Mutagenetix > Incidental Mutation

Incidental Mutation 'R6264:Klhl41'

506865

Institutional Source

Beutler Lab

Gene Symbol

Klhl41

Ensembl Gene

ENSMUSG00000075307

Gene Name

kelch-like 41

Synonyms

Kbtbd10, LOC228003

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R6264 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69500464-69514574 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 69510176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000097627 (fasta)

Gene Model

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

AlphaFold

A2AUC9

Predicted Effect

probably null
Transcript: ENSMUST00000100050

SMART Domains

Protein: ENSMUSP00000097627
Gene: ENSMUSG00000075307

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

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.1%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,264,824 (GRCm39)	Y175H	probably damaging	Het
Agtpbp1	A	T	13: 59,598,114 (GRCm39)	V1165D	possibly damaging	Het
Ahsg	A	G	16: 22,717,611 (GRCm39)	D224G	probably benign	Het
Akap11	T	C	14: 78,749,861 (GRCm39)	D842G	possibly damaging	Het
Anln	T	C	9: 22,245,413 (GRCm39)	N186D	possibly damaging	Het
Aqr	A	G	2: 113,940,445 (GRCm39)	Y1234H	probably damaging	Het
Ccdc162	A	G	10: 41,570,464 (GRCm39)	F7S	probably benign	Het
Cltc	T	C	11: 86,596,084 (GRCm39)	Y1222C	probably damaging	Het
Coro2a	C	T	4: 46,562,912 (GRCm39)	V81I	probably damaging	Het
Cpa5	T	C	6: 30,613,984 (GRCm39)	V42A	probably damaging	Het
D2hgdh	A	G	1: 93,754,177 (GRCm39)	Y50C	probably damaging	Het
Ddx6	A	G	9: 44,540,049 (GRCm39)	N326D	probably damaging	Het
Dedd2	A	G	7: 24,903,215 (GRCm39)	L248P	possibly damaging	Het
Frem3	T	A	8: 81,341,832 (GRCm39)	I1375N	probably damaging	Het
Gm12185	T	C	11: 48,807,002 (GRCm39)	N63S	probably benign	Het
H2-Aa	A	G	17: 34,502,172 (GRCm39)	S250P	probably damaging	Het
Hbs1l	T	C	10: 21,243,656 (GRCm39)	S667P	possibly damaging	Het
Hc	T	A	2: 34,896,285 (GRCm39)		probably null	Het
Hoxd4	A	T	2: 74,557,729 (GRCm39)	Y36F	possibly damaging	Het
Ifi207	A	G	1: 173,555,111 (GRCm39)	V864A	probably damaging	Het
Igsf10	T	A	3: 59,235,928 (GRCm39)	T1418S	possibly damaging	Het
Lman2l	T	C	1: 36,477,850 (GRCm39)	N162S	probably damaging	Het
Lrr1	T	G	12: 69,215,655 (GRCm39)	V9G	probably damaging	Het
Marchf5	T	C	19: 37,198,140 (GRCm39)	I127T	probably damaging	Het
Med12l	T	C	3: 59,163,423 (GRCm39)	L1350P	probably damaging	Het
Mmp25	G	A	17: 23,849,768 (GRCm39)	A541V	possibly damaging	Het
Myh10	T	A	11: 68,636,241 (GRCm39)	I210N	probably benign	Het
Myo5c	A	G	9: 75,182,836 (GRCm39)	N825S	probably benign	Het
Nav3	T	C	10: 109,524,694 (GRCm39)	T2312A	probably damaging	Het
Ndrg4	G	T	8: 96,436,396 (GRCm39)	R208L	probably damaging	Het
Nell2	G	A	15: 95,244,706 (GRCm39)	P464S	probably damaging	Het
Nrxn3	T	A	12: 90,299,011 (GRCm39)	Y374N	probably damaging	Het
Oprd1	A	C	4: 131,841,365 (GRCm39)	C198G	possibly damaging	Het
Pik3ca	T	C	3: 32,494,863 (GRCm39)		probably null	Het
Plin4	T	G	17: 56,411,787 (GRCm39)	D748A	possibly damaging	Het
Pramel23	T	G	4: 143,425,722 (GRCm39)	T74P	possibly damaging	Het
Prkg2	T	G	5: 99,082,223 (GRCm39)	K52Q	probably benign	Het
Ptprk	A	T	10: 28,442,669 (GRCm39)	E890D	probably damaging	Het
Rab27b	T	C	18: 70,122,659 (GRCm39)	D100G	probably damaging	Het
Ranbp6	T	C	19: 29,790,026 (GRCm39)	T109A	probably benign	Het
Rarb	T	A	14: 16,818,819 (GRCm38)	M17L	probably benign	Het
Rasgrf2	T	C	13: 92,167,293 (GRCm39)	H260R	probably damaging	Het
Rec8	T	A	14: 55,856,636 (GRCm39)	D109E	probably damaging	Het
Scd4	C	A	19: 44,327,398 (GRCm39)	S158*	probably null	Het
Scn7a	T	A	2: 66,505,870 (GRCm39)	E1673V	possibly damaging	Het
Sit1	A	T	4: 43,482,651 (GRCm39)	D169E	possibly damaging	Het
Slc16a14	G	T	1: 84,885,130 (GRCm39)	Q470K	probably benign	Het
Slc43a2	T	A	11: 75,457,900 (GRCm39)	C392S	possibly damaging	Het
Smg1	A	G	7: 117,765,310 (GRCm39)		probably benign	Het
Sstr2	A	T	11: 113,515,932 (GRCm39)	I284F	probably damaging	Het
Tep1	C	T	14: 51,082,970 (GRCm39)	V1013M	probably damaging	Het
Tmem120b	T	G	5: 123,253,763 (GRCm39)	L232R	probably damaging	Het
Tmem9b	C	A	7: 109,344,612 (GRCm39)	V75F	probably damaging	Het
Trappc3	A	G	4: 126,167,731 (GRCm39)	S97G	probably damaging	Het
Ube3c	T	C	5: 29,795,829 (GRCm39)	F73L	probably damaging	Het
Vmn1r127	C	A	7: 21,052,930 (GRCm39)	C286F	probably benign	Het
Vmn1r44	T	C	6: 89,870,652 (GRCm39)	S133P	probably benign	Het
Vps8	C	T	16: 21,378,099 (GRCm39)	Q635*	probably null	Het
Vwa8	A	G	14: 79,324,252 (GRCm39)	E1185G	possibly damaging	Het
Zfp354c	G	A	11: 50,706,274 (GRCm39)	T267I	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
IGL01623: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
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

Predicted Primers

PCR Primer
(F):5'- GACTGGATAGTAAGGGTAAATGCTCC -3'
(R):5'- CAGCTAATCACAAATACTTGGTCAG -3'

Sequencing Primer
(F):5'- GACAGATCTCTGAGTTCCAGGAC -3'
(R):5'- CTTGGTCAGAAAGTTGCATATTCG -3'

Posted On

2018-03-15