Mutagenetix > Incidental Mutation

Incidental Mutation 'R3080:Krt1'

265396

Institutional Source

Beutler Lab

Gene Symbol

Krt1

Ensembl Gene

ENSMUSG00000046834

Gene Name

keratin 1

Synonyms

Krt2-1, Krt-2.1

MMRRC Submission

040570-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.454) question?

Stock #

R3080 (G1)

Quality Score

119

Status

Not validated

Chromosome

Chromosomal Location

101753861-101759221 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101754622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 543 (G543S)

Ref Sequence

ENSEMBL: ENSMUSP00000023790 (fasta)

Gene Model

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

AlphaFold

P04104

Predicted Effect

unknown
Transcript: ENSMUST00000023790
AA Change: G543S

SMART Domains

Protein: ENSMUSP00000023790
Gene: ENSMUSG00000046834
AA Change: G543S

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amer3	T	G	1: 34,627,503 (GRCm39)	L581V	probably benign	Het
Anks4b	A	T	7: 119,781,146 (GRCm39)	D59V	probably damaging	Het
Cdc42bpb	A	G	12: 111,262,252 (GRCm39)	I75T	probably damaging	Het
Ces1c	A	C	8: 93,846,975 (GRCm39)	L93R	probably damaging	Het
Ciao2b	G	C	8: 105,368,259 (GRCm39)	R22G	possibly damaging	Het
Clca4a	T	A	3: 144,669,551 (GRCm39)	K333N	probably damaging	Het
Copa	G	T	1: 171,940,716 (GRCm39)	D710Y	probably damaging	Het
Cyp3a25	T	A	5: 145,935,341 (GRCm39)	I92F	probably benign	Het
Dcx	T	A	X: 142,706,266 (GRCm39)	D175V	probably damaging	Het
Fam76b	G	A	9: 13,744,458 (GRCm39)	G185D	probably benign	Het
Fastkd5	T	C	2: 130,457,373 (GRCm39)	M406V	possibly damaging	Het
Fbn2	G	A	18: 58,282,122 (GRCm39)	S298L	probably damaging	Het
Gak	T	C	5: 108,761,468 (GRCm39)	K188E	possibly damaging	Het
Gemin2	G	A	12: 59,071,877 (GRCm39)	C230Y	probably damaging	Het
Gm5150	A	C	3: 16,045,085 (GRCm39)	S47A	possibly damaging	Het
H3c2	A	G	13: 23,936,481 (GRCm39)	H40R	possibly damaging	Het
Herc3	A	T	6: 58,833,631 (GRCm39)		probably null	Het
Ighv5-6	T	A	12: 113,589,237 (GRCm39)	D81V	probably damaging	Het
Igkv13-54-1	A	G	6: 69,594,454 (GRCm39)		probably null	Het
Itgad	T	C	7: 127,784,959 (GRCm39)	I288T	possibly damaging	Het
Ltbp3	GTA	GTATA	19: 5,806,916 (GRCm39)		probably null	Het
Map4k2	G	A	19: 6,403,218 (GRCm39)	E774K	probably damaging	Het
Mbtps1	A	G	8: 120,257,944 (GRCm39)	V431A	probably benign	Het
Mbtps1	T	C	8: 120,265,602 (GRCm39)	D315G	probably damaging	Het
Nebl	A	G	2: 17,381,462 (GRCm39)	V738A	possibly damaging	Het
Npr3	G	C	15: 11,905,235 (GRCm39)	T164R	probably benign	Het
Or14j4	T	C	17: 37,921,169 (GRCm39)	T158A	probably benign	Het
Or6d14	T	G	6: 116,534,178 (GRCm39)	V264G	probably damaging	Het
Pcdhb3	T	G	18: 37,434,535 (GRCm39)	L167R	probably damaging	Het
Pcdhb8	A	T	18: 37,489,219 (GRCm39)	E299V	probably damaging	Het
Shcbp1l	A	G	1: 153,311,783 (GRCm39)	E312G	possibly damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc1a2	T	G	2: 102,578,901 (GRCm39)	L272R	probably damaging	Het
Slc35a5	A	T	16: 44,964,758 (GRCm39)	S152T	probably benign	Het
Tas2r136	C	A	6: 132,754,972 (GRCm39)	V52L	probably damaging	Het
Tbr1	C	T	2: 61,637,635 (GRCm39)	Q65*	probably null	Het
Tro	G	A	X: 149,438,198 (GRCm39)	T153I	probably benign	Het
Vmn1r222	A	G	13: 23,416,631 (GRCm39)	M194T	possibly damaging	Het
Vmn2r1	A	G	3: 63,997,205 (GRCm39)	D287G	probably damaging	Het
Vmn2r91	T	G	17: 18,355,973 (GRCm39)		probably null	Het
Zfp35	T	A	18: 24,136,367 (GRCm39)	I237N	probably damaging	Het

