Mutagenetix > Incidental Mutation

Incidental Mutation 'R8480:Krt26'

657486

Institutional Source

Beutler Lab

Gene Symbol

Krt26

Ensembl Gene

ENSMUSG00000075570

Gene Name

keratin 26

Synonyms

4732407F15Rik

MMRRC Submission

067924-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R8480 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99219376-99228792 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99228426 bp (GRCm39)

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
Acvr1b	G	A	15: 101,108,720 (GRCm39)	V499M	possibly damaging	Het
Adam5	G	A	8: 25,294,475 (GRCm39)	Q375*	probably null	Het
Adgrf1	G	A	17: 43,606,055 (GRCm39)	E60K	probably benign	Het
Alb	T	C	5: 90,610,630 (GRCm39)	V70A	probably damaging	Het
Aph1b	T	A	9: 66,695,709 (GRCm39)		probably benign	Het
Aste1	G	A	9: 105,274,189 (GRCm39)	R143Q	possibly damaging	Het
Aste1	A	T	9: 105,274,995 (GRCm39)	T351S	probably damaging	Het
Bace2	T	A	16: 97,214,670 (GRCm39)	L286Q	probably damaging	Het
Bach1	G	A	16: 87,516,163 (GRCm39)	G235R	probably damaging	Het
Bpnt2	C	T	4: 4,769,376 (GRCm39)	M246I	probably benign	Het
Brwd1	A	T	16: 95,848,630 (GRCm39)	H516Q	probably damaging	Het
Cc2d2a	C	A	5: 43,842,486 (GRCm39)		probably null	Het
Cdh22	T	A	2: 164,988,646 (GRCm39)	E236D	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Celsr2	T	A	3: 108,306,218 (GRCm39)	T2029S	probably benign	Het
Col11a1	A	G	3: 113,975,043 (GRCm39)	D1234G	probably benign	Het
Cplane1	C	A	15: 8,216,942 (GRCm39)	P720Q	possibly damaging	Het
Cpt2	A	G	4: 107,764,957 (GRCm39)	I269T	probably damaging	Het
Dcaf7	T	A	11: 105,945,619 (GRCm39)	S323T	probably benign	Het
Ddias	G	T	7: 92,508,608 (GRCm39)	Q436K	probably benign	Het
Dlec1	G	A	9: 118,972,335 (GRCm39)		probably null	Het
Dock5	T	A	14: 68,073,859 (GRCm39)	I294F	probably benign	Het
Fat2	A	T	11: 55,173,794 (GRCm39)	D2306E	possibly damaging	Het
Gm4787	T	A	12: 81,424,280 (GRCm39)	D626V	probably damaging	Het
Gm6563	A	G	19: 23,653,290 (GRCm39)	T27A	probably benign	Het
Hadhb	T	C	5: 30,373,568 (GRCm39)		probably null	Het
Hsph1	A	T	5: 149,551,029 (GRCm39)	W406R	probably null	Het
Ighv1-66	C	T	12: 115,557,002 (GRCm39)	G27R	possibly damaging	Het
Krt34	T	A	11: 99,930,971 (GRCm39)		probably null	Het
Krt36	T	C	11: 99,993,635 (GRCm39)	D401G	possibly damaging	Het
Loxhd1	G	A	18: 77,518,827 (GRCm39)	G326S	probably damaging	Het
Lrrc8b	A	G	5: 105,633,802 (GRCm39)	N758S	probably damaging	Het
Mrtfb	A	T	16: 13,202,056 (GRCm39)		probably null	Het
Muc4	C	T	16: 32,574,421 (GRCm39)	T957I	probably benign	Het
Naip5	T	C	13: 100,358,743 (GRCm39)	Y831C	probably damaging	Het
Nfatc1	A	T	18: 80,678,859 (GRCm39)	V829E	probably benign	Het
Nmnat1	G	A	4: 149,557,827 (GRCm39)	L72F	possibly damaging	Het
Or4f14d	A	T	2: 111,960,330 (GRCm39)	D275E	possibly damaging	Het
Pcdh7	T	A	5: 58,286,407 (GRCm39)	V1161E	probably damaging	Het
Raver1	A	G	9: 21,001,576 (GRCm39)	Y86H	probably benign	Het
Recql4	G	T	15: 76,588,705 (GRCm39)	H1035Q	probably benign	Het
Sgsm1	A	T	5: 113,411,284 (GRCm39)	M814K	probably benign	Het
Sh3d19	T	G	3: 85,992,184 (GRCm39)	W71G	probably benign	Het
Sidt1	T	C	16: 44,065,529 (GRCm39)	Y759C	probably damaging	Het
Spg11	G	T	2: 121,943,560 (GRCm39)	D197E	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Ssc5d	A	T	7: 4,939,328 (GRCm39)	D588V	probably damaging	Het
Supt20	C	A	3: 54,614,537 (GRCm39)	T181K	probably damaging	Het
Szt2	A	T	4: 118,244,015 (GRCm39)	S1363R	probably benign	Het
Tbcel	G	A	9: 42,375,169 (GRCm39)		probably null	Het
Ube2e3	T	C	2: 78,749,158 (GRCm39)	L169P	probably damaging	Het
Wrn	A	G	8: 33,778,796 (GRCm39)	F595S	probably benign	Het
Zfp473	G	T	7: 44,382,323 (GRCm39)	P670Q	probably damaging	Het
Zw10	C	T	9: 48,986,299 (GRCm39)	A660V	probably benign	Het

