Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03286:Krt5'

415740

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krt5

Ensembl Gene

ENSMUSG00000061527

Gene Name

keratin 5

Synonyms

Tfip8, Krt2-5, 3300001P10Rik, K5

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03286

Quality Score

Status

Chromosome

Chromosomal Location

101615505-101621333 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101615983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 544 (F544S)

Ref Sequence

ENSEMBL: ENSMUSP00000023709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023709]

AlphaFold

Q922U2

Predicted Effect

unknown
Transcript: ENSMUST00000023709
AA Change: F544S

SMART Domains

Protein: ENSMUSP00000023709
Gene: ENSMUSG00000061527
AA Change: F544S

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	16	158	3.6e-44	PFAM
Filament	161	474	1.58e-174	SMART
low complexity region	483	577	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198689

Coding Region Coverage

Validation Efficiency

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 gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die within the first hour after birth. They have a loose, fragile epidermal layer and abnormal epithelium in parts of the digestive tract. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	G	A	1: 58,088,543 (GRCm39)	G110S	probably benign	Het
Arhgap32	T	C	9: 32,170,816 (GRCm39)	S1548P	probably benign	Het
Cacna1s	A	G	1: 136,005,397 (GRCm39)	D147G	probably benign	Het
Calcoco2	A	G	11: 95,994,098 (GRCm39)	V116A	possibly damaging	Het
Chd5	A	T	4: 152,469,952 (GRCm39)	M1842L	probably benign	Het
Comt	T	C	16: 18,230,490 (GRCm39)	D73G	probably damaging	Het
Ctnna1	A	G	18: 35,308,206 (GRCm39)	I175M	probably benign	Het
Dnah6	A	T	6: 73,060,068 (GRCm39)	Y2839N	probably damaging	Het
Dph7	T	A	2: 24,856,628 (GRCm39)	H193Q	probably damaging	Het
Eif2b5	A	G	16: 20,321,012 (GRCm39)	D258G	probably damaging	Het
Eml5	T	C	12: 98,826,762 (GRCm39)	D630G	probably damaging	Het
Ext2	C	T	2: 93,537,617 (GRCm39)	V590M	probably damaging	Het
Fchsd2	T	C	7: 100,908,982 (GRCm39)		probably null	Het
Gm13272	A	G	4: 88,698,586 (GRCm39)	Q167R	probably benign	Het
Gm21834	A	G	17: 58,048,922 (GRCm39)	V98A	possibly damaging	Het
Grid1	T	A	14: 35,242,642 (GRCm39)		probably benign	Het
H2-DMa	T	A	17: 34,356,083 (GRCm39)		probably null	Het
Ighv5-17	T	G	12: 113,822,797 (GRCm39)	E108A	possibly damaging	Het
Invs	A	G	4: 48,382,261 (GRCm39)	T144A	probably benign	Het
Ipo9	A	G	1: 135,334,816 (GRCm39)		probably benign	Het
Itga4	A	T	2: 79,119,706 (GRCm39)	Y504F	probably damaging	Het
Larp4	A	G	15: 99,883,967 (GRCm39)	Y67C	probably damaging	Het
Msh2	T	C	17: 87,990,095 (GRCm39)	M261T	possibly damaging	Het
Nav1	A	T	1: 135,382,274 (GRCm39)	C1367S	probably benign	Het
Nox4	T	A	7: 87,019,349 (GRCm39)		probably benign	Het
Noxa1	A	G	2: 24,975,732 (GRCm39)		probably null	Het
Or5b98	A	C	19: 12,931,532 (GRCm39)	Y193S	probably benign	Het
Or6p1	A	C	1: 174,258,743 (GRCm39)	I250L	probably benign	Het
Pde4d	T	A	13: 110,091,040 (GRCm39)		probably benign	Het
Pdlim2	C	T	14: 70,411,925 (GRCm39)	G36S	possibly damaging	Het
Plekhm2	A	G	4: 141,361,658 (GRCm39)	S262P	possibly damaging	Het
Pnpla6	C	A	8: 3,581,473 (GRCm39)	T582K	probably damaging	Het
Rap1b	A	T	10: 117,654,480 (GRCm39)	L120*	probably null	Het
Rft1	C	T	14: 30,383,323 (GRCm39)	T121I	probably benign	Het
Scn1a	A	G	2: 66,107,920 (GRCm39)	I1613T	probably damaging	Het
Slc47a2	T	G	11: 61,233,293 (GRCm39)	E79A	possibly damaging	Het
Slc9a4	A	G	1: 40,619,928 (GRCm39)	I85V	probably null	Het
Slfn8	A	T	11: 82,904,294 (GRCm39)	F365L	probably damaging	Het
Smcr8	T	A	11: 60,668,853 (GRCm39)		probably benign	Het
Sntb1	T	C	15: 55,655,442 (GRCm39)	D258G	possibly damaging	Het
Sorbs1	A	G	19: 40,332,858 (GRCm39)	I520T	probably damaging	Het
Sptbn2	T	C	19: 4,797,860 (GRCm39)	S1896P	probably damaging	Het
Sptlc3	G	A	2: 139,431,579 (GRCm39)	G367D	probably damaging	Het
Stab1	C	T	14: 30,881,283 (GRCm39)		probably benign	Het
Tars2	T	C	3: 95,662,067 (GRCm39)		probably benign	Het
Tchhl1	C	T	3: 93,378,430 (GRCm39)	A378V	probably benign	Het
Tet3	A	T	6: 83,352,760 (GRCm39)	F1012Y	probably damaging	Het
Tuba8	A	G	6: 121,199,913 (GRCm39)	D199G	possibly damaging	Het
Vmn2r110	T	A	17: 20,804,468 (GRCm39)	T151S	possibly damaging	Het
Xirp2	T	C	2: 67,346,654 (GRCm39)	I2965T	probably damaging	Het
Zfp688	T	A	7: 127,018,703 (GRCm39)	M141L	probably benign	Het

