Mutagenetix > Incidental Mutation

Incidental Mutation 'R9650:Klhl40'

727040

Institutional Source

Beutler Lab

Gene Symbol

Klhl40

Ensembl Gene

ENSMUSG00000074001

Gene Name

kelch-like 40

Synonyms

2310024D23Rik, Kbtbd5

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R9650 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121606673-121612884 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121609083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 416 (V416E)

Ref Sequence

ENSEMBL: ENSMUSP00000095873 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035110] [ENSMUST00000098272] [ENSMUST00000163981]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035110

SMART Domains

Protein: ENSMUSP00000035110
Gene: ENSMUSG00000032523

Domain	Start	End	E-Value	Type
transmembrane domain	12	31	N/A	INTRINSIC
Pfam:MBOAT	63	448	2.7e-15	PFAM
transmembrane domain	460	482	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098272
AA Change: V416E

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095873
Gene: ENSMUSG00000074001
AA Change: V416E

Domain	Start	End	E-Value	Type
BTB	33	128	4.61e-29	SMART
BACK	133	239	9.46e-30	SMART
low complexity region	262	276	N/A	INTRINSIC
Blast:BTB	300	355	2e-27	BLAST
Kelch	360	412	1.77e0	SMART
Kelch	413	462	1.29e-2	SMART
Kelch	463	510	4.68e-9	SMART
Kelch	511	557	2.06e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163981

SMART Domains

Protein: ENSMUSP00000131971
Gene: ENSMUSG00000032523

Domain	Start	End	E-Value	Type
transmembrane domain	12	31	N/A	INTRINSIC
transmembrane domain	65	87	N/A	INTRINSIC
Pfam:MBOAT	97	444	3.7e-16	PFAM
transmembrane domain	460	482	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygous disruption of this gene results in postnatal growth retardation, abnormal sarcomere morphology, skeletal muscle dysfunction, and complete postnatal lethality. Homozygotes for a null allele develop a nemaline-like myopathy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,071,446 (GRCm39)	N1469Y	probably benign	Het
Actl10	T	A	2: 154,394,682 (GRCm39)	N211K	probably benign	Het
Adam33	C	T	2: 130,894,989 (GRCm39)	V690M	possibly damaging	Het
Agap2	G	A	10: 126,927,653 (GRCm39)	R1178H	unknown	Het
Ank2	T	A	3: 126,735,829 (GRCm39)	T3352S	unknown	Het
BC005537	T	A	13: 24,986,122 (GRCm39)	D7E	unknown	Het
Bptf	T	C	11: 106,935,412 (GRCm39)	M142V	probably benign	Het
Cox15	A	G	19: 43,735,318 (GRCm39)	Y150H	probably benign	Het
Cpq	A	T	15: 33,497,405 (GRCm39)	I382F	possibly damaging	Het
Cps1	T	C	1: 67,254,636 (GRCm39)	F1275S		Het
Cs	T	A	10: 128,196,856 (GRCm39)	M417K	probably benign	Het
Cyp2b19	G	A	7: 26,466,208 (GRCm39)	R337Q	possibly damaging	Het
Dmgdh	A	T	13: 93,845,333 (GRCm39)	Y442F	probably benign	Het
Dync2h1	A	T	9: 7,174,849 (GRCm39)	D131E	possibly damaging	Het
Epb41l2	A	G	10: 25,369,495 (GRCm39)	I605V	probably benign	Het
Evc	G	A	5: 37,458,162 (GRCm39)	P963L	probably damaging	Het
Evl	C	A	12: 108,641,698 (GRCm39)	T160N	probably benign	Het
Fam76a	T	C	4: 132,629,387 (GRCm39)	Y255C	probably damaging	Het
Fras1	G	T	5: 96,910,387 (GRCm39)	R3272L	probably damaging	Het
Fry	T	C	5: 150,369,375 (GRCm39)	V2283A	probably damaging	Het
Fzd6	A	G	15: 38,894,941 (GRCm39)	Y369C	probably damaging	Het
Hip1r	T	C	5: 124,135,357 (GRCm39)		probably null	Het
Hps5	A	G	7: 46,425,354 (GRCm39)	S449P	probably damaging	Het
Ighv1-34	G	T	12: 114,814,885 (GRCm39)	D92E	possibly damaging	Het
Iigp1c	T	G	18: 60,379,470 (GRCm39)	V335G	probably damaging	Het
Ino80	C	T	2: 119,277,464 (GRCm39)	R337Q	probably damaging	Het
Itgax	T	C	7: 127,734,935 (GRCm39)	I422T	probably benign	Het
Itk	A	T	11: 46,222,778 (GRCm39)	Y564N	probably damaging	Het
Kcnh5	A	C	12: 75,023,293 (GRCm39)	S592A	probably benign	Het
Lhfpl4	T	C	6: 113,171,147 (GRCm39)	E13G	probably benign	Het
Mid1	C	G	X: 168,768,003 (GRCm39)	P384A	probably benign	Het
Muc16	A	T	9: 18,553,762 (GRCm39)	M4177K	unknown	Het
Ngef	T	A	1: 87,415,552 (GRCm39)	T371S	possibly damaging	Het
Nutm2	A	T	13: 50,623,755 (GRCm39)	T151S	probably benign	Het
Or4c109	A	T	2: 88,818,006 (GRCm39)	L180*	probably null	Het
Or51f2	T	C	7: 102,526,987 (GRCm39)	I220T	probably damaging	Het
Pate13	A	C	9: 35,820,799 (GRCm39)	M84L	probably benign	Het
Pcdhga8	T	A	18: 37,860,519 (GRCm39)	I525K	probably benign	Het
Pcx	C	T	19: 4,657,714 (GRCm39)	R394C	probably damaging	Het
Pnmt	A	T	11: 98,278,262 (GRCm39)	D112V	probably damaging	Het
Rnf115	C	T	3: 96,665,337 (GRCm39)	T69I	probably damaging	Het
Rrp7a	A	T	15: 83,004,091 (GRCm39)		probably null	Het
Senp1	A	T	15: 97,946,248 (GRCm39)	M499K	probably damaging	Het
Serpina3f	G	A	12: 104,186,519 (GRCm39)	A362T	possibly damaging	Het
Slc29a3	T	A	10: 60,586,302 (GRCm39)	I55F	possibly damaging	Het
Stab2	ACC	AC	10: 86,692,561 (GRCm39)		probably null	Het
Tln1	G	A	4: 43,545,912 (GRCm39)	T901I	probably damaging	Het
Tmem102	T	C	11: 69,695,869 (GRCm39)	K64R	probably benign	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Tnxb	G	A	17: 34,930,629 (GRCm39)	V2105I	probably damaging	Het
Traf2	A	C	2: 25,410,454 (GRCm39)	C391W	probably damaging	Het
Tubgcp3	A	G	8: 12,705,974 (GRCm39)	S183P	probably benign	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Usp2	C	A	9: 44,000,476 (GRCm39)	N288K	probably damaging	Het
Utrn	T	C	10: 12,613,929 (GRCm39)	T381A	probably benign	Het
Vil1	C	T	1: 74,464,775 (GRCm39)	P474L	probably benign	Het
Wasf2	T	A	4: 132,917,457 (GRCm39)	N185K	unknown	Het
Zfp865	A	G	7: 5,037,683 (GRCm39)	M45V	unknown	Het

