Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02934:Krt13'

364228

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krt13

Ensembl Gene

ENSMUSG00000044041

Gene Name

keratin 13

Synonyms

K13, Krt-1.13, Krt1-13

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.203) question?

Stock #

IGL02934

Quality Score

Status

Chromosome

Chromosomal Location

100117327-100121566 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 100119084 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 320 (L320R)

Ref Sequence

ENSEMBL: ENSMUSP00000007275 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007275]

Predicted Effect

probably damaging
Transcript: ENSMUST00000007275
AA Change: L320R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000007275
Gene: ENSMUSG00000044041
AA Change: L320R

Domain	Start	End	E-Value	Type
internal_repeat_1	5	21	1.02e-5	PROSPERO
internal_repeat_1	16	32	1.02e-5	PROSPERO
low complexity region	39	94	N/A	INTRINSIC
Filament	95	407	7.21e-169	SMART
low complexity region	409	430	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128934

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134282

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the 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. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This type I cytokeratin is paired with keratin 4 and expressed in the suprabasal layers of non-cornified stratified epithelia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	T	3: 122,162,359	R716*	probably null	Het
Abca8a	A	T	11: 110,040,588	N1246K	probably damaging	Het
Acadl	A	G	1: 66,836,975	Y396H	probably benign	Het
Apol7c	A	T	15: 77,526,118	S209R	possibly damaging	Het
Atp1a1	A	T	3: 101,576,992	C990*	probably null	Het
Cachd1	C	T	4: 100,968,098	S583L	probably damaging	Het
Cbfa2t3	T	C	8: 122,647,758	T48A	probably benign	Het
Ccdc138	G	T	10: 58,573,580		probably benign	Het
Cenpe	A	G	3: 135,264,351	E2231G	probably damaging	Het
Cog3	T	C	14: 75,741,689	I206V	probably damaging	Het
Cr2	A	G	1: 195,154,325		probably benign	Het
Ctdspl2	T	C	2: 121,979,009	V147A	probably damaging	Het
Cyp4f13	A	G	17: 32,929,871	V300A	probably damaging	Het
Dkk3	A	T	7: 112,150,747	M72K	probably damaging	Het
Dock3	A	T	9: 107,023,745	F340L	probably benign	Het
Fut1	A	G	7: 45,618,703	H27R	possibly damaging	Het
Igkv4-80	A	G	6: 69,016,856	V17A	probably benign	Het
Igkv9-123	G	A	6: 67,954,396	P62L	possibly damaging	Het
Kmt2e	T	C	5: 23,497,884	S1021P	probably damaging	Het
Ldhal6b	T	C	17: 5,417,544	T372A	probably benign	Het
Manba	T	C	3: 135,544,749	V379A	probably benign	Het
Map1b	C	T	13: 99,435,131	V361I	probably benign	Het
Map4k1	A	G	7: 28,994,106	S399G	probably benign	Het
Mff	G	A	1: 82,747,094	R229H	probably damaging	Het
Naga	T	C	15: 82,330,200	N370S	possibly damaging	Het
Ncor2	A	T	5: 125,025,557	M2045K	probably benign	Het
Nipal1	T	C	5: 72,647,907	L7P	probably damaging	Het
Olfr9	T	A	10: 128,990,089	M59K	probably damaging	Het
Pcmt1	A	T	10: 7,640,727	M187K	probably benign	Het
Perp	A	T	10: 18,855,772	T160S	probably damaging	Het
Rapgef6	G	A	11: 54,625,864	D169N	probably damaging	Het
Sel1l	G	A	12: 91,809,936	Q711*	probably null	Het
Sept5	T	C	16: 18,629,831	Y7C	probably damaging	Het
Spdya	A	T	17: 71,556,400	N48I	probably benign	Het
Stard6	T	A	18: 70,496,104		probably benign	Het
Sytl2	T	C	7: 90,375,992	V396A	probably benign	Het
Tcaf3	T	G	6: 42,593,898	M307L	probably benign	Het
Tdrd6	T	C	17: 43,627,887	N757D	probably benign	Het
Tgm1	T	A	14: 55,709,989	D305V	probably damaging	Het
Themis2	T	A	4: 132,789,551	M213L	probably damaging	Het
Tmem184c	A	G	8: 77,597,820	V347A	probably damaging	Het
Tmem214	A	G	5: 30,871,544	E159G	probably benign	Het
Trim58	C	T	11: 58,640,466		probably benign	Het
Tshz1	A	T	18: 84,013,090	S1064R	probably damaging	Het
Ubr2	C	T	17: 46,957,340	E983K	possibly damaging	Het
Vmn1r23	A	T	6: 57,925,929	I288N	probably benign	Het
Vmn2r97	T	C	17: 18,929,685	V445A	probably benign	Het
Whrn	G	A	4: 63,416,105	T813M	probably damaging	Het
Xirp2	C	T	2: 67,515,676	H2754Y	probably benign	Het

Other mutations in Krt13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01780:Krt13	APN	11	100119713	missense	probably damaging	1.00
IGL02532:Krt13	APN	11	100119369	missense	probably damaging	1.00
PIT4651001:Krt13	UTSW	11	100120036	missense	probably damaging	0.98
R0092:Krt13	UTSW	11	100121432	nonsense	probably null
R0722:Krt13	UTSW	11	100119153	missense	probably damaging	1.00
R1228:Krt13	UTSW	11	100121477	missense	probably benign	0.18
R1400:Krt13	UTSW	11	100121284	missense	probably damaging	1.00
R1751:Krt13	UTSW	11	100121100	missense	possibly damaging	0.84
R1767:Krt13	UTSW	11	100121100	missense	possibly damaging	0.84
R2420:Krt13	UTSW	11	100120051	missense	probably benign	0.43
R2421:Krt13	UTSW	11	100120051	missense	probably benign	0.43
R2869:Krt13	UTSW	11	100117649	missense	unknown
R2869:Krt13	UTSW	11	100117649	missense	unknown
R4421:Krt13	UTSW	11	100118935	missense	possibly damaging	0.94
R4451:Krt13	UTSW	11	100118001	missense	unknown
R4520:Krt13	UTSW	11	100119348	missense	probably damaging	0.99
R4632:Krt13	UTSW	11	100121224	missense	possibly damaging	0.96
R4656:Krt13	UTSW	11	100119363	missense	probably damaging	1.00
R4872:Krt13	UTSW	11	100121506	start gained	probably benign
R5709:Krt13	UTSW	11	100117643	missense	unknown
R6014:Krt13	UTSW	11	100117611	missense	unknown
R6323:Krt13	UTSW	11	100121150	missense	probably damaging	1.00
R6391:Krt13	UTSW	11	100119376	missense	probably damaging	0.96
R7535:Krt13	UTSW	11	100117998	missense	unknown
R7562:Krt13	UTSW	11	100119336	missense	probably damaging	1.00
R7867:Krt13	UTSW	11	100121182	missense	probably damaging	1.00
R7992:Krt13	UTSW	11	100117652	missense	unknown
R8379:Krt13	UTSW	11	100118880	missense	probably damaging	0.99
R8429:Krt13	UTSW	11	100121125	missense	probably damaging	1.00
R8560:Krt13	UTSW	11	100118850	missense	possibly damaging	0.85
R8728:Krt13	UTSW	11	100121492	missense	probably null	0.73
R8879:Krt13	UTSW	11	100119385	missense	probably benign	0.00
X0013:Krt13	UTSW	11	100119348	missense	probably damaging	0.99

Posted On

2015-12-18