Mutagenetix > Incidental Mutation

Incidental Mutation 'R2045:Krt7'

221880

Institutional Source

Beutler Lab

Gene Symbol

Krt7

Ensembl Gene

ENSMUSG00000023039

Gene Name

keratin 7

Synonyms

K7, D15Wsu77e, Krt2-7, Cytokeratin 7

MMRRC Submission

040052-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2045 (G1)

Quality Score

186

Status

Validated

Chromosome

Chromosomal Location

101310284-101325687 bp(+) (GRCm39)

Type of Mutation

splice site (3977 bp from exon)

DNA Base Change (assembly)

A to T at 101321365 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117046 (fasta)

Gene Model

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

AlphaFold

Q9DCV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000068904
AA Change: E394V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069900
Gene: ENSMUSG00000023039
AA Change: E394V

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 null
Transcript: ENSMUST00000147662

SMART Domains

Protein: ENSMUSP00000117046
Gene: ENSMUSG00000023039

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183401

Meta Mutation Damage Score

0.9548

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.6%

Validation Efficiency

100% (74/74)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	C	T	19: 34,220,799 (GRCm39)	G303E	probably damaging	Het
Adamts1	A	T	16: 85,592,864 (GRCm39)	Y515N	probably damaging	Het
Ankef1	T	C	2: 136,396,658 (GRCm39)	V695A	probably benign	Het
Ankrd63	C	A	2: 118,533,834 (GRCm39)		probably benign	Het
Asah2	A	T	19: 32,030,356 (GRCm39)	N105K	probably benign	Het
Atf2	A	C	2: 73,693,552 (GRCm39)	D3E	probably damaging	Het
Atp5pb	T	C	3: 105,851,190 (GRCm39)		probably benign	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Bms1	A	C	6: 118,369,588 (GRCm39)	L960W	probably damaging	Het
Cacna1c	A	G	6: 118,633,098 (GRCm39)	V977A	probably damaging	Het
Cadps2	A	G	6: 23,839,121 (GRCm39)	S6P	possibly damaging	Het
Capn8	A	G	1: 182,440,951 (GRCm39)	T462A	probably benign	Het
Cd226	T	C	18: 89,225,486 (GRCm39)	S128P	probably benign	Het
Cd33	G	T	7: 43,179,316 (GRCm39)	H278N	probably benign	Het
Cdh1	T	C	8: 107,392,814 (GRCm39)		probably benign	Het
Cfap54	T	C	10: 92,874,671 (GRCm39)		probably null	Het
Chit1	A	G	1: 134,078,882 (GRCm39)	I397M	probably benign	Het
Cic	C	A	7: 24,970,961 (GRCm39)	Q231K	possibly damaging	Het
Clca4b	A	G	3: 144,630,924 (GRCm39)	V312A	probably damaging	Het
Cngb1	T	A	8: 96,023,713 (GRCm39)		probably null	Het
Cyfip2	T	C	11: 46,140,616 (GRCm39)	I430V	probably benign	Het
Dnah12	A	G	14: 26,503,485 (GRCm39)	E1613G	probably null	Het
Dock2	T	C	11: 34,244,106 (GRCm39)		probably null	Het
Dync2h1	A	T	9: 7,160,171 (GRCm39)	F646I	probably damaging	Het
Eef1b2	A	T	1: 63,218,646 (GRCm39)	K144*	probably null	Het
Erap1	T	C	13: 74,817,569 (GRCm39)	V137A	probably benign	Het
Far1	A	T	7: 113,138,478 (GRCm39)		probably null	Het
Fbn2	A	T	18: 58,223,730 (GRCm39)	C807S	probably damaging	Het
Fgfr1	A	G	8: 26,048,231 (GRCm39)	K209R	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Frem2	A	T	3: 53,443,165 (GRCm39)	V2533D	probably damaging	Het
