Mutagenetix > Incidental Mutation

Incidental Mutation 'R1735:Klhl40'

199643

Institutional Source

Beutler Lab

Gene Symbol

Klhl40

Ensembl Gene

ENSMUSG00000074001

Gene Name

kelch-like 40

Synonyms

2310024D23Rik, Kbtbd5

MMRRC Submission

039767-MU

Accession Numbers

Essential gene?

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

Stock #

R1735 (G1)

Quality Score

204

Status

Not validated

Chromosome

Chromosomal Location

121606673-121612884 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121609004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 390 (S390P)

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: S390P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000095873
Gene: ENSMUSG00000074001
AA Change: S390P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215257

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216358

Coding Region Coverage

1x: 97.6%
3x: 97.0%
10x: 95.3%
20x: 92.1%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot5	A	T	12: 84,122,261 (GRCm39)	I282F	probably benign	Het
Adam19	C	A	11: 46,029,744 (GRCm39)	Q730K	probably benign	Het
Adgrv1	A	G	13: 81,636,066 (GRCm39)	V3481A	possibly damaging	Het
Akr1c20	T	C	13: 4,537,207 (GRCm39)	D316G	probably benign	Het
Ap3b1	G	A	13: 94,630,225 (GRCm39)	V827I	unknown	Het
Aph1a	T	A	3: 95,802,821 (GRCm39)	D140E	probably damaging	Het
Arhgef19	G	T	4: 140,976,929 (GRCm39)	V502L	possibly damaging	Het
Arl9	T	C	5: 77,154,473 (GRCm39)	F67S	probably damaging	Het
B430305J03Rik	G	A	3: 61,271,361 (GRCm39)		probably benign	Het
B4galnt2	A	G	11: 95,781,809 (GRCm39)	F119L	probably damaging	Het
Bcap29	T	A	12: 31,680,839 (GRCm39)	N49I	probably damaging	Het
Capn11	T	A	17: 45,943,327 (GRCm39)	K616*	probably null	Het
Cdh12	T	A	15: 21,520,452 (GRCm39)	Y306N	probably damaging	Het
Cep350	T	A	1: 155,828,960 (GRCm39)	N315Y	probably damaging	Het
Cfap300	A	C	9: 8,027,266 (GRCm39)	S91A	probably benign	Het
Cited2	C	A	10: 17,599,794 (GRCm39)	P34Q	probably damaging	Het
Cmya5	A	T	13: 93,226,297 (GRCm39)	D2930E	probably benign	Het
Cog3	T	A	14: 75,966,761 (GRCm39)	K470*	probably null	Het
Commd10	A	G	18: 47,123,552 (GRCm39)	T136A	probably benign	Het
Csf2ra	C	A	19: 61,214,782 (GRCm39)	D181Y	probably damaging	Het
Csmd1	T	A	8: 15,982,610 (GRCm39)	I2686F	probably damaging	Het
Dhx29	T	C	13: 113,081,620 (GRCm39)	S415P	probably benign	Het
Dsel	A	T	1: 111,788,645 (GRCm39)	F630Y	probably damaging	Het
Ell	T	A	8: 71,031,590 (GRCm39)	I96N	possibly damaging	Het
Ephx2	T	A	14: 66,325,752 (GRCm39)	I358L	probably benign	Het
Fam162b	A	G	10: 51,463,307 (GRCm39)	I120T	probably damaging	Het
Fam187a	T	C	11: 102,776,606 (GRCm39)	Y137H	probably damaging	Het
Fastk	T	C	5: 24,646,801 (GRCm39)	E403G	probably damaging	Het
Fcrlb	C	A	1: 170,734,901 (GRCm39)	V409F	probably benign	Het
Flot2	G	T	11: 77,948,831 (GRCm39)	A269S	probably benign	Het
Gpd2	T	A	2: 57,245,563 (GRCm39)	N419K	probably damaging	Het
Hecw1	A	T	13: 14,552,350 (GRCm39)	M61K	probably null	Het
Htr2a	T	C	14: 74,943,568 (GRCm39)	F383L	probably damaging	Het
