Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01107:Krt86'

52805

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krt86

Ensembl Gene

ENSMUSG00000067614

Gene Name

keratin 86

Synonyms

Krt2-10, Khb4, Krt2-11, MHb4

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL01107

Quality Score

Status

Chromosome

Chromosomal Location

101473478-101479986 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101475425 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 200 (L200Q)

Ref Sequence

ENSEMBL: ENSMUSP00000085365 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088049]

Predicted Effect

probably damaging
Transcript: ENSMUST00000088049
AA Change: L200Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000085365
Gene: ENSMUSG00000067614
AA Change: L200Q

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	2	102	4.6e-15	PFAM
Filament	105	416	6.92e-148	SMART
low complexity region	420	438	N/A	INTRINSIC
low complexity region	469	486	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230173

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type II keratin protein, which heterodimerizes with type I keratins to form hair and nails. This gene is present in a cluster of related genes and pseudogenes on chromosome 12. Mutations in this gene have been observed in patients with the hair disease monilethrix. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,797,936	F215Y	probably damaging	Het
2700049A03Rik	T	C	12: 71,194,468		probably null	Het
Akip1	C	T	7: 109,711,838	T195M	probably damaging	Het
Arhgef16	T	C	4: 154,280,244	N631S	probably benign	Het
Brat1	C	T	5: 140,717,177	S544L	probably damaging	Het
Cfap65	C	T	1: 74,919,183		probably null	Het
D17Wsu92e	A	T	17: 27,786,069		probably null	Het
Defa22	T	A	8: 21,163,037		probably null	Het
Dnajc4	C	T	19: 6,989,501	R153H	probably benign	Het
Dusp11	A	G	6: 85,952,370		probably benign	Het
E2f4	T	A	8: 105,304,177		probably benign	Het
Ece1	T	A	4: 137,938,658	L271Q	probably damaging	Het
Fcgrt	T	C	7: 45,093,328	D343G	probably damaging	Het
Igsf10	T	C	3: 59,331,524	E412G	probably damaging	Het
Il4ra	G	T	7: 125,575,914	L431F	possibly damaging	Het
Lpcat1	T	A	13: 73,494,828	F126I	probably damaging	Het
Prag1	A	G	8: 36,099,931	T79A	probably benign	Het
Pramef12	A	T	4: 144,393,094	I301N	probably benign	Het
Psg29	G	T	7: 17,204,925	L41F	probably benign	Het
Rai14	C	T	15: 10,599,711		probably benign	Het
Reg3a	A	G	6: 78,383,245	D136G	probably benign	Het
Rif1	A	G	2: 52,111,303	T1590A	probably benign	Het
Rorb	A	T	19: 18,957,328	L300*	probably null	Het
Sin3b	T	C	8: 72,731,105	C150R	possibly damaging	Het
Smarcc1	C	A	9: 110,221,937	H942N	probably damaging	Het
Tas2r105	A	G	6: 131,687,111	V118A	probably benign	Het
Tmem131	T	C	1: 36,829,581	S388G	probably damaging	Het
Ttll9	C	A	2: 153,002,889		probably benign	Het
Ush1c	A	G	7: 46,209,901	L498P	probably damaging	Het
Vmn2r100	A	G	17: 19,521,356	Y110C	probably damaging	Het
Zbtb11	T	C	16: 56,006,007	Y800H	probably damaging	Het
Zdhhc20	T	A	14: 57,865,589	E101V	probably damaging	Het

Other mutations in Krt86

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Krt86	APN	15	101476515	missense	possibly damaging	0.55
IGL00597:Krt86	APN	15	101476226	missense	probably benign	0.01
IGL00776:Krt86	APN	15	101473860	missense	probably benign	0.00
IGL00800:Krt86	APN	15	101473860	missense	probably benign	0.00
IGL00801:Krt86	APN	15	101473860	missense	probably benign	0.00
IGL00857:Krt86	APN	15	101473860	missense	probably benign	0.00
IGL00902:Krt86	APN	15	101473860	missense	probably benign	0.00
IGL00903:Krt86	APN	15	101473860	missense	probably benign	0.00
IGL00939:Krt86	APN	15	101473860	missense	probably benign	0.00
IGL00954:Krt86	APN	15	101473860	missense	probably benign	0.00
IGL01638:Krt86	APN	15	101475472	splice site	probably benign
IGL02711:Krt86	APN	15	101473662	missense	probably damaging	1.00
BB009:Krt86	UTSW	15	101476592	missense	probably damaging	1.00
BB019:Krt86	UTSW	15	101476592	missense	probably damaging	1.00
R0046:Krt86	UTSW	15	101477402	missense	probably benign	0.00
R0193:Krt86	UTSW	15	101479363	splice site	probably benign
R0242:Krt86	UTSW	15	101476573	nonsense	probably null
R0242:Krt86	UTSW	15	101476573	nonsense	probably null
R0607:Krt86	UTSW	15	101479531	missense	unknown
R2139:Krt86	UTSW	15	101473758	missense	probably benign	0.11
R4464:Krt86	UTSW	15	101473914	missense	probably damaging	0.99
R4985:Krt86	UTSW	15	101477265	missense	probably damaging	0.99
R5195:Krt86	UTSW	15	101476933	missense	probably benign	0.10
R5587:Krt86	UTSW	15	101473593	missense	probably benign	0.01
R5600:Krt86	UTSW	15	101476505	missense	probably benign	0.00
R5729:Krt86	UTSW	15	101476548	missense	probably benign	0.18
R5876:Krt86	UTSW	15	101476610	missense	probably damaging	0.98
R6169:Krt86	UTSW	15	101476289	missense	probably damaging	1.00
R6776:Krt86	UTSW	15	101476936	missense	probably benign	0.29
R6990:Krt86	UTSW	15	101473833	missense	probably benign	0.03
R7111:Krt86	UTSW	15	101476617	missense	possibly damaging	0.90
R7932:Krt86	UTSW	15	101476592	missense	probably damaging	1.00
R8462:Krt86	UTSW	15	101479403	missense	probably benign	0.00
Z1177:Krt86	UTSW	15	101476897	missense	probably damaging	0.98

Posted On

2013-06-21