Mutagenetix > Incidental Mutation

Incidental Mutation 'R3875:Krt26'

276809

Institutional Source

Beutler Lab

Gene Symbol

Krt26

Ensembl Gene

ENSMUSG00000075570

Gene Name

keratin 26

Synonyms

4732407F15Rik

MMRRC Submission

068967-MU

Accession Numbers

Essential gene?

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

Stock #

R3875 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99219376-99228792 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99225570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 304 (K304E)

Ref Sequence

ENSEMBL: ENSMUSP00000098051 (fasta)

Gene Model

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

AlphaFold

Q3TRJ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000100482
AA Change: K304E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098051
Gene: ENSMUSG00000075570
AA Change: K304E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148770

Meta Mutation Damage Score

0.6276

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

100% (50/50)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	T	C	2: 152,276,000 (GRCm39)	S72P	probably benign	Het
Abca5	T	A	11: 110,201,059 (GRCm39)	Y447F	probably damaging	Het
Adgrg2	A	G	X: 159,261,992 (GRCm39)	S337G	probably benign	Het
Akap12	G	A	10: 4,307,590 (GRCm39)	V1467I	probably benign	Het
Baz2a	T	A	10: 127,959,979 (GRCm39)	M1419K	probably damaging	Het
Cacna1g	G	A	11: 94,328,749 (GRCm39)	T1033I	probably damaging	Het
Car12	C	A	9: 66,624,834 (GRCm39)		probably benign	Het
Cpne1	G	A	2: 155,918,202 (GRCm39)	H352Y	probably damaging	Het
D630039A03Rik	T	A	4: 57,910,606 (GRCm39)	T69S	probably benign	Het
Dhodh	T	C	8: 110,321,592 (GRCm39)	D310G	probably null	Het
Dnah2	A	G	11: 69,320,174 (GRCm39)	I3965T	probably damaging	Het
Drd5	T	G	5: 38,477,157 (GRCm39)	V50G	possibly damaging	Het
Dst	C	A	1: 34,210,328 (GRCm39)	H934Q	probably damaging	Het
Eif1ad10	T	C	12: 88,216,476 (GRCm39)	D132G	unknown	Het
Far2	G	A	6: 148,052,089 (GRCm39)	E123K	probably benign	Het
Fbxo43	A	T	15: 36,162,249 (GRCm39)	F319L	probably benign	Het
Flii	T	C	11: 60,611,318 (GRCm39)	S418G	probably benign	Het
Glyctk	T	A	9: 106,034,820 (GRCm39)	Y82F	probably damaging	Het
Gm11353	G	T	13: 26,676,651 (GRCm39)		noncoding transcript	Het
Gm6505	T	A	3: 28,819,286 (GRCm39)		noncoding transcript	Het
Gpr151	A	G	18: 42,711,661 (GRCm39)	V339A	probably benign	Het
H2-T22	T	C	17: 36,351,195 (GRCm39)	I296V	probably benign	Het
Igfn1	T	C	1: 135,882,352 (GRCm39)	N2831S	probably damaging	Het
Igkv13-85	A	G	6: 68,907,484 (GRCm39)	V39A	probably damaging	Het
Irx5	A	G	8: 93,086,793 (GRCm39)	T242A	probably benign	Het
Mcoln1	A	G	8: 3,558,355 (GRCm39)	D203G	probably benign	Het
Mlph	T	C	1: 90,855,844 (GRCm39)	C57R	probably damaging	Het
Myh13	C	A	11: 67,249,020 (GRCm39)	H1275Q	probably benign	Het
Nbeal1	T	A	1: 60,233,758 (GRCm39)		probably benign	Het
Orc5	T	A	5: 22,742,564 (GRCm39)	M115L	probably benign	Het
Pcdha6	T	A	18: 37,101,119 (GRCm39)	I104N	probably damaging	Het
Plcb4	T	C	2: 135,844,552 (GRCm39)	S157P	probably damaging	Het
Polq	A	G	16: 36,894,389 (GRCm39)	D1787G	probably damaging	Het
Prkar2b	T	G	12: 32,015,122 (GRCm39)	I142L	probably benign	Het
Ptprq	A	G	10: 107,520,965 (GRCm39)	S736P	possibly damaging	Het
Qrich2	A	T	11: 116,336,477 (GRCm39)	V2046D	probably damaging	Het
Rad21	A	T	15: 51,833,361 (GRCm39)	F373I	probably damaging	Het
Rcvrn	A	G	11: 67,590,880 (GRCm39)	I155V	probably benign	Het
Rsrc2	C	T	5: 123,874,691 (GRCm39)		probably benign	Het
Sgsh	A	G	11: 119,241,773 (GRCm39)	L111P	probably damaging	Het
Ssc5d	A	T	7: 4,930,261 (GRCm39)	D114V	probably damaging	Het
St6gal2	C	A	17: 55,789,698 (GRCm39)	P244Q	probably benign	Het
Tarbp1	A	G	8: 127,165,538 (GRCm39)		probably benign	Het
Tmem221	T	C	8: 72,008,399 (GRCm39)		probably null	Het
Trh	A	T	6: 92,220,679 (GRCm39)	V61E	possibly damaging	Het
Trim32	A	T	4: 65,531,703 (GRCm39)	I87F	possibly damaging	Het
Tti2	A	G	8: 31,641,175 (GRCm39)	K100E	probably benign	Het
Usp34	C	T	11: 23,439,033 (GRCm39)	P3532S	possibly damaging	Het
Vps13d	A	G	4: 144,917,114 (GRCm39)	Y17H	probably damaging	Het
Zfp106	T	C	2: 120,365,094 (GRCm39)	K438E	probably benign	Het
Zfp60	T	C	7: 27,449,006 (GRCm39)	I558T	probably damaging	Het
Zzef1	A	C	11: 72,779,866 (GRCm39)	I1880L	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
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
R8480:Krt26	UTSW	11	99,228,426 (GRCm39)	missense	probably damaging	1.00
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'- ACCACTTGTTATGTGGTGTAGCC -3'
(R):5'- ATGCAGAGGCCAGCTTTAAAG -3'

Sequencing Primer
(F):5'- CAGAGAGGGCTTTGGCAC -3'
(R):5'- CAGCTTTAAAGAGAAGGTACATCTGC -3'

Posted On

2015-04-06