Other mutations in Krt5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00475:Krt5	APN	15	101,621,076 (GRCm39)	missense	unknown
IGL01949:Krt5	APN	15	101,619,048 (GRCm39)	missense	probably benign	0.14
IGL03013:Krt5	APN	15	101,620,103 (GRCm39)	missense	probably benign	0.00
R1598:Krt5	UTSW	15	101,620,876 (GRCm39)	missense	probably benign	0.38
R1697:Krt5	UTSW	15	101,619,020 (GRCm39)	missense	probably benign	0.06
R1967:Krt5	UTSW	15	101,620,094 (GRCm39)	missense	probably benign	0.21
R2143:Krt5	UTSW	15	101,620,794 (GRCm39)	missense	probably damaging	1.00
R2438:Krt5	UTSW	15	101,620,093 (GRCm39)	missense	probably benign	0.10
R4633:Krt5	UTSW	15	101,620,042 (GRCm39)	missense	probably damaging	0.98
R4771:Krt5	UTSW	15	101,617,494 (GRCm39)	missense	probably damaging	0.99
R4918:Krt5	UTSW	15	101,618,742 (GRCm39)	missense	probably damaging	1.00
R5622:Krt5	UTSW	15	101,617,470 (GRCm39)	missense	probably damaging	1.00
R6797:Krt5	UTSW	15	101,621,076 (GRCm39)	missense	unknown
R6873:Krt5	UTSW	15	101,621,312 (GRCm39)	start gained	probably benign
R7808:Krt5	UTSW	15	101,617,453 (GRCm39)	missense	probably benign	0.01
R8010:Krt5	UTSW	15	101,620,791 (GRCm39)	missense	probably damaging	1.00
R8252:Krt5	UTSW	15	101,620,794 (GRCm39)	missense	probably damaging	1.00
R8696:Krt5	UTSW	15	101,618,742 (GRCm39)	missense	probably damaging	1.00
R8889:Krt5	UTSW	15	101,619,185 (GRCm39)	missense	probably benign	0.01
R8892:Krt5	UTSW	15	101,619,185 (GRCm39)	missense	probably benign	0.01
R9468:Krt5	UTSW	15	101,615,980 (GRCm39)	missense	unknown
R9578:Krt5	UTSW	15	101,620,153 (GRCm39)	missense	probably damaging	0.98
R9696:Krt5	UTSW	15	101,616,141 (GRCm39)	missense	unknown
X0019:Krt5	UTSW	15	101,620,803 (GRCm39)	missense	probably damaging	0.98

Posted On

2016-08-02