Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03392:Krt17'

421106

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krt17

Ensembl Gene

ENSMUSG00000035557

Gene Name

keratin 17

Synonyms

Krt1-17, K17

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03392

Quality Score

Status

Chromosome

Chromosomal Location

100147043-100151855 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100150561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 159 (I159V)

Ref Sequence

ENSEMBL: ENSMUSP00000079699 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017270] [ENSMUST00000080893]

AlphaFold

Q9QWL7

Predicted Effect

probably benign
Transcript: ENSMUST00000017270

SMART Domains

Protein: ENSMUSP00000017270
Gene: ENSMUSG00000053654

Domain	Start	End	E-Value	Type
low complexity region	62	84	N/A	INTRINSIC
Filament	93	404	5.58e-184	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080893
AA Change: I159V

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000079699
Gene: ENSMUSG00000035557
AA Change: I159V

Domain	Start	End	E-Value	Type
Filament	83	394	9.36e-177	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000107406

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the type I keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The encoded protein is a cytokeratin required for the normal growth of hair follicles and may act in psoriasis as an immunopathogenic autoantigen. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele display age- and strain-dependent alopecia associated with frequent absence of vibrissae, increased hair fragility, abnormal hair cycling, altered hair follicle morphology, and apoptosis in matrix cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	A	2: 155,403,931 (GRCm39)	D692E	probably damaging	Het
Adgrb3	T	A	1: 25,543,529 (GRCm39)	R366S	probably damaging	Het
Afg3l2	C	A	18: 67,547,139 (GRCm39)		probably benign	Het
Cd5	T	C	19: 10,703,653 (GRCm39)		probably benign	Het
Cnbd1	A	G	4: 18,862,111 (GRCm39)	S360P	probably damaging	Het
Col13a1	A	T	10: 61,721,490 (GRCm39)	L305I	possibly damaging	Het
Commd7	A	T	2: 153,464,684 (GRCm39)		probably benign	Het
Cpsf6	A	T	10: 117,203,884 (GRCm39)	Y23N	probably damaging	Het
Cry1	A	G	10: 84,992,993 (GRCm39)	V75A	possibly damaging	Het
Cyp2c39	A	G	19: 39,501,767 (GRCm39)	N107D	probably benign	Het
Dcaf11	T	A	14: 55,798,878 (GRCm39)	V45E	probably damaging	Het
Dnm2	A	G	9: 21,385,907 (GRCm39)	E310G	probably damaging	Het
Fat3	T	A	9: 15,915,158 (GRCm39)	I1597L	probably benign	Het
Fcamr	A	G	1: 130,728,685 (GRCm39)		probably benign	Het
Fer	A	G	17: 64,298,637 (GRCm39)	I529V	probably damaging	Het
Fhdc1	T	C	3: 84,351,826 (GRCm39)	K1133R	possibly damaging	Het
Foxd3	A	G	4: 99,545,432 (GRCm39)	K191E	probably damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gbp8	A	G	5: 105,164,410 (GRCm39)		probably null	Het
Glb1	T	G	9: 114,259,389 (GRCm39)	N106K	probably damaging	Het
Hpx	A	G	7: 105,241,609 (GRCm39)	I295T	probably damaging	Het
Ipo5	T	A	14: 121,180,099 (GRCm39)	D844E	probably damaging	Het
Lgi4	G	A	7: 30,762,605 (GRCm39)		probably null	Het
Lrrc49	T	C	9: 60,573,563 (GRCm39)		probably benign	Het
Ltn1	T	C	16: 87,222,499 (GRCm39)	K178R	probably damaging	Het
Myh8	T	A	11: 67,185,244 (GRCm39)	W832R	probably damaging	Het
Nbn	A	G	4: 15,962,362 (GRCm39)	N30S	probably damaging	Het
Or2j3	A	G	17: 38,615,786 (GRCm39)	S189P	probably benign	Het
Or4a72	A	T	2: 89,405,593 (GRCm39)	V159D	probably damaging	Het
Or4f59	T	A	2: 111,873,321 (GRCm39)	N19Y	probably benign	Het
Or51ai2	T	C	7: 103,587,232 (GRCm39)	V215A	probably benign	Het
Pcdh15	A	T	10: 74,460,104 (GRCm39)	I1314F	probably damaging	Het
Phf14	G	A	6: 11,962,658 (GRCm39)	S435N	probably damaging	Het
Prss45	T	A	9: 110,669,618 (GRCm39)	Y231*	probably null	Het
Pus7l	T	C	15: 94,434,449 (GRCm39)	D339G	probably damaging	Het
Sbk2	A	G	7: 4,960,408 (GRCm39)	F254S	probably damaging	Het
Serpina1b	T	G	12: 103,698,329 (GRCm39)	K173N	possibly damaging	Het
Slc13a5	G	A	11: 72,136,004 (GRCm39)	T469I	probably damaging	Het
Spon1	A	G	7: 113,633,522 (GRCm39)	E655G	probably damaging	Het
Sv2b	T	C	7: 74,806,508 (GRCm39)		probably null	Het
Treh	A	G	9: 44,597,228 (GRCm39)	D514G	probably damaging	Het
Umodl1	T	A	17: 31,215,329 (GRCm39)	L1051Q	probably damaging	Het
Usp5	A	G	6: 124,803,350 (GRCm39)	F4S	probably damaging	Het
Vmn1r16	A	G	6: 57,299,879 (GRCm39)	S248P	probably damaging	Het

