Mutagenetix > Incidental Mutation

Incidental Mutation 'R8158:Klhl41'

633344

Institutional Source

Beutler Lab

Gene Symbol

Klhl41

Ensembl Gene

ENSMUSG00000075307

Gene Name

kelch-like 41

Synonyms

Kbtbd10, LOC228003

MMRRC Submission

067584-MU

Accession Numbers

Essential gene?

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

Stock #

R8158 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69500464-69514574 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69501505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 322 (N322I)

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: N322I

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

SMART Domains

Protein: ENSMUSP00000097627
Gene: ENSMUSG00000075307
AA Change: N322I

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	A	1: 156,469,639 (GRCm39)	S968T	probably benign	Het
Adcy8	T	C	15: 64,655,655 (GRCm39)	D608G	probably benign	Het
Adgb	C	T	10: 10,254,478 (GRCm39)	V1162M	probably benign	Het
Agrn	A	G	4: 156,258,346 (GRCm39)	V1040A	probably benign	Het
Amer3	A	T	1: 34,626,741 (GRCm39)	T327S	possibly damaging	Het
Apaf1	C	T	10: 90,895,520 (GRCm39)	C426Y	probably benign	Het
Bsn	T	C	9: 107,987,232 (GRCm39)	D2840G	unknown	Het
Camsap1	A	T	2: 25,834,440 (GRCm39)	C406*	probably null	Het
Cbr2	A	T	11: 120,621,123 (GRCm39)	M158K	probably damaging	Het
Cgrrf1	T	C	14: 47,091,192 (GRCm39)	S239P	probably benign	Het
Clnk	C	A	5: 38,952,254 (GRCm39)		probably null	Het
Csad	T	C	15: 102,086,197 (GRCm39)	M445V	probably damaging	Het
Dnajb7	T	A	15: 81,291,600 (GRCm39)	N246Y	probably damaging	Het
Dok6	T	C	18: 89,492,071 (GRCm39)	I169V	probably benign	Het
H2bc14	T	C	13: 21,906,631 (GRCm39)	Y122H	probably benign	Het
Il1f10	T	G	2: 24,181,267 (GRCm39)	I11R	possibly damaging	Het
Irs1	C	T	1: 82,267,254 (GRCm39)	V321M	probably damaging	Het
Itga9	T	C	9: 118,706,211 (GRCm39)	F938L	probably damaging	Het
Kif7	T	C	7: 79,354,442 (GRCm39)	D781G	probably damaging	Het
Krtap31-1	T	G	11: 99,798,901 (GRCm39)	C35G	possibly damaging	Het
Lsm11	A	T	11: 45,824,824 (GRCm39)	D234E	probably benign	Het
Med6	T	C	12: 81,620,677 (GRCm39)	K223R	probably benign	Het
Mfsd4b2	G	A	10: 39,798,064 (GRCm39)	T97I	probably benign	Het
Mrgpra1	A	T	7: 46,985,204 (GRCm39)	C158*	probably null	Het
Nr2e1	T	C	10: 42,458,881 (GRCm39)	T8A	probably benign	Het
Oas2	T	C	5: 120,887,838 (GRCm39)	M1V	probably null	Het
Or13a27	T	C	7: 139,925,162 (GRCm39)	I247V	probably benign	Het
Or14a260	T	A	7: 85,984,885 (GRCm39)	I240F	probably benign	Het
Or1e33	T	A	11: 73,738,697 (GRCm39)	M85L	probably benign	Het
Or8k17	T	C	2: 86,066,504 (GRCm39)	Y218C	probably damaging	Het
Or8w1	T	A	2: 87,465,233 (GRCm39)	N286I	probably damaging	Het
Otof	C	T	5: 30,537,538 (GRCm39)	G1257D	probably benign	Het
Phf2	T	C	13: 48,971,236 (GRCm39)	T479A	probably benign	Het
Pik3c2a	T	C	7: 115,942,232 (GRCm39)	N1516S	probably benign	Het
Qrich1	C	A	9: 108,433,236 (GRCm39)	T622K	probably damaging	Het
Rasip1	A	G	7: 45,281,943 (GRCm39)	K482R	probably damaging	Het
Rgl2	T	C	17: 34,155,918 (GRCm39)	F698L	probably benign	Het
Scarb1	T	C	5: 125,380,201 (GRCm39)	D124G	probably benign	Het
Sclt1	A	G	3: 41,625,917 (GRCm39)	I350T	probably benign	Het
Sec23ip	T	G	7: 128,369,364 (GRCm39)	V696G	probably damaging	Het
Serpina1e	G	T	12: 103,917,354 (GRCm39)	T105K	probably benign	Het
Sin3a	A	G	9: 57,020,828 (GRCm39)		probably null	Het
Slc34a2	A	G	5: 53,218,182 (GRCm39)	T154A	probably damaging	Het
Slc9a3	T	C	13: 74,303,241 (GRCm39)	L178P	probably damaging	Het
Smarca2	A	C	19: 26,659,448 (GRCm39)	I913L	probably benign	Het
Spaca7b	T	A	8: 11,715,056 (GRCm39)	D46V	probably damaging	Het
Tcea3	G	A	4: 136,001,027 (GRCm39)		probably null	Het
Tektl1	G	C	10: 78,584,509 (GRCm39)	Q338E	probably benign	Het
Tmcc1	T	A	6: 116,020,435 (GRCm39)	H339L		Het
Trpm2	G	T	10: 77,783,731 (GRCm39)	H247Q	probably damaging	Het
Tyr	T	A	7: 87,121,724 (GRCm39)	D356V	probably damaging	Het
Vmn2r54	A	T	7: 12,349,888 (GRCm39)	C565S	probably damaging	Het
Vmn2r82	A	C	10: 79,213,636 (GRCm39)	N74T	probably benign	Het
Zcchc4	T	C	5: 52,973,260 (GRCm39)	Y375H	probably damaging	Het
Zfhx3	T	A	8: 109,675,353 (GRCm39)	D2134E	possibly damaging	Het
Zfhx4	T	A	3: 5,464,010 (GRCm39)	Y1414*	probably null	Het
Zfp282	A	T	6: 47,867,626 (GRCm39)	E267D	possibly damaging	Het
Zfp442	A	T	2: 150,251,096 (GRCm39)	C269S	possibly damaging	Het
Zp3	T	A	5: 136,014,418 (GRCm39)	S246T	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
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
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'- TTTTGCAGGCAAACTTCCGG -3'
(R):5'- CATGTGAACAGTATGTAAACACCCC -3'

Sequencing Primer
(F):5'- GGCAAACTTCCGGAACCCAG -3'
(R):5'- TAGCTAATGGTAGTGACCCTCAC -3'

Posted On

2020-06-30