Mutagenetix > Incidental Mutation

Incidental Mutation 'R2067:Krt4'

226794

Institutional Source

Beutler Lab

Gene Symbol

Krt4

Ensembl Gene

ENSMUSG00000059668

Gene Name

keratin 4

Synonyms

Krt-2.4, K4, Krt2-4

MMRRC Submission

040072-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.316) question?

Stock #

R2067 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101918535-101924735 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 101924664 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 3 (A3S)

Ref Sequence

ENSEMBL: ENSMUSP00000023797 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023797] [ENSMUST00000023799]

AlphaFold

P07744

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023797
AA Change: A3S

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000023797
Gene: ENSMUSG00000059668
AA Change: A3S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000023799

SMART Domains

Protein: ENSMUSP00000023799
Gene: ENSMUSG00000061397

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	15	98	6.6e-11	PFAM
Pfam:Keratin_2_head	73	135	1.2e-21	PFAM
Filament	138	452	7.12e-159	SMART
low complexity region	474	500	N/A	INTRINSIC
low complexity region	519	530	N/A	INTRINSIC

Meta Mutation Damage Score

0.0808

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (76/78)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	T	A	4: 122,689,322 (GRCm38)		probably benign	Het
Abca2	A	T	2: 25,437,505 (GRCm38)	I669F	possibly damaging	Het
Acin1	T	A	14: 54,665,254 (GRCm38)	Q360H	probably damaging	Het
Aldh3b1	T	A	19: 3,921,755 (GRCm38)	D72V	probably benign	Het
Alox12e	G	A	11: 70,316,002 (GRCm38)	R620W	probably damaging	Het
Alpl	T	C	4: 137,749,545 (GRCm38)		probably benign	Het
Amy2a1	T	C	3: 113,530,568 (GRCm38)	I108V	probably benign	Het
Ascc2	A	T	11: 4,681,496 (GRCm38)	M646L	probably benign	Het
Bod1l	G	A	5: 41,817,086 (GRCm38)	T2295M	probably benign	Het
Ccdc9	A	T	7: 16,278,550 (GRCm38)		probably null	Het
Clptm1l	C	T	13: 73,607,723 (GRCm38)	Q153*	probably null	Het
Csmd1	A	G	8: 15,900,782 (GRCm38)	S3476P	probably benign	Het
Ddias	A	T	7: 92,859,699 (GRCm38)	M336K	possibly damaging	Het
Ehd1	T	C	19: 6,298,078 (GRCm38)	L362P	probably benign	Het
Epha1	G	T	6: 42,366,053 (GRCm38)	H187Q	probably benign	Het
Espl1	T	C	15: 102,299,090 (GRCm38)	S330P	probably damaging	Het
Fbln7	G	T	2: 128,877,466 (GRCm38)	R61L	probably damaging	Het
Fbxo41	C	T	6: 85,478,471 (GRCm38)	W577*	probably null	Het
Fgb	C	A	3: 83,049,689 (GRCm38)	D25Y	probably benign	Het
Gc	T	A	5: 89,446,517 (GRCm38)	K37N	probably damaging	Het
Gfpt1	T	C	6: 87,057,754 (GRCm38)	I178T	probably benign	Het
Gm12695	T	C	4: 96,769,726 (GRCm38)	T69A	probably benign	Het
Gm3944	C	A	12: 18,853,894 (GRCm38)	S8*	probably null	Het
Gm9912	T	C	3: 149,185,159 (GRCm38)	T113A	unknown	Het
Gpr156	A	G	16: 37,978,751 (GRCm38)	D109G	probably benign	Het
Hoxd1	A	T	2: 74,763,366 (GRCm38)	T89S	probably benign	Het
Htt	C	T	5: 34,825,982 (GRCm38)	T975I	probably benign	Het
Itpr3	G	A	17: 27,098,076 (GRCm38)	M768I	probably benign	Het
Mrto4	T	C	4: 139,349,023 (GRCm38)	K86E	probably benign	Het
