Mutagenetix > Incidental Mutation

Incidental Mutation 'R1302:Krt14'

158445

Institutional Source

Beutler Lab

Gene Symbol

Krt14

Ensembl Gene

ENSMUSG00000045545

Gene Name

keratin 14

Synonyms

Krt-1.14, K14, Krt1-14, epidermolysis bullosa simplex, Dowling-Meara, Koebner, Cytokeratin 14

MMRRC Submission

039368-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1302 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100093988-100098336 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100094173 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 474 (S474P)

Ref Sequence

ENSEMBL: ENSMUSP00000007272 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007272]

AlphaFold

Q61781

Predicted Effect

probably damaging
Transcript: ENSMUST00000007272
AA Change: S474P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000007272
Gene: ENSMUSG00000045545
AA Change: S474P

Domain	Start	End	E-Value	Type
low complexity region	10	29	N/A	INTRINSIC
Filament	120	431	5.67e-176	SMART
low complexity region	433	450	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137265

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.3%
20x: 86.2%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for targeted null mutations develop extensive skin blistering after birth and die by 2 days of age. If keratin 16 is also expressed in skin, development is normal but later alopecia, chronic skin ulcers and stratified epithelial defects occur. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	A	T	8: 125,566,607 (GRCm39)	I271N	probably damaging	Het
5031439G07Rik	A	G	15: 84,837,477 (GRCm39)	Y279H	probably damaging	Het
Abcg2	T	A	6: 58,662,802 (GRCm39)	M548K	probably damaging	Het
Acat1	T	C	9: 53,500,525 (GRCm39)	D257G	possibly damaging	Het
Adamts4	G	A	1: 171,080,752 (GRCm39)	G360R	probably damaging	Het
Akr1c12	T	C	13: 4,322,328 (GRCm39)	D238G	probably damaging	Het
Ankrd1	C	T	19: 36,092,403 (GRCm39)	G275S	probably damaging	Het
Ascc3	T	A	10: 50,480,890 (GRCm39)	M1K	probably null	Het
Atf7ip2	T	C	16: 10,058,472 (GRCm39)	S304P	possibly damaging	Het
Casp4	T	A	9: 5,328,518 (GRCm39)	C333*	probably null	Het
Ccdc68	G	A	18: 70,072,033 (GRCm39)	V37M	probably damaging	Het
Cda	T	A	4: 138,078,502 (GRCm39)	I87F	probably damaging	Het
Chst1	A	T	2: 92,443,864 (GRCm39)	D112V	probably damaging	Het
Chtf18	T	C	17: 25,938,132 (GRCm39)	D967G	probably damaging	Het
Col5a1	A	G	2: 27,895,248 (GRCm39)	R1106G	probably damaging	Het
Coro1b	T	G	19: 4,199,376 (GRCm39)	F12V	probably damaging	Het
Ctif	G	T	18: 75,654,749 (GRCm39)	P259Q	probably benign	Het
Duox1	A	T	2: 122,177,760 (GRCm39)	I1515F	probably benign	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Flt1	A	G	5: 147,501,050 (GRCm39)	Y1328H	possibly damaging	Het
Frem2	T	C	3: 53,562,959 (GRCm39)	D516G	probably benign	Het
Gin1	A	T	1: 97,703,314 (GRCm39)	K46*	probably null	Het
Gle1	C	G	2: 29,842,564 (GRCm39)		probably null	Het
Gm11146	T	G	16: 77,398,970 (GRCm39)	I5L	unknown	Het
Gpr153	C	T	4: 152,364,400 (GRCm39)	T152M	probably damaging	Het
H1f8	A	T	6: 115,924,610 (GRCm39)	R39*	probably null	Het
Hdlbp	A	T	1: 93,351,107 (GRCm39)		probably null	Het
Ifi207	A	T	1: 173,562,861 (GRCm39)	L95Q	possibly damaging	Het
Ikzf3	G	T	11: 98,407,746 (GRCm39)	P32T	probably benign	Het
Ints10	T	A	8: 69,279,964 (GRCm39)	V697E	probably damaging	Het
L3mbtl3	T	A	10: 26,203,667 (GRCm39)	I388F	unknown	Het
Ldha	A	C	7: 46,497,063 (GRCm39)	Q7P	probably damaging	Het
Lrwd1	A	G	5: 136,161,267 (GRCm39)	S232P	probably benign	Het
Med1	G	T	11: 98,048,275 (GRCm39)	D840E	possibly damaging	Het
Med23	T	A	10: 24,764,320 (GRCm39)		probably null	Het
Naip5	G	A	13: 100,358,099 (GRCm39)	P1046S	possibly damaging	Het
Ndufa4l2	A	T	10: 127,351,301 (GRCm39)	M31L	probably benign	Het
Nlrp4f	A	G	13: 65,342,371 (GRCm39)	S425P	possibly damaging	Het
Nova1	A	T	12: 46,767,581 (GRCm39)	H113Q	unknown	Het
Npc1	T	C	18: 12,328,142 (GRCm39)	K1056E	probably benign	Het
Nrbp1	A	G	5: 31,407,233 (GRCm39)	H354R	probably benign	Het
Ogfod3	A	G	11: 121,074,300 (GRCm39)	F250L	probably damaging	Het
Pclo	A	G	5: 14,731,647 (GRCm39)	D3383G	unknown	Het
Pde1b	T	A	15: 103,436,026 (GRCm39)	D457E	probably benign	Het
Pkd1	C	G	17: 24,787,210 (GRCm39)	S581R	probably benign	Het
Pno1	T	A	11: 17,154,545 (GRCm39)	Q212L	probably benign	Het
Polr3b	C	T	10: 84,468,350 (GRCm39)	P112L	probably damaging	Het
Pomk	T	A	8: 26,473,102 (GRCm39)	I284F	probably damaging	Het
Rapgef4	A	T	2: 71,875,504 (GRCm39)	D119V	probably benign	Het
Rprm	A	T	2: 53,975,165 (GRCm39)	L51Q	probably benign	Het
Spata31e5	A	T	1: 28,815,421 (GRCm39)	D870E	probably benign	Het
Taok3	A	C	5: 117,337,108 (GRCm39)	S58R	possibly damaging	Het
Tmprss9	T	A	10: 80,730,963 (GRCm39)	S830T	probably benign	Het
Tnfrsf1a	G	A	6: 125,333,879 (GRCm39)	C44Y	probably damaging	Het
Ubr5	A	T	15: 38,041,723 (GRCm39)	D235E	possibly damaging	Het
Vapb	C	A	2: 173,613,330 (GRCm39)	F76L	possibly damaging	Het
Vmn2r72	T	C	7: 85,387,465 (GRCm39)	I700V	probably damaging	Het
Wwc1	G	A	11: 35,734,984 (GRCm39)	R964W	probably damaging	Het
Zfp644	A	T	5: 106,782,765 (GRCm39)	V1203D	probably damaging	Het

