Mutagenetix > Incidental Mutation

Incidental Mutation 'R7319:Klhl26'

568064

Institutional Source

Beutler Lab

Gene Symbol

Klhl26

Ensembl Gene

ENSMUSG00000055707

Gene Name

kelch-like 26

Synonyms

C630013N10Rik

MMRRC Submission

045415-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7319 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70902869-70929618 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70905592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 106 (R106H)

Ref Sequence

ENSEMBL: ENSMUSP00000069077 (fasta)

Gene Model

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

AlphaFold

Q8BGY4

Predicted Effect

probably damaging
Transcript: ENSMUST00000066597
AA Change: R106H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000069077
Gene: ENSMUSG00000055707
AA Change: R106H

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: R45H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129607
Gene: ENSMUSG00000055707
AA Change: R45H

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: R25H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000210250

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (79/82)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	A	T	14: 70,393,635 (GRCm39)	I287N	probably benign	Het
Aco2	G	T	15: 81,787,820 (GRCm39)	E223D	probably damaging	Het
Acsf3	T	A	8: 123,539,770 (GRCm39)	I466N	probably damaging	Het
Albfm1	G	A	5: 90,719,625 (GRCm39)		probably null	Het
Aox3	T	A	1: 58,191,761 (GRCm39)	F438I	probably benign	Het
Arhgap33	T	C	7: 30,225,794 (GRCm39)	T591A	probably benign	Het
Ash1l	C	T	3: 88,888,694 (GRCm39)	A191V	probably benign	Het
Btg2	T	C	1: 134,006,779 (GRCm39)	K5E	probably benign	Het
C1galt1	T	A	6: 7,871,150 (GRCm39)	Y329N	probably damaging	Het
Cacna1h	A	G	17: 25,608,435 (GRCm39)	I824T	possibly damaging	Het
Carmil3	A	G	14: 55,731,817 (GRCm39)	I182V	probably benign	Het
Ccdc150	T	A	1: 54,302,496 (GRCm39)		probably null	Het
Chek1	T	A	9: 36,633,939 (GRCm39)	R129W	probably damaging	Het
Chrna6	A	G	8: 27,896,815 (GRCm39)	M354T	possibly damaging	Het
Cpq	A	G	15: 33,250,185 (GRCm39)	T181A	probably benign	Het
Csmd2	A	T	4: 128,287,472 (GRCm39)	Y1069F		Het
Defb28	T	A	2: 152,361,974 (GRCm39)	C45S	possibly damaging	Het
Dnah1	A	G	14: 31,018,551 (GRCm39)	Y1360H	probably benign	Het
Dnah7c	T	C	1: 46,823,608 (GRCm39)	V3749A	possibly damaging	Het
Dnah7c	T	A	1: 46,819,935 (GRCm39)	D3728E	probably benign	Het
Dym	G	A	18: 75,196,245 (GRCm39)		probably null	Het
Dync2i2	G	A	2: 29,928,341 (GRCm39)	P95L	probably benign	Het
Dzip3	A	G	16: 48,747,903 (GRCm39)		probably null	Het
Eef1akmt4	A	G	16: 20,436,666 (GRCm39)	K163E	probably benign	Het
Fbrs	A	G	7: 127,081,985 (GRCm39)	T242A	possibly damaging	Het
Fgfr3	G	A	5: 33,885,146 (GRCm39)	V87M	possibly damaging	Het
Fst	A	T	13: 114,595,068 (GRCm39)	C19S	probably benign	Het
Gm7276	G	A	18: 77,273,216 (GRCm39)	R173W	unknown	Het
Gm9195	G	A	14: 72,697,929 (GRCm39)	H1284Y	probably benign	Het
Herc6	C	A	6: 57,581,074 (GRCm39)	T258K	probably damaging	Het
Hip1r	A	G	5: 124,137,174 (GRCm39)	Y678C	probably damaging	Het
