Mutagenetix > Incidental Mutation

Incidental Mutation 'R0848:Krt14'

77442

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

039027-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0848 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100093988-100098336 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100095090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 379 (I379N)

Ref Sequence

ENSEMBL: ENSMUSP00000007272 (fasta)

Gene Model

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

AlphaFold

Q61781

Predicted Effect

probably damaging
Transcript: ENSMUST00000007272
AA Change: I379N

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

SMART Domains

Protein: ENSMUSP00000007272
Gene: ENSMUSG00000045545
AA Change: I379N

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: 99.4%
3x: 98.7%
10x: 97.3%
20x: 94.5%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,114,984 (GRCm39)	H181Q	probably damaging	Het
Abca13	T	A	11: 9,632,011 (GRCm39)	L4977*	probably null	Het
Abca8a	T	A	11: 109,919,016 (GRCm39)	Y1550F	probably damaging	Het
Actr2	C	T	11: 20,022,584 (GRCm39)	E296K	probably benign	Het
Agtpbp1	A	T	13: 59,681,753 (GRCm39)		probably benign	Het
Anks1b	A	C	10: 89,906,987 (GRCm39)	E268A	probably damaging	Het
C1rl	A	G	6: 124,485,465 (GRCm39)	T279A	probably benign	Het
C5ar2	T	C	7: 15,971,526 (GRCm39)	T134A	probably benign	Het
Cdkl3	G	A	11: 51,902,094 (GRCm39)	R101Q	probably damaging	Het
Celsr2	A	T	3: 108,321,654 (GRCm39)	F386Y	probably benign	Het
Chd1	C	T	17: 15,990,503 (GRCm39)	P1685L	probably damaging	Het
Chrne	G	T	11: 70,506,239 (GRCm39)	H402Q	probably benign	Het
Clvs1	A	G	4: 9,282,003 (GRCm39)	D149G	possibly damaging	Het
Cntnap5b	T	C	1: 100,182,888 (GRCm39)	Y620H	probably benign	Het
Col6a1	A	G	10: 76,549,458 (GRCm39)		probably null	Het
Cyp2d26	T	A	15: 82,674,434 (GRCm39)	I483F	probably benign	Het
Dlx6	C	T	6: 6,863,665 (GRCm39)	Q96*	probably null	Het
Dmac2l	A	T	12: 69,788,584 (GRCm39)	H161L	probably benign	Het
Eif1a	T	A	18: 46,741,114 (GRCm39)	N116K	possibly damaging	Het
Epb41l5	A	T	1: 119,477,684 (GRCm39)	C696S	probably benign	Het
Exoc7	A	G	11: 116,186,074 (GRCm39)	S376P	possibly damaging	Het
Fads1	C	T	19: 10,160,429 (GRCm39)	P5L	probably benign	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gimap7	T	C	6: 48,700,657 (GRCm39)	I81T	probably damaging	Het
Gtf2a1l	T	C	17: 89,001,657 (GRCm39)	V171A	probably damaging	Het
Hax1	A	G	3: 89,902,940 (GRCm39)	S253P	probably damaging	Het
Hsd3b5	A	T	3: 98,526,671 (GRCm39)	D258E	probably damaging	Het
Kcnb1	G	T	2: 166,948,187 (GRCm39)	F220L	probably damaging	Het
Kif1a	T	A	1: 92,947,620 (GRCm39)	Y1708F	probably damaging	Het
Lpxn	A	G	19: 12,781,401 (GRCm39)	I40V	probably benign	Het
Lrp1	C	T	10: 127,389,231 (GRCm39)		probably null	Het
Lyst	G	A	13: 13,809,515 (GRCm39)	R395H	probably benign	Het
Mindy4	G	A	6: 55,295,271 (GRCm39)	W737*	probably null	Het
Mki67	C	A	7: 135,302,772 (GRCm39)	R754L	probably benign	Het
Morf4l1	A	G	9: 89,982,502 (GRCm39)	V144A	probably benign	Het
Mvb12a	T	C	8: 71,998,422 (GRCm39)	S186P	probably benign	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Nipal1	A	G	5: 72,825,183 (GRCm39)	N292S	probably damaging	Het
Nqo2	T	G	13: 34,156,461 (GRCm39)		probably null	Het
Or14a256	T	C	7: 86,264,848 (GRCm39)	Y335C	probably damaging	Het
Or2d3b	A	G	7: 106,514,200 (GRCm39)	K265R	probably benign	Het
Or5ak24	A	T	2: 85,260,365 (GRCm39)	N269K	probably benign	Het
Or6c214	C	T	10: 129,591,077 (GRCm39)	V81I	probably benign	Het
Osbpl7	C	A	11: 96,951,350 (GRCm39)	P507Q	probably damaging	Het
Pcdhb1	G	A	18: 37,400,475 (GRCm39)	G809S	probably benign	Het
Pcm1	T	C	8: 41,735,720 (GRCm39)	V846A	probably damaging	Het
Phf3	A	G	1: 30,902,253 (GRCm39)	L20P	probably damaging	Het
Pih1d1	A	G	7: 44,807,041 (GRCm39)	T58A	probably damaging	Het
Plekhn1	A	G	4: 156,308,021 (GRCm39)		probably null	Het
Plvap	A	T	8: 71,959,526 (GRCm39)	L422Q	probably damaging	Het
Polq	C	T	16: 36,882,492 (GRCm39)	A1273V	probably benign	Het
Prelid2	T	A	18: 42,068,289 (GRCm39)	I51F	probably damaging	Het
Ptpn18	G	A	1: 34,501,783 (GRCm39)	D8N	probably damaging	Het
Ptpra	T	A	2: 130,360,911 (GRCm39)	F190Y	probably damaging	Het
Pus7l	A	G	15: 94,438,393 (GRCm39)	S151P	probably benign	Het
Rsph6a	G	A	7: 18,791,595 (GRCm39)	D255N	probably benign	Het
Serpinb6c	A	T	13: 34,083,288 (GRCm39)	V42D	probably damaging	Het
Slc7a13	A	G	4: 19,818,866 (GRCm39)	N22S	probably benign	Het
Snx5	G	A	2: 144,095,726 (GRCm39)	R312C	probably damaging	Het
Stard9	T	C	2: 120,526,304 (GRCm39)	S854P	probably damaging	Het
Syne2	AAGAG	AAGAGAGAG	12: 76,144,733 (GRCm39)		probably null	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,144,734 (GRCm39)		probably null	Het
Tlr12	A	G	4: 128,510,084 (GRCm39)	I722T	probably benign	Het
Tmem101	A	T	11: 102,046,692 (GRCm39)	M59K	possibly damaging	Het
Trim34a	C	T	7: 103,910,331 (GRCm39)	R378C	probably benign	Het
Trim35	T	A	14: 66,546,574 (GRCm39)	M447K	probably benign	Het
Trps1	C	A	15: 50,524,945 (GRCm39)	S704I	possibly damaging	Het
Vmn1r231	T	A	17: 21,110,433 (GRCm39)	S161C	probably damaging	Het
Vps13a	A	C	19: 16,676,261 (GRCm39)	N1237K	probably damaging	Het
Zfp619	G	T	7: 39,185,983 (GRCm39)	C671F	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
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
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'- TGAACTAAAGGGCCAGGCACTCAC -3'
(R):5'- TTCACAGACAGAGGAGCTGAACCG -3'

Sequencing Primer
(F):5'- CCAGGCACTCACTGGGC -3'
(R):5'- AACCTGGAGATCGAGCTGC -3'

Posted On

2013-10-16