Mutagenetix > Incidental Mutation

Incidental Mutation 'R4894:Klhl20'

377458

Institutional Source

Beutler Lab

Gene Symbol

Klhl20

Ensembl Gene

ENSMUSG00000026705

Gene Name

kelch-like 20

Synonyms

D930050H05Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.613) question?

Stock #

R4894 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

160915945-160959078 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 160937102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 91 (M91K)

Ref Sequence

ENSEMBL: ENSMUSP00000114044 (fasta)

Gene Model

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

AlphaFold

Q8VCK5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111611
AA Change: M91K

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107238
Gene: ENSMUSG00000026705
AA Change: M91K

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

possibly damaging
Transcript: ENSMUST00000117467
AA Change: M91K

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000114044
Gene: ENSMUSG00000026705
AA Change: M91K

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

noncoding transcript
Transcript: ENSMUST00000140905

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145736

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148952

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	C	A	17: 43,609,975 (GRCm39)	Y176*	probably null	Het
Akap13	T	A	7: 75,375,068 (GRCm39)	M1900K	possibly damaging	Het
Ankrd36	A	G	11: 5,585,332 (GRCm39)	E381G	probably damaging	Het
Ap3s1	T	C	18: 46,891,183 (GRCm39)		probably null	Het
Cacna1e	G	T	1: 154,364,551 (GRCm39)	S341*	probably null	Het
Camk1d	G	A	2: 5,359,539 (GRCm39)	S161L	probably damaging	Het
Cdh23	G	T	10: 60,173,630 (GRCm39)	H1619Q	probably benign	Het
Chd7	T	A	4: 8,838,629 (GRCm39)	I1276N	probably damaging	Het
Clca3a1	A	G	3: 144,719,662 (GRCm39)	V436A	probably damaging	Het
Ctcfl	G	A	2: 172,959,196 (GRCm39)	P177S	probably benign	Het
Dab2ip	A	G	2: 35,620,539 (GRCm39)		probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Epc1	A	T	18: 6,449,011 (GRCm39)	S495R	probably benign	Het
Espl1	A	G	15: 102,230,758 (GRCm39)		probably null	Het
Eya4	T	C	10: 22,985,753 (GRCm39)	E583G	possibly damaging	Het
Fam111a	C	G	19: 12,565,913 (GRCm39)	T554R	probably benign	Het
Fbh1	A	T	2: 11,767,771 (GRCm39)	I359N	probably damaging	Het
Fer1l6	T	C	15: 58,490,751 (GRCm39)	C1023R	probably damaging	Het
Helz2	G	C	2: 180,877,940 (GRCm39)	P953A	probably benign	Het
Ifi204	G	T	1: 173,587,808 (GRCm39)	S117Y	probably damaging	Het
Ift70a1	T	C	2: 75,810,088 (GRCm39)	*665W	probably null	Het
Igfn1	G	A	1: 135,882,520 (GRCm39)	T2775M	probably damaging	Het
Igsf9	A	G	1: 172,325,634 (GRCm39)	T1101A	probably benign	Het
Ipo13	A	C	4: 117,760,638 (GRCm39)	I614S	probably damaging	Het
Ipo13	A	G	4: 117,761,687 (GRCm39)	I476T	possibly damaging	Het
