Mutagenetix > Incidental Mutations

Incidental Mutation 'R6198:Klhl40'

503045

Institutional Source

Beutler Lab

Gene Symbol

Klhl40

Ensembl Gene

ENSMUSG00000074001

Gene Name

kelch-like 40

Synonyms

MMRRC Submission

044338-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R6198 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121777607-121783818 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121778767 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 331 (Y331C)

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: Y331C

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

SMART Domains

Protein: ENSMUSP00000095873
Gene: ENSMUSG00000074001
AA Change: Y331C

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (68/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,416,850		probably null	Het
1700061G19Rik	A	G	17: 56,882,679	S265G	probably damaging	Het
2610318N02Rik	A	G	16: 17,118,369	S164P	probably damaging	Het
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Adam19	A	C	11: 46,121,502	N275T	probably damaging	Het
Adgrg7	T	A	16: 56,777,193	T84S	possibly damaging	Het
Asl	C	T	5: 130,018,916	V70I	probably benign	Het
Atp2c1	A	G	9: 105,521,072	S26P	probably benign	Het
Bcas3	A	T	11: 85,509,435	D410V	probably damaging	Het
Cc2d1b	C	T	4: 108,633,225	R825W	probably damaging	Het
Ccdc15	A	C	9: 37,314,285		probably null	Het
Cfh	A	G	1: 140,105,440	S789P	probably damaging	Het
Cltc	T	C	11: 86,720,362	N561S	probably benign	Het
Cnst	A	G	1: 179,592,865	Q187R	probably damaging	Het
Csmd3	T	C	15: 48,313,877	T422A	probably benign	Het
Cyp2c55	A	T	19: 39,007,121	R26*	probably null	Het
Dgkb	A	T	12: 38,173,823	M414L	probably benign	Het
Dgkd	A	G	1: 87,924,208	D444G	probably damaging	Het
Dnmt3c	T	C	2: 153,720,009	V544A	noncoding transcript	Het
Dus3l	A	T	17: 56,767,858	T327S	possibly damaging	Het
Elf2	A	T	3: 51,277,249	L5Q	probably damaging	Het
Fam69b	A	G	2: 26,635,698	K215E	probably damaging	Het
Fxyd6	A	G	9: 45,390,670	Y30C	probably damaging	Het
Gcc2	A	T	10: 58,292,590	T1375S	probably benign	Het
Git2	A	T	5: 114,745,495	Y393*	probably null	Het
Gm14403	AAACCCTA	AA	2: 177,509,655		probably benign	Het
Gm9573	T	A	17: 35,620,916		probably benign	Het
Golgb1	T	C	16: 36,893,395	L246P	probably damaging	Het
Grp	G	T	18: 65,879,986	Q74H	possibly damaging	Het
Ifi203	A	T	1: 173,924,082	M391K	probably damaging	Het
Itih2	A	G	2: 10,098,541	Y712H	probably benign	Het
Kdm5a	T	A	6: 120,438,997	V1626E	probably benign	Het
Kprp	T	A	3: 92,824,687	Y352F	probably damaging	Het
Lama2	G	T	10: 27,188,022	H1286Q	probably damaging	Het
Lgi4	T	A	7: 31,069,122		probably null	Het
Lrrc47	A	T	4: 154,015,672	N235I	probably damaging	Het
Lrrc74b	T	A	16: 17,548,786	I308F	probably damaging	Het
Map7d1	T	A	4: 126,241,843	K135M	probably damaging	Het
March5	A	G	19: 37,210,741	R36G	probably damaging	Het
Mtx3	C	A	13: 92,852,851	P299Q	probably benign	Het
Ncapd2	C	A	6: 125,179,323	E500*	probably null	Het
Nckap5l	T	C	15: 99,425,988	K878R	probably damaging	Het
Nphs1	T	C	7: 30,467,915	I756T	probably damaging	Het
Olfm4	T	G	14: 80,000,373	S17A	probably benign	Het
Olfr1270	A	T	2: 90,149,438	D189E	probably damaging	Het
Olfr344	A	G	2: 36,568,951	M118V	probably damaging	Het
Pak1ip1	G	T	13: 41,001,410	Q27H	probably benign	Het
Piezo2	A	T	18: 63,157,210	C159*	probably null	Het
Pkn2	G	T	3: 142,810,404	T538K	probably benign	Het
Ppp3cc	A	T	14: 70,247,611	M198K	probably benign	Het
Rrm1	T	G	7: 102,446,729		probably null	Het
Setd3	T	C	12: 108,165,168	K7E	possibly damaging	Het
Shc1	A	G	3: 89,422,107	K86R	probably benign	Het
Slc16a7	T	C	10: 125,228,215	T418A	probably benign	Het
Spocd1	C	T	4: 129,955,415	P676S	probably damaging	Het
Spp1	A	G	5: 104,439,508		probably null	Het
Syne1	A	G	10: 5,302,269	Y2462H	probably damaging	Het
Tiam2	T	C	17: 3,414,121	S42P	probably benign	Het
Tmem63b	C	T	17: 45,661,516	V722I	probably benign	Het
Ubqln1	A	G	13: 58,196,590	S130P	probably benign	Het
Usp34	G	T	11: 23,484,127	L3215F	probably damaging	Het
Uvssa	A	G	5: 33,409,510	Y517C	probably damaging	Het
Vps13d	A	T	4: 145,148,990	F1649Y	probably benign	Het
Zfp236	A	G	18: 82,657,153	S405P	probably damaging	Het
Zfp9	T	C	6: 118,477,321	M1V	probably null	Het
Zfp946	A	T	17: 22,454,915	S217C	probably damaging	Het
Zfp970	T	A	2: 177,475,460	C276S	probably damaging	Het
Zswim5	T	A	4: 116,878,007	F183Y	probably benign	Het