Kctd6	C	T	14: 8,222,253 (GRCm38)	R32C	probably damaging	Het
Khdc1a	A	G	1: 21,421,189 (GRCm39)	T125A	probably benign	Het
Lonp1	G	A	17: 56,921,956 (GRCm39)	T808I	probably damaging	Het
Loxhd1	A	C	18: 77,492,585 (GRCm39)	D1342A	probably damaging	Het
Lrat	T	C	3: 82,804,417 (GRCm39)	I187V	probably benign	Het
Lrif1	T	C	3: 106,643,162 (GRCm39)	*238Q	probably null	Het
Lrp2bp	T	C	8: 46,465,025 (GRCm39)	F48S	probably benign	Het
Mafg	A	G	11: 120,520,504 (GRCm39)	M32T	possibly damaging	Het
Map4	C	T	9: 109,864,023 (GRCm39)	T416I	probably benign	Het
N4bp2	T	C	5: 65,965,659 (GRCm39)	F1236S	probably damaging	Het
Nfatc3	A	G	8: 106,810,466 (GRCm39)	D414G	probably damaging	Het
Nhsl3	G	T	4: 129,117,370 (GRCm39)	S476R	probably damaging	Het
Nrip2	T	G	6: 128,382,037 (GRCm39)	V50G	probably damaging	Het
Or10aa3	A	T	1: 173,878,365 (GRCm39)	K142I	probably benign	Het
Or10j5	A	G	1: 172,784,374 (GRCm39)	N4S	probably benign	Het
Or52ae7	T	A	7: 103,119,353 (GRCm39)	F36I	possibly damaging	Het
Or5b24	T	A	19: 12,912,207 (GRCm39)	I35N	probably damaging	Het
Pcdhb18	A	T	18: 37,623,822 (GRCm39)	H384L	probably benign	Het
Pik3r1	A	T	13: 101,822,882 (GRCm39)	Y607N	probably damaging	Het
Plagl2	G	A	2: 153,074,397 (GRCm39)	T168I	probably damaging	Het
Polr2a	A	G	11: 69,633,222 (GRCm39)	S912P	probably damaging	Het
Ppp1r16b	A	G	2: 158,603,415 (GRCm39)	K447E	possibly damaging	Het
Prkd1	T	C	12: 50,388,822 (GRCm39)	E907G	possibly damaging	Het
Rabep2	A	G	7: 126,043,712 (GRCm39)	R470G	probably damaging	Het
Rasal2	T	C	1: 157,001,730 (GRCm39)	Y518C	probably damaging	Het
Rbmxl1	A	G	8: 79,232,711 (GRCm39)	Y211H	probably damaging	Het
Rdh7	T	C	10: 127,720,454 (GRCm39)	Y306C	probably benign	Het
Rtn3	T	C	19: 7,435,276 (GRCm39)	I220V	probably damaging	Het
Scn8a	A	G	15: 100,913,742 (GRCm39)	N1045D	possibly damaging	Het
Scube1	T	C	15: 83,491,638 (GRCm39)	H952R	probably damaging	Het
Sf3b1	A	G	1: 55,039,811 (GRCm39)	I690T	probably damaging	Het
Sharpin	T	C	15: 76,232,136 (GRCm39)	K240R	probably benign	Het
Skint5	A	G	4: 113,420,656 (GRCm39)	I1108T	unknown	Het
Snip1	A	G	4: 124,964,994 (GRCm39)	D133G	probably benign	Het
St3gal3	T	C	4: 117,871,971 (GRCm39)	Y77C	probably damaging	Het
Sytl3	T	C	17: 6,982,880 (GRCm39)	V112A	probably benign	Het
Tnxb	C	T	17: 34,936,944 (GRCm39)	P3718S	probably damaging	Het
Ttc24	A	T	3: 87,980,401 (GRCm39)		probably null	Het
Ubr3	A	T	2: 69,839,473 (GRCm39)	E1529V	probably damaging	Het
Utrn	T	A	10: 12,585,882 (GRCm39)	H965L	probably benign	Het
Xrn2	T	A	2: 146,903,343 (GRCm39)	L781Q	probably damaging	Het
Zbtb11	T	C	16: 55,811,045 (GRCm39)	I401T	probably benign	Het
Zc3h14	C	T	12: 98,724,839 (GRCm39)	P167L	probably damaging	Het
Zfp609	G	T	9: 65,610,374 (GRCm39)	S863*	probably null	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
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'- GGGAAGCCTTGAACAGTTGGTCAC -3'
(R):5'- AAGTCCGGCTCTCTGCACTCATAC -3'

Sequencing Primer
(F):5'- CTTGAACAGTTGGTCACCAAAG -3'
(R):5'- AGGTCTTCACCCAATGGC -3'

Posted On

2014-05-23