Mutagenetix > Incidental Mutation

Incidental Mutation 'R7296:Krt1'

571656

Institutional Source

Beutler Lab

Gene Symbol

Krt1

Ensembl Gene

ENSMUSG00000046834

Gene Name

keratin 1

Synonyms

Krt2-1, Krt-2.1

MMRRC Submission

045400-MU

Accession Numbers

Essential gene?

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

Stock #

R7296 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101753861-101759221 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101759064 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 33 (R33S)

Ref Sequence

ENSEMBL: ENSMUSP00000023790 (fasta)

Gene Model

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

AlphaFold

P04104

Predicted Effect

unknown
Transcript: ENSMUST00000023790
AA Change: R33S

SMART Domains

Protein: ENSMUSP00000023790
Gene: ENSMUSG00000046834
AA Change: R33S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (85/87)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	T	A	1: 57,422,302 (GRCm39)	M226K	probably benign	Het
4921524L21Rik	T	G	18: 6,626,385 (GRCm39)	S132R	probably damaging	Het
A4gnt	T	G	9: 99,502,335 (GRCm39)	I165S	probably damaging	Het
Abca14	G	A	7: 119,877,534 (GRCm39)	D1061N	probably benign	Het
Abcc9	G	A	6: 142,617,319 (GRCm39)	P582S	probably damaging	Het
Abhd5	G	A	9: 122,208,638 (GRCm39)	V343I	probably benign	Het
Adam6a	C	T	12: 113,509,192 (GRCm39)	R522C	probably damaging	Het
Ankle2	G	A	5: 110,385,590 (GRCm39)	R313H	probably damaging	Het
Aplf	G	A	6: 87,623,197 (GRCm39)	T315I	probably damaging	Het
Asic5	C	T	3: 81,928,383 (GRCm39)	P491S	probably benign	Het
Atp5f1b	T	C	10: 127,921,391 (GRCm39)	Y230H	probably benign	Het
B4galt6	A	T	18: 20,861,099 (GRCm39)	I51N	probably damaging	Het
Bmal2	G	A	6: 146,723,632 (GRCm39)	V321I	not run	Het
C4b	A	G	17: 34,962,633 (GRCm39)	L23S	probably damaging	Het
Cables2	A	G	2: 179,902,129 (GRCm39)	V410A		Het
Ccdc168	T	A	1: 44,100,076 (GRCm39)	K341*	probably null	Het
Cdyl	A	G	13: 36,047,378 (GRCm39)	M489V	probably damaging	Het
Clip4	T	C	17: 72,096,996 (GRCm39)	M40T	probably damaging	Het
Col12a1	T	C	9: 79,589,348 (GRCm39)	Y1069C	probably damaging	Het
Col6a3	T	C	1: 90,755,708 (GRCm39)	M194V	probably benign	Het
Colec11	T	A	12: 28,644,714 (GRCm39)	D260V	probably damaging	Het
Cracdl	T	C	1: 37,653,699 (GRCm39)	T1036A	possibly damaging	Het
Cux2	T	C	5: 121,999,319 (GRCm39)	D1207G	probably benign	Het
Cyp2d34	G	T	15: 82,501,436 (GRCm39)	N297K	possibly damaging	Het
Dmbt1	A	G	7: 130,713,861 (GRCm39)	Y1643C	unknown	Het
Dnmt3c	A	G	2: 153,556,946 (GRCm39)	T288A	probably benign	Het
Dock8	T	A	19: 25,162,245 (GRCm39)	F1842I	probably benign	Het
Dysf	A	G	6: 84,083,880 (GRCm39)	I740V	probably benign	Het
Epha6	T	A	16: 59,736,201 (GRCm39)	M778L	probably benign	Het
Eri2	A	T	7: 119,385,739 (GRCm39)	L254*	probably null	Het
Fam43b	A	G	4: 138,123,152 (GRCm39)	F56S	probably damaging	Het
Fat4	C	A	3: 38,943,294 (GRCm39)	S729*	probably null	Het
Fbxw22	C	A	9: 109,211,143 (GRCm39)	W386L	probably benign	Het
Fgd6	T	A	10: 93,879,909 (GRCm39)	C254*	probably null	Het
Fgd6	C	A	10: 93,975,743 (GRCm39)	T1386K	probably benign	Het
Fkbp7	G	T	2: 76,502,108 (GRCm39)	D98E	possibly damaging	Het
Hectd1	C	T	12: 51,832,635 (GRCm39)	C913Y	possibly damaging	Het
Hgf	T	A	5: 16,769,841 (GRCm39)	M105K	probably benign	Het
