Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00978:Krt36'

28655

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krt36

Ensembl Gene

ENSMUSG00000020916

Gene Name

keratin 36

Synonyms

Krt1-22, keratin 5, HRa-1, Krt1-5

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL00978

Quality Score

Status

Chromosome

Chromosomal Location

100102007-100105626 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100102948 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 355 (I355V)

Ref Sequence

ENSEMBL: ENSMUSP00000103039 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107416]

Predicted Effect

probably damaging
Transcript: ENSMUST00000107416
AA Change: I355V

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103039
Gene: ENSMUSG00000020916
AA Change: I355V

Domain	Start	End	E-Value	Type
low complexity region	22	36	N/A	INTRINSIC
Filament	92	403	4.05e-163	SMART
low complexity region	425	443	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127883

Coding Region Coverage

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. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hyperkeratosis affecting the scales of the tail skin and the filiform papillae of the tongue. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009L18Rik	T	C	11: 120,350,947		probably benign	Het
Alpk2	A	T	18: 65,291,534		probably benign	Het
Angptl8	T	C	9: 21,837,053		probably benign	Het
AU040320	T	A	4: 126,828,839	D383E	probably benign	Het
Cep97	C	T	16: 55,924,960		probably benign	Het
Clcn4	A	T	7: 7,287,673	L649H	probably damaging	Het
Col5a2	T	C	1: 45,376,739	N1416S	probably benign	Het
Erbb2	C	T	11: 98,435,630	P1027S	probably damaging	Het
Eya1	A	G	1: 14,270,701		probably benign	Het
Gfm2	T	C	13: 97,162,977	I402T	probably benign	Het
Gmeb2	A	T	2: 181,259,043	V187E	probably benign	Het
Hectd1	T	C	12: 51,791,390	H662R	possibly damaging	Het
Ifne	T	C	4: 88,880,031	Q50R	probably benign	Het
Kidins220	A	G	12: 25,057,474	D1642G	probably damaging	Het
Klhl32	T	A	4: 24,682,245	D146V	probably damaging	Het
Lrrcc1	T	A	3: 14,536,128	S73R	possibly damaging	Het
Ltbp3	A	T	19: 5,754,019	H853L	probably benign	Het
Map3k5	G	A	10: 20,141,567	R1369Q	probably damaging	Het
Mcm8	A	G	2: 132,821,406	N148S	probably benign	Het
Mylk3	A	T	8: 85,355,526	L211*	probably null	Het
Nras	T	C	3: 103,058,916		probably benign	Het
Olfr135	A	T	17: 38,208,982	I246F	probably damaging	Het
Olfr670	A	T	7: 104,960,716	N5K	probably damaging	Het
Os9	A	T	10: 127,120,509	Y66N	probably damaging	Het
Pitpnm1	A	G	19: 4,101,228	D15G	possibly damaging	Het
Reg3a	A	T	6: 78,382,301	R95*	probably null	Het
Rnf17	C	T	14: 56,512,271	P1425S	probably damaging	Het
Smad2	T	C	18: 76,299,775		probably benign	Het
Ttll5	C	T	12: 85,933,482	Q76*	probably null	Het
Uri1	A	T	7: 37,996,731		probably benign	Het
Vmn2r102	G	T	17: 19,678,923		probably null	Het
Vmn2r70	T	G	7: 85,563,799	M467L	probably benign	Het
Zfp318	T	A	17: 46,413,726	D2218E	possibly damaging	Het
Zfp692	T	C	11: 58,314,029	I405T	possibly damaging	Het
Zfp692	A	G	11: 58,309,998	H235R	possibly damaging	Het

Other mutations in Krt36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01737:Krt36	APN	11	100104120	missense	possibly damaging	0.62
IGL02388:Krt36	APN	11	100105164	nonsense	probably null
IGL02985:Krt36	APN	11	100103179	missense	probably benign	0.32
R0393:Krt36	UTSW	11	100104114	missense	possibly damaging	0.91
R0617:Krt36	UTSW	11	100102275	missense	probably damaging	1.00
R0930:Krt36	UTSW	11	100103399	missense	probably damaging	1.00
R1166:Krt36	UTSW	11	100102828	missense	probably benign	0.00
R1201:Krt36	UTSW	11	100104057	missense	probably benign	0.22
R1587:Krt36	UTSW	11	100102302	missense	probably damaging	1.00
R1750:Krt36	UTSW	11	100104058	missense	probably benign	0.00
R1826:Krt36	UTSW	11	100103030	splice site	probably benign
R1846:Krt36	UTSW	11	100105548	missense	probably damaging	1.00
R2208:Krt36	UTSW	11	100102939	missense	probably damaging	0.96
R4303:Krt36	UTSW	11	100103413	missense	possibly damaging	0.59
R5140:Krt36	UTSW	11	100103502	missense	probably damaging	1.00
R5719:Krt36	UTSW	11	100104161	missense	possibly damaging	0.95
R5944:Krt36	UTSW	11	100105313	missense	probably benign
R6188:Krt36	UTSW	11	100102420	missense	probably benign	0.00
R6271:Krt36	UTSW	11	100104472	nonsense	probably null
R6809:Krt36	UTSW	11	100105509	missense	probably benign	0.00
R6856:Krt36	UTSW	11	100103390	missense	probably damaging	1.00
R7153:Krt36	UTSW	11	100105146	nonsense	probably null
R7602:Krt36	UTSW	11	100102960	missense	probably benign	0.00
R7822:Krt36	UTSW	11	100104140	missense	possibly damaging	0.86
R7894:Krt36	UTSW	11	100105235	missense	probably damaging	1.00
R8234:Krt36	UTSW	11	100104201	missense	probably damaging	1.00
R8480:Krt36	UTSW	11	100102809	missense	possibly damaging	0.95
Z1088:Krt36	UTSW	11	100104189	missense	possibly damaging	0.90

Posted On

2013-04-17