Mutagenetix > Incidental Mutation

Incidental Mutation 'R0506:Klhl40'

47595

Institutional Source

Beutler Lab

Gene Symbol

Klhl40

Ensembl Gene

ENSMUSG00000074001

Gene Name

kelch-like 40

Synonyms

2310024D23Rik, Kbtbd5

MMRRC Submission

038701-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R0506 (G1)

Quality Score

181

Status

Validated

Chromosome

Chromosomal Location

121606673-121612884 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121607133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 98 (E98K)

Ref Sequence

ENSEMBL: ENSMUSP00000095873 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000098272
AA Change: E98K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095873
Gene: ENSMUSG00000074001
AA Change: E98K

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

noncoding transcript
Transcript: ENSMUST00000215257

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216358

Meta Mutation Damage Score

0.1855

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (100/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm5	T	A	7: 119,137,319 (GRCm39)	C378*	probably null	Het
Ago3	T	C	4: 126,311,045 (GRCm39)	D56G	possibly damaging	Het
Ahnak	G	T	19: 8,986,492 (GRCm39)	G2592V	probably damaging	Het
Aldh6a1	C	T	12: 84,480,300 (GRCm39)	G470D	probably damaging	Het
Ankub1	T	A	3: 57,597,796 (GRCm39)	N58I	probably damaging	Het
Apol7b	G	T	15: 77,309,728 (GRCm39)	T23K	probably benign	Het
Arap2	G	A	5: 62,763,474 (GRCm39)	P1557S	possibly damaging	Het
Arhgap24	T	C	5: 103,023,643 (GRCm39)	Y136H	probably damaging	Het
Atp1a1	A	G	3: 101,497,128 (GRCm39)	F393L	probably damaging	Het
Bcdin3d	A	T	15: 99,368,873 (GRCm39)	C109S	probably damaging	Het
Catsperd	A	G	17: 56,965,078 (GRCm39)	K475R	possibly damaging	Het
Cblb	A	G	16: 52,024,843 (GRCm39)	T913A	probably benign	Het
Cbx6	A	G	15: 79,712,404 (GRCm39)	L341P	probably benign	Het
Cd177	T	C	7: 24,457,781 (GRCm39)	Y159C	probably damaging	Het
Cdh20	A	G	1: 110,027,844 (GRCm39)	N530D	probably damaging	Het
Cdk8	T	C	5: 146,235,682 (GRCm39)	F270L	probably damaging	Het
Ces2c	A	T	8: 105,574,656 (GRCm39)	T38S	probably damaging	Het
Chst14	T	C	2: 118,758,202 (GRCm39)	L357P	probably damaging	Het
Clca3b	T	A	3: 144,528,627 (GRCm39)		probably benign	Het
Cluh	A	G	11: 74,555,720 (GRCm39)	S839G	probably benign	Het
Cnga4	T	A	7: 105,056,947 (GRCm39)	V350E	probably damaging	Het
Creb1	G	A	1: 64,609,426 (GRCm39)	G180R	probably damaging	Het
Csmd3	T	C	15: 48,320,907 (GRCm39)	E301G	probably benign	Het
Cyp4f18	A	T	8: 72,749,844 (GRCm39)	D268E	probably benign	Het
Dock5	A	G	14: 68,022,241 (GRCm39)		probably benign	Het
Dpy19l4	T	A	4: 11,289,715 (GRCm39)	H332L	probably benign	Het
Dync2h1	T	A	9: 7,113,153 (GRCm39)	H224L	probably benign	Het
Dzip1l	C	A	9: 99,545,134 (GRCm39)	Q585K	possibly damaging	Het
Erf	C	T	7: 24,943,801 (GRCm39)	G510D	probably damaging	Het
Fanci	T	C	7: 79,081,926 (GRCm39)	L623P	probably benign	Het
Fat1	T	C	8: 45,475,988 (GRCm39)	V1655A	probably damaging	Het
Fat4	T	C	3: 38,942,463 (GRCm39)	V452A	probably benign	Het
Gal3st4	C	T	5: 138,264,151 (GRCm39)	G283S	probably benign	Het
Gm5422	A	G	10: 31,126,318 (GRCm39)		noncoding transcript	Het
Gnal	C	T	18: 67,221,744 (GRCm39)	T49I	unknown	Het
Gng5	A	G	3: 146,209,103 (GRCm39)	N57S	probably damaging	Het
Herc1	A	G	9: 66,355,441 (GRCm39)	I2231V	probably damaging	Het
Hgfac	G	T	5: 35,201,584 (GRCm39)	G272W	probably damaging	Het
Hmcn1	T	A	1: 150,618,092 (GRCm39)	D1265V	possibly damaging	Het
Ifi207	T	A	1: 173,563,878 (GRCm39)	Q47L	possibly damaging	Het
Lepr	G	T	4: 101,630,207 (GRCm39)		probably benign	Het
Lyst	A	G	13: 13,812,600 (GRCm39)	H1004R	probably benign	Het