Other mutations in Krt17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00821:Krt17	APN	11	100,151,457 (GRCm39)	missense	probably damaging	1.00
IGL02291:Krt17	APN	11	100,147,319 (GRCm39)	missense	probably benign	0.42
R0189:Krt17	UTSW	11	100,151,445 (GRCm39)	missense	possibly damaging	0.95
R0238:Krt17	UTSW	11	100,151,704 (GRCm39)	nonsense	probably null
R0238:Krt17	UTSW	11	100,151,704 (GRCm39)	nonsense	probably null
R0239:Krt17	UTSW	11	100,151,704 (GRCm39)	nonsense	probably null
R0239:Krt17	UTSW	11	100,151,704 (GRCm39)	nonsense	probably null
R1448:Krt17	UTSW	11	100,148,365 (GRCm39)	missense	possibly damaging	0.69
R1510:Krt17	UTSW	11	100,148,365 (GRCm39)	missense	possibly damaging	0.69
R4029:Krt17	UTSW	11	100,148,349 (GRCm39)	missense	probably damaging	1.00
R4235:Krt17	UTSW	11	100,148,694 (GRCm39)	missense	possibly damaging	0.90
R4888:Krt17	UTSW	11	100,147,305 (GRCm39)	missense	probably benign	0.06
R5281:Krt17	UTSW	11	100,151,527 (GRCm39)	nonsense	probably null
R7213:Krt17	UTSW	11	100,149,356 (GRCm39)	missense	probably benign	0.09
R7238:Krt17	UTSW	11	100,148,613 (GRCm39)	missense	probably benign	0.19
R7304:Krt17	UTSW	11	100,148,163 (GRCm39)	missense	probably benign
R7438:Krt17	UTSW	11	100,149,291 (GRCm39)	missense	probably damaging	1.00
R7796:Krt17	UTSW	11	100,151,698 (GRCm39)	missense	probably benign	0.23
R9140:Krt17	UTSW	11	100,148,476 (GRCm39)	missense	possibly damaging	0.74
R9436:Krt17	UTSW	11	100,148,325 (GRCm39)	missense	probably damaging	1.00
Z1176:Krt17	UTSW	11	100,151,749 (GRCm39)	missense	probably benign	0.23
Z1177:Krt17	UTSW	11	100,150,537 (GRCm39)	missense	possibly damaging	0.86
Z1177:Krt17	UTSW	11	100,150,022 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02