Mutagenetix > Incidental Mutation

Incidental Mutation 'R5707:Krt14'

452039

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

043332-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5707 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100093988-100098336 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100095584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 274 (V274I)

Ref Sequence

ENSEMBL: ENSMUSP00000007272 (fasta)

Gene Model

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

AlphaFold

Q61781

Predicted Effect

possibly damaging
Transcript: ENSMUST00000007272
AA Change: V274I

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000007272
Gene: ENSMUSG00000045545
AA Change: V274I

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

Meta Mutation Damage Score

0.4042

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

97% (56/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,460,620 (GRCm39)	L4210P	probably damaging	Het
Adcy6	T	C	15: 98,496,622 (GRCm39)	T518A	probably damaging	Het
Adgb	C	T	10: 10,267,501 (GRCm39)	V940I	probably damaging	Het
Aqp11	A	G	7: 97,386,635 (GRCm39)	V187A	possibly damaging	Het
Arhgef15	A	G	11: 68,845,541 (GRCm39)	S104P	probably damaging	Het
Birc6	T	A	17: 75,003,399 (GRCm39)	N4762K	probably damaging	Het
Cacna1e	T	C	1: 154,509,463 (GRCm39)	D264G	probably damaging	Het
Cela3b	G	T	4: 137,152,167 (GRCm39)	Q97K	probably damaging	Het
Cenpc1	T	A	5: 86,183,293 (GRCm39)	R499W	possibly damaging	Het
Chct1	A	G	11: 85,064,138 (GRCm39)	N93S	probably benign	Het
Cnr1	C	A	4: 33,944,330 (GRCm39)	C239*	probably null	Het
Col6a2	T	C	10: 76,446,865 (GRCm39)	K348E	possibly damaging	Het
Ctnnb1	C	A	9: 120,784,234 (GRCm39)	L368I	probably benign	Het
Diras1	T	C	10: 80,857,915 (GRCm39)	E112G	probably benign	Het
Dop1a	T	A	9: 86,385,050 (GRCm39)	M332K	possibly damaging	Het
Dpy19l1	T	C	9: 24,325,563 (GRCm39)	*747W	probably null	Het
Dydc2	T	G	14: 40,783,911 (GRCm39)	T71P	probably damaging	Het
Elapor2	A	G	5: 9,491,698 (GRCm39)	Y686C	probably damaging	Het
Ggt1	T	A	10: 75,421,072 (GRCm39)	I429N	probably benign	Het
Gm5114	G	C	7: 39,060,700 (GRCm39)	L50V	probably benign	Het
Gm5121	T	G	9: 57,241,766 (GRCm39)		noncoding transcript	Het
Kidins220	A	G	12: 25,063,390 (GRCm39)	D933G	probably damaging	Het
Kirrel3	A	G	9: 34,924,572 (GRCm39)	K286R	probably damaging	Het
Klf5	T	C	14: 99,538,944 (GRCm39)	I39T	probably benign	Het
Meiob	A	G	17: 25,054,025 (GRCm39)	D364G	probably benign	Het
Mroh7	T	A	4: 106,539,082 (GRCm39)	E1190D	possibly damaging	Het
Mtmr7	T	C	8: 41,011,203 (GRCm39)	E285G	possibly damaging	Het
Nhsl1	C	T	10: 18,402,251 (GRCm39)	T1159M	probably damaging	Het
Odad4	G	A	11: 100,444,887 (GRCm39)	A348T	probably damaging	Het
Or1af1	C	A	2: 37,109,901 (GRCm39)	N133K	probably benign	Het
Or1e23	G	T	11: 73,407,451 (GRCm39)	D191E	probably damaging	Het
Or2b2b	A	G	13: 21,858,769 (GRCm39)	L115P	probably damaging	Het
Pcare	G	T	17: 72,058,567 (GRCm39)	A370E	possibly damaging	Het
Pdlim5	T	A	3: 142,010,060 (GRCm39)	H294L	probably damaging	Het
Pdzd8	A	T	19: 59,288,057 (GRCm39)	D1114E	probably benign	Het
Phf20	T	G	2: 156,138,691 (GRCm39)		probably null	Het
Plec	C	T	15: 76,083,871 (GRCm39)		probably benign	Het
Ppp1r18	T	C	17: 36,178,128 (GRCm39)	M1T	probably null	Het
Ppp4r3a	G	A	12: 101,024,770 (GRCm39)	T243I	probably damaging	Het
Prss41	C	T	17: 24,061,390 (GRCm39)	V134I	probably benign	Het
Pter	T	C	2: 12,982,991 (GRCm39)		probably benign	Het
Rasgef1b	T	G	5: 99,382,461 (GRCm39)	K176N	possibly damaging	Het
Reps1	T	A	10: 17,931,758 (GRCm39)	D16E	probably benign	Het
Slc4a5	T	A	6: 83,238,397 (GRCm39)	D73E	probably benign	Het
Smgc	A	T	15: 91,744,861 (GRCm39)	T146S	possibly damaging	Het
Sptbn1	A	T	11: 30,093,174 (GRCm39)	W396R	possibly damaging	Het
Stkld1	A	G	2: 26,833,999 (GRCm39)	E162G	probably damaging	Het
Tanc1	T	C	2: 59,588,874 (GRCm39)	F106L	probably benign	Het
Tarbp1	A	G	8: 127,193,883 (GRCm39)	Y340H	probably damaging	Het
Tenm2	T	C	11: 35,938,009 (GRCm39)	I1556V	possibly damaging	Het
Tmem64	T	C	4: 15,266,288 (GRCm39)	C113R	probably damaging	Het
Try4	T	C	6: 41,281,977 (GRCm39)	F188L	possibly damaging	Het
Ucn3	A	G	13: 3,991,556 (GRCm39)	V32A	probably benign	Het
Vmn2r83	T	A	10: 79,327,183 (GRCm39)	M597K	possibly damaging	Het
Wdr90	A	G	17: 26,076,166 (GRCm39)	V491A	probably benign	Het
Xylt1	T	A	7: 117,255,717 (GRCm39)	M763K	possibly damaging	Het
Zfp507	G	T	7: 35,493,588 (GRCm39)	A485E	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
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
R5698:Krt14	UTSW	11	100,096,451 (GRCm39)	missense	probably benign	0.44
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'- CACTAGAAAGCCCTGGAAGG -3'
(R):5'- CTGGCCTACCTGAAGAAGAAC -3'

Sequencing Primer
(F):5'- CCTGGAAGGCAGGTACTCTG -3'
(R):5'- CTACCTGAAGAAGAACCACGAGG -3'

Posted On

2017-01-03