Mup4	T	A	4: 59,960,622 (GRCm38)		probably benign	Het
Myh1	G	A	11: 67,214,620 (GRCm38)	D1079N	possibly damaging	Het
Myo1a	A	G	10: 127,705,478 (GRCm38)	N43D	probably benign	Het
Napa	A	T	7: 16,115,278 (GRCm38)		probably benign	Het
Ndufa12	A	G	10: 94,220,707 (GRCm38)	D99G	probably damaging	Het
Neb	A	G	2: 52,284,263 (GRCm38)	I1528T	probably benign	Het
Nek1	T	C	8: 61,007,162 (GRCm38)	S41P	probably damaging	Het
Nolc1	C	T	19: 46,083,607 (GRCm38)	T612M	probably damaging	Het
Nsun5	T	G	5: 135,375,072 (GRCm38)	Y301D	probably damaging	Het
Oas1g	T	C	5: 120,885,883 (GRCm38)	E121G	probably damaging	Het
Olfr1085	G	T	2: 86,658,437 (GRCm38)	T7K	probably damaging	Het
Olfr1170	A	G	2: 88,224,474 (GRCm38)	V186A	possibly damaging	Het
Olfr324	A	G	11: 58,597,570 (GRCm38)	N58S	probably damaging	Het
Olfr397	A	G	11: 73,964,914 (GRCm38)	Y102C	probably damaging	Het
Olfr522	T	A	7: 140,162,909 (GRCm38)	I14F	possibly damaging	Het
Olfr910	T	A	9: 38,539,280 (GRCm38)	N128K	probably benign	Het
Osmr	T	C	15: 6,815,415 (GRCm38)	N957D	probably benign	Het
Parn	G	A	16: 13,603,069 (GRCm38)	S473L	probably damaging	Het
Phc2	T	C	4: 128,747,136 (GRCm38)	F672S	probably damaging	Het
Pik3c2b	T	C	1: 133,099,611 (GRCm38)	S1283P	probably damaging	Het
Pole2	G	A	12: 69,228,152 (GRCm38)	R5W	probably benign	Het
Prl7a2	T	A	13: 27,660,887 (GRCm38)	Y172F	probably damaging	Het
Ptprz1	A	G	6: 23,050,389 (GRCm38)		probably benign	Het
Rapgef3	C	A	15: 97,766,961 (GRCm38)	G7V	probably damaging	Het
Ripor1	T	A	8: 105,617,708 (GRCm38)	S491R	probably benign	Het
Rnf141	A	G	7: 110,821,365 (GRCm38)		probably benign	Het
Ryr3	C	T	2: 112,946,957 (GRCm38)	R285Q	probably damaging	Het
Sall4	T	C	2: 168,756,545 (GRCm38)	N125S	probably benign	Het
Schip1	A	G	3: 68,617,786 (GRCm38)	K360R	probably damaging	Het
Senp6	T	A	9: 80,089,869 (GRCm38)	V55E	probably benign	Het
Skint1	T	A	4: 112,025,533 (GRCm38)	V258D	probably benign	Het
Slc25a16	T	A	10: 62,932,751 (GRCm38)	H130Q	probably benign	Het
Styx	T	C	14: 45,373,563 (GRCm38)	V217A	probably benign	Het
Syne2	G	A	12: 75,888,342 (GRCm38)		probably null	Het
Tagap1	A	G	17: 6,956,860 (GRCm38)	S146P	probably benign	Het
Tatdn2	A	G	6: 113,704,142 (GRCm38)	K379E	probably benign	Het
Thrap3	T	C	4: 126,175,396 (GRCm38)	Y654C	possibly damaging	Het
Tle2	T	C	10: 81,580,551 (GRCm38)	L135P	probably damaging	Het
Tmc1	A	G	19: 20,824,309 (GRCm38)	F451S	possibly damaging	Het
Trpm7	G	A	2: 126,797,727 (GRCm38)	P1650S	probably damaging	Het
Ttll4	G	A	1: 74,680,382 (GRCm38)	R16H	possibly damaging	Het
Ttn	T	C	2: 76,714,373 (GRCm38)	N32795S	probably damaging	Het
Tubgcp6	T	C	15: 89,104,489 (GRCm38)	E803G	probably benign	Het
Ubr2	A	G	17: 46,963,145 (GRCm38)		probably null	Het
Ugt2b35	A	G	5: 87,001,553 (GRCm38)	D221G	probably damaging	Het
Unc45b	G	A	11: 82,911,689 (GRCm38)	A4T	probably benign	Het
Vmn1r70	A	T	7: 10,634,337 (GRCm38)	I251F	possibly damaging	Het
Vmn2r120	T	A	17: 57,524,553 (GRCm38)	H412L	possibly damaging	Het
Zfp59	A	G	7: 27,853,510 (GRCm38)	N129S	probably benign	Het
Zgrf1	T	C	3: 127,613,350 (GRCm38)	C1589R	probably damaging	Het

