Mutagenetix > Incidental Mutation

Incidental Mutation 'R7111:Krt86'

551533

Institutional Source

Beutler Lab

Gene Symbol

Krt86

Ensembl Gene

ENSMUSG00000067614

Gene Name

keratin 86

Synonyms

Krt2-10, Khb4, Krt2-11, MHb4

MMRRC Submission

045203-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R7111 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101473478-101479986 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101476617 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 297 (Y297F)

Ref Sequence

ENSEMBL: ENSMUSP00000085365 (fasta)

Gene Model

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

AlphaFold

P97861

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088049
AA Change: Y297F

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000085365
Gene: ENSMUSG00000067614
AA Change: Y297F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (54/54)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	G	19: 57,073,877	N384T	probably benign	Het
Agap3	A	G	5: 24,501,398	Y843C	probably damaging	Het
Aldh9a1	T	A	1: 167,354,452	V118E	probably benign	Het
Arhgef26	T	A	3: 62,345,268	S414T	possibly damaging	Het
Armc9	T	C	1: 86,159,995	Y18H	probably damaging	Het
Bod1l	A	G	5: 41,813,120		probably null	Het
Casp1	A	T	9: 5,299,816	E96D	probably benign	Het
Ccdc171	A	G	4: 83,693,761	I898V	probably benign	Het
Cd79b	T	C	11: 106,314,539	I42M	possibly damaging	Het
Cdca7	G	A	2: 72,485,231	R346H	probably damaging	Het
Cdh23	T	A	10: 60,387,044	D1200V	probably damaging	Het
Cdh7	T	C	1: 110,137,908	S176P		Het
Cdkn1c	T	C	7: 143,460,589	D40G	possibly damaging	Het
Ckap5	G	A	2: 91,607,572	R1666H	probably damaging	Het
Cxcl1	A	G	5: 90,891,323	T5A	unknown	Het
Dnah2	A	C	11: 69,446,753		probably null	Het
Dusp27	T	C	1: 166,127,154	E9G	possibly damaging	Het
Ephb3	A	T	16: 21,218,827	K500*	probably null	Het
Fam13c	T	A	10: 70,554,506	H533Q	probably benign	Het
Fat4	T	A	3: 39,010,533	D4879E	probably damaging	Het
Grk6	G	T	13: 55,458,920	W511L	probably damaging	Het
Hivep3	G	C	4: 120,095,234	S249T	possibly damaging	Het
Iqch	T	A	9: 63,512,317	Y496F	possibly damaging	Het
Itga2	T	C	13: 114,900,530	I21V	unknown	Het
Itpr2	A	T	6: 146,325,056	C1397S	probably damaging	Het
Limch1	G	T	5: 67,025,176		probably null	Het
Mfsd6	G	T	1: 52,709,758		probably null	Het
Mx1	A	G	16: 97,455,176	V181A	probably damaging	Het
Nme8	G	A	13: 19,675,647	R268W	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266		probably benign	Het
Olfr1163	G	A	2: 88,070,656	T242I	probably damaging	Het
Olfr796	T	A	10: 129,607,960	I174F	possibly damaging	Het
Pappa2	T	A	1: 158,956,526	I305F	probably benign	Het
Pdlim3	A	G	8: 45,917,502	K232E	probably damaging	Het
Rcn1	T	C	2: 105,389,014	E278G	probably damaging	Het
Ros1	T	C	10: 52,181,810	D47G	probably benign	Het
Sema4c	G	A	1: 36,553,079	T229M	possibly damaging	Het
Serpina3j	T	A	12: 104,317,533	W297R	probably damaging	Het
Serpinb11	A	G	1: 107,376,884	E193G	probably benign	Het
Shank2	A	G	7: 144,411,552	I966V	probably benign	Het
Siglece	T	C	7: 43,659,903	D77G	probably damaging	Het
Sqstm1	G	T	11: 50,202,591	Q327K	probably benign	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Svep1	A	T	4: 58,118,207	D838E	possibly damaging	Het
Tacc2	G	A	7: 130,728,888	A191T	probably benign	Het
Tnfrsf18	T	A	4: 156,028,711	W285R	probably damaging	Het
Tspan9	T	C	6: 127,965,763	D167G	probably null	Het
Uaca	C	T	9: 60,871,838	T1169I	probably benign	Het
Umod	G	T	7: 119,477,146	Y132*	probably null	Het
Vmn2r31	A	G	7: 7,396,481	F159S	probably damaging	Het
Vmn2r82	C	T	10: 79,378,771	T196I	probably benign	Het
Wdr63	T	C	3: 146,097,273	I54M	probably damaging	Het
Wrap53	A	T	11: 69,562,479	W379R	probably damaging	Het
Zfp866	A	T	8: 69,766,571	V133D	probably benign	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
IGL01107:Krt86	APN	15	101475425	missense	probably damaging	1.00
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
R7932:Krt86	UTSW	15	101476592	missense	probably damaging	1.00
R8462:Krt86	UTSW	15	101479403	missense	probably benign	0.00
R8956:Krt86	UTSW	15	101477276	missense	probably benign	0.03
Z1177:Krt86	UTSW	15	101476897	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GAAGTCTTGTGTGGACCAGG -3'
(R):5'- ACAATGGATGTGCAAGATGC -3'

Sequencing Primer
(F):5'- GGCTGAGCCTTCAAGAAGTTTTTATC -3'
(R):5'- ATGCACAGTGGTCAGGCTG -3'

Posted On

2019-05-15