Mutagenetix > Incidental Mutations

Incidental Mutation 'R3902:Klhl26'

309239

Institutional Source

Beutler Lab

Gene Symbol

Klhl26

Ensembl Gene

ENSMUSG00000055707

Gene Name

kelch-like 26

Synonyms

MMRRC Submission

040811-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3902 (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 70452366 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 217 (D217G)

Ref Sequence

ENSEMBL: ENSMUSP00000147349 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000066597
AA Change: D298G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000069077
Gene: ENSMUSG00000055707
AA Change: D298G

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: D237G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129607
Gene: ENSMUSG00000055707
AA Change: D237G

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: D217G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000210250
AA Change: D264G

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atmin	A	G	8: 116,956,297	N232S	probably benign	Het
Brat1	A	C	5: 140,717,996	D668A	possibly damaging	Het
Eif2b3	C	T	4: 117,022,207	R15W	probably damaging	Het
Eprs	G	A	1: 185,379,742		probably null	Het
F5	A	G	1: 164,176,229	T198A	probably benign	Het
Fbxl20	T	A	11: 98,097,035	T61S	probably benign	Het
Fry	A	G	5: 150,345,927	E211G	probably damaging	Het
Gatd1	A	G	7: 141,409,101	L215P	probably damaging	Het
Gm14698	A	G	X: 68,821,647	M101V	probably benign	Het
Gm15922	G	A	7: 3,737,277	T315I	probably damaging	Het
Gys2	A	G	6: 142,472,800	M1T	probably null	Het
Hacd4	A	C	4: 88,437,501	I49R	probably damaging	Het
Jph3	G	T	8: 121,753,419	D279Y	possibly damaging	Het
Kmt2e	A	G	5: 23,501,642	N1401S	probably benign	Het
Mettl21a	C	T	1: 64,608,081	V106I	probably benign	Het
Mpdz	A	G	4: 81,307,116	V1427A	probably damaging	Het
Mug2	A	T	6: 122,075,567	D1024V	probably damaging	Het
Myl7	T	A	11: 5,898,430	K38M	probably damaging	Het
Myl7	T	G	11: 5,898,431	K38Q	probably damaging	Het
Myom2	T	C	8: 15,104,165	V701A	probably benign	Het
Nipbl	A	G	15: 8,350,246	S1021P	possibly damaging	Het
Optc	A	G	1: 133,897,963	M275T	probably benign	Het
Pclo	A	T	5: 14,712,522	T385S	probably benign	Het
Pdgfra	T	A	5: 75,192,508	N986K	probably benign	Het
Plekhn1	T	A	4: 156,225,669	I63F	possibly damaging	Het
Pogk	C	T	1: 166,403,624	V45I	probably damaging	Het
Rassf1	A	G	9: 107,554,840	Y21C	probably damaging	Het
Slc12a1	A	T	2: 125,188,193	I562F	probably damaging	Het
Slc16a6	A	G	11: 109,458,561	S141P	probably damaging	Het
Sntn	T	C	14: 13,679,084	L86P	probably damaging	Het
Taar4	T	A	10: 23,961,015	N174K	probably damaging	Het
Trav12-3	G	T	14: 53,622,029	C44F	probably damaging	Het
Triml2	A	G	8: 43,190,360	R240G	probably benign	Het
Vmn1r3	A	G	4: 3,185,241	M22T	probably benign	Het
Vmn2r7	C	A	3: 64,719,516	Q26H	possibly damaging	Het
Vmn2r72	T	C	7: 85,749,735	D470G	possibly damaging	Het
Xpo6	A	G	7: 126,120,409	Y602H	probably damaging	Het
Zfp287	T	C	11: 62,712,202	T241A	probably benign	Het
Zfp386	A	G	12: 116,060,155	K498E	probably damaging	Het
Zzef1	T	C	11: 72,908,500	L2392P	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
R4458:Klhl26	UTSW	8	70452692	missense	possibly damaging	0.89
R4459:Klhl26	UTSW	8	70451544	missense	probably damaging	1.00
R4460: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'- CGAAGTTATCCAGCACAGCC -3'
(R):5'- GTCTTCTTTCTGCAGAGCAACC -3'

Sequencing Primer
(F):5'- TATCCAGCACAGCCACGCC -3'
(R):5'- AGATTGACCTGTTCCGCG -3'

Posted On

2015-04-17