Other mutations in Krt26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00970:Krt26	APN	11	99,222,107 (GRCm39)	missense	probably benign	0.00
IGL02019:Krt26	APN	11	99,224,471 (GRCm39)	missense	probably benign	0.30
IGL02138:Krt26	APN	11	99,224,471 (GRCm39)	missense	probably benign	0.30
IGL02188:Krt26	APN	11	99,224,471 (GRCm39)	missense	probably benign	0.30
IGL02189:Krt26	APN	11	99,224,471 (GRCm39)	missense	probably benign	0.30
IGL02192:Krt26	APN	11	99,224,471 (GRCm39)	missense	probably benign	0.30
IGL02647:Krt26	APN	11	99,224,471 (GRCm39)	missense	probably benign	0.30
IGL02651:Krt26	APN	11	99,224,471 (GRCm39)	missense	probably benign	0.30
R0122:Krt26	UTSW	11	99,224,545 (GRCm39)	nonsense	probably null
R1842:Krt26	UTSW	11	99,224,352 (GRCm39)	small deletion	probably benign
R1843:Krt26	UTSW	11	99,224,352 (GRCm39)	small deletion	probably benign
R1923:Krt26	UTSW	11	99,224,352 (GRCm39)	small deletion	probably benign
R1924:Krt26	UTSW	11	99,224,352 (GRCm39)	small deletion	probably benign
R3872:Krt26	UTSW	11	99,225,570 (GRCm39)	missense	probably damaging	1.00
R3873:Krt26	UTSW	11	99,225,570 (GRCm39)	missense	probably damaging	1.00
R3874:Krt26	UTSW	11	99,225,570 (GRCm39)	missense	probably damaging	1.00
R3875:Krt26	UTSW	11	99,225,570 (GRCm39)	missense	probably damaging	1.00
R4014:Krt26	UTSW	11	99,226,128 (GRCm39)	missense	probably damaging	0.99
R4939:Krt26	UTSW	11	99,225,522 (GRCm39)	missense	probably benign	0.03
R5620:Krt26	UTSW	11	99,228,597 (GRCm39)	missense	possibly damaging	0.86
R6035:Krt26	UTSW	11	99,224,415 (GRCm39)	missense	probably benign	0.43
R6035:Krt26	UTSW	11	99,224,415 (GRCm39)	missense	probably benign	0.43
R6151:Krt26	UTSW	11	99,228,315 (GRCm39)	missense	probably benign	0.35
R6578:Krt26	UTSW	11	99,225,628 (GRCm39)	missense	probably damaging	1.00
R6626:Krt26	UTSW	11	99,220,528 (GRCm39)	missense	probably benign	0.28
R7413:Krt26	UTSW	11	99,225,887 (GRCm39)	missense	probably benign	0.25
R7557:Krt26	UTSW	11	99,225,567 (GRCm39)	missense	probably damaging	1.00
R7919:Krt26	UTSW	11	99,224,420 (GRCm39)	missense	probably damaging	1.00
R8051:Krt26	UTSW	11	99,228,672 (GRCm39)	missense	probably damaging	0.97
R8090:Krt26	UTSW	11	99,227,315 (GRCm39)	missense	probably benign	0.13
R8163:Krt26	UTSW	11	99,220,498 (GRCm39)	missense	probably benign	0.00
R8211:Krt26	UTSW	11	99,226,110 (GRCm39)	missense	probably damaging	0.98
R9040:Krt26	UTSW	11	99,222,093 (GRCm39)	missense	probably benign	0.00
R9418:Krt26	UTSW	11	99,228,741 (GRCm39)	start gained	probably benign
Z1186:Krt26	UTSW	11	99,228,643 (GRCm39)	missense	probably damaging	0.99
Z1191:Krt26	UTSW	11	99,228,643 (GRCm39)	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