Ifne	A	T	4: 88,798,243 (GRCm39)	N58K	probably damaging	Het
Ighv1-26	A	T	12: 114,752,163 (GRCm39)	H60Q	possibly damaging	Het
Ints1	A	G	5: 139,746,520 (GRCm39)	F1276L	probably damaging	Het
Itprid2	A	T	2: 79,466,416 (GRCm39)	D82V	probably damaging	Het
Kcnc4	T	A	3: 107,366,100 (GRCm39)	E36V	probably benign	Het
Kcnq2	C	T	2: 180,750,895 (GRCm39)	G315S	probably damaging	Het
Kdm4c	G	A	4: 74,255,200 (GRCm39)	V585M	probably damaging	Het
Kmo	T	C	1: 175,481,221 (GRCm39)	F313S	probably damaging	Het
Lmtk3	T	A	7: 45,443,740 (GRCm39)	S808T	unknown	Het
Lrch3	A	G	16: 32,815,363 (GRCm39)	T585A	probably benign	Het
Lrch4	T	A	5: 137,637,977 (GRCm39)	H86Q		Het
Map3k20	A	G	2: 72,195,062 (GRCm39)	D113G	probably damaging	Het
Mbd3l1	T	C	9: 18,396,417 (GRCm39)	S181P	probably benign	Het
Mccc2	T	C	13: 100,104,241 (GRCm39)	T303A	probably benign	Het
Med27	A	G	2: 29,303,490 (GRCm39)	R147G	possibly damaging	Het
Mrps5	T	A	2: 127,437,762 (GRCm39)	S196R	possibly damaging	Het
Muc21	GGGGTGGGCATAGATCCTGAGGCAGAGCTGGATGCAGTGGTGGTCAGGGTGGG	GGGGTGGG	17: 35,932,935 (GRCm39)		probably benign	Het
Myo16	A	T	8: 10,526,185 (GRCm39)		probably null	Het
Nudt2	A	T	4: 41,477,575 (GRCm39)	M19L	probably benign	Het
Pcdha11	C	T	18: 37,146,245 (GRCm39)	P779S	probably benign	Het
Phykpl	A	G	11: 51,489,530 (GRCm39)	T379A	probably benign	Het
Plekha8	A	C	6: 54,601,206 (GRCm39)	M270L	probably benign	Het
Plekhg5	A	G	4: 152,192,885 (GRCm39)	H593R	probably benign	Het
Polr2a	T	C	11: 69,637,196 (GRCm39)	N293S	possibly damaging	Het
Pramel32	G	A	4: 88,548,184 (GRCm39)	P74S	probably benign	Het
Prex2	T	A	1: 11,232,532 (GRCm39)	N866K	probably benign	Het
Psme4	A	T	11: 30,757,790 (GRCm39)	I308L	probably benign	Het
Ptprb	T	C	10: 116,177,309 (GRCm39)	V1003A	probably benign	Het
Rbbp8	T	A	18: 11,865,269 (GRCm39)	D719E	probably damaging	Het
Rnaset2b	A	T	17: 7,259,166 (GRCm39)	D144V	probably benign	Het
Senp6	T	G	9: 80,033,481 (GRCm39)	D662E	probably damaging	Het
Serpinb3c	T	C	1: 107,200,817 (GRCm39)	N200S	possibly damaging	Het
Serpinb9g	C	G	13: 33,672,543 (GRCm39)	Y113*	probably null	Het
Sgf29	T	C	7: 126,270,821 (GRCm39)	I134T	probably benign	Het
Sh3bp4	T	G	1: 89,080,824 (GRCm39)		probably null	Het
Stab1	G	A	14: 30,862,783 (GRCm39)	L2243F	probably damaging	Het
Sympk	T	C	7: 18,769,770 (GRCm39)	V149A	probably benign	Het
Syt3	C	T	7: 44,041,953 (GRCm39)	Q271*	probably null	Het
Tas2r109	A	G	6: 132,957,663 (GRCm39)	I89T	probably benign	Het
Tgif1	A	G	17: 71,151,847 (GRCm39)	S255P	probably damaging	Het
Tm9sf1	G	A	14: 55,875,432 (GRCm39)		probably benign	Het
Tnf	A	G	17: 35,419,347 (GRCm39)	F161S	possibly damaging	Het
Topaz1	T	A	9: 122,579,428 (GRCm39)	S779R	possibly damaging	Het
Topors	A	G	4: 40,260,540 (GRCm39)	S915P	unknown	Het
Tpm4	C	T	8: 72,900,321 (GRCm39)	L161F	probably damaging	Het
Trim38	C	T	13: 23,975,384 (GRCm39)	T441I	probably damaging	Het
Trpv1	A	G	11: 73,141,620 (GRCm39)	M548V	probably benign	Het
Vmn2r68	T	A	7: 84,883,042 (GRCm39)	T237S	probably benign	Het
Zc3hav1	A	G	6: 38,309,209 (GRCm39)	S538P	probably benign	Het
Zfp541	C	T	7: 15,813,294 (GRCm39)	T649I	probably benign	Het

