Mutagenetix > Incidental Mutation

Incidental Mutation 'R1163:Krt1'

100692

Institutional Source

Beutler Lab

Gene Symbol

Krt1

Ensembl Gene

ENSMUSG00000046834

Gene Name

keratin 1

Synonyms

Krt2-1, Krt-2.1

MMRRC Submission

039236-MU

Accession Numbers

Essential gene?

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

Stock #

R1163 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101753861-101759221 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 101756600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 308 (E308*)

Ref Sequence

ENSEMBL: ENSMUSP00000023790 (fasta)

Gene Model

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

AlphaFold

P04104

Predicted Effect

probably null
Transcript: ENSMUST00000023790
AA Change: E308*

SMART Domains

Protein: ENSMUSP00000023790
Gene: ENSMUSG00000046834
AA Change: E308*

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

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	A	10: 86,957,284 (GRCm39)	Y7N	probably damaging	Het
4930579F01Rik	T	G	3: 137,882,271 (GRCm39)	D18A	probably damaging	Het
Abca8a	T	C	11: 109,962,356 (GRCm39)	D499G	probably benign	Het
Adamts1	G	C	16: 85,599,525 (GRCm39)	A25G	probably benign	Het
Adamts2	A	T	11: 50,670,541 (GRCm39)	I552F	probably damaging	Het
Akap3	A	G	6: 126,841,750 (GRCm39)	D123G	probably damaging	Het
Ankar	C	T	1: 72,727,864 (GRCm39)	V350I	possibly damaging	Het
Apob	A	G	12: 8,061,654 (GRCm39)	T3379A	probably damaging	Het
Ash1l	G	T	3: 88,942,570 (GRCm39)		probably null	Het
Atp2b1	T	C	10: 98,815,713 (GRCm39)	I119T	possibly damaging	Het
B3gnt2	A	T	11: 22,786,558 (GRCm39)	M210K	probably benign	Het
Bcl11a	A	G	11: 24,115,143 (GRCm39)	N829D	probably benign	Het
Btnl4	T	C	17: 34,689,049 (GRCm39)	E337G	possibly damaging	Het
Casr	A	T	16: 36,315,169 (GRCm39)	V967D	probably damaging	Het
Cd200	A	T	16: 45,212,715 (GRCm39)	V244D	probably damaging	Het
Cd200r4	A	G	16: 44,658,383 (GRCm39)	N256D	probably benign	Het
Cep68	A	G	11: 20,190,539 (GRCm39)	S158P	probably damaging	Het
Chst10	A	T	1: 38,910,783 (GRCm39)	V123D	probably damaging	Het
Cobll1	T	C	2: 64,928,623 (GRCm39)	H938R	probably damaging	Het
Creld2	G	A	15: 88,704,834 (GRCm39)	W103*	probably null	Het
Dmkn	T	G	7: 30,464,476 (GRCm39)	C205G	probably damaging	Het
Dock8	A	G	19: 25,028,867 (GRCm39)	I24V	probably benign	Het
Dpp3	C	T	19: 4,964,951 (GRCm39)	W488*	probably null	Het
Dpp9	C	A	17: 56,506,426 (GRCm39)	A365S	possibly damaging	Het
Egfr	A	T	11: 16,833,546 (GRCm39)	T605S	probably benign	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Fam83g	T	C	11: 61,594,262 (GRCm39)	S599P	probably damaging	Het
Fscn1	G	T	5: 142,946,598 (GRCm39)	W132L	probably damaging	Het
Gbp2b	A	G	3: 142,304,857 (GRCm39)	T98A	probably damaging	Het
Gm4922	C	T	10: 18,659,469 (GRCm39)	A418T	possibly damaging	Het
Golgb1	G	T	16: 36,736,488 (GRCm39)	V1912L	possibly damaging	Het
Gon4l	T	C	3: 88,799,842 (GRCm39)	L829P	probably damaging	Het
Grm3	T	A	5: 9,620,738 (GRCm39)	I169L	probably benign	Het
Gsdma2	A	G	11: 98,541,684 (GRCm39)	D137G	probably damaging	Het
Hhip	T	C	8: 80,719,105 (GRCm39)	Y474C	probably damaging	Het
Hsph1	A	T	5: 149,554,266 (GRCm39)	V163E	probably damaging	Het
Ifi203	T	C	1: 173,751,703 (GRCm39)	K373E	probably damaging	Het
Itsn2	A	G	12: 4,762,009 (GRCm39)	T1540A	probably benign	Het
