Mutagenetix > Incidental Mutation

Incidental Mutation 'R8678:Klhl20'

661488

Institutional Source

Beutler Lab

Gene Symbol

Klhl20

Ensembl Gene

ENSMUSG00000026705

Gene Name

kelch-like 20

Synonyms

D930050H05Rik

MMRRC Submission

068533-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.613) question?

Stock #

R8678 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

160915945-160959078 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 160936997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 126 (I126N)

Ref Sequence

ENSEMBL: ENSMUSP00000107238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111611] [ENSMUST00000117467]

AlphaFold

Q8VCK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000111611
AA Change: I126N

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

SMART Domains

Protein: ENSMUSP00000107238
Gene: ENSMUSG00000026705
AA Change: I126N

Domain	Start	End	E-Value	Type
BTB	63	160	2.73e-31	SMART
BACK	165	267	1.98e-41	SMART
Kelch	314	360	8.45e-16	SMART
Kelch	361	408	1.35e-14	SMART
Kelch	409	455	5.12e-15	SMART
Kelch	456	502	1.22e-12	SMART
Kelch	503	549	1.35e-14	SMART
Kelch	550	596	1.59e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000117467
AA Change: I126N

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

SMART Domains

Protein: ENSMUSP00000114044
Gene: ENSMUSG00000026705
AA Change: I126N

Domain	Start	End	E-Value	Type
BTB	63	160	2.73e-31	SMART
BACK	165	267	1.98e-41	SMART
Kelch	314	360	8.45e-16	SMART
Kelch	361	408	1.35e-14	SMART
Kelch	409	455	5.12e-15	SMART
Kelch	456	502	1.22e-12	SMART
Kelch	503	549	1.35e-14	SMART
Kelch	550	596	1.59e-11	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.7%

