	G659C	probably damaging	Het
Ttn	A	T	2: 76,861,559		probably null	Het
Ubtf	A	T	11: 102,308,978	D440E	probably benign	Het
Usp30	A	G	5: 114,121,146	D428G	probably damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,359,988		probably benign	Het
Vmn2r58	G	A	7: 41,864,056	H388Y	probably benign	Het
Wdr60	A	G	12: 116,225,970	S640P	probably damaging	Het
Zbtb49	T	C	5: 38,213,694	D281G	probably damaging	Het
Zfp248	A	G	6: 118,429,804	S174P	probably benign	Het
Zswim9	T	C	7: 13,277,411	T4A	probably benign	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
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'- TCCGTCATTTCAAACGACAGCCTC -3'
(R):5'- TGCAGCCGTGTCATTGACCAAG -3'

Sequencing Primer
(F):5'- ACGACAGCCTCAACGTAG -3'
(R):5'- CGTGTCATTGACCAAGAGGATG -3'

Posted On

2014-05-09