Other mutations in Krt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01133:Krt1	APN	15	101,756,628 (GRCm39)	missense	probably damaging	1.00
IGL01478:Krt1	APN	15	101,754,721 (GRCm39)	splice site	probably benign
IGL01919:Krt1	APN	15	101,754,811 (GRCm39)	missense	unknown
IGL01970:Krt1	APN	15	101,755,299 (GRCm39)	missense	possibly damaging	0.95
IGL02207:Krt1	APN	15	101,757,051 (GRCm39)	missense	possibly damaging	0.94
IGL02643:Krt1	APN	15	101,755,479 (GRCm39)	missense	probably benign	0.26
R0445:Krt1	UTSW	15	101,756,056 (GRCm39)	missense	probably damaging	1.00
R0683:Krt1	UTSW	15	101,758,901 (GRCm39)	missense	unknown
R1006:Krt1	UTSW	15	101,756,326 (GRCm39)	missense	possibly damaging	0.96
R1163:Krt1	UTSW	15	101,756,600 (GRCm39)	nonsense	probably null
R1217:Krt1	UTSW	15	101,757,416 (GRCm39)	missense	possibly damaging	0.90
R1325:Krt1	UTSW	15	101,756,641 (GRCm39)	splice site	probably null
R1965:Krt1	UTSW	15	101,757,427 (GRCm39)	missense	probably benign	0.13
R1966:Krt1	UTSW	15	101,757,427 (GRCm39)	missense	probably benign	0.13
R2101:Krt1	UTSW	15	101,754,622 (GRCm39)	missense	unknown
R2302:Krt1	UTSW	15	101,754,622 (GRCm39)	missense	unknown
R2697:Krt1	UTSW	15	101,755,364 (GRCm39)	missense	probably damaging	1.00
R3034:Krt1	UTSW	15	101,759,068 (GRCm39)	missense	unknown
R3079:Krt1	UTSW	15	101,754,622 (GRCm39)	missense	unknown
R3891:Krt1	UTSW	15	101,758,847 (GRCm39)	missense	unknown
R3892:Krt1	UTSW	15	101,758,847 (GRCm39)	missense	unknown
R4180:Krt1	UTSW	15	101,758,813 (GRCm39)	small deletion	probably benign
R4305:Krt1	UTSW	15	101,758,813 (GRCm39)	small deletion	probably benign
R4334:Krt1	UTSW	15	101,758,813 (GRCm39)	small deletion	probably benign
R4597:Krt1	UTSW	15	101,756,063 (GRCm39)	missense	possibly damaging	0.90
R4625:Krt1	UTSW	15	101,754,622 (GRCm39)	missense	unknown
R4626:Krt1	UTSW	15	101,754,622 (GRCm39)	missense	unknown
R4628:Krt1	UTSW	15	101,754,622 (GRCm39)	missense	unknown
R4629:Krt1	UTSW	15	101,754,622 (GRCm39)	missense	unknown
R4630:Krt1	UTSW	15	101,754,622 (GRCm39)	missense	unknown
R4631:Krt1	UTSW	15	101,754,622 (GRCm39)	missense	unknown
R4632:Krt1	UTSW	15	101,754,622 (GRCm39)	missense	unknown
R4633:Krt1	UTSW	15	101,754,622 (GRCm39)	missense	unknown
R4893:Krt1	UTSW	15	101,758,555 (GRCm39)	missense	probably damaging	1.00
R4948:Krt1	UTSW	15	101,754,376 (GRCm39)	missense	unknown
R5193:Krt1	UTSW	15	101,754,357 (GRCm39)	missense	unknown
R5254:Krt1	UTSW	15	101,754,803 (GRCm39)	missense	unknown
R5448:Krt1	UTSW	15	101,757,464 (GRCm39)	nonsense	probably null
R5494:Krt1	UTSW	15	101,759,149 (GRCm39)	missense	unknown
