Mutagenetix > Incidental Mutation

Incidental Mutation 'R6797:Krt5'

533073

Institutional Source

Beutler Lab

Gene Symbol

Krt5

Ensembl Gene

ENSMUSG00000061527

Gene Name

keratin 5

Synonyms

Tfip8, Krt2-5, 3300001P10Rik, K5

MMRRC Submission

044910-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6797 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101615505-101621333 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101621076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 57 (Y57C)

Ref Sequence

ENSEMBL: ENSMUSP00000023709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023709]

AlphaFold

Q922U2

Predicted Effect

unknown
Transcript: ENSMUST00000023709
AA Change: Y57C

SMART Domains

Protein: ENSMUSP00000023709
Gene: ENSMUSG00000061527
AA Change: Y57C

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	16	158	3.6e-44	PFAM
Filament	161	474	1.58e-174	SMART
low complexity region	483	577	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198689

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.8%

Validation Efficiency

100% (42/42)

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 the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. 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 die within the first hour after birth. They have a loose, fragile epidermal layer and abnormal epithelium in parts of the digestive tract. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c18	T	A	13: 4,195,276 (GRCm39)	I61L	probably benign	Het
Angptl2	T	C	2: 33,118,277 (GRCm39)	V17A	probably benign	Het
Casp14	T	C	10: 78,550,975 (GRCm39)	D70G	possibly damaging	Het
Cckbr	A	G	7: 105,083,773 (GRCm39)	M234V	possibly damaging	Het
Cd93	T	C	2: 148,284,044 (GRCm39)	N434S	probably benign	Het
Cenpe	A	T	3: 134,943,899 (GRCm39)	Q938L	possibly damaging	Het
Col6a3	A	C	1: 90,731,810 (GRCm39)	V1481G	probably damaging	Het
Dnah5	G	T	15: 28,233,384 (GRCm39)	E248*	probably null	Het
Dnah5	G	A	15: 28,451,609 (GRCm39)	R4349Q	probably damaging	Het
F11	A	G	8: 45,706,092 (GRCm39)	Y98H	probably benign	Het
Fen1	A	G	19: 10,178,067 (GRCm39)	F126L	probably benign	Het
Gpr146	G	A	5: 139,378,795 (GRCm39)	G199D	possibly damaging	Het
Gramd1b	A	G	9: 40,219,702 (GRCm39)	I324T	probably benign	Het
H2bc12	A	T	13: 22,220,259 (GRCm39)	N68I	probably benign	Het
Hivep1	C	A	13: 42,310,557 (GRCm39)	S932R	probably benign	Het
Hk3	A	T	13: 55,158,644 (GRCm39)		probably null	Het
Hspbp1	T	A	7: 4,663,781 (GRCm39)	M355L	possibly damaging	Het
Jaml	T	C	9: 45,000,058 (GRCm39)	C77R	probably damaging	Het
Kmt2e	A	G	5: 23,687,505 (GRCm39)	N452D	possibly damaging	Het
Lipn	A	T	19: 34,058,160 (GRCm39)	M294L	probably benign	Het
Magel2	A	G	7: 62,029,907 (GRCm39)	E937G	unknown	Het
Med13l	G	A	5: 118,897,329 (GRCm39)		probably null	Het
Mrgprb8	G	A	7: 48,038,892 (GRCm39)	V188I	probably benign	Het
Ocln	T	C	13: 100,676,223 (GRCm39)	D90G	probably damaging	Het
Ofcc1	C	T	13: 40,241,423 (GRCm39)	R695Q	possibly damaging	Het
Or11h23	T	A	14: 50,948,563 (GRCm39)	Y259N	probably damaging	Het
Or52ab7	G	A	7: 102,978,328 (GRCm39)	V212I	probably benign	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Pak5	A	T	2: 135,939,454 (GRCm39)	H560Q	probably damaging	Het
Pigg	T	C	5: 108,480,694 (GRCm39)	S493P	probably damaging	Het
Ppp6r3	A	G	19: 3,564,719 (GRCm39)	W185R	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Sacs	T	A	14: 61,450,522 (GRCm39)	D4189E	probably damaging	Het
Serpinb9b	A	G	13: 33,213,467 (GRCm39)	N8S	possibly damaging	Het
Slit3	A	G	11: 35,524,779 (GRCm39)	T730A	possibly damaging	Het
Srgap3	A	T	6: 112,806,503 (GRCm39)	F53I	probably damaging	Het
Stc2	T	A	11: 31,315,351 (GRCm39)	K163*	probably null	Het
Tasor2	T	C	13: 3,626,769 (GRCm39)	I1060M	probably benign	Het
Tlk1	T	A	2: 70,568,770 (GRCm39)	K411*	probably null	Het
Ttc27	G	T	17: 75,036,883 (GRCm39)	L185F	probably benign	Het
Vmn2r102	C	T	17: 19,880,694 (GRCm39)	Q12*	probably null	Het
Vmn2r95	C	T	17: 18,672,551 (GRCm39)		probably benign	Het
Vopp1	A	G	6: 57,739,492 (GRCm39)	Y19H	possibly damaging	Het
Wdr64	T	A	1: 175,638,176 (GRCm39)		probably null	Het

