Mutagenetix > Incidental Mutation

Incidental Mutation 'R9473:Krt7'

715596

Institutional Source

Beutler Lab

Gene Symbol

Krt7

Ensembl Gene

ENSMUSG00000023039

Gene Name

keratin 7

Synonyms

K7, D15Wsu77e, Krt2-7, Cytokeratin 7

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9473 (G1)

Quality Score

194.009

Status

Not validated

Chromosome

Chromosomal Location

101310284-101325687 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101318409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 299 (R299W)

Ref Sequence

ENSEMBL: ENSMUSP00000069900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068904] [ENSMUST00000147662]

AlphaFold

Q9DCV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000068904
AA Change: R299W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000069900
Gene: ENSMUSG00000023039
AA Change: R299W

Domain	Start	End	E-Value	Type
low complexity region	27	42	N/A	INTRINSIC
Pfam:Keratin_2_head	43	81	3.2e-12	PFAM
Filament	84	396	1.95e-174	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000147662

SMART Domains

Protein: ENSMUSP00000117046
Gene: ENSMUSG00000023039

Domain	Start	End	E-Value	Type
Pfam:Filament	1	115	4e-34	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.6%

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 simple epithelia lining the cavities of the internal organs and in the gland ducts and blood vessels. The genes encoding the type II cytokeratins are clustered in a region of chromosome 12q12-q13. Alternative splicing may result in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased cell proliferation of urothelial cells without histological evidence of hyperplasia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	C	T	5: 144,980,912 (GRCm39)	P107L	probably benign	Het
Abcc10	T	C	17: 46,617,609 (GRCm39)	N1142S	probably benign	Het
Accsl	T	C	2: 93,686,092 (GRCm39)	H575R	probably benign	Het
Adgra2	T	A	8: 27,610,943 (GRCm39)	L964Q	probably damaging	Het
Akap5	T	C	12: 76,376,632 (GRCm39)	L688P	probably damaging	Het
Anapc10	A	G	8: 80,501,673 (GRCm39)	N147S	probably damaging	Het
Atm	C	T	9: 53,410,272 (GRCm39)	E1059K	probably benign	Het
Bltp2	G	A	11: 78,174,983 (GRCm39)	R1706H	probably damaging	Het
Bmf	A	C	2: 118,363,104 (GRCm39)	F251V	probably benign	Het
Capn3	G	T	2: 120,326,535 (GRCm39)	E576*	probably null	Het
Capns2	T	C	8: 93,628,854 (GRCm39)	*248R	probably null	Het
Ceacam13	G	T	7: 17,747,281 (GRCm39)	V245L	probably benign	Het
Clcn3	T	C	8: 61,407,651 (GRCm39)	D2G	probably benign	Het
Dcstamp	G	A	15: 39,617,972 (GRCm39)	C127Y	probably damaging	Het
Dnmt3l	C	T	10: 77,886,022 (GRCm39)	Q36*	probably null	Het
Dpys	A	G	15: 39,687,583 (GRCm39)	I405T	possibly damaging	Het
Duoxa1	A	G	2: 122,134,326 (GRCm39)	I309T	probably benign	Het
Eif2b1	G	A	5: 124,712,677 (GRCm39)	Q156*	probably null	Het
Eif3l	T	A	15: 78,970,704 (GRCm39)	M326K	probably damaging	Het
Fbxl13	T	C	5: 21,790,243 (GRCm39)	N267D	possibly damaging	Het
Fip1l1	C	T	5: 74,745,719 (GRCm39)	T372I	probably damaging	Het
Galt	A	G	4: 41,757,575 (GRCm39)	N249S	probably benign	Het
Gm17324	G	T	9: 78,355,839 (GRCm39)	R47S	unknown	Het
Gm45871	T	G	18: 90,609,093 (GRCm39)	D110E	probably benign	Het
Gtf2ird1	T	A	5: 134,433,534 (GRCm39)	T298S	probably benign	Het
Ighv7-4	T	C	12: 114,186,722 (GRCm39)	I17V	probably benign	Het
Macc1	A	G	12: 119,297,990 (GRCm39)		probably benign	Het
Mturn	G	A	6: 54,666,009 (GRCm39)	E61K	probably benign	Het
Nol11	T	C	11: 107,075,581 (GRCm39)	D149G	probably null	Het
Nr4a3	A	T	4: 48,052,143 (GRCm39)	N299I	probably damaging	Het
Pip5k1b	A	T	19: 24,335,590 (GRCm39)	I351N	probably damaging	Het
Plce1	G	A	19: 38,766,337 (GRCm39)	E2121K	possibly damaging	Het
Pramel11	T	G	4: 143,620,815 (GRCm39)	T468P	probably benign	Het
Rdh19	A	G	10: 127,696,177 (GRCm39)	T310A	probably benign	Het
Rflnb	T	A	11: 75,913,064 (GRCm39)	Y108F	probably damaging	Het
Rfx1	A	T	8: 84,819,903 (GRCm39)	I713F	probably damaging	Het
Saxo5	G	A	8: 3,529,232 (GRCm39)	C239Y	probably benign	Het
Scgn	T	C	13: 24,143,731 (GRCm39)		probably null	Het
Serpina1d	T	C	12: 103,729,939 (GRCm39)	*414W	probably null	Het
Slc18a3	T	C	14: 32,185,913 (GRCm39)	I157V	probably benign	Het
Steap1	T	C	5: 5,790,378 (GRCm39)	Y190C	probably damaging	Het
Svep1	A	G	4: 58,064,243 (GRCm39)	S3247P	probably benign	Het
Syne1	T	C	10: 5,198,258 (GRCm39)	I3778V	probably benign	Het
Tas2r114	T	C	6: 131,666,104 (GRCm39)	D308G	probably benign	Het
Tpm2	A	T	4: 43,514,813 (GRCm39)	L274*	probably null	Het
Ttc39b	A	G	4: 83,181,977 (GRCm39)	F81L	possibly damaging	Het
Ttn	A	G	2: 76,547,338 (GRCm39)	V32236A	probably damaging	Het
Ubr5	A	G	15: 38,002,617 (GRCm39)	V1472A		Het
Ugt2b1	A	T	5: 87,065,539 (GRCm39)	V500D	possibly damaging	Het
Vpreb1b	G	A	16: 17,798,565 (GRCm39)	C17Y	probably benign	Het
Wscd1	A	G	11: 71,679,644 (GRCm39)	N506D	probably damaging	Het