Kdm1b	T	C	13: 47,225,398 (GRCm39)	V527A	probably benign	Het
Kdm5d	G	A	Y: 898,029 (GRCm39)	A22T	probably benign	Het
Khdrbs1	A	T	4: 129,619,379 (GRCm39)	F254Y	possibly damaging	Het
Kif26a	T	C	12: 112,146,379 (GRCm39)	F1822L	probably benign	Het
Lrrc47	T	A	4: 154,096,274 (GRCm39)	M1K	probably null	Het
Mrgpra4	A	T	7: 47,631,224 (GRCm39)	W126R	probably damaging	Het
Nlrp4e	G	A	7: 23,020,397 (GRCm39)	V295I	probably benign	Het
Or1l4b	A	T	2: 37,037,039 (GRCm39)	T272S	probably damaging	Het
Or2f1	G	A	6: 42,721,057 (GRCm39)	V29I	probably benign	Het
Or4c10	G	T	2: 89,760,449 (GRCm39)	V99F	possibly damaging	Het
Or5ac19	A	G	16: 59,089,518 (GRCm39)	S171P	probably benign	Het
Or5ac24	A	T	16: 59,165,425 (GRCm39)	I213N	probably damaging	Het
Or5b96	T	A	19: 12,867,513 (GRCm39)	T143S	probably benign	Het
Or6c66	A	G	10: 129,461,516 (GRCm39)	V138A	possibly damaging	Het
Or8h10	A	G	2: 86,809,020 (GRCm39)	L40P	probably damaging	Het
Or8k41	A	T	2: 86,313,582 (GRCm39)	F168Y	probably damaging	Het
Plec	G	T	15: 76,068,038 (GRCm39)	N1190K	possibly damaging	Het
Plin1	T	C	7: 79,379,719 (GRCm39)	T44A	probably damaging	Het
Pou3f2	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	4: 22,487,697 (GRCm39)		probably benign	Het
Pramel22	A	G	4: 143,383,204 (GRCm39)	L5P	probably damaging	Het
Psg27	A	G	7: 18,299,234 (GRCm39)	L29P	probably damaging	Het
Psmd13	C	A	7: 140,477,367 (GRCm39)	T292N	probably damaging	Het
Rab1b	A	T	19: 5,154,684 (GRCm39)	Y88*	probably null	Het
Reln	T	A	5: 22,104,027 (GRCm39)	I3315L	probably benign	Het
Rmdn2	A	T	17: 79,966,880 (GRCm39)	M257L	probably benign	Het
Rnd1	A	T	15: 98,574,435 (GRCm39)	F47L	probably damaging	Het
Rnf41	G	A	10: 128,274,076 (GRCm39)	V243I	probably benign	Het
Rnf43	C	G	11: 87,620,339 (GRCm39)	S226R	probably damaging	Het
Scn5a	A	T	9: 119,362,993 (GRCm39)	D542E	probably damaging	Het
Sema5b	A	T	16: 35,448,466 (GRCm39)	I81F	probably benign	Het
Serinc5	G	A	13: 92,819,285 (GRCm39)	C73Y	probably damaging	Het
Serpina3g	A	T	12: 104,205,551 (GRCm39)	N97Y	possibly damaging	Het
Shq1	A	G	6: 100,614,033 (GRCm39)	S262P	probably damaging	Het
Smad4	A	T	18: 73,781,978 (GRCm39)	I428N	probably damaging	Het
Snip1	G	T	4: 124,966,613 (GRCm39)	G348W	probably damaging	Het
Spg11	A	G	2: 121,901,422 (GRCm39)	L1506P	probably damaging	Het
Stard9	G	A	2: 120,526,694 (GRCm39)	V984I	possibly damaging	Het
Svopl	A	T	6: 38,006,635 (GRCm39)	F121I	possibly damaging	Het
Tjp1	A	T	7: 64,972,802 (GRCm39)	V546E	probably damaging	Het
Tmem116	T	A	5: 121,631,819 (GRCm39)	F110L	probably damaging	Het
Ttyh2	C	T	11: 114,601,714 (GRCm39)	T446M	probably benign	Het
Tubb1	A	T	2: 174,299,532 (GRCm39)	I405L	probably benign	Het
Uba5	A	T	9: 103,933,025 (GRCm39)	F155L	possibly damaging	Het
Ubd	C	T	17: 37,506,212 (GRCm39)	H33Y	probably damaging	Het
Ube3d	A	T	9: 86,322,648 (GRCm39)	D175E	probably benign	Het
Usp24	A	G	4: 106,278,157 (GRCm39)	Q2293R	probably benign	Het
Vmn1r175	T	A	7: 23,507,937 (GRCm39)	H230L	probably benign	Het
Vmn1r88	A	G	7: 12,912,060 (GRCm39)	I139V	probably benign	Het
Vmn2r1	T	C	3: 63,994,046 (GRCm39)	F131L	probably benign	Het
Yipf3	T	C	17: 46,562,155 (GRCm39)		probably null	Het
Zdhhc19	A	G	16: 32,325,258 (GRCm39)	K192R	probably benign	Het
Zfy1	G	A	Y: 725,611 (GRCm39)	T718I	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
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

Posted On

2014-01-15