Mutagenetix > Incidental Mutations

Incidental Mutation 'R4460:Klhl26'

330108

Institutional Source

Beutler Lab

Gene Symbol

Klhl26

Ensembl Gene

ENSMUSG00000055707

Gene Name

kelch-like 26

Synonyms

MMRRC Submission

041719-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4460 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70450219-70476968 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70451544 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 538 (Y538C)

Ref Sequence

ENSEMBL: ENSMUSP00000147385 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066597] [ENSMUST00000166976] [ENSMUST00000209415] [ENSMUST00000209567] [ENSMUST00000210250]

Predicted Effect

probably damaging
Transcript: ENSMUST00000066597
AA Change: Y572C

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

SMART Domains

Protein: ENSMUSP00000069077
Gene: ENSMUSG00000055707
AA Change: Y572C

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
BTB	54	151	1.56e-26	SMART
BACK	156	257	1.62e-28	SMART
Blast:Kelch	301	352	4e-27	BLAST
Kelch	353	404	1.44e0	SMART
Kelch	405	451	2.86e-4	SMART
Kelch	452	499	1.21e-2	SMART
Kelch	500	550	4.27e-3	SMART
Kelch	551	597	4.93e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000166976
AA Change: Y511C

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

SMART Domains

Protein: ENSMUSP00000129607
Gene: ENSMUSG00000055707
AA Change: Y511C

Domain	Start	End	E-Value	Type
Pfam:BTB	19	89	1.7e-13	PFAM
BACK	95	196	1.62e-28	SMART
Blast:Kelch	240	291	4e-27	BLAST
Kelch	292	343	1.44e0	SMART
Kelch	344	390	2.86e-4	SMART
Kelch	391	438	1.21e-2	SMART
Kelch	439	489	4.27e-3	SMART
Kelch	490	536	4.93e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000209415

Predicted Effect

probably damaging
Transcript: ENSMUST00000209567
AA Change: Y491C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000210250
AA Change: Y538C

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

Meta Mutation Damage Score

0.9440

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	C	T	7: 28,152,856	T1268I	probably benign	Het
A830010M20Rik	A	G	5: 107,503,765	T687A	possibly damaging	Het
C030048H21Rik	A	G	2: 26,255,863		probably null	Het
Cav1	A	G	6: 17,306,472	D8G	probably damaging	Het
Celf6	G	A	9: 59,603,044	R103H	probably damaging	Het
Ctr9	A	G	7: 111,046,894	I698V	probably benign	Het
Cts6	G	C	13: 61,195,458	I316M	probably benign	Het
Dnajc13	C	A	9: 104,181,063	R1496L	probably damaging	Het
Dscam	A	G	16: 96,610,319	Y1786H	probably damaging	Het
Itga2	C	G	13: 114,843,483	D1061H	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Ltk	A	G	2: 119,755,613		probably null	Het
Med20	T	C	17: 47,618,917	V93A	probably benign	Het
Mmp9	G	T	2: 164,949,038	K115N	probably damaging	Het
Mroh5	A	T	15: 73,791,796	D339E	probably damaging	Het
Muc1	A	T	3: 89,231,563	D493V	probably damaging	Het
Mx1	G	T	16: 97,454,081	S113R	probably damaging	Het
Nlrp9c	T	A	7: 26,378,098	H698L	probably damaging	Het
Nol9	T	G	4: 152,057,836	L641R	probably damaging	Het
Park2	A	T	17: 12,061,646	D463V	probably damaging	Het
Pla2g4e	T	G	2: 120,186,382	H226P	possibly damaging	Het
Pou2f1	A	G	1: 165,895,006	F337L	probably damaging	Het
Ptcd1	G	T	5: 145,159,506	A259E	probably benign	Het
Ptov1	T	C	7: 44,865,576	M204V	probably benign	Het
Rasal2	A	G	1: 157,175,832	F419S	possibly damaging	Het
Rbbp8nl	A	G	2: 180,280,971	S210P	probably benign	Het
Rgmb	C	A	17: 15,807,626	R277L	probably benign	Het
Snx2	A	G	18: 53,176,444	E22G	probably benign	Het
Snx30	A	T	4: 59,885,022	R221*	probably null	Het
Tmem143	C	T	7: 45,906,952	T97I	probably damaging	Het
Ttn	A	C	2: 76,814,647	F12955V	probably damaging	Het
Ubr2	C	T	17: 46,945,045		probably null	Het
Vmn1r203	T	A	13: 22,524,682	M211K	probably damaging	Het
Vmn2r121	G	A	X: 124,128,584	P580S	probably benign	Het
Zfp804b	A	T	5: 6,771,481	D491E	probably damaging	Het

Other mutations in Klhl26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01655:Klhl26	APN	8	70451883	missense	probably damaging	1.00
IGL02508:Klhl26	APN	8	70452731	missense	probably damaging	1.00
IGL03089:Klhl26	APN	8	70455633	missense	probably benign	0.05
IGL03144:Klhl26	APN	8	70452564	missense	probably damaging	1.00
R0365:Klhl26	UTSW	8	70451829	missense	probably damaging	1.00
R0408:Klhl26	UTSW	8	70452480	missense	probably damaging	1.00
R0494:Klhl26	UTSW	8	70451601	missense	probably damaging	1.00
R1889:Klhl26	UTSW	8	70451733	missense	probably damaging	0.99
R1940:Klhl26	UTSW	8	70452261	missense	probably damaging	1.00
R3902:Klhl26	UTSW	8	70452366	missense	probably damaging	0.98
R4458:Klhl26	UTSW	8	70452692	missense	possibly damaging	0.89
R4459:Klhl26	UTSW	8	70451544	missense	probably damaging	1.00
R4461:Klhl26	UTSW	8	70451544	missense	probably damaging	1.00
R5135:Klhl26	UTSW	8	70452718	missense	probably benign	0.19
R5334:Klhl26	UTSW	8	70452318	missense	probably damaging	1.00
R5342:Klhl26	UTSW	8	70455565	missense	probably damaging	1.00
R5711:Klhl26	UTSW	8	70452324	missense	probably damaging	0.98
R5724:Klhl26	UTSW	8	70451754	missense	probably damaging	1.00
R5965:Klhl26	UTSW	8	70452731	missense	probably damaging	1.00
R7319:Klhl26	UTSW	8	70452942	missense	probably damaging	0.99
R7390:Klhl26	UTSW	8	70452849	missense	probably damaging	0.98
Z1088:Klhl26	UTSW	8	70451799	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATGGCACCTAAACCTTGGGG -3'
(R):5'- CTGCAGTGCTATGATCCAGC -3'

Sequencing Primer
(F):5'- GGGACCAGATCTCTCTCTCTG -3'
(R):5'- TGCTATGATCCAGCAGCCGAC -3'

Posted On

2015-07-21