Mutagenetix > Incidental Mutation

Incidental Mutation 'R7018:Krt1'

545468

Institutional Source

Beutler Lab

Gene Symbol

Krt1

Ensembl Gene

ENSMUSG00000046834

Gene Name

keratin 1

Synonyms

Krt-2.1, Krt2-1

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.597) question?

Stock #

R7018 (G1)

Quality Score

214.458

Status

Validated

Chromosome

Chromosomal Location

101845426-101850794 bp(-) (GRCm38)

Type of Mutation

small deletion (10 aa in frame mutation)

DNA Base Change (assembly)

AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC to AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC at 101850378 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000023790 (fasta)

Gene Model

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

AlphaFold

P04104

Predicted Effect

probably benign
Transcript: ENSMUST00000023790

SMART Domains

Protein: ENSMUSP00000023790
Gene: ENSMUSG00000046834

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (64/64)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apcdd1	G	T	18: 62,937,049	R129L	probably damaging	Het
Arhgef28	C	T	13: 97,965,435	V844I	probably damaging	Het
Arhgef5	T	C	6: 43,288,731	V1569A	probably damaging	Het
Atr	T	A	9: 95,866,694	S431T	probably benign	Het
Cdh11	T	C	8: 102,634,321	D795G	possibly damaging	Het
Crygf	T	C	1: 65,927,971	S85P	probably benign	Het
Diexf	A	G	1: 193,114,855	I563T	probably benign	Het
Dip2c	T	A	13: 9,659,278	Y1385N	probably damaging	Het
Dnah14	G	A	1: 181,626,944	V840I	possibly damaging	Het
Dsg1a	T	C	18: 20,328,738	F299L	possibly damaging	Het
Fgfr4	A	T	13: 55,166,200	S576C	probably damaging	Het
Frmd8	T	C	19: 5,869,518	D167G	probably damaging	Het
Gm5105	G	A	3: 138,049,558	T89I	unknown	Het
Grhl1	C	T	12: 24,575,997	S35L	possibly damaging	Het
Gsn	A	G	2: 35,293,506	E242G	probably benign	Het
Hcrtr1	A	G	4: 130,135,868	I140T	probably damaging	Het
Ifnlr1	T	C	4: 135,703,824	Y208H	possibly damaging	Het
Ighv1-58	T	C	12: 115,312,365	Y51C	probably damaging	Het
Iqcj	T	A	3: 68,041,247	Y21*	probably null	Het
Kcnc4	T	C	3: 107,458,862	Y10C	probably benign	Het
Kcnk7	G	T	19: 5,706,132	G129W	probably damaging	Het
Kcnq2	T	A	2: 181,081,724	R620*	probably null	Het
Klk13	C	A	7: 43,726,702	P267Q	probably benign	Het
L3mbtl4	G	A	17: 68,486,943	R314H	probably damaging	Het
Lamc2	T	A	1: 153,136,742	M729L	probably benign	Het
Lyst	T	G	13: 13,743,459		probably null	Het
Med13l	G	A	5: 118,751,986	R1909H	probably damaging	Het
Mstn	T	A	1: 53,064,084	L193Q	possibly damaging	Het
Mylk	T	C	16: 35,000,426	V125A	possibly damaging	Het
Nalcn	T	A	14: 123,409,821	M547L	probably damaging	Het
Nckap5	A	G	1: 126,025,048	S1256P	probably damaging	Het
Nkain1	T	C	4: 130,532,118	Y189C	probably damaging	Het
Olfr1164	T	A	2: 88,093,256	I227F	probably benign	Het
Olfr193	A	G	16: 59,110,607	M1T	probably null	Het
Olfr490	T	G	7: 108,286,344	I261L	probably benign	Het
Olfr761	A	T	17: 37,952,502	I174N	probably damaging	Het
Oosp3	T	A	19: 11,699,419	D47E	probably benign	Het
Pcdh15	G	T	10: 74,466,354	G942W	probably damaging	Het
Pcyox1l	C	A	18: 61,707,554		probably benign	Het
Peg3	T	C	7: 6,708,839	E1128G	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Plscr1	T	A	9: 92,264,662	V119D	probably damaging	Het
Prss56	A	T	1: 87,185,948	D258V	possibly damaging	Het
Ptpn23	T	G	9: 110,385,816	K85Q	possibly damaging	Het
Ranbp3l	C	A	15: 9,007,285	S7Y	probably benign	Het
Rnf31	T	C	14: 55,592,233	L85P	probably damaging	Het
Rptn	T	C	3: 93,397,900	C847R	possibly damaging	Het
Six4	T	A	12: 73,108,953	E413D	probably benign	Het
Slc30a2	G	A	4: 134,347,415	R161Q	probably damaging	Het
Sned1	T	C	1: 93,284,421	V1115A	probably damaging	Het
Spen	T	C	4: 141,493,444	K401E	unknown	Het
Srbd1	T	A	17: 86,136,415	R128W	possibly damaging	Het
Strc	A	T	2: 121,369,058	I1300N	probably damaging	Het
Susd1	T	G	4: 59,390,627	T230P	probably benign	Het
Thumpd2	G	T	17: 81,055,897	S47*	probably null	Het
Tmprss11a	C	T	5: 86,428,570	V141I	probably damaging	Het
Tmprss15	T	C	16: 79,024,853	Y438C	possibly damaging	Het
Tnfrsf1a	T	C	6: 125,356,951	S56P	probably damaging	Het
Ttc39d	T	C	17: 80,216,181	W90R	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Wdr20rt	A	T	12: 65,225,762		probably null	Het
Zfp646	C	A	7: 127,882,322	Q1224K	probably benign	Het

Other mutations in Krt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01133:Krt1	APN	15	101848193	missense	probably damaging	1.00
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
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
R8842:Krt1	UTSW	15	101850378	small deletion	probably benign
R8914:Krt1	UTSW	15	101850378	small deletion	probably benign
R8964:Krt1	UTSW	15	101850378	small deletion	probably benign
R8979:Krt1	UTSW	15	101846905	missense	probably benign	0.12
R8988:Krt1	UTSW	15	101850378	small deletion	probably benign
R9134:Krt1	UTSW	15	101850378	small deletion	probably benign
R9248:Krt1	UTSW	15	101850378	small deletion	probably benign
R9380:Krt1	UTSW	15	101850378	small deletion	probably benign
R9404:Krt1	UTSW	15	101850378	small deletion	probably benign
R9430:Krt1	UTSW	15	101850378	small deletion	probably benign
R9638:Krt1	UTSW	15	101850378	small deletion	probably benign
R9768: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

Predicted Primers

PCR Primer
(F):5'- TCAACGTTGAGGGGTTGCAG -3'
(R):5'- CAGATCCACCAGCAGCTCTATG -3'

Sequencing Primer
(F):5'- CAGAAGGCTTTGGTTGATGGTCAC -3'
(R):5'- AGATTTTCAGGAGGAGGCTTC -3'

Posted On

2019-05-13