Mutagenetix > Incidental Mutation

Incidental Mutation 'R8480:Krt26'

657486

Institutional Source

Beutler Lab

Gene Symbol

Krt26

Ensembl Gene

ENSMUSG00000075570

Gene Name

keratin 26

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R8480 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99328550-99337966 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99337600 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 102 (E102G)

Ref Sequence

ENSEMBL: ENSMUSP00000098051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100482]

AlphaFold

Q3TRJ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000100482
AA Change: E102G

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

SMART Domains

Protein: ENSMUSP00000098051
Gene: ENSMUSG00000075570
AA Change: E102G

Domain	Start	End	E-Value	Type
low complexity region	40	65	N/A	INTRINSIC
Filament	79	394	1.1e-132	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (53/54)

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 keratin superfamily. This keratin protein is a type I keratin that is specific for the inner root sheath of the hair follicle. This gene exists in a cluster with other keratin genes on chromosome 17q21. [provided by RefSeq, Jul 2009]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	C	A	15: 8,187,458	P720Q	possibly damaging	Het
Acvr1b	G	A	15: 101,210,839	V499M	possibly damaging	Het
Adam5	G	A	8: 24,804,459	Q375*	probably null	Het
Adgrf1	G	A	17: 43,295,164	E60K	probably benign	Het
Alb	T	C	5: 90,462,771	V70A	probably damaging	Het
Aph1b	T	A	9: 66,788,427		probably benign	Het
Aste1	G	A	9: 105,396,990	R143Q	possibly damaging	Het
Aste1	A	T	9: 105,397,796	T351S	probably damaging	Het
Bace2	T	A	16: 97,413,470	L286Q	probably damaging	Het
Bach1	G	A	16: 87,719,275	G235R	probably damaging	Het
Brwd1	A	T	16: 96,047,430	H516Q	probably damaging	Het
Cc2d2a	C	A	5: 43,685,144		probably null	Het
Cdh22	T	A	2: 165,146,726	E236D	probably benign	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Celsr2	T	A	3: 108,398,902	T2029S	probably benign	Het
Col11a1	A	G	3: 114,181,394	D1234G	probably benign	Het
Cpt2	A	G	4: 107,907,760	I269T	probably damaging	Het
Dcaf7	T	A	11: 106,054,793	S323T	probably benign	Het
Ddias	G	T	7: 92,859,400	Q436K	probably benign	Het
Dlec1	G	A	9: 119,143,267		probably null	Het
Dock5	T	A	14: 67,836,410	I294F	probably benign	Het
Fat2	A	T	11: 55,282,968	D2306E	possibly damaging	Het
Gm4787	T	A	12: 81,377,506	D626V	probably damaging	Het
Gm6563	A	G	19: 23,675,926	T27A	probably benign	Het
Hadhb	T	C	5: 30,168,570		probably null	Het
Hsph1	A	T	5: 149,627,564	W406R	probably null	Het
Ighv1-66	C	T	12: 115,593,382	G27R	possibly damaging	Het
Impad1	C	T	4: 4,769,376	M246I	probably benign	Het
Krt34	T	A	11: 100,040,145		probably null	Het
Krt36	T	C	11: 100,102,809	D401G	possibly damaging	Het
Loxhd1	G	A	18: 77,431,131	G326S	probably damaging	Het
Lrrc8b	A	G	5: 105,485,936	N758S	probably damaging	Het
Mkl2	A	T	16: 13,384,192		probably null	Het
Muc4	C	T	16: 32,752,993	T957I	probably benign	Het
Naip5	T	C	13: 100,222,235	Y831C	probably damaging	Het
Nfatc1	A	T	18: 80,635,644	V829E	probably benign	Het
Nmnat1	G	A	4: 149,473,370	L72F	possibly damaging	Het
Olfr1316	A	T	2: 112,129,985	D275E	possibly damaging	Het
Pcdh7	T	A	5: 58,129,065	V1161E	probably damaging	Het
Raver1	A	G	9: 21,090,280	Y86H	probably benign	Het
Recql4	G	T	15: 76,704,505	H1035Q	probably benign	Het
Sgsm1	A	T	5: 113,263,418	M814K	probably benign	Het
Sh3d19	T	G	3: 86,084,877	W71G	probably benign	Het
Sidt1	T	C	16: 44,245,166	Y759C	probably damaging	Het
Spg11	G	T	2: 122,113,079	D197E	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,866,069		probably null	Het
Ssc5d	A	T	7: 4,936,329	D588V	probably damaging	Het
Supt20	C	A	3: 54,707,116	T181K	probably damaging	Het
Szt2	A	T	4: 118,386,818	S1363R	probably benign	Het
Tbcel	G	A	9: 42,463,873		probably null	Het
Ube2e3	T	C	2: 78,918,814	L169P	probably damaging	Het
Wrn	A	G	8: 33,288,768	F595S	probably benign	Het
Zfp473	G	T	7: 44,732,899	P670Q	probably damaging	Het
Zw10	C	T	9: 49,074,999	A660V	probably benign	Het

