Mutagenetix > Incidental Mutation

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01475

Quality Score

Status

Chromosome

Chromosomal Location

101792786-101801355 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101796948 bp (GRCm39)

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]

AlphaFold

Q3UV17

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: 59,380,252 (GRCm39)	N15K	possibly damaging	Het
Adam32	A	T	8: 25,362,664 (GRCm39)	I587K	probably damaging	Het
Adamtsl4	T	C	3: 95,584,843 (GRCm39)	S942G	probably benign	Het
Adamtsl5	A	G	10: 80,180,750 (GRCm39)	F104S	probably damaging	Het
Adgrf5	A	G	17: 43,761,245 (GRCm39)	D980G	probably benign	Het
Apba1	A	T	19: 23,894,950 (GRCm39)	D462V	possibly damaging	Het
Arhgef11	T	C	3: 87,634,433 (GRCm39)		probably benign	Het
Cd74	T	C	18: 60,943,393 (GRCm39)		probably benign	Het
Cdc16	T	C	8: 13,831,542 (GRCm39)	S592P	probably benign	Het
Cenpj	A	G	14: 56,802,502 (GRCm39)	M21T	possibly damaging	Het
Col28a1	A	G	6: 8,103,521 (GRCm39)	L425S	probably damaging	Het
Dbt	C	T	3: 116,313,908 (GRCm39)	T25I	possibly damaging	Het
Dguok	C	A	6: 83,467,552 (GRCm39)	M98I	possibly damaging	Het
Dmxl1	T	C	18: 50,004,781 (GRCm39)	L943P	probably damaging	Het
Eloa	G	A	4: 135,738,231 (GRCm39)	S243L	probably benign	Het
Enkur	C	A	2: 21,201,530 (GRCm39)	A52S	probably damaging	Het
Ezh1	T	C	11: 101,083,787 (GRCm39)	E744G	probably damaging	Het
Fbxw11	T	C	11: 32,672,101 (GRCm39)	S190P	possibly damaging	Het
Foxb1	G	A	9: 69,666,550 (GRCm39)		probably benign	Het
Gabra5	C	T	7: 57,058,432 (GRCm39)	G439S	probably damaging	Het
Gtf2h2	A	T	13: 100,617,541 (GRCm39)	V207D	probably damaging	Het
Hoatz	A	G	9: 51,011,358 (GRCm39)	I93T	probably benign	Het
Lair1	C	A	7: 4,012,683 (GRCm39)		probably benign	Het
Lrit2	T	A	14: 36,791,051 (GRCm39)	H243Q	probably damaging	Het
Mast3	C	T	8: 71,232,174 (GRCm39)	A1268T	probably damaging	Het
Matn2	G	A	15: 34,316,671 (GRCm39)	M4I	possibly damaging	Het
Mob1b	T	A	5: 88,897,502 (GRCm39)	F137I	probably damaging	Het
Mreg	T	C	1: 72,203,325 (GRCm39)		probably benign	Het
Nom1	T	C	5: 29,651,272 (GRCm39)	V684A	possibly damaging	Het
Pate2	T	A	9: 35,580,998 (GRCm39)	L1Q	probably null	Het
Pla2r1	T	C	2: 60,271,425 (GRCm39)		probably benign	Het
Plxna1	A	G	6: 89,331,870 (GRCm39)	F447L	possibly damaging	Het
Pno1	A	T	11: 17,160,992 (GRCm39)	I114N	probably damaging	Het
Ppp1r7	T	G	1: 93,288,540 (GRCm39)		probably benign	Het
Pprc1	T	A	19: 46,059,968 (GRCm39)	Y1503N	probably benign	Het
Rab30	T	C	7: 92,484,930 (GRCm39)	V132A	probably damaging	Het
Slc15a4	T	C	5: 127,679,024 (GRCm39)	T439A	probably benign	Het
Slc29a3	A	G	10: 60,559,596 (GRCm39)	V186A	possibly damaging	Het
Stxbp5l	G	A	16: 37,165,454 (GRCm39)	T88I	possibly damaging	Het
Tarbp1	A	G	8: 127,160,701 (GRCm39)	V1250A	probably benign	Het
Tcte2	A	T	17: 13,937,824 (GRCm39)		probably benign	Het
Trp53bp1	A	T	2: 121,100,800 (GRCm39)		probably null	Het
Trpc4	A	T	3: 54,173,828 (GRCm39)	L407F	possibly damaging	Het
Vmn1r6	T	C	6: 56,979,896 (GRCm39)	F164S	probably damaging	Het
Zfp579	C	A	7: 4,997,743 (GRCm39)	R56L	probably benign	Het

