Mutagenetix > Incidental Mutation

Incidental Mutation 'R8973:Krt13'

683260

Institutional Source

Beutler Lab

Gene Symbol

Krt13

Ensembl Gene

ENSMUSG00000044041

Gene Name

keratin 13

Synonyms

K13, Krt-1.13, Krt1-13

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R8973 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100117327-100121566 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100119438 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 239 (M239K)

Ref Sequence

ENSEMBL: ENSMUSP00000007275 (fasta)

Gene Model

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

AlphaFold

P08730

Predicted Effect

possibly damaging
Transcript: ENSMUST00000007275
AA Change: M239K

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000007275
Gene: ENSMUSG00000044041
AA Change: M239K

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

Meta Mutation Damage Score

0.2969

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (77/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	T	G	18: 57,592,067	L123V	possibly damaging	Het
1810022K09Rik	C	T	3: 14,607,245	V97I	probably benign	Het
2410089E03Rik	T	C	15: 8,203,793	W1201R	probably damaging	Het
4930404N11Rik	T	C	10: 81,364,015	D129G	unknown	Het
Adamts16	A	T	13: 70,738,840	I975N	probably benign	Het
Adcy8	A	G	15: 64,699,135	*1250Q	probably null	Het
Anapc1	A	T	2: 128,664,032	I628N	probably damaging	Het
Ankrd39	C	T	1: 36,539,358		probably benign	Het
Ankub1	A	T	3: 57,665,511	S263R	possibly damaging	Het
Aoah	A	G	13: 20,840,155	I94V	probably benign	Het
Aox2	A	G	1: 58,289,954	D186G	probably benign	Het
Arap2	A	T	5: 62,698,325	C589*	probably null	Het
Armt1	T	C	10: 4,439,550	L69P	probably damaging	Het
Atxn7l3	T	A	11: 102,292,772	Y185F	probably benign	Het
BC067074	A	G	13: 113,319,759	T780A		Het
Cacna2d4	A	G	6: 119,241,181	D159G	probably damaging	Het
Camta2	C	A	11: 70,670,358	R1184L	probably benign	Het
Ccr7	G	A	11: 99,145,823	T91I	probably damaging	Het
Cdh9	A	G	15: 16,831,045	T323A	possibly damaging	Het
Cep250	C	T	2: 155,970,122	A446V	unknown	Het
Clec2e	C	A	6: 129,093,411	G216*	probably null	Het
Col25a1	T	C	3: 130,475,626	S176P	unknown	Het
Col4a3	A	C	1: 82,715,331	I1446L	probably benign	Het
Cse1l	A	G	2: 166,943,080	E823G	probably damaging	Het
Dchs2	A	G	3: 83,354,456	E2677G	possibly damaging	Het
Dis3l	T	C	9: 64,339,542	E77G	probably damaging	Het
Dnah6	T	C	6: 73,144,751	D1416G	probably benign	Het
Dpyd	T	C	3: 119,314,933		probably null	Het
Dst	A	G	1: 34,228,855	D3112G	probably damaging	Het
Dusp13	A	C	14: 21,734,906	N128K	probably benign	Het
Emilin2	T	G	17: 71,275,084	K216Q	probably benign	Het
Enam	T	C	5: 88,494,088	W254R	possibly damaging	Het
Esrrg	A	C	1: 188,198,750	N346T	possibly damaging	Het
Fbn2	C	T	18: 58,153,856	G244R	probably damaging	Het
Fbxw25	A	G	9: 109,650,064	L373P		Het
Gm21060	C	A	19: 61,296,928	V48L	possibly damaging	Het
Gm30302	A	T	13: 49,788,239	D80E	probably benign	Het
Gtpbp3	T	C	8: 71,491,162	V254A	possibly damaging	Het
H2-DMb2	A	G	17: 34,148,725	D171G	probably damaging	Het
Hrg	A	T	16: 22,959,218	T242S	probably benign	Het
Inf2	G	T	12: 112,607,515	C751F	unknown	Het
Lrrc72	A	G	12: 36,253,294	S7P	probably benign	Het
Matn2	A	G	15: 34,433,050	I867V	probably benign	Het
Mdh2	C	T	5: 135,790,165	A325V	possibly damaging	Het
Mki67	C	A	7: 135,695,635	A2557S	possibly damaging	Het
Mrpl16	A	T	19: 11,772,943	R64*	probably null	Het
Nav1	T	C	1: 135,584,725	D199G	probably benign	Het
Nbn	T	C	4: 15,986,585	V662A	probably damaging	Het
Nek10	G	A	14: 14,931,321		probably null	Het
Olfr141	C	A	2: 86,806,856	V48F	probably benign	Het
Olfr298	A	G	7: 86,489,279	S91P	probably damaging	Het
Olfr834	C	A	9: 18,988,678	S230*	probably null	Het
Olfr884	T	A	9: 38,047,543	V107D	possibly damaging	Het
Pcsk7	T	G	9: 45,927,642	S617R	probably benign	Het
Pde10a	C	A	17: 8,924,239	Q6K	probably benign	Het
Pigq	A	C	17: 25,932,167	M396R	probably damaging	Het
Pkhd1l1	T	A	15: 44,586,437	D3865E	probably damaging	Het
Prag1	C	T	8: 36,099,590		probably benign	Het
Rint1	A	G	5: 23,811,730	T498A	probably benign	Het
Rnf213	T	A	11: 119,461,930	F3921I		Het
Rpp14	A	G	14: 8,088,768	S95G	probably benign	Het
Ryk	T	G	9: 102,861,921	Y78D	possibly damaging	Het
Sez6	A	T	11: 77,974,571	Q678L	probably damaging	Het
Slc22a21	T	C	11: 53,969,576	K141E	probably damaging	Het
Slc30a5	A	T	13: 100,806,694	I609K	probably damaging	Het
Slc44a4	T	C	17: 34,921,562	F244L	probably damaging	Het
Susd5	T	C	9: 114,082,504	Y161H	possibly damaging	Het
Syne3	A	G	12: 104,959,395		probably null	Het
Tbcd	G	C	11: 121,496,853		probably benign	Het
Tmc1	A	T	19: 20,900,851	N93K	probably benign	Het
Tmem100	T	A	11: 90,035,476	M43K	probably benign	Het
Tmem131l	A	T	3: 83,928,732	V690D	probably damaging	Het
Trim8	A	G	19: 46,515,464	Q485R	possibly damaging	Het
Vmn2r63	A	T	7: 42,928,495	H206Q	probably benign	Het
Vmn2r77	T	A	7: 86,802,942	N443K	possibly damaging	Het
Zan	T	A	5: 137,389,316	I4878F	unknown	Het
Zfand4	A	G	6: 116,314,080	D344G	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
IGL02934:Krt13	APN	11	100119084	missense	probably damaging	0.99
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
R9610:Krt13	UTSW	11	100121492	missense	probably benign	0.18
R9611:Krt13	UTSW	11	100121492	missense	probably benign	0.18
R9746:Krt13	UTSW	11	100121161	missense	possibly damaging	0.90
X0013:Krt13	UTSW	11	100119348	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGAGCTAGAAACACCAATACCTTG -3'
(R):5'- AGCCTGAATGAAGAACTGGC -3'

Sequencing Primer
(F):5'- CCAATACCTTGGTCTGGAACC -3'
(R):5'- CCTGAATGAAGAACTGGCTTACCTG -3'

Posted On

2021-10-11