Other mutations in Krt7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00657:Krt7	APN	15	101,324,966 (GRCm39)	unclassified	probably benign
IGL01025:Krt7	APN	15	101,321,302 (GRCm39)	missense	probably benign	0.17
IGL02229:Krt7	APN	15	101,325,497 (GRCm39)	missense	probably benign	0.09
IGL03366:Krt7	APN	15	101,325,491 (GRCm39)	missense	possibly damaging	0.87
R0256:Krt7	UTSW	15	101,321,190 (GRCm39)	nonsense	probably null
R1648:Krt7	UTSW	15	101,310,448 (GRCm39)	missense	probably damaging	1.00
R1696:Krt7	UTSW	15	101,321,307 (GRCm39)	missense	probably benign	0.01
R1779:Krt7	UTSW	15	101,321,290 (GRCm39)	missense	probably damaging	1.00
R1837:Krt7	UTSW	15	101,317,463 (GRCm39)	missense	probably benign	0.42
R2045:Krt7	UTSW	15	101,321,365 (GRCm39)	splice site	probably null
R2510:Krt7	UTSW	15	101,310,538 (GRCm39)	missense	probably benign	0.01
R2511:Krt7	UTSW	15	101,310,538 (GRCm39)	missense	probably benign	0.01
R4041:Krt7	UTSW	15	101,321,161 (GRCm39)	splice site	probably null
R4729:Krt7	UTSW	15	101,318,439 (GRCm39)	missense	probably benign	0.03
R4964:Krt7	UTSW	15	101,311,853 (GRCm39)	missense	probably damaging	1.00
R5032:Krt7	UTSW	15	101,310,428 (GRCm39)	missense	probably benign	0.00
R6023:Krt7	UTSW	15	101,310,278 (GRCm39)	intron	probably benign
R6270:Krt7	UTSW	15	101,317,439 (GRCm39)	missense	probably damaging	1.00
R7019:Krt7	UTSW	15	101,311,851 (GRCm39)	missense	probably damaging	1.00
R7645:Krt7	UTSW	15	101,310,524 (GRCm39)	missense	probably damaging	1.00
R7773:Krt7	UTSW	15	101,311,913 (GRCm39)	missense	possibly damaging	0.49
R7844:Krt7	UTSW	15	101,310,515 (GRCm39)	missense	possibly damaging	0.80
X0026:Krt7	UTSW	15	101,310,653 (GRCm39)	missense	probably damaging	0.98
Z1177:Krt7	UTSW	15	101,321,348 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGGAGAGGTCGTAGTGTCC -3'
(R):5'- TAAGGACCTGAGATGTGAGCTG -3'

Sequencing Primer
(F):5'- AGAGGTCGTAGTGTCCTGTAG -3'
(R):5'- TGAGCTGCACCCACCTG -3'

Posted On

2022-06-15