Mutagenetix > Incidental Mutation

Incidental Mutation 'R9261:Klhl40'

702261

Institutional Source

Beutler Lab

Gene Symbol

Klhl40

Ensembl Gene

ENSMUSG00000074001

Gene Name

kelch-like 40

Synonyms

2310024D23Rik, Kbtbd5

MMRRC Submission

068990-MU

Accession Numbers

Essential gene?

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

Stock #

R9261 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121606673-121612884 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121609002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 389 (D389G)

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

probably benign
Transcript: ENSMUST00000098272
AA Change: D389G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000095873
Gene: ENSMUSG00000074001
AA Change: D389G

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: 98.8%

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	A	G	9: 90,075,397 (GRCm39)	E1043G	probably benign	Het
Agps	T	G	2: 75,684,850 (GRCm39)		probably benign	Het
Ahnak	A	G	19: 8,993,503 (GRCm39)	E4929G	possibly damaging	Het
Arl6ip4	T	A	5: 124,256,146 (GRCm39)		probably benign	Het
Cdhr17	T	C	5: 17,006,547 (GRCm39)	L88P	possibly damaging	Het
Clca3a2	G	T	3: 144,525,158 (GRCm39)	H25N	probably benign	Het
Cubn	C	T	2: 13,283,262 (GRCm39)	D3559N	probably damaging	Het
Dmac2	T	A	7: 25,320,345 (GRCm39)	W15R	probably benign	Het
Dzank1	T	C	2: 144,355,344 (GRCm39)	E117G	probably benign	Het
Eml2	A	G	7: 18,913,743 (GRCm39)	T187A	probably benign	Het
Eml5	A	G	12: 98,822,287 (GRCm39)	V747A	probably damaging	Het
Esr1	T	A	10: 4,919,271 (GRCm39)	S454T	probably damaging	Het
Evc2	A	G	5: 37,537,895 (GRCm39)	T528A	probably benign	Het
Fbxo5	T	C	10: 5,752,325 (GRCm39)	N96S	probably damaging	Het
Fcnb	T	C	2: 27,969,636 (GRCm39)	T144A	probably damaging	Het
Fgf20	T	A	8: 40,739,951 (GRCm39)		probably benign	Het
Gcg	T	C	2: 62,306,408 (GRCm39)		probably benign	Het
Gfm2	T	A	13: 97,299,369 (GRCm39)	Y363*	probably null	Het
Grwd1	C	T	7: 45,475,381 (GRCm39)	R387Q	probably benign	Het
Gstt2	C	T	10: 75,669,511 (GRCm39)	D59N	possibly damaging	Het
Herc1	A	G	9: 66,412,129 (GRCm39)	N4783S	probably damaging	Het
Hydin	C	A	8: 110,994,047 (GRCm39)	A27E	unknown	Het
Iigp1c	T	A	18: 60,353,820 (GRCm39)		probably benign	Het
Ikbip	A	G	10: 90,932,249 (GRCm39)	T298A	possibly damaging	Het
Il1rap	A	G	16: 26,541,724 (GRCm39)	N655S	possibly damaging	Het
Kif21b	C	T	1: 136,077,162 (GRCm39)	R395C	probably damaging	Het
Kif3a	ATTGACG	A	11: 53,484,248 (GRCm39)		probably benign	Het
Ly6g	A	G	15: 75,030,529 (GRCm39)	T116A	probably damaging	Het
Mast2	A	G	4: 116,165,900 (GRCm39)	L1276P	probably damaging	Het
Mitf	A	G	6: 97,990,704 (GRCm39)	Q369R	possibly damaging	Het
Mtus2	T	A	5: 148,243,453 (GRCm39)	Y192*	probably null	Het
Nav1	T	A	1: 135,388,095 (GRCm39)	E1109D	unknown	Het