Hip1r	T	C	5: 124,138,794 (GRCm39)	M839T	probably benign	Het
Igfbp2	A	G	1: 72,891,310 (GRCm39)	S303G	probably benign	Het
Insyn2a	T	G	7: 134,520,159 (GRCm39)	K124Q	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Itgb3	T	G	11: 104,514,239 (GRCm39)	S27A	probably benign	Het
Kif21b	G	A	1: 136,088,051 (GRCm39)	D1015N	probably damaging	Het
Krtdap	T	A	7: 30,490,010 (GRCm39)	F80L	probably benign	Het
Lcp1	A	T	14: 75,437,841 (GRCm39)	T84S	probably benign	Het
Lipi	G	A	16: 75,347,087 (GRCm39)	T444I	probably damaging	Het
Lrguk	A	T	6: 34,048,003 (GRCm39)	E316V	probably damaging	Het
Lypd1	G	A	1: 125,838,272 (GRCm39)		probably benign	Het
Med12l	A	T	3: 59,169,731 (GRCm39)	K1632*	probably null	Het
Mrgpra9	A	T	7: 46,885,583 (GRCm39)	M28K	probably benign	Het
Mylk	A	G	16: 34,774,023 (GRCm39)	K1291E	probably benign	Het
Nek4	T	A	14: 30,675,880 (GRCm39)	W72R	probably damaging	Het
Nudt8	T	C	19: 4,051,899 (GRCm39)	V170A	probably damaging	Het
Oosp3	T	A	19: 11,676,733 (GRCm39)	Y31N	probably benign	Het
Padi2	A	T	4: 140,665,241 (GRCm39)	R449W	probably damaging	Het
Pcf11	G	T	7: 92,311,087 (GRCm39)	N300K	probably damaging	Het
Pcsk5	T	C	19: 17,558,508 (GRCm39)	D633G	possibly damaging	Het
Phlpp2	T	A	8: 110,634,232 (GRCm39)	W271R	probably damaging	Het
Pikfyve	T	C	1: 65,292,512 (GRCm39)	V1276A	probably benign	Het
Pkhd1l1	A	T	15: 44,343,050 (GRCm39)	N176Y	probably damaging	Het
Pop5	T	G	5: 115,376,271 (GRCm39)	V33G	possibly damaging	Het
Prkag2	A	G	5: 25,152,580 (GRCm39)	F175L	possibly damaging	Het
Ptpn22	T	A	3: 103,781,337 (GRCm39)	D79E	possibly damaging	Het
Rab32	T	G	10: 10,426,577 (GRCm39)	D123A	probably damaging	Het
Rnpc3	T	C	3: 113,402,009 (GRCm39)	K513E	possibly damaging	Het
Senp1	A	T	15: 97,957,825 (GRCm39)	F358I	possibly damaging	Het
Sft2d2	A	G	1: 165,012,647 (GRCm39)	L83P	probably damaging	Het
Slc9c1	G	A	16: 45,400,613 (GRCm39)	R741H	probably damaging	Het
Smad4	A	T	18: 73,782,877 (GRCm39)	Y352*	probably null	Het
Tamm41	T	A	6: 114,993,056 (GRCm39)	Q232H	probably benign	Het
Tbx6	T	A	7: 126,382,055 (GRCm39)	L131Q	probably damaging	Het
Trappc10	T	C	10: 78,045,313 (GRCm39)		probably benign	Het
Trp53bp1	C	A	2: 121,034,964 (GRCm39)	A108S	probably benign	Het
Tut7	T	C	13: 59,948,470 (GRCm39)	Y215C	probably damaging	Het
Unc13b	G	A	4: 43,091,266 (GRCm39)	V31M	probably damaging	Het
Usp24	T	C	4: 106,258,177 (GRCm39)	M1525T	possibly damaging	Het
Vax2	G	A	6: 83,688,252 (GRCm39)		probably benign	Het
Vcan	T	A	13: 89,839,104 (GRCm39)	I2147L	probably benign	Het
Zbtb7a	C	A	10: 80,980,244 (GRCm39)	A146E	probably benign	Het
Zfp287	A	G	11: 62,618,395 (GRCm39)	L157P	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
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
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'- GCTGGCAATCAAGGATGCTC -3'
(R):5'- AGGACATTTTCTACAGGGCTAAGAAG -3'

Sequencing Primer
(F):5'- TCAAGGATGCTCATGCTAAGC -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'

Posted On

2014-08-25