Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02504:Krt4'

296222

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krt4

Ensembl Gene

ENSMUSG00000059668

Gene Name

keratin 4

Synonyms

Krt-2.4, K4, Krt2-4

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

IGL02504

Quality Score

Status

Chromosome

Chromosomal Location

101826970-101833170 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101827727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 469 (I469F)

Ref Sequence

ENSEMBL: ENSMUSP00000023797 (fasta)

Gene Model

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

AlphaFold

P07744

Predicted Effect

unknown
Transcript: ENSMUST00000023797
AA Change: I469F

SMART Domains

Protein: ENSMUSP00000023797
Gene: ENSMUSG00000059668
AA Change: I469F

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

Coding Region Coverage

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 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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago4	T	A	4: 126,411,232 (GRCm39)	N142I	probably benign	Het
Asf1b	A	G	8: 84,682,458 (GRCm39)	M1V	probably null	Het
Astn1	T	C	1: 158,329,978 (GRCm39)	C278R	probably damaging	Het
Ccdc162	A	T	10: 41,428,384 (GRCm39)	L692Q	probably damaging	Het
Cd207	T	A	6: 83,654,788 (GRCm39)		probably benign	Het
Chd5	T	A	4: 152,447,779 (GRCm39)	N548K	probably damaging	Het
Col7a1	G	A	9: 108,809,743 (GRCm39)	G2659D	unknown	Het
Cpa6	A	T	1: 10,559,144 (GRCm39)	Y75N	probably benign	Het
Cspg4	G	T	9: 56,793,056 (GRCm39)	V264L	probably benign	Het
Cyp3a25	T	A	5: 145,930,141 (GRCm39)	I155L	probably benign	Het
Dock6	A	G	9: 21,757,951 (GRCm39)	I51T	probably benign	Het
Dse	G	T	10: 34,028,796 (GRCm39)	Q765K	probably benign	Het
Fam219b	A	T	9: 57,445,351 (GRCm39)	M87L	probably benign	Het
Fat3	G	A	9: 15,871,094 (GRCm39)	R3766C	probably damaging	Het
Fcnb	A	C	2: 27,966,606 (GRCm39)	M309R	probably damaging	Het
Fnbp4	C	A	2: 90,598,887 (GRCm39)	N670K	probably damaging	Het
Fsip2	T	A	2: 82,809,199 (GRCm39)	N1839K	possibly damaging	Het
G6pc2	A	G	2: 69,056,939 (GRCm39)	H195R	probably damaging	Het
Gm14179	A	T	11: 99,634,003 (GRCm39)			Het
Grm5	A	G	7: 87,779,980 (GRCm39)	N1172S	probably benign	Het
Hsd17b14	A	G	7: 45,205,799 (GRCm39)	T64A	possibly damaging	Het
Hspb7	G	T	4: 141,149,131 (GRCm39)	E12D	probably benign	Het
Kdm2a	T	C	19: 4,406,799 (GRCm39)	N155D	possibly damaging	Het
Klhl24	A	T	16: 19,934,693 (GRCm39)	R389*	probably null	Het
Kmt2b	A	G	7: 30,285,968 (GRCm39)		probably benign	Het
Mto1	A	T	9: 78,368,209 (GRCm39)	D451V	probably damaging	Het
Muc5b	A	T	7: 141,400,177 (GRCm39)	D477V	unknown	Het
Pcsk5	A	G	19: 17,455,236 (GRCm39)		probably null	Het
Ppil4	T	A	10: 7,696,748 (GRCm39)	Y420*	probably null	Het
Ppp2r5d	A	T	17: 47,011,019 (GRCm39)	D27E	probably benign	Het
Prkd2	T	C	7: 16,591,757 (GRCm39)	L596P	probably damaging	Het
Prr30	T	C	14: 101,436,056 (GRCm39)	I169V	probably benign	Het
Rtl9	A	T	X: 141,885,287 (GRCm39)	T900S	probably benign	Het
Sash1	A	G	10: 8,605,676 (GRCm39)	S905P	probably benign	Het
Scn2a	G	A	2: 65,514,228 (GRCm39)	G304D	probably benign	Het
Scp2d1	T	C	2: 144,665,877 (GRCm39)	L72P	probably damaging	Het
Septin2	T	A	1: 93,428,203 (GRCm39)	H166Q	probably benign	Het
Sgcb	A	G	5: 73,801,718 (GRCm39)	I49T	probably damaging	Het
Smyd4	T	A	11: 75,281,507 (GRCm39)	W327R	probably damaging	Het
Sptbn1	C	T	11: 30,092,293 (GRCm39)	E491K	probably damaging	Het
Tcaf1	A	T	6: 42,656,213 (GRCm39)	H254Q	probably benign	Het
Tll1	A	C	8: 64,523,271 (GRCm39)	D480E	possibly damaging	Het
Tlr3	G	A	8: 45,850,944 (GRCm39)	T127M	probably damaging	Het
Trio	A	T	15: 27,847,476 (GRCm39)	C929*	probably null	Het
Ttn	C	T	2: 76,628,494 (GRCm39)	W12809*	probably null	Het
Ugt2b35	T	A	5: 87,149,400 (GRCm39)	M217K	possibly damaging	Het
Unc13b	T	C	4: 43,263,031 (GRCm39)	V4261A	probably damaging	Het
Uqcrc2	T	C	7: 120,242,254 (GRCm39)	I82T	probably benign	Het
Usp21	A	G	1: 171,112,596 (GRCm39)	I266T	probably benign	Het
Veph1	A	T	3: 66,079,551 (GRCm39)	H321Q	probably damaging	Het
Vmn1r29	A	C	6: 58,284,655 (GRCm39)	Y125S	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
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
R3944: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

Posted On

2015-04-16