Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01133:Krt1'

52840

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krt1

Ensembl Gene

ENSMUSG00000046834

Gene Name

keratin 1

Synonyms

Krt-2.1, Krt2-1

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.404) question?

Stock #

IGL01133

Quality Score

Status

Chromosome

Chromosomal Location

101845426-101850794 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101848193 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 298 (D298E)

Ref Sequence

ENSEMBL: ENSMUSP00000023790 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023790]

Predicted Effect

probably damaging
Transcript: ENSMUST00000023790
AA Change: D298E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023790
Gene: ENSMUSG00000046834
AA Change: D298E

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	19	184	7.5e-35	PFAM
Filament	187	500	1.02e-154	SMART
Pfam:Keratin_2_tail	501	633	7.6e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230798

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231047

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for a dominant mutation exhibit significant blistering and skin erosions at birth and develop severe hyperkeratosis as adults. Mice homozygous for the dominant mutation also exhibit blistering, and die before weaning age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,595,434	D486E	probably damaging	Het
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
1700007G11Rik	T	C	5: 98,498,381		probably null	Het
Adam4	T	C	12: 81,421,446	T134A	possibly damaging	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
BC005561	A	G	5: 104,517,662	T17A	probably benign	Het
Cartpt	T	G	13: 99,900,040	I67L	probably benign	Het
Cc2d1a	G	T	8: 84,143,404	H161N	probably benign	Het
Ccer1	T	C	10: 97,694,539	F355L	probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Cfap36	A	C	11: 29,234,414	V114G	probably damaging	Het
Col4a3bp	A	G	13: 96,614,802	E320G	probably damaging	Het
Cyp2b9	G	A	7: 26,210,235	G476D	probably damaging	Het
Eif3l	T	C	15: 79,076,920	Y58H	possibly damaging	Het
Gapvd1	T	C	2: 34,725,398	Y411C	probably damaging	Het
Gm27029	G	T	11: 101,411,960	F236L	possibly damaging	Het
Golga1	T	C	2: 39,023,472	T501A	probably benign	Het
Heg1	C	T	16: 33,727,287	H815Y	probably benign	Het
Mecr	T	A	4: 131,843,596	S32T	probably benign	Het
Med1	A	T	11: 98,157,986	Y661*	probably null	Het
Olfr419	T	C	1: 174,250,526	S134G	probably benign	Het
Pla2g12b	G	T	10: 59,416,417	A37S	probably benign	Het
Plekha7	G	T	7: 116,145,241		probably null	Het
Ralgapa1	T	C	12: 55,642,348	I1989V	probably damaging	Het
Ralgapa1	T	C	12: 55,642,359	H1938R	probably damaging	Het
Sec31b	A	G	19: 44,527,041	F309S	probably damaging	Het
Serpina3a	T	C	12: 104,121,499	I227T	probably benign	Het
Slc1a3	A	G	15: 8,645,687	I278T	probably damaging	Het
Slc1a3	T	C	15: 8,650,993	Y127C	probably damaging	Het
Spen	T	C	4: 141,489,901	K449R	unknown	Het
Tmem130	A	G	5: 144,752,445	S129P	probably damaging	Het
Trim68	A	T	7: 102,679,141		probably null	Het
Vdac3-ps1	T	C	13: 18,031,449		noncoding transcript	Het
Vmn2r75	A	G	7: 86,148,032		probably benign	Het
Zbtb9	G	T	17: 26,975,011		probably benign	Het
Zfp568	T	A	7: 29,987,808		probably null	Het