Validation Efficiency

99% (69/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 44-56 amino acid repeat motif. The kelch motif appears in many different polypeptide contexts and contains multiple potential protein-protein contact sites. Members of this family are present both throughout the cell and extracellularly, with diverse activities. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a transgenic gene disruption may exhibit male sterility. Mice homozygous for a gene trap allele exhibit corneal vascularization and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	C	T	16: 20,184,685 (GRCm39)	M991I	probably benign	Het
Acacb	T	A	5: 114,340,032 (GRCm39)	Y814*	probably null	Het
Alg2	A	G	4: 47,474,108 (GRCm39)	F60S	probably damaging	Het
Aoc1l1	C	T	6: 48,953,158 (GRCm39)	T361I	possibly damaging	Het
Arc	A	G	15: 74,543,539 (GRCm39)	L228P	probably damaging	Het
Bnip1	T	A	17: 27,008,923 (GRCm39)		probably benign	Het
Cacng4	A	G	11: 107,625,925 (GRCm39)	L222P	probably damaging	Het
Calb2	A	T	8: 110,874,275 (GRCm39)	V182E	possibly damaging	Het
Cfap44	A	T	16: 44,295,636 (GRCm39)	I1645F	probably damaging	Het
Col6a5	T	C	9: 105,811,551 (GRCm39)	D656G	unknown	Het
Csmd3	A	G	15: 47,499,849 (GRCm39)	S2096P		Het
Cyp2c70	A	T	19: 40,156,016 (GRCm39)	I178N	probably damaging	Het
Dmxl1	C	T	18: 50,004,759 (GRCm39)	Q936*	probably null	Het
Dnaaf3	A	T	7: 4,533,814 (GRCm39)	F94Y	probably damaging	Het
Eid2b	C	T	7: 27,977,480 (GRCm39)	T92I	possibly damaging	Het
Ercc8	T	C	13: 108,306,027 (GRCm39)		probably null	Het
Fank1	G	A	7: 133,463,957 (GRCm39)		probably null	Het
Fbxw19	C	A	9: 109,312,376 (GRCm39)	E324*	probably null	Het
Fcnb	A	G	2: 27,968,361 (GRCm39)	F199L	possibly damaging	Het
Galnt16	A	G	12: 80,630,822 (GRCm39)	D300G	probably damaging	Het
Gli1	T	C	10: 127,173,260 (GRCm39)	S133G	probably null	Het
Ighv5-8	TATACAT	TAT	12: 113,618,583 (GRCm39)		probably benign	Het
Irak4	A	G	15: 94,464,666 (GRCm39)	D412G	probably benign	Het
Lama1	A	G	17: 68,124,098 (GRCm39)	E2841G		Het
Lmtk3	T	A	7: 45,435,975 (GRCm39)	C85*	probably null	Het
Madd	T	C	2: 91,006,610 (GRCm39)	Y328C	probably damaging	Het
Map1a	G	T	2: 121,137,737 (GRCm39)	R2851L	probably damaging	Het
Mctp2	T	C	7: 71,752,955 (GRCm39)	D766G	probably damaging	Het
Mei4	T	A	9: 81,809,638 (GRCm39)	F240L	probably damaging	Het
Mgat3	A	T	15: 80,096,472 (GRCm39)	Y433F	possibly damaging	Het
Muc20	T	A	16: 32,617,789 (GRCm39)		probably benign	Het
Nat8f1	A	G	6: 85,887,738 (GRCm39)	V74A	probably benign	Het
Nfe2l3	A	G	6: 51,435,153 (GRCm39)	D571G	possibly damaging	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Nphs1	T	C	7: 30,163,284 (GRCm39)	L480S	probably damaging	Het
Nr1d1	G	C	11: 98,660,073 (GRCm39)	R484G	probably damaging	Het
Or2ag2	A	G	7: 106,485,280 (GRCm39)	V248A	probably damaging	Het
Or4c122	T	A	2: 89,079,351 (GRCm39)	Y217F	probably damaging	Het
Or8j3b	C	T	2: 86,205,069 (GRCm39)	R229H	probably benign	Het
Parp10	C	A	15: 76,117,599 (GRCm39)	C929F	probably damaging	Het
Pcdhb21	A	G	18: 37,647,939 (GRCm39)	E356G	probably damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Plch1	T	A	3: 63,623,468 (GRCm39)	R600*	probably null	Het
Ppp1r13l	C	A	7: 19,109,697 (GRCm39)	T706K	probably benign	Het
Ppp1r16b	G	A	2: 158,593,098 (GRCm39)	D226N	probably damaging	Het
Ppp1r16b	G	A	2: 158,598,942 (GRCm39)	R334Q	probably damaging	Het
Ppp1r7	A	G	1: 93,280,364 (GRCm39)	Q188R	probably benign	Het
Pramel26	C	A	4: 143,538,576 (GRCm39)	A132S	probably benign	Het
Prkdc	G	T	16: 15,526,796 (GRCm39)		probably null	Het
Prss33	T	C	17: 24,053,723 (GRCm39)	D118G	probably benign	Het
Rab3gap2	T	G	1: 184,983,281 (GRCm39)	I473M	probably damaging	Het
Rbm44	A	G	1: 91,080,103 (GRCm39)	E97G	probably damaging	Het
Ros1	A	G	10: 51,963,998 (GRCm39)	M1775T	probably benign	Het
Ryr1	T	A	7: 28,776,489 (GRCm39)	M2216L	probably damaging	Het
Scn7a	A	G	2: 66,574,041 (GRCm39)		probably benign	Het
Slc31a2	G	A	4: 62,210,896 (GRCm39)	V12M	probably benign	Het
Slc35b1	T	C	11: 95,278,646 (GRCm39)	Y177H	probably damaging	Het
Slfn9	T	A	11: 82,872,370 (GRCm39)	M789L	probably benign	Het
Srf	A	G	17: 46,861,825 (GRCm39)		probably null	Het
Tank	A	G	2: 61,457,287 (GRCm39)	E81G	probably damaging	Het
Tia1	T	A	6: 86,402,685 (GRCm39)	M241K	probably benign	Het
Tiam1	G	T	16: 89,681,709 (GRCm39)	S423*	probably null	Het
Tubg1	T	G	11: 101,015,264 (GRCm39)	S237A	probably benign	Het
Ubash3b	G	A	9: 40,942,785 (GRCm39)	P358S	probably benign	Het
Vmn2r3	T	C	3: 64,166,896 (GRCm39)	E745G	possibly damaging	Het
Vmn2r4	T	A	3: 64,314,391 (GRCm39)	I197F	probably benign	Het
Vps37d	C	A	5: 135,105,386 (GRCm39)	R79L	probably damaging	Het
Wdr7	T	A	18: 63,910,768 (GRCm39)	L720Q	probably damaging	Het
Xkr5	T	C	8: 18,984,048 (GRCm39)	N498S	probably benign	Het
Zc2hc1c	A	T	12: 85,337,084 (GRCm39)	E247V	probably benign	Het