Other mutations in Krt76

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:Krt76	APN	15	101,793,323 (GRCm39)	missense	unknown
IGL01504:Krt76	APN	15	101,796,608 (GRCm39)	missense	probably damaging	1.00
IGL01506:Krt76	APN	15	101,800,835 (GRCm39)	missense	probably damaging	0.97
IGL01943:Krt76	APN	15	101,797,480 (GRCm39)	missense	probably null	0.98
IGL03164:Krt76	APN	15	101,795,886 (GRCm39)	missense	possibly damaging	0.50
PIT4378001:Krt76	UTSW	15	101,800,842 (GRCm39)	missense	probably damaging	0.99
R0105:Krt76	UTSW	15	101,793,347 (GRCm39)	missense	unknown
R0105:Krt76	UTSW	15	101,793,347 (GRCm39)	missense	unknown
R0448:Krt76	UTSW	15	101,799,082 (GRCm39)	missense	probably damaging	1.00
R0730:Krt76	UTSW	15	101,795,784 (GRCm39)	missense	probably damaging	1.00
R0920:Krt76	UTSW	15	101,800,874 (GRCm39)	missense	possibly damaging	0.80
R1568:Krt76	UTSW	15	101,793,443 (GRCm39)	missense	unknown
R1779:Krt76	UTSW	15	101,801,122 (GRCm39)	missense	unknown
R1869:Krt76	UTSW	15	101,797,922 (GRCm39)	critical splice donor site	probably null
R1911:Krt76	UTSW	15	101,796,600 (GRCm39)	nonsense	probably null
R2160:Krt76	UTSW	15	101,796,820 (GRCm39)	missense	probably damaging	1.00
R2504:Krt76	UTSW	15	101,793,293 (GRCm39)	missense	unknown
R4487:Krt76	UTSW	15	101,798,917 (GRCm39)	missense	possibly damaging	0.71
R4729:Krt76	UTSW	15	101,797,516 (GRCm39)	missense	probably damaging	1.00
R4747:Krt76	UTSW	15	101,794,180 (GRCm39)	missense	probably damaging	1.00
R4912:Krt76	UTSW	15	101,796,597 (GRCm39)	nonsense	probably null
R5357:Krt76	UTSW	15	101,795,820 (GRCm39)	missense	probably benign	0.04
R6738:Krt76	UTSW	15	101,795,913 (GRCm39)	missense	probably benign	0.40
R7786:Krt76	UTSW	15	101,798,965 (GRCm39)	missense	probably damaging	0.98
R7808:Krt76	UTSW	15	101,798,929 (GRCm39)	missense	probably damaging	1.00
R7825:Krt76	UTSW	15	101,795,938 (GRCm39)	missense	possibly damaging	0.46
R8079:Krt76	UTSW	15	101,796,825 (GRCm39)	missense	possibly damaging	0.61
R8846:Krt76	UTSW	15	101,795,772 (GRCm39)	missense	probably damaging	1.00
R8980:Krt76	UTSW	15	101,800,990 (GRCm39)	missense	unknown
Z1088:Krt76	UTSW	15	101,798,986 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-18