Mutagenetix > Incidental Mutation

Incidental Mutation 'R1006:Krt1'

95805

Institutional Source

Beutler Lab

Gene Symbol

Krt1

Ensembl Gene

ENSMUSG00000046834

Gene Name

keratin 1

Synonyms

Krt2-1, Krt-2.1

MMRRC Submission

039116-MU

Accession Numbers

Essential gene?

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

Stock #

R1006 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101753861-101759221 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101756326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 340 (E340K)

Ref Sequence

ENSEMBL: ENSMUSP00000023790 (fasta)

Gene Model

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

AlphaFold

P04104

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023790
AA Change: E340K

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023790
Gene: ENSMUSG00000046834
AA Change: E340K

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

0.2376

Coding Region Coverage

1x: 99.3%
3x: 97.8%
10x: 93.4%
20x: 82.9%

Validation Efficiency

100% (43/43)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	A	T	8: 71,911,085 (GRCm39)	I282N	probably benign	Het
Akr1c18	T	C	13: 4,186,654 (GRCm39)	I265V	probably benign	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Arfgef1	T	C	1: 10,210,706 (GRCm39)	I1788V	probably benign	Het
Cacng7	T	A	7: 3,415,445 (GRCm39)	I270N	possibly damaging	Het
Ccdc81	C	T	7: 89,515,769 (GRCm39)	E637K	probably benign	Het
Cnbd2	A	G	2: 156,170,328 (GRCm39)	I138V	possibly damaging	Het
Cntnap5b	A	G	1: 100,311,342 (GRCm39)	K983E	probably benign	Het
Col14a1	T	C	15: 55,383,331 (GRCm39)	S1770P	probably benign	Het
Cpsf6	A	T	10: 117,201,973 (GRCm39)		probably benign	Het
Ctsc	G	A	7: 87,959,037 (GRCm39)	R439H	probably damaging	Het
Dcun1d1	A	G	3: 35,951,930 (GRCm39)		probably benign	Het
Flg2	A	G	3: 93,108,514 (GRCm39)	I181V	probably benign	Het
Gbp2	A	T	3: 142,343,183 (GRCm39)	S567C	probably damaging	Het
Gm5114	A	G	7: 39,058,510 (GRCm39)	S370P	probably damaging	Het
Kcnh7	A	G	2: 62,546,527 (GRCm39)	V1018A	probably benign	Het
Kmt2a	G	A	9: 44,758,993 (GRCm39)	A952V	probably damaging	Het
Lim2	T	A	7: 43,084,826 (GRCm39)	I141N	probably damaging	Het
Nlrp4a	T	C	7: 26,152,892 (GRCm39)	V654A	probably benign	Het
Or5b24	T	A	19: 12,912,638 (GRCm39)	C179S	probably damaging	Het
Prr14l	T	C	5: 32,986,826 (GRCm39)	S890G	probably benign	Het
Psmd14	T	A	2: 61,627,726 (GRCm39)		probably null	Het
Ptpn13	A	G	5: 103,734,655 (GRCm39)	D2129G	probably benign	Het
Pum1	C	T	4: 130,499,199 (GRCm39)	T760M	probably damaging	Het
Rif1	A	G	2: 51,975,041 (GRCm39)	I317V	probably damaging	Het
Sh3bgrl2	C	T	9: 83,459,684 (GRCm39)		probably benign	Het
Slfn8	A	T	11: 82,894,337 (GRCm39)	H767Q	possibly damaging	Het
Sned1	G	A	1: 93,184,114 (GRCm39)	G114D	probably damaging	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Tenm3	A	T	8: 48,681,577 (GRCm39)	D2684E	probably damaging	Het
Tet2	T	C	3: 133,182,362 (GRCm39)	T1201A	possibly damaging	Het
Vax2	T	C	6: 83,714,759 (GRCm39)	S225P	probably damaging	Het
Vcan	A	G	13: 89,833,196 (GRCm39)		probably null	Het
Washc5	T	A	15: 59,241,035 (GRCm39)	Q100L	probably benign	Het
Washc5	G	T	15: 59,241,036 (GRCm39)	Q100K	probably benign	Het
Zc3h13	A	G	14: 75,567,989 (GRCm39)	D1094G	probably damaging	Het
Zmiz1	A	G	14: 25,663,404 (GRCm39)	Y1051C	unknown	Het
Zswim2	G	A	2: 83,745,737 (GRCm39)	S567L	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
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
R3080: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'- ATCCCAGAGAACCAGCGAAGTGTG -3'
(R):5'- TGCCCTCCAGCAAGACATTGAC -3'

Sequencing Primer
(F):5'- CGAGATGATGCCATCCAGAT -3'
(R):5'- GAATTTCAAGCTACCTACCTTGAGTC -3'

Posted On

2014-01-05