Mutagenetix > Incidental Mutation

Incidental Mutation 'R0363:Krt4'

30205

Institutional Source

Beutler Lab

Gene Symbol

Krt4

Ensembl Gene

ENSMUSG00000059668

Gene Name

keratin 4

Synonyms

Krt-2.4, K4, Krt2-4

MMRRC Submission

038569-MU

Accession Numbers

Essential gene?

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

Stock #

R0363 (G1)

Quality Score

213

Status

Validated

Chromosome

Chromosomal Location

101826970-101833170 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 101833081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 9 (R9C)

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: R9C

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023797
Gene: ENSMUSG00000059668
AA Change: R9C

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

0.1795

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 86.5%

Validation Efficiency

98% (78/80)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	T	A	4: 109,381,520 (GRCm39)	Q86L	probably null	Het
Abhd2	A	G	7: 79,000,561 (GRCm39)	D262G	possibly damaging	Het
Abhd5	T	C	9: 122,197,211 (GRCm39)	F133L	possibly damaging	Het
Agap2	T	A	10: 126,926,834 (GRCm39)	V957E	probably damaging	Het
Ankrd12	T	C	17: 66,292,676 (GRCm39)	K919R	probably damaging	Het
Ap1m1	T	C	8: 73,006,738 (GRCm39)	S245P	probably benign	Het
Ap1m1	T	C	8: 73,010,568 (GRCm39)		probably benign	Het
Apcdd1	A	G	18: 63,070,168 (GRCm39)	Y145C	possibly damaging	Het
Apob	A	T	12: 8,060,136 (GRCm39)	N2840Y	probably damaging	Het
Arel1	A	G	12: 84,981,027 (GRCm39)	S327P	probably damaging	Het
Arhgap21	C	A	2: 20,885,944 (GRCm39)	R421L	probably damaging	Het
Ccdc85a	A	T	11: 28,533,400 (GRCm39)	I48N	probably damaging	Het
Chd6	A	G	2: 160,856,244 (GRCm39)	S672P	probably damaging	Het
Ciz1	G	C	2: 32,267,375 (GRCm39)		probably null	Het
Cmbl	G	A	15: 31,585,588 (GRCm39)		probably null	Het
Cmya5	A	G	13: 93,231,377 (GRCm39)	V1237A	possibly damaging	Het
Cntnap4	A	T	8: 113,583,143 (GRCm39)	K1074*	probably null	Het
Cntnap5b	A	G	1: 100,202,193 (GRCm39)	M347V	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cuzd1	A	T	7: 130,917,991 (GRCm39)	M203K	probably benign	Het
Cyp3a16	T	C	5: 145,392,689 (GRCm39)		probably benign	Het
Dlgap3	A	G	4: 127,129,314 (GRCm39)	E892G	probably damaging	Het
Dnah7b	T	C	1: 46,275,948 (GRCm39)	S2612P	probably damaging	Het
Epas1	T	G	17: 87,113,276 (GRCm39)		probably benign	Het
Etv5	G	A	16: 22,230,458 (GRCm39)	A192V	probably benign	Het
Fa2h	T	A	8: 112,075,921 (GRCm39)	H234L	probably damaging	Het
Fcho1	T	C	8: 72,170,134 (GRCm39)	Y47C	probably damaging	Het
Flvcr1	T	A	1: 190,744,451 (GRCm39)		probably benign	Het
Il1rl1	CTTGTTGTTGTTGTTGTTG	CTTGTTGTTGTTGTTGTTGTTG	1: 40,481,734 (GRCm39)		probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Inpp4b	T	C	8: 82,610,886 (GRCm39)		probably benign	Het
Isy1	G	A	6: 87,796,167 (GRCm39)	R257W	probably damaging	Het
