Mutagenetix > Incidental Mutation

Incidental Mutation 'R5107:Krt4'

393626

Institutional Source

Beutler Lab

Gene Symbol

Krt4

Ensembl Gene

ENSMUSG00000059668

Gene Name

keratin 4

Synonyms

Krt-2.4, K4, Krt2-4

MMRRC Submission

042695-MU

Accession Numbers

Essential gene?

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

Stock #

R5107 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101826970-101833170 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101831226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 225 (M225K)

Ref Sequence

ENSEMBL: ENSMUSP00000023797 (fasta)

Gene Model

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

AlphaFold

P07744

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023797
AA Change: M225K

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023797
Gene: ENSMUSG00000059668
AA Change: M225K

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

0.1211

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

Validation Efficiency

98% (56/57)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	C	13: 61,001,472 (GRCm39)	N85S	possibly damaging	Het
Adgre1	A	G	17: 57,708,977 (GRCm39)	Y56C	possibly damaging	Het
Agbl5	C	A	5: 31,049,822 (GRCm39)	P257Q	probably damaging	Het
Angptl2	A	T	2: 33,118,615 (GRCm39)	M130L	probably damaging	Het
Atp6v1f	T	A	6: 29,468,198 (GRCm39)		probably null	Het
Ccdc78	G	A	17: 26,006,454 (GRCm39)	V133M	possibly damaging	Het
Clpx	A	G	9: 65,215,821 (GRCm39)	K145E	possibly damaging	Het
Col18a1	T	C	10: 76,913,057 (GRCm39)		probably null	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Igkv4-54	T	C	6: 69,608,914 (GRCm39)	I24V	possibly damaging	Het
Ikzf3	A	G	11: 98,381,302 (GRCm39)	Y93H	probably damaging	Het
Isl2	T	C	9: 55,449,570 (GRCm39)	V82A	probably benign	Het
Kcnq2	A	T	2: 180,750,340 (GRCm39)		probably benign	Het
Ksr2	T	C	5: 117,827,673 (GRCm39)	V484A	probably benign	Het
Lrba	T	A	3: 86,267,086 (GRCm39)	V1592E	possibly damaging	Het
Lrrc7	G	A	3: 157,867,533 (GRCm39)	P736L	probably damaging	Het
Mettl8	A	T	2: 70,795,901 (GRCm39)	F376I	probably damaging	Het
Muc5b	T	A	7: 141,409,268 (GRCm39)	H1117Q	unknown	Het
Myh7	T	A	14: 55,223,881 (GRCm39)		probably benign	Het
Myod1	G	T	7: 46,027,218 (GRCm39)	A228S	probably benign	Het
Ntrk1	T	C	3: 87,702,280 (GRCm39)	T58A	probably benign	Het
Or12d17	A	G	17: 37,777,144 (GRCm39)	T16A	probably damaging	Het
Pdcd11	T	A	19: 47,094,893 (GRCm39)	V559E	probably damaging	Het
Pde10a	A	G	17: 9,163,802 (GRCm39)	N191S	probably damaging	Het
Phf3	A	G	1: 30,870,566 (GRCm39)	S161P	probably benign	Het
Pias1	C	A	9: 62,789,510 (GRCm39)	A566S	probably benign	Het
Pik3c2g	T	C	6: 139,612,623 (GRCm39)		probably benign	Het
Pmp22	A	G	11: 63,049,237 (GRCm39)	E160G	probably damaging	Het
Polb	T	C	8: 23,135,062 (GRCm39)		probably null	Het
Prob1	T	C	18: 35,785,989 (GRCm39)	N755S	possibly damaging	Het
Rhou	A	T	8: 124,387,912 (GRCm39)	K215*	probably null	Het
Scaper	A	G	9: 55,487,616 (GRCm39)	S749P	probably damaging	Het
Selenop	A	G	15: 3,305,075 (GRCm39)	E77G	probably damaging	Het
Sema3a	C	A	5: 13,627,572 (GRCm39)	S490*	probably null	Het
Slc26a2	A	G	18: 61,331,632 (GRCm39)	Y600H	probably damaging	Het
Slfn8	A	C	11: 82,907,976 (GRCm39)	I189S	probably damaging	Het
Stab1	T	A	14: 30,885,752 (GRCm39)		probably null	Het
Tbc1d13	G	A	2: 30,036,733 (GRCm39)	E205K	probably damaging	Het
Tex47	C	T	5: 7,354,842 (GRCm39)	R8W	probably benign	Het
Tmem198b	T	C	10: 128,638,156 (GRCm39)	T136A	probably benign	Het
Trim36	T	C	18: 46,305,705 (GRCm39)	Q414R	probably benign	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Ttn	A	G	2: 76,608,496 (GRCm39)	I16063T	probably damaging	Het
Ttn	A	G	2: 76,693,905 (GRCm39)	V321A	possibly damaging	Het
Ubox5	A	G	2: 130,441,688 (GRCm39)	L333P	probably damaging	Het
Vmn2r19	T	A	6: 123,286,602 (GRCm39)	Y78*	probably null	Het
Wnk4	A	G	11: 101,166,364 (GRCm39)		probably benign	Het
Xirp2	A	G	2: 67,340,054 (GRCm39)	D765G	probably damaging	Het
Xirp2	G	T	2: 67,342,205 (GRCm39)	G1482V	probably damaging	Het
Znhit1	A	G	5: 137,015,682 (GRCm39)	V2A	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
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
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'- GGTTTCCAGCTACAAAAGTGTGG -3'
(R):5'- AGCATCTGGGTCTTACTAGGGAC -3'

Sequencing Primer
(F):5'- GCTATTGGAATATGGAAGCTGGC -3'
(R):5'- CAACATAGGTGCGATTCTTAGAGC -3'

Posted On

2016-06-15