Other mutations in Klhl40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01391:Klhl40	APN	9	121,607,983 (GRCm39)	missense	probably damaging	1.00
IGL02123:Klhl40	APN	9	121,608,989 (GRCm39)	missense	probably benign	0.01
IGL03059:Klhl40	APN	9	121,607,203 (GRCm39)	missense	probably damaging	1.00
IGL03124:Klhl40	APN	9	121,609,751 (GRCm39)	missense	probably damaging	1.00
IGL03204:Klhl40	APN	9	121,611,696 (GRCm39)	missense	probably benign	0.03
IGL03366:Klhl40	APN	9	121,612,446 (GRCm39)	missense	probably damaging	1.00
R0506:Klhl40	UTSW	9	121,607,133 (GRCm39)	missense	probably damaging	0.98
R1735:Klhl40	UTSW	9	121,609,004 (GRCm39)	missense	probably benign	0.00
R2430:Klhl40	UTSW	9	121,609,667 (GRCm39)	missense	possibly damaging	0.57
R3685:Klhl40	UTSW	9	121,611,724 (GRCm39)	missense	probably damaging	1.00
R3839:Klhl40	UTSW	9	121,609,482 (GRCm39)	missense	possibly damaging	0.93
R3929:Klhl40	UTSW	9	121,609,742 (GRCm39)	missense	probably benign
R4326:Klhl40	UTSW	9	121,607,956 (GRCm39)	missense	probably benign	0.37
R4328:Klhl40	UTSW	9	121,607,956 (GRCm39)	missense	probably benign	0.37
R4664:Klhl40	UTSW	9	121,609,799 (GRCm39)	missense	probably damaging	1.00
R4697:Klhl40	UTSW	9	121,607,800 (GRCm39)	missense	probably damaging	1.00
R5228:Klhl40	UTSW	9	121,606,867 (GRCm39)	missense	probably benign	0.02
R6198:Klhl40	UTSW	9	121,607,833 (GRCm39)	missense	probably damaging	1.00
R6258:Klhl40	UTSW	9	121,607,026 (GRCm39)	missense	probably damaging	1.00
R7992:Klhl40	UTSW	9	121,607,748 (GRCm39)	missense	probably damaging	1.00
R8171:Klhl40	UTSW	9	121,607,623 (GRCm39)	missense	probably benign	0.14
R8544:Klhl40	UTSW	9	121,607,892 (GRCm39)	missense	probably damaging	0.99
R8669:Klhl40	UTSW	9	121,607,088 (GRCm39)	missense	probably benign	0.01
R8838:Klhl40	UTSW	9	121,609,107 (GRCm39)	missense	probably benign
R9239:Klhl40	UTSW	9	121,607,637 (GRCm39)	missense	probably benign	0.06
R9261:Klhl40	UTSW	9	121,609,002 (GRCm39)	missense	probably benign
R9402:Klhl40	UTSW	9	121,609,482 (GRCm39)	missense	possibly damaging	0.93
R9671:Klhl40	UTSW	9	121,607,743 (GRCm39)	missense	probably benign
Z1177:Klhl40	UTSW	9	121,609,759 (GRCm39)	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- GGGAAACTTGGCTGATCTGG -3'
(R):5'- CCTCTGCTCAAGGATTATTTTCAGG -3'

Sequencing Primer
(F):5'- ATCTGGGCCAGGAGGTG -3'
(R):5'- AGGTCTTCACCCAATGGCTGTG -3'

Posted On

2022-10-06