Other mutations in Krt5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00475:Krt5	APN	15	101,621,076 (GRCm39)	missense	unknown
IGL01949:Krt5	APN	15	101,619,048 (GRCm39)	missense	probably benign	0.14
IGL03013:Krt5	APN	15	101,620,103 (GRCm39)	missense	probably benign	0.00
IGL03286:Krt5	APN	15	101,615,983 (GRCm39)	missense	unknown
R1598:Krt5	UTSW	15	101,620,876 (GRCm39)	missense	probably benign	0.38
R1697:Krt5	UTSW	15	101,619,020 (GRCm39)	missense	probably benign	0.06
R1967:Krt5	UTSW	15	101,620,094 (GRCm39)	missense	probably benign	0.21
R2143:Krt5	UTSW	15	101,620,794 (GRCm39)	missense	probably damaging	1.00
R2438:Krt5	UTSW	15	101,620,093 (GRCm39)	missense	probably benign	0.10
R4633:Krt5	UTSW	15	101,620,042 (GRCm39)	missense	probably damaging	0.98
R4771:Krt5	UTSW	15	101,617,494 (GRCm39)	missense	probably damaging	0.99
R4918:Krt5	UTSW	15	101,618,742 (GRCm39)	missense	probably damaging	1.00
R5622:Krt5	UTSW	15	101,617,470 (GRCm39)	missense	probably damaging	1.00
R6873:Krt5	UTSW	15	101,621,312 (GRCm39)	start gained	probably benign
R7808:Krt5	UTSW	15	101,617,453 (GRCm39)	missense	probably benign	0.01
R8010:Krt5	UTSW	15	101,620,791 (GRCm39)	missense	probably damaging	1.00
R8252:Krt5	UTSW	15	101,620,794 (GRCm39)	missense	probably damaging	1.00
R8696:Krt5	UTSW	15	101,618,742 (GRCm39)	missense	probably damaging	1.00
R8889:Krt5	UTSW	15	101,619,185 (GRCm39)	missense	probably benign	0.01
R8892:Krt5	UTSW	15	101,619,185 (GRCm39)	missense	probably benign	0.01
R9468:Krt5	UTSW	15	101,615,980 (GRCm39)	missense	unknown
R9578:Krt5	UTSW	15	101,620,153 (GRCm39)	missense	probably damaging	0.98
R9696:Krt5	UTSW	15	101,616,141 (GRCm39)	missense	unknown
X0019:Krt5	UTSW	15	101,620,803 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TAACGGTGACCTCTTGGATGC -3'
(R):5'- AACCATCATGTCTCGCCAGTC -3'

Sequencing Primer
(F):5'- TGGATGCCTCCAGGTGG -3'
(R):5'- AGTCCAGTGTGTCCTTCCGAAG -3'

Posted On

2018-08-29