Other mutations in Krt14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01759:Krt14	APN	11	100,095,242 (GRCm39)	splice site	probably benign
R0449:Krt14	UTSW	11	100,098,221 (GRCm39)	missense	unknown
R0848:Krt14	UTSW	11	100,095,090 (GRCm39)	missense	probably damaging	1.00
R2024:Krt14	UTSW	11	100,098,044 (GRCm39)	missense	unknown
R2088:Krt14	UTSW	11	100,094,949 (GRCm39)	missense	possibly damaging	0.81
R2161:Krt14	UTSW	11	100,097,939 (GRCm39)	missense	unknown
R3878:Krt14	UTSW	11	100,097,915 (GRCm39)	missense	possibly damaging	0.56
R5015:Krt14	UTSW	11	100,098,032 (GRCm39)	nonsense	probably null
R5314:Krt14	UTSW	11	100,095,526 (GRCm39)	missense	probably damaging	1.00
R5474:Krt14	UTSW	11	100,095,571 (GRCm39)	missense	probably damaging	1.00
R5698:Krt14	UTSW	11	100,096,451 (GRCm39)	missense	probably benign	0.44
R5707:Krt14	UTSW	11	100,095,584 (GRCm39)	missense	possibly damaging	0.77
R6072:Krt14	UTSW	11	100,097,992 (GRCm39)	missense	unknown
R6523:Krt14	UTSW	11	100,095,923 (GRCm39)	missense	possibly damaging	0.81
R6622:Krt14	UTSW	11	100,094,786 (GRCm39)	missense	probably benign	0.00
R7082:Krt14	UTSW	11	100,094,167 (GRCm39)	missense	possibly damaging	0.95
R7239:Krt14	UTSW	11	100,095,081 (GRCm39)	missense	probably benign	0.03
R7350:Krt14	UTSW	11	100,095,926 (GRCm39)	nonsense	probably null
R8055:Krt14	UTSW	11	100,095,584 (GRCm39)	missense	possibly damaging	0.89
R8233:Krt14	UTSW	11	100,094,178 (GRCm39)	missense	probably damaging	0.99
R9043:Krt14	UTSW	11	100,095,464 (GRCm39)	missense	possibly damaging	0.79
R9116:Krt14	UTSW	11	100,095,904 (GRCm39)	missense	probably benign	0.31
R9725:Krt14	UTSW	11	100,097,902 (GRCm39)	missense	probably damaging	0.99
R9784:Krt14	UTSW	11	100,097,966 (GRCm39)	missense	unknown
X0020:Krt14	UTSW	11	100,095,932 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGCTTTATTGCTTGCCAGGAAGGAC -3'
(R):5'- TCTAACGCTCCTCAGAGCTAGGAC -3'

Sequencing Primer
(F):5'- CTTGCCAGGAAGGACAAGGG -3'
(R):5'- GAGCTAGGACTGCTGACCTTAATC -3'

Posted On

2014-02-18