Mutagenetix > Incidental Mutation

Incidental Mutation 'R5698:Krt14'

450807

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5698 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100093988-100098336 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100096451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 208 (T208A)

Ref Sequence

ENSEMBL: ENSMUSP00000007272 (fasta)

Gene Model

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

AlphaFold

Q61781

Predicted Effect

probably benign
Transcript: ENSMUST00000007272
AA Change: T208A

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000007272
Gene: ENSMUSG00000045545
AA Change: T208A

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	A	G	11: 3,926,366 (GRCm39)	K334E	possibly damaging	Het
Ache	G	A	5: 137,288,821 (GRCm39)	V176M	probably damaging	Het
Acss3	T	C	10: 106,784,605 (GRCm39)	D539G	probably damaging	Het
Adam6b	T	A	12: 113,455,083 (GRCm39)	D633E	probably benign	Het
Aldh16a1	G	A	7: 44,803,831 (GRCm39)		probably benign	Het
Amigo2	G	A	15: 97,143,607 (GRCm39)	Q272*	probably null	Het
Aoc1l1	A	G	6: 48,953,256 (GRCm39)	T394A	possibly damaging	Het
Appbp2	A	T	11: 85,100,925 (GRCm39)	H171Q	probably damaging	Het
Arhgef18	A	G	8: 3,489,499 (GRCm39)	D277G	probably damaging	Het
Armc8	A	G	9: 99,417,873 (GRCm39)	V95A	probably benign	Het
Atp6v0a4	C	T	6: 38,027,442 (GRCm39)		probably null	Het
Atp8a1	A	T	5: 67,924,496 (GRCm39)	N289K	probably benign	Het
Cand2	C	T	6: 115,768,704 (GRCm39)	L505F	probably damaging	Het
Ccnt2	A	G	1: 127,730,965 (GRCm39)	K614R	probably benign	Het
Col25a1	A	G	3: 130,272,632 (GRCm39)		probably null	Het
Copa	T	A	1: 171,946,511 (GRCm39)	L976*	probably null	Het
Ddx39b	T	C	17: 35,470,287 (GRCm39)	V267A	probably benign	Het
Dpp4	T	A	2: 62,164,655 (GRCm39)	Q709L	probably damaging	Het
Eno4	A	G	19: 58,956,904 (GRCm39)		probably null	Het
Exoc3	A	G	13: 74,322,134 (GRCm39)	L647P	probably benign	Het
Eya4	T	C	10: 23,015,975 (GRCm39)	S308G	possibly damaging	Het
Fbxo41	T	C	6: 85,454,638 (GRCm39)	T693A	possibly damaging	Het
Fcgbp	A	G	7: 27,791,447 (GRCm39)	T903A	possibly damaging	Het
Fkbp10	G	T	11: 100,314,352 (GRCm39)	W384L	probably damaging	Het
Frem2	A	G	3: 53,559,926 (GRCm39)	I1527T	possibly damaging	Het
H13	T	A	2: 152,530,875 (GRCm39)	I220N	probably damaging	Het
Has2	T	C	15: 56,531,312 (GRCm39)	R468G	probably damaging	Het
Ighmbp2	A	G	19: 3,324,538 (GRCm39)	S243P	probably damaging	Het
Irs1	T	C	1: 82,266,455 (GRCm39)	H587R	probably benign	Het
Kcnk1	C	T	8: 126,752,144 (GRCm39)	T250M	probably damaging	Het
Kif9	T	C	9: 110,339,532 (GRCm39)	V458A	probably benign	Het
Mybpc3	C	A	2: 90,955,194 (GRCm39)	H349Q	possibly damaging	Het
Neurl3	T	A	1: 36,305,587 (GRCm39)	T207S	possibly damaging	Het
Nol9	T	C	4: 152,135,031 (GRCm39)	V388A	probably damaging	Het
Notch3	T	C	17: 32,376,961 (GRCm39)	N315D	probably damaging	Het
Oas1h	G	T	5: 121,009,045 (GRCm39)	A252S	probably damaging	Het
Or13c7b	C	A	4: 43,821,183 (GRCm39)	M59I	probably damaging	Het
Pcbp1	G	A	6: 86,502,134 (GRCm39)	T255M	possibly damaging	Het
Plec	A	G	15: 76,083,808 (GRCm39)	V18A	probably benign	Het
Ppp1r17	A	T	6: 56,003,529 (GRCm39)	E114V	probably damaging	Het
Scamp5	A	T	9: 57,352,716 (GRCm39)	M151K	possibly damaging	Het
Sestd1	T	C	2: 77,048,512 (GRCm39)	Y135C	possibly damaging	Het
Slc22a21	T	G	11: 53,842,175 (GRCm39)	K534N	probably benign	Het
Slc25a12	T	C	2: 71,112,917 (GRCm39)	E448G	probably damaging	Het
Slco3a1	A	G	7: 73,996,566 (GRCm39)	L280P	probably damaging	Het
Sppl2b	C	A	10: 80,701,879 (GRCm39)		probably null	Het
Srd5a2	T	C	17: 74,334,014 (GRCm39)	E135G	possibly damaging	Het
Tfg	A	T	16: 56,521,467 (GRCm39)	M183K	probably damaging	Het
Ticrr	G	A	7: 79,328,881 (GRCm39)	M673I	probably benign	Het
Tm4sf20	T	G	1: 82,745,958 (GRCm39)	M61L	probably benign	Het
Ttll8	A	T	15: 88,823,209 (GRCm39)	S85T	possibly damaging	Het
Uggt2	G	A	14: 119,280,138 (GRCm39)	S780F	probably damaging	Het
Uroc1	T	C	6: 90,324,302 (GRCm39)	L442P	probably damaging	Het
Zfp1005	C	T	2: 150,111,394 (GRCm39)	H695Y	possibly damaging	Het
Znrf3	A	G	11: 5,239,006 (GRCm39)		probably benign	Het
Zswim2	C	A	2: 83,755,527 (GRCm39)	D125Y	possibly 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
R1302:Krt14	UTSW	11	100,094,173 (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
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'- GCTGTGGATCACAATCTCCTAG -3'
(R):5'- GCTGTGGGAAACAAAGGCTC -3'

Sequencing Primer
(F):5'- GGATCACAATCTCCTAGGTAACTGG -3'
(R):5'- GAACAGGATTCAAGCAAGAGC -3'

Posted On

2017-01-03