Icam1	A	C	9: 20,930,311 (GRCm39)	D55A	probably benign	Het
Itga2	A	C	13: 114,993,930 (GRCm39)		probably null	Het
Kcnj5	A	C	9: 32,234,045 (GRCm39)	L90R	probably damaging	Het
Klra17	T	A	6: 129,808,555 (GRCm39)	N226I	possibly damaging	Het
L3mbtl3	T	A	10: 26,158,728 (GRCm39)	D615V	unknown	Het
Lrp2	T	A	2: 69,312,725 (GRCm39)	Y2521F	probably benign	Het
Megf10	A	T	18: 57,408,825 (GRCm39)	N589I	probably damaging	Het
Metap1d	G	C	2: 71,337,129 (GRCm39)	G14A	probably benign	Het
Mfap5	T	A	6: 122,505,381 (GRCm39)	D162E	probably benign	Het
Mixl1	T	C	1: 180,524,523 (GRCm39)	I19V	probably benign	Het
Mtrr	G	T	13: 68,716,979 (GRCm39)	Y411*	probably null	Het
Myh7	T	C	14: 55,227,482 (GRCm39)	T318A	probably benign	Het
Nbeal1	T	A	1: 60,349,383 (GRCm39)	Y2348*	probably null	Het
Nhsl3	A	G	4: 129,119,211 (GRCm39)	Y170H	probably damaging	Het
Niban2	T	C	2: 32,812,654 (GRCm39)	S468P	possibly damaging	Het
Nlrc3	T	C	16: 3,781,454 (GRCm39)	S668G	probably damaging	Het
Nutm1	G	A	2: 112,080,401 (GRCm39)	R505C	probably damaging	Het
Or10ag59	T	A	2: 87,406,052 (GRCm39)	V208E	probably damaging	Het
Or12j2	A	T	7: 139,916,654 (GRCm39)	D293V	possibly damaging	Het
Or4c117	C	A	2: 88,955,180 (GRCm39)	R298S	probably benign	Het
Pcna	A	G	2: 132,094,797 (GRCm39)	S54P	probably benign	Het
Pde6a	A	G	18: 61,391,364 (GRCm39)	T570A	probably damaging	Het
Phf21b	A	T	15: 84,739,918 (GRCm39)	M1K	probably null	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Prob1	A	G	18: 35,786,352 (GRCm39)	F634S	possibly damaging	Het
Prss50	A	G	9: 110,690,357 (GRCm39)	T167A	probably damaging	Het
Ptpn1	T	C	2: 167,816,692 (GRCm39)	V249A	probably damaging	Het
Rai1	G	A	11: 60,079,499 (GRCm39)	V1188I	probably benign	Het
Ric1	G	A	19: 29,561,978 (GRCm39)		probably null	Het
Robo1	C	T	16: 72,786,519 (GRCm39)	Q844*	probably null	Het
Rpn1	A	G	6: 88,061,619 (GRCm39)	D36G	possibly damaging	Het
Serpinb1b	A	T	13: 33,277,810 (GRCm39)	M348L	probably benign	Het
Setd4	T	C	16: 93,380,830 (GRCm39)		probably null	Het
Setd5	T	G	6: 113,124,518 (GRCm39)	S1124A	probably benign	Het
Slc35c1	C	A	2: 92,289,084 (GRCm39)	V154F	probably damaging	Het
Slc7a6os	G	T	8: 106,937,121 (GRCm39)	S113*	probably null	Het
Syne2	T	A	12: 76,149,810 (GRCm39)	D1787E	probably benign	Het
Tas2r144	A	C	6: 42,192,373 (GRCm39)	I38L	probably damaging	Het
Tepsin	G	T	11: 119,982,534 (GRCm39)	T512K	possibly damaging	Het
Utp20	A	G	10: 88,606,586 (GRCm39)	V1662A	probably benign	Het
Vmn1r201	C	T	13: 22,659,509 (GRCm39)	A241V	possibly damaging	Het
Vmn2r60	T	A	7: 41,785,826 (GRCm39)	S210T	probably benign	Het
Wdr6	G	T	9: 108,451,784 (GRCm39)	H700N	probably damaging	Het
Zdhhc8	T	C	16: 18,052,790 (GRCm39)	T29A	probably benign	Het
Zfp335	A	G	2: 164,742,052 (GRCm39)	I614T	probably damaging	Het
Zfp54	T	A	17: 21,653,844 (GRCm39)	S113T	probably benign	Het
Zfp873	T	A	10: 81,897,071 (GRCm39)	C601S	probably damaging	Het
Zfyve26	T	C	12: 79,325,146 (GRCm39)		probably null	Het
Zmynd8	T	C	2: 165,681,929 (GRCm39)	T201A	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
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
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'- GATGGTCACTTCCTGGATGC -3'
(R):5'- TATATAAGGGCACGGCACTGGG -3'

Sequencing Primer
(F):5'- ATGCCACCAGGGGGACAG -3'
(R):5'- GCTCAAGGCAGAGGAGTTCTC -3'

Posted On

2019-09-13