Other mutations in Klhl20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00777:Klhl20	APN	1	160,937,325 (GRCm39)	missense	probably benign	0.00
IGL00903:Klhl20	APN	1	160,918,076 (GRCm39)	missense	probably benign	0.00
IGL01574:Klhl20	APN	1	160,921,296 (GRCm39)	missense	probably damaging	1.00
IGL01721:Klhl20	APN	1	160,923,157 (GRCm39)	missense	probably damaging	1.00
IGL01933:Klhl20	APN	1	160,934,357 (GRCm39)	missense	probably damaging	1.00
IGL02187:Klhl20	APN	1	160,937,280 (GRCm39)	missense	probably benign	0.05
IGL02634:Klhl20	APN	1	160,925,935 (GRCm39)	missense	probably damaging	0.98
IGL02691:Klhl20	APN	1	160,934,444 (GRCm39)	splice site	probably benign
R0102:Klhl20	UTSW	1	160,918,015 (GRCm39)	nonsense	probably null
R0102:Klhl20	UTSW	1	160,918,015 (GRCm39)	nonsense	probably null
R0639:Klhl20	UTSW	1	160,921,281 (GRCm39)	missense	probably damaging	1.00
R1730:Klhl20	UTSW	1	160,930,560 (GRCm39)	missense	possibly damaging	0.82
R1856:Klhl20	UTSW	1	160,934,312 (GRCm39)	missense	probably benign	0.00
R2016:Klhl20	UTSW	1	160,930,608 (GRCm39)	missense	probably damaging	0.98
R2901:Klhl20	UTSW	1	160,937,122 (GRCm39)	nonsense	probably null
R4822:Klhl20	UTSW	1	160,921,333 (GRCm39)	nonsense	probably null
R4830:Klhl20	UTSW	1	160,925,946 (GRCm39)	missense	probably benign	0.00
R4894:Klhl20	UTSW	1	160,937,102 (GRCm39)	missense	possibly damaging	0.76
R4981:Klhl20	UTSW	1	160,930,575 (GRCm39)	missense	possibly damaging	0.48
R5018:Klhl20	UTSW	1	160,929,156 (GRCm39)	missense	probably damaging	0.98
R5023:Klhl20	UTSW	1	160,936,790 (GRCm39)	critical splice donor site	probably null
R5108:Klhl20	UTSW	1	160,926,820 (GRCm39)	missense	probably damaging	0.99
R5216:Klhl20	UTSW	1	160,921,249 (GRCm39)	critical splice donor site	probably null
R5659:Klhl20	UTSW	1	160,918,040 (GRCm39)	missense	probably damaging	1.00
R6159:Klhl20	UTSW	1	160,933,037 (GRCm39)	missense	probably damaging	1.00
R6836:Klhl20	UTSW	1	160,932,976 (GRCm39)	missense	probably benign	0.18
R6914:Klhl20	UTSW	1	160,921,266 (GRCm39)	missense	possibly damaging	0.50
R6915:Klhl20	UTSW	1	160,921,266 (GRCm39)	missense	possibly damaging	0.50
R6920:Klhl20	UTSW	1	160,921,266 (GRCm39)	missense	possibly damaging	0.50
R7706:Klhl20	UTSW	1	160,936,827 (GRCm39)	missense	probably benign	0.01
R7976:Klhl20	UTSW	1	160,934,307 (GRCm39)	missense	probably benign	0.02
R7991:Klhl20	UTSW	1	160,934,434 (GRCm39)	missense	possibly damaging	0.89
R8085:Klhl20	UTSW	1	160,921,354 (GRCm39)	missense	probably damaging	1.00
R8118:Klhl20	UTSW	1	160,925,971 (GRCm39)	splice site	probably null
R8204:Klhl20	UTSW	1	160,934,414 (GRCm39)	missense	probably benign	0.04
R9093:Klhl20	UTSW	1	160,923,231 (GRCm39)	nonsense	probably null
R9094:Klhl20	UTSW	1	160,933,055 (GRCm39)	missense	probably damaging	1.00
R9360:Klhl20	UTSW	1	160,921,269 (GRCm39)	missense	probably benign	0.06
R9532:Klhl20	UTSW	1	160,937,329 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTTAGCAACTCACGGCAAG -3'
(R):5'- CTTGGAAGTGATCAACCTTCTGAG -3'

Sequencing Primer
(F):5'- CTCACGGCAAGAATGTGTGTC -3'
(R):5'- GTGATCAACCTTCTGAGAAAGC -3'

Posted On

2021-03-08