Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00835:Krt82'

12702

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krt82

Ensembl Gene

ENSMUSG00000049548

Gene Name

keratin 82

Synonyms

Krt2-20

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

IGL00835

Quality Score

Status

Chromosome

Chromosomal Location

101541214-101550667 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101543378 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 334 (I334N)

Ref Sequence

ENSEMBL: ENSMUSP00000023713 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023713]

Predicted Effect

probably damaging
Transcript: ENSMUST00000023713
AA Change: I334N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023713
Gene: ENSMUSG00000049548
AA Change: I334N

Domain	Start	End	E-Value	Type
low complexity region	38	57	N/A	INTRINSIC
Pfam:Keratin_2_head	61	114	6.1e-13	PFAM
Filament	117	428	1.32e-153	SMART

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. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this keratin appears to be a hair cuticle-specific keratin. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,302,733	D1023G	probably damaging	Het
Agbl3	A	G	6: 34,799,732	D391G	probably damaging	Het
Aggf1	C	A	13: 95,362,477	V450F	probably damaging	Het
Alms1	A	G	6: 85,622,134	Y1314C	probably damaging	Het
Arfgef3	A	G	10: 18,661,358	F192L	probably benign	Het
Arnt	A	G	3: 95,490,340	D541G	probably damaging	Het
AU040320	A	G	4: 126,757,071		probably null	Het
Cep290	A	T	10: 100,563,380	R2255*	probably null	Het
Creb3l4	T	A	3: 90,241,987	H138L	possibly damaging	Het
Crispld2	G	A	8: 120,010,648	R46H	probably damaging	Het
Crlf3	T	C	11: 80,047,675	T379A	probably benign	Het
Ctsb	T	A	14: 63,135,650	D85E	probably damaging	Het
Etv2	A	T	7: 30,633,667	D325E	probably benign	Het
Fggy	T	A	4: 95,837,628	I335N	possibly damaging	Het
Fkbp1b	C	T	12: 4,833,726	G90S	probably damaging	Het
Glra3	A	G	8: 55,940,977		probably benign	Het
Gpatch8	C	A	11: 102,478,549	A1388S	probably damaging	Het
Grin2b	T	A	6: 135,733,570	S993C	probably damaging	Het
Gsg1	A	T	6: 135,244,092	M103K	possibly damaging	Het
Il12rb2	A	T	6: 67,360,567	V110D	probably damaging	Het
Kat8	A	G	7: 127,920,504	D174G	probably damaging	Het
Lrrfip1	C	T	1: 91,115,418	T515I	possibly damaging	Het
Lrrtm2	T	A	18: 35,214,239	L3F	probably benign	Het
Man1c1	T	A	4: 134,564,532	Q575L	probably damaging	Het
Panx1	A	G	9: 15,007,844	S240P	probably damaging	Het
Phldb2	G	A	16: 45,751,456	T1191I	probably damaging	Het
Plb1	G	A	5: 32,364,172	E1456K	unknown	Het
Prtn3	A	G	10: 79,881,052	T84A	probably benign	Het
R3hdm1	T	C	1: 128,235,632		probably benign	Het
Sirpa	G	A	2: 129,609,183	C121Y	probably damaging	Het
Slc9a3	C	A	13: 74,160,302	H475N	probably benign	Het
Smgc	A	T	15: 91,844,420	D121V	probably damaging	Het
Spata16	A	T	3: 26,924,262	E459V	probably damaging	Het
Sult2a4	T	A	7: 13,909,789	E284D	probably benign	Het
Tbc1d32	A	G	10: 56,089,846		probably benign	Het
Thsd7a	A	C	6: 12,554,934	V317G	probably damaging	Het
Trh	T	C	6: 92,242,789	E182G	probably benign	Het
Tsc1	A	G	2: 28,672,466	D368G	possibly damaging	Het
Ttc39d	T	G	17: 80,216,526	C205G	probably damaging	Het
Unc79	T	G	12: 103,141,890		probably benign	Het
Vps13d	A	T	4: 145,160,652	D724E	probably damaging	Het
Zc3h14	T	A	12: 98,747,524		probably null	Het
Zfp507	G	T	7: 35,776,038	H917N	probably damaging	Het

Other mutations in Krt82

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01112:Krt82	APN	15	101545523	missense	probably damaging	1.00
IGL01820:Krt82	APN	15	101543452	splice site	probably benign
IGL02529:Krt82	APN	15	101550396	nonsense	probably null
IGL02894:Krt82	APN	15	101542720	missense	probably damaging	1.00
IGL02974:Krt82	APN	15	101550585	nonsense	probably null
IGL03263:Krt82	APN	15	101541872	missense	probably benign	0.00
R0268:Krt82	UTSW	15	101541713	missense	probably benign	0.02
R0385:Krt82	UTSW	15	101545593	missense	probably damaging	1.00
R0542:Krt82	UTSW	15	101545600	splice site	probably benign
R1073:Krt82	UTSW	15	101550254	missense	probably damaging	1.00
R1601:Krt82	UTSW	15	101545153	missense	probably damaging	1.00
R1795:Krt82	UTSW	15	101543384	missense	possibly damaging	0.90
R1944:Krt82	UTSW	15	101548535	missense	probably damaging	1.00
R1974:Krt82	UTSW	15	101545162	missense	probably benign	0.00
R2049:Krt82	UTSW	15	101545156	missense	probably damaging	0.96
R2140:Krt82	UTSW	15	101545156	missense	probably damaging	0.96
R2851:Krt82	UTSW	15	101548435	missense	probably damaging	1.00
R2852:Krt82	UTSW	15	101548435	missense	probably damaging	1.00
R2853:Krt82	UTSW	15	101548435	missense	probably damaging	1.00
R3815:Krt82	UTSW	15	101550600	missense	probably damaging	1.00
R4324:Krt82	UTSW	15	101541747	missense	probably benign	0.00
R4798:Krt82	UTSW	15	101550488	missense	probably benign	0.01
R4980:Krt82	UTSW	15	101545099	missense	possibly damaging	0.85
R5212:Krt82	UTSW	15	101545049	missense	probably damaging	1.00
R5260:Krt82	UTSW	15	101548388	missense	possibly damaging	0.88
R5821:Krt82	UTSW	15	101548385	nonsense	probably null
R6009:Krt82	UTSW	15	101545105	missense	probably benign	0.00
R6955:Krt82	UTSW	15	101542849	missense	probably damaging	1.00
R7194:Krt82	UTSW	15	101542756	missense	probably damaging	1.00
R7307:Krt82	UTSW	15	101542907	missense	probably damaging	0.97
R7420:Krt82	UTSW	15	101545587	missense	probably damaging	0.96
R7837:Krt82	UTSW	15	101548357	missense	possibly damaging	0.86
R8354:Krt82	UTSW	15	101541803	missense	probably damaging	1.00
R8371:Krt82	UTSW	15	101545111	missense	probably benign	0.12
R8454:Krt82	UTSW	15	101541803	missense	probably damaging	1.00
Z1176:Krt82	UTSW	15	101541852	missense	probably benign	0.00

Posted On

2012-12-06