Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01475:Krt76'

88419

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krt76

Ensembl Gene

ENSMUSG00000075402

Gene Name

keratin 76

Synonyms

2310001L23Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01475

Quality Score

Status

Chromosome

Chromosomal Location

101884351-101892920 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101888513 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 317 (V317A)

Ref Sequence

ENSEMBL: ENSMUSP00000097754 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100179]

Predicted Effect

probably benign
Transcript: ENSMUST00000100179
AA Change: V317A

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000097754
Gene: ENSMUSG00000075402
AA Change: V317A

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	16	161	5.7e-39	PFAM
Filament	164	479	2.12e-166	SMART
low complexity region	488	551	N/A	INTRINSIC
low complexity region	565	593	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196731

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq, Jun 2009]
PHENOTYPE: Homozygotes mutants exhibit abnormalities in the hair cycle, tail skin and pigmentation, in the epidermis, and in the sebaceous gland. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	A	T	14: 59,142,803	N15K	possibly damaging	Het
4833427G06Rik	A	G	9: 51,100,058	I93T	probably benign	Het
Adam32	A	T	8: 24,872,648	I587K	probably damaging	Het
Adamtsl4	T	C	3: 95,677,533	S942G	probably benign	Het
Adamtsl5	A	G	10: 80,344,916	F104S	probably damaging	Het
Adgrf5	A	G	17: 43,450,354	D980G	probably benign	Het
Apba1	A	T	19: 23,917,586	D462V	possibly damaging	Het
Arhgef11	T	C	3: 87,727,126		probably benign	Het
Cd74	T	C	18: 60,810,321		probably benign	Het
Cdc16	T	C	8: 13,781,542	S592P	probably benign	Het
Cenpj	A	G	14: 56,565,045	M21T	possibly damaging	Het
Col28a1	A	G	6: 8,103,521	L425S	probably damaging	Het
Dbt	C	T	3: 116,520,259	T25I	possibly damaging	Het
Dguok	C	A	6: 83,490,570	M98I	possibly damaging	Het
Dmxl1	T	C	18: 49,871,714	L943P	probably damaging	Het
Eloa	G	A	4: 136,010,920	S243L	probably benign	Het
Enkur	C	A	2: 21,196,719	A52S	probably damaging	Het
Ezh1	T	C	11: 101,192,961	E744G	probably damaging	Het
Fbxw11	T	C	11: 32,722,101	S190P	possibly damaging	Het
Foxb1	G	A	9: 69,759,268		probably benign	Het
Gabra5	C	T	7: 57,408,684	G439S	probably damaging	Het
Gtf2h2	A	T	13: 100,481,033	V207D	probably damaging	Het
Lair1	C	A	7: 4,009,684		probably benign	Het
Lrit2	T	A	14: 37,069,094	H243Q	probably damaging	Het
Mast3	C	T	8: 70,779,530	A1268T	probably damaging	Het
Matn2	G	A	15: 34,316,525	M4I	possibly damaging	Het
Mob1b	T	A	5: 88,749,643	F137I	probably damaging	Het
Mreg	T	C	1: 72,164,166		probably benign	Het
Nom1	T	C	5: 29,446,274	V684A	possibly damaging	Het
Pate2	T	A	9: 35,669,702	L1Q	probably null	Het
Pla2r1	T	C	2: 60,441,081		probably benign	Het
Plxna1	A	G	6: 89,354,888	F447L	possibly damaging	Het
Pno1	A	T	11: 17,210,992	I114N	probably damaging	Het
Ppp1r7	T	G	1: 93,360,818		probably benign	Het
Pprc1	T	A	19: 46,071,529	Y1503N	probably benign	Het
Rab30	T	C	7: 92,835,722	V132A	probably damaging	Het
Slc15a4	T	C	5: 127,601,960	T439A	probably benign	Het
Slc29a3	A	G	10: 60,723,817	V186A	possibly damaging	Het
Stxbp5l	G	A	16: 37,345,092	T88I	possibly damaging	Het
Tarbp1	A	G	8: 126,433,962	V1250A	probably benign	Het
Tcte2	A	T	17: 13,717,562		probably benign	Het
Trp53bp1	A	T	2: 121,270,319		probably null	Het
Trpc4	A	T	3: 54,266,407	L407F	possibly damaging	Het
Vmn1r6	T	C	6: 57,002,911	F164S	probably damaging	Het
Zfp579	C	A	7: 4,994,744	R56L	probably benign	Het

Other mutations in Krt76

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:Krt76	APN	15	101884888	missense	unknown
IGL01504:Krt76	APN	15	101888173	missense	probably damaging	1.00
IGL01506:Krt76	APN	15	101892400	missense	probably damaging	0.97
IGL01943:Krt76	APN	15	101889045	missense	probably null	0.98
IGL03164:Krt76	APN	15	101887451	missense	possibly damaging	0.50
PIT4378001:Krt76	UTSW	15	101892407	missense	probably damaging	0.99
R0105:Krt76	UTSW	15	101884912	missense	unknown
R0105:Krt76	UTSW	15	101884912	missense	unknown
R0448:Krt76	UTSW	15	101890647	missense	probably damaging	1.00
R0730:Krt76	UTSW	15	101887349	missense	probably damaging	1.00
R0920:Krt76	UTSW	15	101892439	missense	possibly damaging	0.80
R1568:Krt76	UTSW	15	101885008	missense	unknown
R1779:Krt76	UTSW	15	101892687	missense	unknown
R1869:Krt76	UTSW	15	101889487	critical splice donor site	probably null
R1911:Krt76	UTSW	15	101888165	nonsense	probably null
R2160:Krt76	UTSW	15	101888385	missense	probably damaging	1.00
R2504:Krt76	UTSW	15	101884858	missense	unknown
R4487:Krt76	UTSW	15	101890482	missense	possibly damaging	0.71
R4729:Krt76	UTSW	15	101889081	missense	probably damaging	1.00
R4747:Krt76	UTSW	15	101885745	missense	probably damaging	1.00
R4912:Krt76	UTSW	15	101888162	nonsense	probably null
R5357:Krt76	UTSW	15	101887385	missense	probably benign	0.04
R6738:Krt76	UTSW	15	101887478	missense	probably benign	0.40
Z1088:Krt76	UTSW	15	101890551	missense	probably damaging	1.00

Posted On

2013-11-18