Map3k1	T	A	13: 111,892,298 (GRCm39)	R986*	probably null	Het
Mmp1b	C	A	9: 7,387,013 (GRCm39)	Q66H	possibly damaging	Het
Mpo	T	C	11: 87,694,330 (GRCm39)	S107P	probably benign	Het
Mroh9	T	C	1: 162,888,205 (GRCm39)	H290R	possibly damaging	Het
Myo7b	A	G	18: 32,097,439 (GRCm39)		probably null	Het
Myom1	T	C	17: 71,399,215 (GRCm39)		probably benign	Het
Nalcn	C	T	14: 123,834,026 (GRCm39)	V50I	possibly damaging	Het
Negr1	A	G	3: 156,866,385 (GRCm39)		probably benign	Het
Nlrc5	T	G	8: 95,219,753 (GRCm39)		probably benign	Het
Nyap2	G	A	1: 81,065,029 (GRCm39)	D14N	probably damaging	Het
Or10w1	T	A	19: 13,632,261 (GRCm39)	I151N	possibly damaging	Het
Or2h1	C	A	17: 37,404,203 (GRCm39)	G188W	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Parp14	A	T	16: 35,661,779 (GRCm39)	S1419T	possibly damaging	Het
Piezo2	A	G	18: 63,160,615 (GRCm39)	F2347S	probably damaging	Het
Pigf	A	G	17: 87,316,337 (GRCm39)	V147A	probably benign	Het
Pkhd1	A	T	1: 20,629,693 (GRCm39)	M637K	probably benign	Het
Plce1	T	C	19: 38,748,582 (GRCm39)	I1771T	probably benign	Het
Ppp6c	A	T	2: 39,096,660 (GRCm39)		probably benign	Het
Prag1	T	C	8: 36,570,854 (GRCm39)	V479A	possibly damaging	Het
Prss33	A	T	17: 24,054,079 (GRCm39)	D42E	probably benign	Het
Psmb10	A	G	8: 106,664,177 (GRCm39)	V64A	possibly damaging	Het
Psmd14	A	G	2: 61,630,407 (GRCm39)	T306A	probably benign	Het
Psmg1	C	T	16: 95,790,687 (GRCm39)		probably benign	Het
Rc3h2	A	T	2: 37,266,671 (GRCm39)		probably null	Het
Reln	C	T	5: 22,125,494 (GRCm39)	V2730I	probably damaging	Het
Sec24a	A	T	11: 51,634,622 (GRCm39)	H101Q	probably benign	Het
Selenoi	A	G	5: 30,471,954 (GRCm39)	N385S	probably benign	Het
Slc24a4	T	C	12: 102,097,882 (GRCm39)		probably null	Het
Slc4a10	G	A	2: 62,080,877 (GRCm39)	S338N	probably benign	Het
Slfn3	A	T	11: 83,103,986 (GRCm39)	T286S	probably damaging	Het
Snx29	A	G	16: 11,213,167 (GRCm39)	D111G	probably benign	Het
Sp8	T	C	12: 118,812,300 (GRCm39)	S52P	possibly damaging	Het
Srek1	G	T	13: 103,897,098 (GRCm39)	T81K	probably damaging	Het
Sry	C	G	Y: 2,662,864 (GRCm39)	Q265H	unknown	Het
Taf3	A	G	2: 9,945,804 (GRCm39)	V600A	probably benign	Het
Tatdn2	C	A	6: 113,679,550 (GRCm39)	D298E	probably benign	Het
Tmem253	A	T	14: 52,254,663 (GRCm39)		probably benign	Het
Tmem63a	T	A	1: 180,785,614 (GRCm39)		probably null	Het
Tmprss11b	T	C	5: 86,809,499 (GRCm39)	D331G	probably damaging	Het
Tor1aip1	T	A	1: 155,883,420 (GRCm39)	K143*	probably null	Het
Trappc8	A	T	18: 20,977,245 (GRCm39)	N841K	possibly damaging	Het
Trio	T	C	15: 27,855,049 (GRCm39)	Q711R	probably benign	Het
Trmt10b	C	A	4: 45,304,306 (GRCm39)	T114N	probably damaging	Het
Trpv2	C	A	11: 62,473,732 (GRCm39)	A129D	probably benign	Het
Ttll4	T	G	1: 74,727,777 (GRCm39)	D846E	probably benign	Het
Ugt2a3	A	G	5: 87,484,508 (GRCm39)	L172P	possibly damaging	Het
Usp19	T	A	9: 108,371,686 (GRCm39)	F355Y	probably damaging	Het
Vmn1r209	C	T	13: 22,990,114 (GRCm39)	G192D	probably damaging	Het
Vmn2r107	T	G	17: 20,578,021 (GRCm39)	D443E	probably benign	Het
Wee2	A	T	6: 40,440,187 (GRCm39)	E445V	probably benign	Het
Zer1	A	T	2: 29,991,819 (GRCm39)	I680N	probably damaging	Het
Zfhx4	T	C	3: 5,467,795 (GRCm39)	L2651P	probably damaging	Het
Zfp692	C	T	11: 58,199,881 (GRCm39)	Q157*	probably null	Het
Zfp964	T	A	8: 70,116,587 (GRCm39)	C396S	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
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
R9650:Klhl40	UTSW	9	121,609,083 (GRCm39)	missense	possibly damaging	0.80
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'- CTCAAGGCTGCTCAGAGAGAAAGC -3'
(R):5'- AGATGATGGCGATCAGCTCGTCAG -3'

Sequencing Primer
(F):5'- ACAGACTTGCTGAGTTCCAG -3'
(R):5'- AGTCCCAGGAAGTCGTTGTC -3'

Posted On

2013-06-12