Kmt2a	A	G	9: 44,721,010 (GRCm39)		probably null	Het
Map1a	T	C	2: 121,132,525 (GRCm39)	S876P	probably damaging	Het
Mettl21e	A	G	1: 44,250,190 (GRCm39)		probably null	Het
Msh2	C	T	17: 88,024,904 (GRCm39)	T594M	probably benign	Het
Mtmr3	A	G	11: 4,437,536 (GRCm39)	S973P	probably damaging	Het
Muc5ac	A	T	7: 141,354,697 (GRCm39)	M889L	probably benign	Het
Ntn1	A	G	11: 68,276,369 (GRCm39)	I193T	probably benign	Het
Nudt13	A	T	14: 20,359,851 (GRCm39)	I193F	probably damaging	Het
Or2n1	A	G	17: 38,486,338 (GRCm39)	D121G	probably damaging	Het
Or3a1	C	T	11: 74,225,925 (GRCm39)	G44D	probably damaging	Het
Or4b1b	A	T	2: 90,112,200 (GRCm39)	S240T	probably damaging	Het
Or5p73	A	T	7: 108,064,941 (GRCm39)	T137S	possibly damaging	Het
Otulin	A	G	15: 27,606,381 (GRCm39)	V344A	probably damaging	Het
P2rx7	C	T	5: 122,795,093 (GRCm39)	Q128*	probably null	Het
Pcdhb22	G	A	18: 37,652,213 (GRCm39)	R227H	probably benign	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Pltp	C	T	2: 164,682,056 (GRCm39)	R394H	probably benign	Het
Ppip5k1	C	G	2: 121,177,836 (GRCm39)	A324P	probably damaging	Het
Pramel14	C	T	4: 143,718,221 (GRCm39)	M407I	probably benign	Het
Prdm13	A	C	4: 21,679,737 (GRCm39)	V251G	unknown	Het
Prkg1	T	C	19: 31,641,596 (GRCm39)	E29G	probably damaging	Het
Prrc2c	A	G	1: 162,525,380 (GRCm39)	S409P	unknown	Het
Rp1	T	A	1: 4,417,941 (GRCm39)	D1057V	probably damaging	Het
Rttn	G	A	18: 89,029,079 (GRCm39)	C599Y	probably damaging	Het
Shisa6	C	T	11: 66,416,153 (GRCm39)	R213Q	probably benign	Het
Slc3a1	T	C	17: 85,340,273 (GRCm39)	Y232H	probably damaging	Het
Slx4	G	A	16: 3,797,953 (GRCm39)	A1477V	probably damaging	Het
Ssrp1	T	G	2: 84,871,018 (GRCm39)	I218S	probably damaging	Het
St6galnac1	A	C	11: 116,659,756 (GRCm39)	S186A	probably benign	Het
Stab1	A	G	14: 30,880,965 (GRCm39)		probably benign	Het
Sycp2	T	C	2: 177,988,204 (GRCm39)		probably benign	Het
Syne2	T	A	12: 76,118,981 (GRCm39)	I5867N	probably damaging	Het
Taar7f	T	A	10: 23,925,839 (GRCm39)	D144E	probably damaging	Het
Tlcd5	A	T	9: 43,023,048 (GRCm39)	M84K	probably damaging	Het
Tmem87b	T	A	2: 128,673,153 (GRCm39)	S196T	probably damaging	Het
Tnfrsf21	A	G	17: 43,348,768 (GRCm39)	T127A	probably benign	Het
Trp73	A	G	4: 154,148,406 (GRCm39)	I336T	probably benign	Het
Ttl	A	G	2: 128,917,981 (GRCm39)	I148V	probably damaging	Het
Ttll7	T	C	3: 146,649,970 (GRCm39)	Y667H	probably benign	Het
Ubr4	A	G	4: 139,119,171 (GRCm39)	T152A	probably damaging	Het
Vmn1r58	A	T	7: 5,413,636 (GRCm39)	V198E	probably damaging	Het
Vps52	T	A	17: 34,181,091 (GRCm39)	F376L	probably benign	Het
Zfp1007	T	C	5: 109,824,754 (GRCm39)	E232G	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
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

Predicted Primers

PCR Primer
(F):5'- TTGAAGGAGCCTCCAAAGCCAC -3'
(R):5'- TTTATGCCCCTGCAACCAAGCC -3'

Sequencing Primer
(F):5'- GTATCCTCCAACGCCGAAG -3'
(R):5'- GCAACCAAGCCCTGCTG -3'

Posted On

2013-04-24