Mutagenetix > Incidental Mutation

Incidental Mutation 'R3944:Krt4'

307621

Institutional Source

Beutler Lab

Gene Symbol

Krt4

Ensembl Gene

ENSMUSG00000059668

Gene Name

keratin 4

Synonyms

Krt-2.4, K4, Krt2-4

MMRRC Submission

040925-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.276) question?

Stock #

R3944 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101826970-101833170 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 101829685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 281 (T281M)

Ref Sequence

ENSEMBL: ENSMUSP00000023797 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023797]

AlphaFold

P07744

Predicted Effect

probably benign
Transcript: ENSMUST00000023797
AA Change: T281M

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000023797
Gene: ENSMUSG00000059668
AA Change: T281M

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	14	142	4.7e-37	PFAM
Filament	145	458	1.61e-166	SMART
low complexity region	465	511	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (61/61)

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 differentiated layers of the mucosal and esophageal epithelia with family member KRT13. Mutations in these genes have been associated with White Sponge Nevus, characterized by oral, esophageal, and anal leukoplakia. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display hyperplasia throughout the epithelium of the esophagus and tongue. Mice homozygous or heterozygous for a dominant mutation display oral leukoplakia and homozygotes display postnatal growth retardation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
6430548M08Rik	T	C	8: 120,879,241 (GRCm39)	L213P	probably damaging	Het
Akap12	A	G	10: 4,307,347 (GRCm39)	K1491E	probably benign	Het
Akr1c12	T	A	13: 4,329,339 (GRCm39)	H6L	probably benign	Het
Ankrd50	C	T	3: 38,506,645 (GRCm39)	C251Y	probably benign	Het
Bltp1	A	G	3: 37,084,210 (GRCm39)	I3876V	possibly damaging	Het
Bltp2	T	A	11: 78,160,350 (GRCm39)	L603*	probably null	Het
Calu	T	C	6: 29,361,710 (GRCm39)	S125P	possibly damaging	Het
Cdh10	A	G	15: 18,964,335 (GRCm39)	T166A	probably benign	Het
Clip1	T	C	5: 123,755,892 (GRCm39)		probably benign	Het
Cntn4	T	G	6: 106,595,375 (GRCm39)	N497K	probably benign	Het
Cspg4	T	A	9: 56,793,407 (GRCm39)	C381S	probably damaging	Het
Cyp1a2	T	C	9: 57,589,151 (GRCm39)	N221S	probably benign	Het
Dnaaf5	C	T	5: 139,138,679 (GRCm39)		probably benign	Het
Dnah7b	A	G	1: 46,176,645 (GRCm39)	D755G	probably damaging	Het
Dscam	A	T	16: 96,622,197 (GRCm39)	V418E	probably damaging	Het
Eefsec	T	A	6: 88,275,076 (GRCm39)	H296L	probably benign	Het
Elmo3	T	C	8: 106,035,852 (GRCm39)		probably null	Het
Gcm1	C	T	9: 77,967,098 (GRCm39)	Q106*	probably null	Het
Gnl1	G	T	17: 36,299,413 (GRCm39)	G528V	probably benign	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
H2-T23	A	G	17: 36,341,535 (GRCm39)	V312A	probably benign	Het
Hectd4	C	A	5: 121,441,588 (GRCm39)		probably benign	Het
Hoxa7	T	A	6: 52,193,606 (GRCm39)		probably benign	Het
Ifnlr1	T	A	4: 135,428,539 (GRCm39)	V122E	probably damaging	Het
Kcnt2	T	C	1: 140,512,025 (GRCm39)	M1036T	probably damaging	Het
Khdc1b	G	T	1: 21,455,030 (GRCm39)	K96N	probably damaging	Het
Kif19a	A	T	11: 114,677,561 (GRCm39)	Y578F	probably benign	Het
Lyl1	A	C	8: 85,430,631 (GRCm39)	T178P	probably damaging	Het
Marchf6	A	G	15: 31,488,960 (GRCm39)	V317A	probably benign	Het
Mmp1b	G	A	9: 7,384,708 (GRCm39)	T280I	possibly damaging	Het
Mpi	T	C	9: 57,452,536 (GRCm39)	D332G	probably damaging	Het
Naip6	T	C	13: 100,431,247 (GRCm39)	T1197A	probably benign	Het
Ntng2	G	A	2: 29,094,289 (GRCm39)	L361F	probably benign	Het
Obscn	A	T	11: 59,023,373 (GRCm39)	I668N	probably damaging	Het
Or52x1	A	T	7: 104,853,162 (GRCm39)	C129*	probably null	Het
Or8k40	A	G	2: 86,584,525 (GRCm39)	S186P	probably benign	Het
Pabpc1l	A	G	2: 163,884,247 (GRCm39)	E328G	probably damaging	Het
Pan3	A	T	5: 147,387,540 (GRCm39)	N170Y	probably damaging	Het
Prdm2	C	T	4: 142,858,385 (GRCm39)	R1635Q	possibly damaging	Het
Rassf6	G	T	5: 90,752,185 (GRCm39)	Q258K	possibly damaging	Het
Ribc2	A	G	15: 85,019,451 (GRCm39)	M78V	probably benign	Het
Rp9	A	C	9: 22,361,154 (GRCm39)	H44Q	probably damaging	Het
Skint5	T	A	4: 113,799,950 (GRCm39)	H73L	probably damaging	Het
Slc6a12	A	T	6: 121,331,239 (GRCm39)		probably null	Het
Smg6	G	A	11: 74,820,367 (GRCm39)	G213R	probably damaging	Het
Spout1	A	G	2: 30,064,148 (GRCm39)	V372A	probably benign	Het
Svep1	T	A	4: 58,084,807 (GRCm39)		probably null	Het
Tab1	T	C	15: 80,037,941 (GRCm39)	L258P	probably damaging	Het
Tbl3	A	G	17: 24,919,682 (GRCm39)	S791P	possibly damaging	Het
Tcof1	C	A	18: 60,955,909 (GRCm39)	D927Y	probably damaging	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Topaz1	T	C	9: 122,579,669 (GRCm39)	S860P	possibly damaging	Het
Vill	T	C	9: 118,897,499 (GRCm39)	I258T	probably benign	Het
Vmn1r204	G	A	13: 22,741,014 (GRCm39)	R215H	probably benign	Het
Vmn2r106	A	T	17: 20,487,913 (GRCm39)	F829I	probably damaging	Het
Vmn2r14	A	T	5: 109,363,930 (GRCm39)	I662N	probably damaging	Het
Vmn2r58	A	T	7: 41,513,885 (GRCm39)	F253I	probably benign	Het
Vps8	A	T	16: 21,288,873 (GRCm39)	N411Y	probably damaging	Het
Zfp932	T	A	5: 110,157,820 (GRCm39)	V506E	probably benign	Het

