Mutagenetix > Incidental Mutation

Incidental Mutation 'R2571:Krt4'

252596

Institutional Source

Beutler Lab

Gene Symbol

Krt4

Ensembl Gene

ENSMUSG00000059668

Gene Name

keratin 4

Synonyms

Krt-2.4, K4, Krt2-4

MMRRC Submission

040429-MU

Accession Numbers

Essential gene?

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

Stock #

R2571 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101826970-101833170 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101829692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 279 (N279Y)

Ref Sequence

ENSEMBL: ENSMUSP00000023797 (fasta)

Gene Model

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

AlphaFold

P07744

Predicted Effect

probably damaging
Transcript: ENSMUST00000023797
AA Change: N279Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023797
Gene: ENSMUSG00000059668
AA Change: N279Y

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,289,044 (GRCm39)	N2438S	probably benign	Het
Ago3	G	A	4: 126,257,604 (GRCm39)	R476W	probably damaging	Het
Akap8	T	C	17: 32,534,429 (GRCm39)	E339G	probably damaging	Het
Apba2	T	C	7: 64,395,498 (GRCm39)	V658A	probably damaging	Het
Bcl3	T	C	7: 19,543,452 (GRCm39)	D338G	probably damaging	Het
Bpnt2	C	T	4: 4,778,192 (GRCm39)		probably null	Het
Ccdc138	T	C	10: 58,349,044 (GRCm39)	Y197H	probably benign	Het
Ccdc162	T	A	10: 41,428,393 (GRCm39)	Q499L	probably damaging	Het
Ccser1	G	A	6: 61,399,944 (GRCm39)	C21Y	probably damaging	Het
Chil6	A	T	3: 106,297,709 (GRCm39)	Y229*	probably null	Het
Cntnap5a	C	T	1: 116,112,092 (GRCm39)	R461C	probably damaging	Het
Col19a1	T	A	1: 24,413,712 (GRCm39)	R407S	unknown	Het
Crlf3	A	T	11: 79,938,339 (GRCm39)	F433I	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Dnah10	A	T	5: 124,852,542 (GRCm39)	R1867W	probably damaging	Het
Dsg3	T	C	18: 20,673,062 (GRCm39)	V911A	probably benign	Het
Dzip3	T	C	16: 48,792,581 (GRCm39)		probably null	Het
Evpl	T	C	11: 116,128,795 (GRCm39)	Q10R	unknown	Het
Glra3	C	T	8: 56,563,516 (GRCm39)	A337V	probably benign	Het
H2-T5	C	T	17: 36,478,553 (GRCm39)	G132R	possibly damaging	Het
Hcfc2	T	C	10: 82,544,857 (GRCm39)	F163S	probably damaging	Het
Hells	T	C	19: 38,948,177 (GRCm39)	V701A	possibly damaging	Het
Helz	A	G	11: 107,504,778 (GRCm39)	T422A	probably benign	Het
Hhat	G	A	1: 192,235,330 (GRCm39)	T442I	probably damaging	Het
Hmces	A	T	6: 87,913,202 (GRCm39)	Q319L	possibly damaging	Het
Ighv1-62-1	T	A	12: 115,350,377 (GRCm39)	T97S	probably damaging	Het
Kcne2	C	T	16: 92,093,800 (GRCm39)	T109I	probably damaging	Het
Kcnq1	T	G	7: 142,661,433 (GRCm39)	L113R	probably benign	Het
Kdm5d	T	C	Y: 940,932 (GRCm39)	S1106P	probably benign	Het
Kel	C	A	6: 41,665,001 (GRCm39)	A588S	possibly damaging	Het
Kmt2e	T	A	5: 23,706,885 (GRCm39)	F1483I	probably benign	Het