R5567:Krt1	UTSW	15	101,755,340 (GRCm39)	missense	probably benign	0.12
R5570:Krt1	UTSW	15	101,755,340 (GRCm39)	missense	probably benign	0.12
R5869:Krt1	UTSW	15	101,758,566 (GRCm39)	missense	probably damaging	1.00
R6200:Krt1	UTSW	15	101,758,813 (GRCm39)	small deletion	probably benign
R6224:Krt1	UTSW	15	101,758,702 (GRCm39)	missense	possibly damaging	0.92
R6326:Krt1	UTSW	15	101,758,684 (GRCm39)	missense	probably damaging	1.00
R6517:Krt1	UTSW	15	101,758,702 (GRCm39)	missense	possibly damaging	0.92
R6525:Krt1	UTSW	15	101,758,813 (GRCm39)	small deletion	probably benign
R6918:Krt1	UTSW	15	101,758,612 (GRCm39)	missense	probably damaging	1.00
R7018:Krt1	UTSW	15	101,758,813 (GRCm39)	small deletion	probably benign
R7040:Krt1	UTSW	15	101,758,813 (GRCm39)	small deletion	probably benign
R7110:Krt1	UTSW	15	101,758,813 (GRCm39)	small deletion	probably benign
R7296:Krt1	UTSW	15	101,759,064 (GRCm39)	missense	unknown
R7368:Krt1	UTSW	15	101,755,307 (GRCm39)	missense	probably damaging	1.00
R7549:Krt1	UTSW	15	101,758,813 (GRCm39)	small deletion	probably benign
R7706:Krt1	UTSW	15	101,758,813 (GRCm39)	small deletion	probably benign
R8416:Krt1	UTSW	15	101,758,813 (GRCm39)	small deletion	probably benign
R8418:Krt1	UTSW	15	101,758,813 (GRCm39)	small deletion	probably benign
R8842:Krt1	UTSW	15	101,758,813 (GRCm39)	small deletion	probably benign
R8914:Krt1	UTSW	15	101,758,813 (GRCm39)	small deletion	probably benign
R8964:Krt1	UTSW	15	101,758,813 (GRCm39)	small deletion	probably benign
R8979:Krt1	UTSW	15	101,755,340 (GRCm39)	missense	probably benign	0.12
R8988:Krt1	UTSW	15	101,758,813 (GRCm39)	small deletion	probably benign
R9134:Krt1	UTSW	15	101,758,813 (GRCm39)	small deletion	probably benign
R9248:Krt1	UTSW	15	101,758,813 (GRCm39)	small deletion	probably benign
R9380:Krt1	UTSW	15	101,758,813 (GRCm39)	small deletion	probably benign
R9404:Krt1	UTSW	15	101,758,813 (GRCm39)	small deletion	probably benign
R9430:Krt1	UTSW	15	101,758,813 (GRCm39)	small deletion	probably benign
R9638:Krt1	UTSW	15	101,758,813 (GRCm39)	small deletion	probably benign
R9768:Krt1	UTSW	15	101,758,813 (GRCm39)	small deletion	probably benign
RF003:Krt1	UTSW	15	101,758,813 (GRCm39)	small deletion	probably benign
X0067:Krt1	UTSW	15	101,756,190 (GRCm39)	critical splice donor site	probably null
Z1177:Krt1	UTSW	15	101,758,970 (GRCm39)	missense	unknown
Z1177:Krt1	UTSW	15	101,754,451 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACTGCCAGAGGACTTAACGC -3'
(R):5'- GATGTCTGGAGAGTGCACTC -3'

Sequencing Primer
(F):5'- GAGGACTTAACGCCACCG -3'
(R):5'- AGAGTGCACTCCCAACGTGAG -3'

Posted On

2015-02-05