Other mutations in Krt26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00970:Krt26	APN	11	99331281	missense	probably benign	0.00
IGL02019:Krt26	APN	11	99333645	missense	probably benign	0.30
IGL02138:Krt26	APN	11	99333645	missense	probably benign	0.30
IGL02188:Krt26	APN	11	99333645	missense	probably benign	0.30
IGL02189:Krt26	APN	11	99333645	missense	probably benign	0.30
IGL02192:Krt26	APN	11	99333645	missense	probably benign	0.30
IGL02647:Krt26	APN	11	99333645	missense	probably benign	0.30
IGL02651:Krt26	APN	11	99333645	missense	probably benign	0.30
R0122:Krt26	UTSW	11	99333719	nonsense	probably null
R1842:Krt26	UTSW	11	99333526	small deletion	probably benign
R1843:Krt26	UTSW	11	99333526	small deletion	probably benign
R1923:Krt26	UTSW	11	99333526	small deletion	probably benign
R1924:Krt26	UTSW	11	99333526	small deletion	probably benign
R3872:Krt26	UTSW	11	99334744	missense	probably damaging	1.00
R3873:Krt26	UTSW	11	99334744	missense	probably damaging	1.00
R3874:Krt26	UTSW	11	99334744	missense	probably damaging	1.00
R3875:Krt26	UTSW	11	99334744	missense	probably damaging	1.00
R4014:Krt26	UTSW	11	99335302	missense	probably damaging	0.99
R4939:Krt26	UTSW	11	99334696	missense	probably benign	0.03
R5620:Krt26	UTSW	11	99337771	missense	possibly damaging	0.86
R6035:Krt26	UTSW	11	99333589	missense	probably benign	0.43
R6035:Krt26	UTSW	11	99333589	missense	probably benign	0.43
R6151:Krt26	UTSW	11	99337489	missense	probably benign	0.35
R6578:Krt26	UTSW	11	99334802	missense	probably damaging	1.00
R6626:Krt26	UTSW	11	99329702	missense	probably benign	0.28
R7413:Krt26	UTSW	11	99335061	missense	probably benign	0.25
R7557:Krt26	UTSW	11	99334741	missense	probably damaging	1.00
R7919:Krt26	UTSW	11	99333594	missense	probably damaging	1.00
R8051:Krt26	UTSW	11	99337846	missense	probably damaging	0.97
R8090:Krt26	UTSW	11	99336489	missense	probably benign	0.13
R8163:Krt26	UTSW	11	99329672	missense	probably benign	0.00
R8211:Krt26	UTSW	11	99335284	missense	probably damaging	0.98
R9040:Krt26	UTSW	11	99331267	missense	probably benign	0.00
R9418:Krt26	UTSW	11	99337915	start gained	probably benign
Z1186:Krt26	UTSW	11	99337817	missense	probably damaging	0.99
Z1191:Krt26	UTSW	11	99337817	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCTTTAAGTTATGCCCACCCCG -3'
(R):5'- ATCCAGGGTCTGTTCTCGAG -3'

Sequencing Primer
(F):5'- CCACCCCGGGCCTCTAG -3'
(R):5'- GGAAGGCAGCTTTTCTTGCACC -3'

Posted On

2021-01-18