Mutagenetix > Incidental Mutation

Incidental Mutation 'R6270:Krt7'

507298

Institutional Source

Beutler Lab

Gene Symbol

Krt7

Ensembl Gene

ENSMUSG00000023039

Gene Name

keratin 7

Synonyms

K7, D15Wsu77e, Krt2-7, Cytokeratin 7

MMRRC Submission

044441-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6270 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101310284-101325687 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101317439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 244 (D244G)

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: D244G

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

SMART Domains

Protein: ENSMUSP00000069900
Gene: ENSMUSG00000023039
AA Change: D244G

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

noncoding transcript
Transcript: ENSMUST00000131069

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

Meta Mutation Damage Score

0.8609

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

98% (51/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	G	11: 54,242,933 (GRCm39)	E648G	probably benign	Het
Ak7	A	G	12: 105,734,960 (GRCm39)	H642R	probably benign	Het
Akap11	T	C	14: 78,756,239 (GRCm39)	E53G	probably damaging	Het
Ark2n	T	C	18: 77,762,117 (GRCm39)	D65G	probably damaging	Het
Ddr2	T	G	1: 169,816,109 (GRCm39)	T533P	probably benign	Het
Dhx40	A	G	11: 86,690,431 (GRCm39)	S197P	possibly damaging	Het
Dolpp1	C	A	2: 30,282,281 (GRCm39)		probably benign	Het
Eng	A	G	2: 32,563,655 (GRCm39)	D347G	probably benign	Het
Esrra	C	T	19: 6,891,488 (GRCm39)		probably null	Het
Fap	T	C	2: 62,378,132 (GRCm39)	I159V	probably damaging	Het
Fn1	C	T	1: 71,676,434 (GRCm39)	C599Y	probably damaging	Het
Fnbp4	T	C	2: 90,587,807 (GRCm39)	V395A	probably damaging	Het
Foxn3	T	C	12: 99,354,676 (GRCm39)	R163G	probably damaging	Het
Gphn	T	G	12: 78,569,724 (GRCm39)	L306R	probably benign	Het
Gse1	T	C	8: 121,295,902 (GRCm39)		probably benign	Het
Habp2	A	G	19: 56,295,295 (GRCm39)	D62G	possibly damaging	Het
Hdac7	AGGG	AGGGG	15: 97,706,376 (GRCm39)		probably null	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Kit	A	G	5: 75,770,169 (GRCm39)	T194A	probably benign	Het
Krt16	C	A	11: 100,138,029 (GRCm39)	A316S	possibly damaging	Het
Lhfpl3	T	A	5: 23,478,349 (GRCm39)	Y77*	probably null	Het
Lrrc18	A	T	14: 32,731,078 (GRCm39)	M206L	probably benign	Het
Magel2	C	A	7: 62,030,406 (GRCm39)	C1103*	probably null	Het
Mcf2l	T	C	8: 13,068,701 (GRCm39)	V1058A	probably damaging	Het
Nbas	G	A	12: 13,374,294 (GRCm39)	A541T	probably damaging	Het
Nrap	C	T	19: 56,308,630 (GRCm39)	M1485I	probably benign	Het
Nudt18	T	C	14: 70,816,830 (GRCm39)	Y145H	probably benign	Het
Or51b6b	T	C	7: 103,309,620 (GRCm39)	Y279C	possibly damaging	Het
Or51f1d	T	C	7: 102,700,538 (GRCm39)	L11P	probably benign	Het
Or5k8	A	T	16: 58,644,782 (GRCm39)	C97S	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdhb12	A	T	18: 37,569,838 (GRCm39)	Q328L	possibly damaging	Het
Pde6c	T	C	19: 38,146,884 (GRCm39)	W431R	probably damaging	Het
Pga5	T	C	19: 10,652,225 (GRCm39)	E139G	probably benign	Het
Pkdrej	G	T	15: 85,705,306 (GRCm39)	S210*	probably null	Het
Pnpla1	G	A	17: 29,100,342 (GRCm39)	G403E	probably benign	Het
Sema3d	A	T	5: 12,498,074 (GRCm39)	M27L	probably benign	Het
Serinc5	T	C	13: 92,825,170 (GRCm39)	S200P	probably damaging	Het
Sf3b3	T	C	8: 111,568,452 (GRCm39)	D174G	probably damaging	Het
Sult1b1	A	T	5: 87,665,413 (GRCm39)		probably null	Het
Tasor2	C	T	13: 3,631,891 (GRCm39)	R870H	possibly damaging	Het
Tcaf3	T	C	6: 42,570,725 (GRCm39)	I342M	probably benign	Het
Tenm3	G	A	8: 48,820,429 (GRCm39)	T136M	probably damaging	Het
Tet3	T	C	6: 83,352,773 (GRCm39)	T1008A	possibly damaging	Het
Tgif1	T	C	17: 71,151,861 (GRCm39)		probably null	Het
Trav15-2-dv6-2	A	G	14: 53,887,323 (GRCm39)	D81G	probably benign	Het
Trpv5	T	A	6: 41,651,293 (GRCm39)	H251L	possibly damaging	Het
Ttc14	C	A	3: 33,854,537 (GRCm39)	T37K	possibly damaging	Het
Vmn2r80	A	T	10: 79,030,159 (GRCm39)	I662L	probably benign	Het
Vmn2r81	A	G	10: 79,129,649 (GRCm39)	I847V	probably benign	Het
Zfp474	A	G	18: 52,771,436 (GRCm39)	T30A	probably benign	Het
Zswim4	C	T	8: 84,957,580 (GRCm39)	V163M	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
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
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'- ATATTGAGATGCTAGCAGCCAG -3'
(R):5'- TCCTGAAGGCTGGAGACAAG -3'

Sequencing Primer
(F):5'- ATGCTAGCAGCCAGGGTGG -3'
(R):5'- CTGGAGACAAGGTGAGGAGCAC -3'

Posted On

2018-03-15