Mutagenetix > Incidental Mutation

Incidental Mutation 'R1598:Krt5'

175978

Institutional Source

Beutler Lab

Gene Symbol

Krt5

Ensembl Gene

ENSMUSG00000061527

Gene Name

keratin 5

Synonyms

Tfip8, Krt2-5, 3300001P10Rik, K5

MMRRC Submission

039635-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1598 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101615505-101621333 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101620876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 124 (A124T)

Ref Sequence

ENSEMBL: ENSMUSP00000023709 (fasta)

Gene Model

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

AlphaFold

Q922U2

Predicted Effect

probably benign
Transcript: ENSMUST00000023709
AA Change: A124T

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000023709
Gene: ENSMUSG00000061527
AA Change: A124T

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: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.9%

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 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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	G	A	11: 80,254,838 (GRCm39)	Q328*	probably null	Het
Aadacl4fm4	T	A	4: 144,396,994 (GRCm39)	K246I	possibly damaging	Het
Adamts1	G	A	16: 85,595,399 (GRCm39)	Q260*	probably null	Het
Add2	A	T	6: 86,075,628 (GRCm39)	Y259F	probably benign	Het
Bora	T	C	14: 99,305,840 (GRCm39)	V403A	probably benign	Het
Ccnl1	G	A	3: 65,854,191 (GRCm39)	R477W	probably damaging	Het
Cdc25a	CG	CGG	9: 109,708,961 (GRCm39)		probably null	Het
Cdr2l	T	C	11: 115,284,203 (GRCm39)	S180P	probably damaging	Het
Cep290	T	A	10: 100,385,191 (GRCm39)	L1889Q	probably damaging	Het
Ces4a	T	C	8: 105,869,453 (GRCm39)	V208A	probably damaging	Het
Col2a1	T	C	15: 97,877,131 (GRCm39)	D1049G	probably damaging	Het
Coro1a	A	T	7: 126,300,864 (GRCm39)	N154K	possibly damaging	Het
Cubn	T	A	2: 13,474,600 (GRCm39)	R401S	probably benign	Het
Cul7	A	T	17: 46,974,017 (GRCm39)	Q1434L	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dars1	G	T	1: 128,301,709 (GRCm39)	D308E	probably benign	Het
Dna2	T	A	10: 62,797,436 (GRCm39)	F604I	probably damaging	Het
Dnah1	T	G	14: 31,023,219 (GRCm39)	I1033L	probably benign	Het
Erlin1	T	C	19: 44,036,112 (GRCm39)	E206G	probably damaging	Het
Esrp2	T	A	8: 106,859,905 (GRCm39)	E345D	probably damaging	Het
Foxa1	T	C	12: 57,589,473 (GRCm39)	D249G	possibly damaging	Het
Ghsr	C	A	3: 27,426,426 (GRCm39)	L161M	probably benign	Het
Gm57858	C	T	3: 36,073,146 (GRCm39)	A379T	probably damaging	Het
Gpr155	C	A	2: 73,200,434 (GRCm39)	V358F	probably damaging	Het
H2-Eb2	A	T	17: 34,553,348 (GRCm39)	N178I	probably damaging	Het
Hydin	T	A	8: 111,137,306 (GRCm39)	I703N	possibly damaging	Het
Kctd15	A	G	7: 34,341,417 (GRCm39)	V170A	probably damaging	Het
Klhl31	A	T	9: 77,558,298 (GRCm39)	Y338F	possibly damaging	Het