Other mutations in Krt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01478:Krt1	APN	15	101846286	splice site	probably benign
IGL01919:Krt1	APN	15	101846376	missense	unknown
IGL01970:Krt1	APN	15	101846864	missense	possibly damaging	0.95
IGL02207:Krt1	APN	15	101848616	missense	possibly damaging	0.94
IGL02643:Krt1	APN	15	101847044	missense	probably benign	0.26
R0445:Krt1	UTSW	15	101847621	missense	probably damaging	1.00
R0683:Krt1	UTSW	15	101850466	missense	unknown
R1006:Krt1	UTSW	15	101847891	missense	possibly damaging	0.96
R1163:Krt1	UTSW	15	101848165	nonsense	probably null
R1217:Krt1	UTSW	15	101848981	missense	possibly damaging	0.90
R1325:Krt1	UTSW	15	101848206	splice site	probably null
R1965:Krt1	UTSW	15	101848992	missense	probably benign	0.13
R1966:Krt1	UTSW	15	101848992	missense	probably benign	0.13
R2101:Krt1	UTSW	15	101846187	missense	unknown
R2302:Krt1	UTSW	15	101846187	missense	unknown
R2697:Krt1	UTSW	15	101846929	missense	probably damaging	1.00
R3034:Krt1	UTSW	15	101850633	missense	unknown
R3079:Krt1	UTSW	15	101846187	missense	unknown
R3080:Krt1	UTSW	15	101846187	missense	unknown
R3891:Krt1	UTSW	15	101850412	missense	unknown
R3892:Krt1	UTSW	15	101850412	missense	unknown
R4180:Krt1	UTSW	15	101850378	small deletion	probably benign
R4305:Krt1	UTSW	15	101850378	small deletion	probably benign
R4334:Krt1	UTSW	15	101850378	small deletion	probably benign
R4597:Krt1	UTSW	15	101847628	missense	possibly damaging	0.90
R4625:Krt1	UTSW	15	101846187	missense	unknown
R4626:Krt1	UTSW	15	101846187	missense	unknown
R4628:Krt1	UTSW	15	101846187	missense	unknown
R4629:Krt1	UTSW	15	101846187	missense	unknown
R4630:Krt1	UTSW	15	101846187	missense	unknown
R4631:Krt1	UTSW	15	101846187	missense	unknown
R4632:Krt1	UTSW	15	101846187	missense	unknown
R4633:Krt1	UTSW	15	101846187	missense	unknown
R4893:Krt1	UTSW	15	101850120	missense	probably damaging	1.00
R4948:Krt1	UTSW	15	101845941	missense	unknown
R5193:Krt1	UTSW	15	101845922	missense	unknown
R5254:Krt1	UTSW	15	101846368	missense	unknown
R5448:Krt1	UTSW	15	101849029	nonsense	probably null
R5494:Krt1	UTSW	15	101850714	missense	unknown
R5567:Krt1	UTSW	15	101846905	missense	probably benign	0.12
R5570:Krt1	UTSW	15	101846905	missense	probably benign	0.12
R5869:Krt1	UTSW	15	101850131	missense	probably damaging	1.00
R6200:Krt1	UTSW	15	101850378	small deletion	probably benign
R6224:Krt1	UTSW	15	101850267	missense	possibly damaging	0.92
R6326:Krt1	UTSW	15	101850249	missense	probably damaging	1.00
R6517:Krt1	UTSW	15	101850267	missense	possibly damaging	0.92
R6525:Krt1	UTSW	15	101850378	small deletion	probably benign
R6918:Krt1	UTSW	15	101850177	missense	probably damaging	1.00
R7018:Krt1	UTSW	15	101850378	small deletion	probably benign
R7040:Krt1	UTSW	15	101850378	small deletion	probably benign
R7110:Krt1	UTSW	15	101850378	small deletion	probably benign
R7296:Krt1	UTSW	15	101850629	missense	unknown
R7368:Krt1	UTSW	15	101846872	missense	probably damaging	1.00
R7549:Krt1	UTSW	15	101850378	small deletion	probably benign
R7706:Krt1	UTSW	15	101850378	small deletion	probably benign
R8416:Krt1	UTSW	15	101850378	small deletion	probably benign
R8418:Krt1	UTSW	15	101850378	small deletion	probably benign
RF003:Krt1	UTSW	15	101850378	small deletion	probably benign
X0067:Krt1	UTSW	15	101847755	critical splice donor site	probably null
Z1177:Krt1	UTSW	15	101846016	missense	unknown
Z1177:Krt1	UTSW	15	101850535	missense	unknown

Posted On

2013-06-21