Other mutations in Krt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01323:Krt4	APN	15	101,828,716 (GRCm39)	missense	probably damaging	1.00
IGL02306:Krt4	APN	15	101,829,740 (GRCm39)	missense	probably benign	0.13
IGL02407:Krt4	APN	15	101,829,740 (GRCm39)	missense	probably benign	0.13
IGL02504:Krt4	APN	15	101,827,727 (GRCm39)	missense	unknown
R0042:Krt4	UTSW	15	101,831,187 (GRCm39)	splice site	probably benign
R0042:Krt4	UTSW	15	101,831,187 (GRCm39)	splice site	probably benign
R0211:Krt4	UTSW	15	101,831,217 (GRCm39)	missense	possibly damaging	0.80
R0363:Krt4	UTSW	15	101,833,081 (GRCm39)	missense	possibly damaging	0.91
R2018:Krt4	UTSW	15	101,829,086 (GRCm39)	missense	probably damaging	1.00
R2067:Krt4	UTSW	15	101,833,099 (GRCm39)	missense	possibly damaging	0.70
R2571:Krt4	UTSW	15	101,829,692 (GRCm39)	missense	probably damaging	1.00
R3943:Krt4	UTSW	15	101,829,685 (GRCm39)	missense	probably benign	0.00
R5104:Krt4	UTSW	15	101,828,758 (GRCm39)	missense	probably damaging	1.00
R5107:Krt4	UTSW	15	101,831,226 (GRCm39)	missense	possibly damaging	0.89
R5579:Krt4	UTSW	15	101,829,669 (GRCm39)	missense	probably benign	0.01
R6052:Krt4	UTSW	15	101,831,194 (GRCm39)	critical splice donor site	probably null
R6429:Krt4	UTSW	15	101,831,229 (GRCm39)	missense	probably benign	0.00
R7371:Krt4	UTSW	15	101,828,823 (GRCm39)	missense	probably damaging	1.00
R8017:Krt4	UTSW	15	101,828,722 (GRCm39)	missense	probably damaging	0.99
R8019:Krt4	UTSW	15	101,828,722 (GRCm39)	missense	probably damaging	0.99
R8112:Krt4	UTSW	15	101,828,724 (GRCm39)	missense	probably damaging	1.00
R8175:Krt4	UTSW	15	101,828,984 (GRCm39)	critical splice donor site	probably null
R8824:Krt4	UTSW	15	101,829,077 (GRCm39)	missense
R9733:Krt4	UTSW	15	101,827,564 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GAGAAACTCTCCACTGACTCTCTC -3'
(R):5'- CATAGCGATCTTGCACAGCC -3'

Sequencing Primer
(F):5'- ACTGACTCTCTCACTATACTCCAG -3'
(R):5'- CACAGCCTTTTAGAATGTGTAAGGG -3'

Posted On

2015-04-17