Krt72	T	A	15: 101,688,688 (GRCm39)	I331F	probably benign	Het
Lrp1b	T	A	2: 41,401,490 (GRCm39)	D388V	probably damaging	Het
Ly9	A	G	1: 171,424,075 (GRCm39)	V382A	probably benign	Het
Mon2	T	C	10: 122,852,301 (GRCm39)	Y1024C	probably damaging	Het
Myh14	A	G	7: 44,287,818 (GRCm39)	F572L	probably damaging	Het
Myh3	A	T	11: 66,983,997 (GRCm39)	D987V	probably damaging	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Nphp4	A	G	4: 152,646,547 (GRCm39)	T1360A	probably benign	Het
Oog4	A	G	4: 143,164,571 (GRCm39)	L320P	probably damaging	Het
Or4k49	G	T	2: 111,495,099 (GRCm39)	S176I	probably damaging	Het
Or5m9	C	T	2: 85,877,657 (GRCm39)	T277I	probably damaging	Het
Or5w8	T	A	2: 87,688,095 (GRCm39)	I192K	probably benign	Het
Pcnx2	T	C	8: 126,498,825 (GRCm39)	N1558S	probably benign	Het
Pde10a	A	G	17: 9,147,976 (GRCm39)	E147G	probably damaging	Het
Pgbd5	T	A	8: 125,101,026 (GRCm39)	H410L	probably benign	Het
Plce1	A	C	19: 38,709,440 (GRCm39)	D1098A	probably damaging	Het
Psg25	G	A	7: 18,265,928 (GRCm39)	Q16*	probably null	Het
Psmd9	T	A	5: 123,379,980 (GRCm39)	V133E	probably damaging	Het
Rabgap1	C	T	2: 37,451,911 (GRCm39)	S937F	probably damaging	Het
Rbck1	A	G	2: 152,165,090 (GRCm39)		probably null	Het
Rprd2	C	G	3: 95,726,051 (GRCm39)		probably benign	Het
Rrs1	A	G	1: 9,616,137 (GRCm39)	N130S	probably benign	Het
Scmh1	A	T	4: 120,372,327 (GRCm39)	I377F	possibly damaging	Het
Skor1	G	T	9: 63,053,286 (GRCm39)	R228S	probably damaging	Het
Slc2a4	A	G	11: 69,835,844 (GRCm39)	V335A	probably benign	Het
Slc4a9	G	A	18: 36,661,424 (GRCm39)	W62*	probably null	Het
Styxl2	G	A	1: 165,937,828 (GRCm39)	T77I	probably benign	Het
Taar9	G	T	10: 23,985,305 (GRCm39)	A43D	possibly damaging	Het
Tns4	T	C	11: 98,961,243 (GRCm39)	Y645C	probably damaging	Het
Tpcn2	G	T	7: 144,830,957 (GRCm39)	Y129*	probably null	Het
Trpm3	T	C	19: 22,710,388 (GRCm39)	S278P	possibly damaging	Het
Ttc3	T	C	16: 94,223,156 (GRCm39)	W615R	probably damaging	Het
Ttll5	T	C	12: 85,910,372 (GRCm39)	V207A	probably damaging	Het
Ubr7	G	T	12: 102,736,153 (GRCm39)	M358I	probably damaging	Het
Urb1	C	A	16: 90,574,328 (GRCm39)	V918F	possibly damaging	Het
Vmn2r51	G	A	7: 9,839,432 (GRCm39)	T52I	probably benign	Het
Vmn2r95	A	T	17: 18,672,575 (GRCm39)	I771F	probably benign	Het
Wfdc16	T	C	2: 164,477,350 (GRCm39)	S107G	probably benign	Het
Zmym2	A	G	14: 57,140,226 (GRCm39)	T22A	possibly damaging	Het
Zmym2	G	A	14: 57,151,524 (GRCm39)	G470R	probably damaging	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
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
R6797:Krt5	UTSW	15	101,621,076 (GRCm39)	missense	unknown
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'- AGAGCTGAGACTGAAGCCTCTTCC -3'
(R):5'- AGTCCAGTGTGTCCTTCCGAAGTG -3'

Sequencing Primer
(F):5'- TGTAGACACACAGGCTGCTC -3'
(R):5'- AGCCGGAGCCTGTACAATG -3'

Posted On

2014-04-24