Kdm2b	C	A	5: 123,079,030 (GRCm39)	E308*	probably null	Het
Klrb1f	T	C	6: 129,030,151 (GRCm39)	F64L	probably benign	Het
Ldlrad3	C	T	2: 101,888,293 (GRCm39)	C106Y	probably damaging	Het
Lilra6	T	C	7: 3,915,530 (GRCm39)	T161A	probably benign	Het
Lrriq1	A	T	10: 102,997,613 (GRCm39)	M1334K	possibly damaging	Het
Mepe	C	G	5: 104,473,268 (GRCm39)	P3R	probably damaging	Het
Mgat4e	A	G	1: 134,468,856 (GRCm39)	V396A	probably benign	Het
Nfx1	T	G	4: 40,996,877 (GRCm39)	S651A	probably damaging	Het
Or10ak13	A	T	4: 118,639,483 (GRCm39)	C100S	probably damaging	Het
Or2w6	T	C	13: 21,843,352 (GRCm39)	N47S	probably damaging	Het
Or4c109	T	C	2: 88,817,783 (GRCm39)	I254M	possibly damaging	Het
Rag2	T	C	2: 101,460,022 (GRCm39)	S111P	probably damaging	Het
Rai1	T	A	11: 60,077,572 (GRCm39)	D545E	probably damaging	Het
Ralgps1	A	G	2: 33,033,115 (GRCm39)	V498A	possibly damaging	Het
Rasal2	G	A	1: 157,020,374 (GRCm39)	S205L	probably damaging	Het
Rec8	T	C	14: 55,862,787 (GRCm39)	L582P	probably damaging	Het
Retn	G	A	8: 3,707,358 (GRCm39)	R106H	probably damaging	Het
Rnf112	A	G	11: 61,343,488 (GRCm39)	L116P	probably damaging	Het
Rnf213	T	C	11: 119,372,066 (GRCm39)	Y4885H	probably damaging	Het
Sacm1l	A	G	9: 123,411,409 (GRCm39)	I399M	probably benign	Het
Sez6	G	T	11: 77,866,086 (GRCm39)	G738V	probably damaging	Het
Spata17	A	G	1: 186,872,643 (GRCm39)	V56A	probably benign	Het
Spata31d1a	A	T	13: 59,849,542 (GRCm39)	V862D	probably damaging	Het
Sptb	A	G	12: 76,671,768 (GRCm39)		probably null	Het
Srpk2	C	A	5: 23,750,527 (GRCm39)	G59W	probably damaging	Het
Tyro3	T	C	2: 119,632,779 (GRCm39)	S96P	probably damaging	Het
Ube2v1	A	G	2: 167,452,280 (GRCm39)	S108P	probably damaging	Het
Usp2	C	T	9: 43,987,125 (GRCm39)	S141L	probably benign	Het
Vamp5	T	C	6: 72,347,181 (GRCm39)	D46G	possibly damaging	Het
Vmn1r23	T	A	6: 57,903,310 (GRCm39)	Q156L	probably benign	Het
Vmn2r6	C	T	3: 64,454,829 (GRCm39)	S490N	probably benign	Het
Vps39	A	T	2: 120,183,440 (GRCm39)	I10N	probably damaging	Het
Vwf	C	T	6: 125,622,897 (GRCm39)	Q1755*	probably null	Het
Wdfy4	A	T	14: 32,877,717 (GRCm39)	H82Q	probably benign	Het
Wdr24	T	C	17: 26,045,101 (GRCm39)	Y279H	probably damaging	Het
Wdr72	A	G	9: 74,117,843 (GRCm39)	T852A	probably benign	Het
Zfp1	T	A	8: 112,396,355 (GRCm39)	C92*	probably null	Het
Zfp1004	T	A	2: 150,033,899 (GRCm39)	C104*	probably null	Het
Zfp426	A	T	9: 20,386,369 (GRCm39)		probably benign	Het
Zfp442	C	T	2: 150,253,130 (GRCm39)		probably null	Het
Zfp74	T	C	7: 29,635,470 (GRCm39)		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
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
R8678:Klhl20	UTSW	1	160,936,997 (GRCm39)	missense	probably damaging	1.00
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'- GTATTTCTGCCAGCTGGAGG -3'
(R):5'- ATGTAACAAGCCGCTGCAC -3'

Sequencing Primer
(F):5'- CCAGCTGGAGGAGGCAAGC -3'
(R):5'- CAAGCTGCCAGAAGGGGTTC -3'

Posted On

2016-03-17