Nav2	A	G	7: 49,246,904 (GRCm39)	E2143G	probably damaging	Het
Nedd4	A	G	9: 72,584,656 (GRCm39)	Q119R	possibly damaging	Het
Nek9	A	G	12: 85,359,841 (GRCm39)	V537A	probably damaging	Het
Notum	G	T	11: 120,550,974 (GRCm39)	T64K		Het
Nudcd2	A	G	11: 40,630,026 (GRCm39)	N144S	probably damaging	Het
Nup205	A	G	6: 35,176,792 (GRCm39)	E596G	probably benign	Het
Olfml1	T	A	7: 107,167,007 (GRCm39)	L12Q	possibly damaging	Het
Or4f60	T	A	2: 111,902,718 (GRCm39)	D70V	probably damaging	Het
Or51k1	C	T	7: 103,661,336 (GRCm39)	C191Y	probably damaging	Het
Or52n2c	A	T	7: 104,574,305 (GRCm39)	M222K	probably benign	Het
Or56b2	T	A	7: 104,337,260 (GRCm39)	F13I	probably benign	Het
Or6b13	A	G	7: 139,782,563 (GRCm39)	V40A	probably benign	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Padi4	T	C	4: 140,479,926 (GRCm39)	N409S	probably damaging	Het
Pam	T	A	1: 97,903,620 (GRCm39)	T38S	probably benign	Het
Piezo2	T	C	18: 63,208,868 (GRCm39)	I1382V	possibly damaging	Het
Pla2g12a	A	T	3: 129,684,080 (GRCm39)	Q153L	possibly damaging	Het
Pla2g4e	T	A	2: 120,019,910 (GRCm39)	H180L	probably benign	Het
Pou2af2	T	A	9: 51,202,998 (GRCm39)	H52L	probably benign	Het
Pprc1	A	G	19: 46,050,868 (GRCm39)	T169A	unknown	Het
Prrc2c	A	G	1: 162,505,622 (GRCm39)	I2592T	possibly damaging	Het
Ptchd3	T	A	11: 121,722,956 (GRCm39)	I348N	probably damaging	Het
Ralgps1	T	C	2: 33,226,571 (GRCm39)	D40G	probably damaging	Het
Rbm19	T	C	5: 120,256,810 (GRCm39)	F41S	probably damaging	Het
Rbsn	T	C	6: 92,166,797 (GRCm39)	M616V	probably benign	Het
Ryr1	A	T	7: 28,751,813 (GRCm39)	M3660K	possibly damaging	Het
Sidt2	A	T	9: 45,861,396 (GRCm39)	V246E	probably damaging	Het
Slc4a4	T	C	5: 89,347,568 (GRCm39)	W770R	probably damaging	Het
Spata31d1c	T	A	13: 65,184,680 (GRCm39)	S741T	probably damaging	Het
Stk19	T	G	17: 35,051,432 (GRCm39)	Y108S	possibly damaging	Het
Stox2	T	C	8: 47,645,441 (GRCm39)	E673G	possibly damaging	Het
Tax1bp1	T	A	6: 52,714,116 (GRCm39)	C271S	probably benign	Het
Tmem161a	C	A	8: 70,631,572 (GRCm39)	R167S	probably damaging	Het
Tnrc6c	T	A	11: 117,605,105 (GRCm39)	V80E	probably damaging	Het
Trpa1	G	A	1: 14,963,465 (GRCm39)	H586Y	probably damaging	Het
Tsr1	A	G	11: 74,799,056 (GRCm39)	T746A	probably damaging	Het
Uqcrfs1	T	C	13: 30,724,794 (GRCm39)	I249V	probably damaging	Het
Vmn2r84	C	A	10: 130,229,976 (GRCm39)	E45D	probably benign	Het
Vnn3	A	G	10: 23,741,607 (GRCm39)	E304G	probably damaging	Het
Zfp541	G	A	7: 15,816,029 (GRCm39)	V839M	possibly damaging	Het
Zfp62	A	G	11: 49,108,350 (GRCm39)	K814E	probably benign	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
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'- GGGAAGCCTTGAACAGTTGGTC -3'
(R):5'- TCTTCACCCAATGGCTGTG -3'

Sequencing Primer
(F):5'- GCCTTGAACAGTTGGTCACCAAAG -3'
(R):5'- AATGGCTGTGCACCCTTG -3'

Posted On

2022-03-25