Mutagenetix > Incidental Mutation

Incidental Mutation 'R8669:Klhl40'

661055

Institutional Source

Beutler Lab

Gene Symbol

Klhl40

Ensembl Gene

ENSMUSG00000074001

Gene Name

kelch-like 40

Synonyms

2310024D23Rik, Kbtbd5

MMRRC Submission

068524-MU

Accession Numbers

Essential gene?

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

Stock #

R8669 (G1)

Quality Score

219.009

Status

Validated

Chromosome

Chromosomal Location

121606673-121612884 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121607088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 83 (S83T)

Ref Sequence

ENSEMBL: ENSMUSP00000095873 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000098272
AA Change: S83T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000095873
Gene: ENSMUSG00000074001
AA Change: S83T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (53/54)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	T	12: 72,949,234 (GRCm39)	S305T	probably benign	Het
Ankrd42	A	G	7: 92,268,881 (GRCm39)	V154A	possibly damaging	Het
Apc2	C	T	10: 80,149,491 (GRCm39)	T1515I	probably damaging	Het
Blzf1	T	A	1: 164,130,113 (GRCm39)	N80Y	possibly damaging	Het
Cacna2d1	T	C	5: 16,140,013 (GRCm39)	M1T	probably null	Het
Ccdc125	T	C	13: 100,832,683 (GRCm39)	L420P	probably damaging	Het
Ccdc162	T	C	10: 41,428,352 (GRCm39)	T1976A	probably benign	Het
Cdc20b	C	T	13: 113,208,460 (GRCm39)	P219S	possibly damaging	Het
Cep89	A	G	7: 35,128,602 (GRCm39)	D585G	probably benign	Het
Crnn	A	T	3: 93,056,296 (GRCm39)	R361*	probably null	Het
Defb5	A	G	8: 19,300,761 (GRCm39)	I38V	probably benign	Het
Defb8	A	G	8: 19,495,973 (GRCm39)	V29A	probably benign	Het
Dgkh	A	G	14: 78,962,459 (GRCm39)	V24A	probably benign	Het
Dhrs13	G	C	11: 77,923,492 (GRCm39)	R70P	possibly damaging	Het
Dnah12	A	T	14: 26,552,582 (GRCm39)		probably benign	Het
Dsg2	A	G	18: 20,723,132 (GRCm39)	N386S	probably damaging	Het
Dyrk1a	G	T	16: 94,464,650 (GRCm39)	R77L	probably damaging	Het
Fbxw19	G	T	9: 109,313,482 (GRCm39)	L239I	probably benign	Het
Gal3st2b	A	T	1: 93,868,764 (GRCm39)	I332L	possibly damaging	Het
Gcnt1	T	G	19: 17,307,143 (GRCm39)	K194T	probably benign	Het
Gm7298	T	C	6: 121,742,002 (GRCm39)	W475R	probably benign	Het
Gpatch1	C	A	7: 34,991,204 (GRCm39)	W613C	probably damaging	Het
Gulp1	T	A	1: 44,805,270 (GRCm39)	S120T	probably benign	Het
Ift122	C	A	6: 115,900,252 (GRCm39)	Q946K	probably damaging	Het
Itpr1	T	A	6: 108,370,928 (GRCm39)	L1065H	probably damaging	Het
Kcnq5	T	C	1: 21,476,050 (GRCm39)	D579G	probably damaging	Het
Krt19	T	C	11: 100,031,993 (GRCm39)	K320E	probably damaging	Het
Krt87	C	A	15: 101,385,777 (GRCm39)	V273L	probably benign	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lrp1b	A	G	2: 41,172,047 (GRCm39)		probably null	Het
Lrrk1	G	A	7: 65,912,344 (GRCm39)	L1739F	probably benign	Het
Mthfr	A	G	4: 148,135,934 (GRCm39)	N336D	probably benign	Het
Myo6	T	G	9: 80,173,531 (GRCm39)	L557R	unknown	Het
Naip2	T	C	13: 100,325,477 (GRCm39)	S144G	probably benign	Het
Nfatc1	T	C	18: 80,725,406 (GRCm39)	K453E	probably damaging	Het
Or52ab7	A	T	7: 102,978,281 (GRCm39)	D196V	probably benign	Het
Osm	A	T	11: 4,189,665 (GRCm39)	I150L	probably benign	Het
Phtf1	T	A	3: 103,910,792 (GRCm39)	N639K	probably benign	Het
Prpf40b	T	A	15: 99,201,228 (GRCm39)	M1K	probably null	Het
Rhbdl3	G	A	11: 80,244,339 (GRCm39)	V349M	probably damaging	Het
Senp7	T	C	16: 55,986,315 (GRCm39)	S582P	probably damaging	Het
Slc16a14	A	G	1: 84,900,605 (GRCm39)	S127P	probably benign	Het
Slc22a21	C	T	11: 53,870,643 (GRCm39)	W14*	probably null	Het
Slc6a18	T	A	13: 73,812,430 (GRCm39)	E553D	probably benign	Het
Speer4a1	T	G	5: 26,243,236 (GRCm39)	N83T	probably damaging	Het
Svep1	T	A	4: 58,070,119 (GRCm39)	S2556C	possibly damaging	Het
Tc2n	T	C	12: 101,660,851 (GRCm39)	N127S	probably damaging	Het
Tcstv7b	C	A	13: 120,702,338 (GRCm39)	P45T	probably benign	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Thra	T	C	11: 98,654,476 (GRCm39)	V282A	possibly damaging	Het
Tmem161b	A	T	13: 84,420,288 (GRCm39)		probably null	Het
Tmem218	C	T	9: 37,133,815 (GRCm39)	A85V	probably benign	Het
Txnip	T	C	3: 96,466,252 (GRCm39)	Y100H	probably damaging	Het
Unc5c	A	G	3: 141,509,704 (GRCm39)	D728G	possibly damaging	Het
Zfp462	T	A	4: 55,051,313 (GRCm39)	I2262K	probably damaging	Het
Zfp804a	A	T	2: 82,088,106 (GRCm39)	D645V	probably damaging	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
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'- TCAAGGACATGCTGGACCAC -3'
(R):5'- AGTCCCAGGAAGTCGTTGTC -3'

Sequencing Primer
(F):5'- ACGGCAAGTTCCTAGACTGTG -3'
(R):5'- AGGAAGTCGTTGTCCCGCG -3'

Posted On

2021-03-08