Mutagenetix > Incidental Mutation

Incidental Mutation 'R7645:Krt7'

590501

Institutional Source

Beutler Lab

Gene Symbol

Krt7

Ensembl Gene

ENSMUSG00000023039

Gene Name

keratin 7

Synonyms

K7, D15Wsu77e, Krt2-7, Cytokeratin 7

MMRRC Submission

045701-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7645 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101310284-101325687 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101310524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 57 (I57T)

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: I57T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000069900
Gene: ENSMUSG00000023039
AA Change: I57T

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: 99.7%
20x: 99.2%

Validation Efficiency

98% (46/47)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,392,789 (GRCm39)	C375S	probably benign	Het
Adgrg3	A	G	8: 95,761,392 (GRCm39)		probably benign	Het
Amn1	C	T	6: 149,086,529 (GRCm39)	M44I	probably benign	Het
Atg2b	T	C	12: 105,589,689 (GRCm39)	Y1854C	probably benign	Het
Bcat2	T	A	7: 45,237,387 (GRCm39)	N290K	probably benign	Het
Ccdc39	T	C	3: 33,879,318 (GRCm39)		probably null	Het
Cnot10	T	C	9: 114,442,705 (GRCm39)	S501G	probably benign	Het
Col6a6	A	G	9: 105,644,397 (GRCm39)		probably null	Het
Coq2	A	C	5: 100,808,116 (GRCm39)	C228W	probably damaging	Het
Cpt2	A	T	4: 107,764,171 (GRCm39)	M531K	possibly damaging	Het
Dennd1a	A	G	2: 37,911,375 (GRCm39)	L204P	probably damaging	Het
Dock9	C	T	14: 121,835,075 (GRCm39)	V1305M	probably benign	Het
Dusp16	A	G	6: 134,702,888 (GRCm39)	I201T	probably damaging	Het
Esco2	T	C	14: 66,064,630 (GRCm39)	D370G	probably benign	Het
Fbxl4	T	C	4: 22,377,037 (GRCm39)	S158P	probably damaging	Het
Fut10	A	G	8: 31,726,232 (GRCm39)	H329R	possibly damaging	Het
Gpr3	A	G	4: 132,938,640 (GRCm39)	W11R	probably damaging	Het
H2-M3	T	A	17: 37,581,620 (GRCm39)	I94N	probably damaging	Het
Ltc4s	T	C	11: 50,129,373 (GRCm39)		probably benign	Het
Ms4a6b	A	T	19: 11,501,304 (GRCm39)	T105S	probably damaging	Het
Muc6	T	C	7: 141,234,923 (GRCm39)	H592R	probably benign	Het
Ncam1	T	C	9: 49,476,303 (GRCm39)	E262G	probably benign	Het
Or4x11	T	A	2: 89,868,091 (GRCm39)	I276K	possibly damaging	Het
Or5b108	T	C	19: 13,168,937 (GRCm39)	V302A	probably benign	Het
Plxnb1	T	A	9: 108,943,480 (GRCm39)	S1908T	probably damaging	Het
Polg2	A	T	11: 106,666,419 (GRCm39)	M242K	probably benign	Het
Polr3g	T	C	13: 81,842,563 (GRCm39)	T151A	unknown	Het
Pramel51	T	C	12: 88,143,028 (GRCm39)	T392A	probably damaging	Het
Psmb8	T	C	17: 34,419,186 (GRCm39)	L160P	possibly damaging	Het
Rab5b	G	A	10: 128,517,260 (GRCm39)	A176V	possibly damaging	Het
Rreb1	T	C	13: 38,115,010 (GRCm39)	C790R	probably damaging	Het
Rufy3	A	G	5: 88,788,476 (GRCm39)	T506A	probably benign	Het
Samd11	T	C	4: 156,340,243 (GRCm39)		probably benign	Het
Slc12a2	T	C	18: 58,029,450 (GRCm39)	F279L	possibly damaging	Het
Slc49a4	T	A	16: 35,554,438 (GRCm39)		probably null	Het
Son	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,183 (GRCm39)		probably benign	Het
Srgn	C	T	10: 62,330,757 (GRCm39)	W116*	probably null	Het
Svil	A	G	18: 5,099,663 (GRCm39)	E1733G	probably damaging	Het
Tbc1d22a	C	T	15: 86,119,742 (GRCm39)	P49S	probably benign	Het
Tbc1d9	A	T	8: 83,969,182 (GRCm39)	K490M	probably damaging	Het
Tcte1	A	G	17: 45,845,915 (GRCm39)	N173S	probably benign	Het
Tmco6	C	T	18: 36,868,446 (GRCm39)	R31W	probably damaging	Het
Ttn	C	A	2: 76,730,025 (GRCm39)	A5155S	unknown	Het
Tyro3	T	C	2: 119,647,387 (GRCm39)	Y839H	probably damaging	Het
Zc3h12d	A	G	10: 7,743,340 (GRCm39)	D370G	probably benign	Het
Zc3h7b	T	C	15: 81,664,803 (GRCm39)	L554P	probably damaging	Het
Zfp352	C	T	4: 90,113,014 (GRCm39)	P385S	probably benign	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
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
R9473:Krt7	UTSW	15	101,318,409 (GRCm39)	missense	probably damaging	0.99
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'- CAGCCGCTATGTCCATCCAC -3'
(R):5'- CATTTGTTGGCAGAGCGGAG -3'

Sequencing Primer
(F):5'- GCTATGTCCATCCACTTCAGC -3'
(R):5'- GGAGAAGTACTATACAGAGCCCAC -3'

Posted On

2019-10-24