Lama4	T	A	10: 38,918,671 (GRCm39)	M384K	possibly damaging	Het
Lepr	C	T	4: 101,625,369 (GRCm39)	T508I	possibly damaging	Het
Lypd10	A	G	7: 24,412,819 (GRCm39)	I76V	probably benign	Het
Map1lc3b	T	A	8: 122,320,213 (GRCm39)		probably null	Het
Me1	T	C	9: 86,536,751 (GRCm39)	H108R	probably damaging	Het
Mindy4	T	C	6: 55,261,770 (GRCm39)	S560P	probably damaging	Het
Mmp3	T	A	9: 7,451,844 (GRCm39)	I394N	possibly damaging	Het
Mmrn2	T	C	14: 34,124,896 (GRCm39)	S826P	probably damaging	Het
Or13n4	T	A	7: 106,422,933 (GRCm39)	M267L	probably benign	Het
Osbpl7	T	C	11: 96,945,667 (GRCm39)	L138P	probably damaging	Het
Pcdhga11	G	A	18: 37,889,921 (GRCm39)	E310K	probably damaging	Het
Pcif1	A	G	2: 164,726,131 (GRCm39)	D39G	probably damaging	Het
Ppp1r21	C	T	17: 88,852,810 (GRCm39)	T63I	probably benign	Het
Prickle2	T	C	6: 92,682,381 (GRCm39)	Q25R	probably benign	Het
Ptk2	A	G	15: 73,103,768 (GRCm39)	L94P	probably damaging	Het
Ptprg	T	C	14: 12,122,135 (GRCm38)	F333S	probably benign	Het
Rag2	T	A	2: 101,460,312 (GRCm39)	H207Q	probably damaging	Het
Rps6ka1	G	T	4: 133,587,923 (GRCm39)		probably null	Het
Rps6ka4	G	T	19: 6,815,471 (GRCm39)	H174Q	probably damaging	Het
Rreb1	C	A	13: 38,083,613 (GRCm39)	T92K	probably damaging	Het
Ryr1	A	T	7: 28,708,987 (GRCm39)	M4793K	unknown	Het
Ryr1	T	A	7: 28,735,551 (GRCm39)	M4076L	possibly damaging	Het
Sec16a	A	C	2: 26,329,343 (GRCm39)	S891A	probably benign	Het
Sgsh	A	G	11: 119,241,340 (GRCm39)	Y132H	probably damaging	Het
Sos2	T	A	12: 69,682,492 (GRCm39)	E242V	possibly damaging	Het
Spata31d1c	G	T	13: 65,184,198 (GRCm39)	R580L	probably damaging	Het
Spata9	C	A	13: 76,115,880 (GRCm39)		probably benign	Het
Tead2	T	A	7: 44,875,194 (GRCm39)	V202E	probably damaging	Het
Thada	T	C	17: 84,762,068 (GRCm39)	K168E	probably damaging	Het
Tmem64	T	C	4: 15,266,718 (GRCm39)	I256T	probably damaging	Het
Tra2a	G	T	6: 49,229,421 (GRCm39)		probably benign	Het
Trim30a	T	A	7: 104,078,533 (GRCm39)	N181I	possibly damaging	Het
Ttc13	A	C	8: 125,410,538 (GRCm39)	Y372D	probably damaging	Het
Vit	T	C	17: 78,894,174 (GRCm39)	V192A	probably benign	Het
Vmn2r69	T	C	7: 85,064,764 (GRCm39)	T41A	probably benign	Het
Vps13d	C	A	4: 144,875,706 (GRCm39)	K1600N	probably benign	Het
Xpnpep3	A	T	15: 81,335,127 (GRCm39)	H420L	probably damaging	Het
Zfp322a	A	G	13: 23,540,614 (GRCm39)	L376P	probably damaging	Het
Zfp619	T	C	7: 39,186,595 (GRCm39)	L875P	probably damaging	Het
Zic5	T	A	14: 122,696,890 (GRCm39)	Q575L	unknown	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
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

Predicted Primers

PCR Primer
(F):5'- CTGAGAAACTCTCCACTGACTCTC -3'
(R):5'- GCATAGCGATCTTGCACAGC -3'

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

Posted On

2014-12-04