Other mutations in Klhl40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01391:Klhl40	APN	9	121778917	missense	probably damaging	1.00
IGL02123:Klhl40	APN	9	121779923	missense	probably benign	0.01
IGL03059:Klhl40	APN	9	121778137	missense	probably damaging	1.00
IGL03124:Klhl40	APN	9	121780685	missense	probably damaging	1.00
IGL03204:Klhl40	APN	9	121782630	missense	probably benign	0.03
IGL03366:Klhl40	APN	9	121783380	missense	probably damaging	1.00
R0506:Klhl40	UTSW	9	121778067	missense	probably damaging	0.98
R1735:Klhl40	UTSW	9	121779938	missense	probably benign	0.00
R2430:Klhl40	UTSW	9	121780601	missense	possibly damaging	0.57
R3685:Klhl40	UTSW	9	121782658	missense	probably damaging	1.00
R3839:Klhl40	UTSW	9	121780416	missense	possibly damaging	0.93
R3929:Klhl40	UTSW	9	121780676	missense	probably benign
R4326:Klhl40	UTSW	9	121778890	missense	probably benign	0.37
R4328:Klhl40	UTSW	9	121778890	missense	probably benign	0.37
R4664:Klhl40	UTSW	9	121780733	missense	probably damaging	1.00
R4697:Klhl40	UTSW	9	121778734	missense	probably damaging	1.00
R5228:Klhl40	UTSW	9	121777801	missense	probably benign	0.02
R6258:Klhl40	UTSW	9	121777960	missense	probably damaging	1.00
R7992:Klhl40	UTSW	9	121778682	missense	probably damaging	1.00
R8171:Klhl40	UTSW	9	121778557	missense	probably benign	0.14
R8544:Klhl40	UTSW	9	121778826	missense	probably damaging	0.99
R8669:Klhl40	UTSW	9	121778022	missense	probably benign	0.01
R8838:Klhl40	UTSW	9	121780041	missense	probably benign
R9239:Klhl40	UTSW	9	121778571	missense	probably benign	0.06
R9261:Klhl40	UTSW	9	121779936	missense	probably benign
R9402:Klhl40	UTSW	9	121780416	missense	possibly damaging	0.93
Z1177:Klhl40	UTSW	9	121780693	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- TCGTGCTTTCCTGGAGACTC -3'
(R):5'- TTCCTCTCAAGACTGGCCAG -3'

Sequencing Primer
(F):5'- CTTTCCTGGAGACTCGCGTG -3'
(R):5'- TCAAGACTGGCCAGGCACC -3'

Posted On

2018-02-27