Other mutations in Krt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01323:Krt4	APN	15	101,920,281 (GRCm38)	missense	probably damaging	1.00
IGL02306:Krt4	APN	15	101,921,305 (GRCm38)	missense	probably benign	0.13
IGL02407:Krt4	APN	15	101,921,305 (GRCm38)	missense	probably benign	0.13
IGL02504:Krt4	APN	15	101,919,292 (GRCm38)	missense	unknown
R0042:Krt4	UTSW	15	101,922,752 (GRCm38)	splice site	probably benign
R0042:Krt4	UTSW	15	101,922,752 (GRCm38)	splice site	probably benign
R0211:Krt4	UTSW	15	101,922,782 (GRCm38)	missense	possibly damaging	0.80
R0363:Krt4	UTSW	15	101,924,646 (GRCm38)	missense	possibly damaging	0.91
R2018:Krt4	UTSW	15	101,920,651 (GRCm38)	missense	probably damaging	1.00
R2571:Krt4	UTSW	15	101,921,257 (GRCm38)	missense	probably damaging	1.00
R3943:Krt4	UTSW	15	101,921,250 (GRCm38)	missense	probably benign	0.00
R3944:Krt4	UTSW	15	101,921,250 (GRCm38)	missense	probably benign	0.00
R5104:Krt4	UTSW	15	101,920,323 (GRCm38)	missense	probably damaging	1.00
R5107:Krt4	UTSW	15	101,922,791 (GRCm38)	missense	possibly damaging	0.89
R5579:Krt4	UTSW	15	101,921,234 (GRCm38)	missense	probably benign	0.01
R6052:Krt4	UTSW	15	101,922,759 (GRCm38)	critical splice donor site	probably null
R6429:Krt4	UTSW	15	101,922,794 (GRCm38)	missense	probably benign	0.00
R7371:Krt4	UTSW	15	101,920,388 (GRCm38)	missense	probably damaging	1.00
R8017:Krt4	UTSW	15	101,920,287 (GRCm38)	missense	probably damaging	0.99
R8019:Krt4	UTSW	15	101,920,287 (GRCm38)	missense	probably damaging	0.99
R8112:Krt4	UTSW	15	101,920,289 (GRCm38)	missense	probably damaging	1.00
R8175:Krt4	UTSW	15	101,920,549 (GRCm38)	critical splice donor site	probably null
R8824:Krt4	UTSW	15	101,920,642 (GRCm38)	missense
R9733:Krt4	UTSW	15	101,919,129 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CATGGAGATACTCTTGTGACCCC -3'
(R):5'- CTTAGTGACATGTTCAGCAGGTG -3'

Sequencing Primer
(F):5'- CCCCGAGGTTGTAAAGACTTCTG -3'
(R):5'- CATGTTCAGCAGGTGCAAGAG -3'

Posted On

2014-09-17