Other mutations in Klhl26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01655:Klhl26	APN	8	70,904,533 (GRCm39)	missense	probably damaging	1.00
IGL02508:Klhl26	APN	8	70,905,381 (GRCm39)	missense	probably damaging	1.00
IGL03089:Klhl26	APN	8	70,908,283 (GRCm39)	missense	probably benign	0.05
IGL03144:Klhl26	APN	8	70,905,214 (GRCm39)	missense	probably damaging	1.00
R0365:Klhl26	UTSW	8	70,904,479 (GRCm39)	missense	probably damaging	1.00
R0408:Klhl26	UTSW	8	70,905,130 (GRCm39)	missense	probably damaging	1.00
R0494:Klhl26	UTSW	8	70,904,251 (GRCm39)	missense	probably damaging	1.00
R1889:Klhl26	UTSW	8	70,904,383 (GRCm39)	missense	probably damaging	0.99
R1940:Klhl26	UTSW	8	70,904,911 (GRCm39)	missense	probably damaging	1.00
R3902:Klhl26	UTSW	8	70,905,016 (GRCm39)	missense	probably damaging	0.98
R4458:Klhl26	UTSW	8	70,905,342 (GRCm39)	missense	possibly damaging	0.89
R4459:Klhl26	UTSW	8	70,904,194 (GRCm39)	missense	probably damaging	1.00
R4460:Klhl26	UTSW	8	70,904,194 (GRCm39)	missense	probably damaging	1.00
R4461:Klhl26	UTSW	8	70,904,194 (GRCm39)	missense	probably damaging	1.00
R5135:Klhl26	UTSW	8	70,905,368 (GRCm39)	missense	probably benign	0.19
R5334:Klhl26	UTSW	8	70,904,968 (GRCm39)	missense	probably damaging	1.00
R5342:Klhl26	UTSW	8	70,908,215 (GRCm39)	missense	probably damaging	1.00
R5711:Klhl26	UTSW	8	70,904,974 (GRCm39)	missense	probably damaging	0.98
R5724:Klhl26	UTSW	8	70,904,404 (GRCm39)	missense	probably damaging	1.00
R5965:Klhl26	UTSW	8	70,905,381 (GRCm39)	missense	probably damaging	1.00
R7390:Klhl26	UTSW	8	70,905,499 (GRCm39)	missense	probably damaging	0.98
R8917:Klhl26	UTSW	8	70,905,455 (GRCm39)	missense	possibly damaging	0.90
R9115:Klhl26	UTSW	8	70,904,896 (GRCm39)	missense	possibly damaging	0.80
R9386:Klhl26	UTSW	8	70,904,156 (GRCm39)	missense	probably benign	0.32
R9471:Klhl26	UTSW	8	70,904,803 (GRCm39)	missense	probably damaging	1.00
R9545:Klhl26	UTSW	8	70,904,164 (GRCm39)	missense	probably damaging	1.00
Z1088:Klhl26	UTSW	8	70,904,449 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCAGTGATGTCAGGCTGAAG -3'
(R):5'- AACCTACCAGTTAGCCTTCAG -3'

Sequencing Primer
(F):5'- GCTGAAGGTGGTAGCCATC -3'
(R):5'- CCTTCAGGGCTGGGGGC -3'

Posted On

2019-06-26