Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01325:Krt76'

74207

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 #

IGL01325

Quality Score

Status

Chromosome

Chromosomal Location

101884351-101892920 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101884888 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 572 (S572T)

Ref Sequence

ENSEMBL: ENSMUSP00000097754 (fasta)

Gene Model

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

AlphaFold

Q3UV17

Predicted Effect

unknown
Transcript: ENSMUST00000100179
AA Change: S572T

SMART Domains

Protein: ENSMUSP00000097754
Gene: ENSMUSG00000075402
AA Change: S572T

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	C	13: 60,853,533	T127A	probably damaging	Het
Acrv1	T	A	9: 36,698,514	M227K	probably benign	Het
Adam22	T	C	5: 8,127,333	N592S	probably benign	Het
Adamts15	T	A	9: 30,921,688	I184F	possibly damaging	Het
Adcy1	T	C	11: 7,064,102	V168A	possibly damaging	Het
Arl6ip5	T	C	6: 97,232,540	F179L	probably benign	Het
Asxl2	G	T	12: 3,427,172	R6L	probably damaging	Het
Btaf1	T	A	19: 37,004,649		probably benign	Het
Ccdc136	T	C	6: 29,412,950	F445L	probably benign	Het
Cpne3	T	C	4: 19,535,229	S268G	probably benign	Het
Crtc3	C	T	7: 80,677,368	R70Q	probably damaging	Het
Fam169a	C	A	13: 97,122,699	A421E	probably benign	Het
Fhod1	A	T	8: 105,331,649	M825K	probably benign	Het
Gjb2	T	C	14: 57,100,221	T177A	probably benign	Het
Gm6576	A	G	15: 27,025,884		noncoding transcript	Het
Herpud2	A	G	9: 25,113,911	V175A	probably benign	Het
Hmgxb3	T	C	18: 61,134,006	D1052G	probably damaging	Het
Itpr1	T	A	6: 108,381,208	F578L	probably benign	Het
Kdm7a	T	G	6: 39,158,309		probably benign	Het
Lrrcc1	T	C	3: 14,536,541		probably null	Het
March9	A	C	10: 127,057,590	V183G	probably damaging	Het
Mkl2	T	C	16: 13,401,224	V578A	probably damaging	Het
Ndufaf6	A	T	4: 11,070,251	D123E	probably benign	Het
Nhlh2	T	G	3: 102,013,026	Y125D	probably damaging	Het
Nol4l	A	G	2: 153,436,351		probably benign	Het
Npas1	C	T	7: 16,463,322	G206D	probably benign	Het
Olfr651	T	C	7: 104,553,689	F257L	probably damaging	Het
Olfr994	C	A	2: 85,430,295	C178F	possibly damaging	Het
Pcdhb4	T	A	18: 37,309,623	V662E	probably damaging	Het
Plxna3	G	A	X: 74,335,794	G758S	probably damaging	Het
Prdm15	T	A	16: 97,806,517	N709Y	probably damaging	Het
Pygo2	C	T	3: 89,432,446		probably benign	Het
Ranbp2	T	A	10: 58,476,298	S947T	probably damaging	Het
Rasgrp1	T	A	2: 117,298,529	H203L	probably damaging	Het
Rbbp6	G	A	7: 122,988,618	G270R	probably damaging	Het
Rcl1	A	G	19: 29,121,262		probably null	Het
Rpl23a-ps1	T	C	1: 45,981,633		noncoding transcript	Het
Serpinb7	T	G	1: 107,435,380	H91Q	probably damaging	Het
Shd	C	T	17: 55,972,839	P111S	possibly damaging	Het
Slc35e1	G	T	8: 72,483,758		probably benign	Het
Srgap3	C	T	6: 112,775,686	R279H	probably damaging	Het
Sstr4	G	A	2: 148,395,552	E28K	probably benign	Het
Stip1	T	C	19: 7,021,096		probably benign	Het
Syne2	A	G	12: 75,926,514	E1097G	probably benign	Het
Tbcd	T	A	11: 121,540,993	V489E	probably damaging	Het
Tnks2	T	A	19: 36,871,633	S516R	probably benign	Het
Trmt44	T	A	5: 35,568,803	R343S	possibly damaging	Het
Trps1	A	G	15: 50,846,814	S47P	probably benign	Het
Ubr3	A	C	2: 69,917,097	K235Q	possibly damaging	Het
Uckl1	G	A	2: 181,574,961	Q48*	probably null	Het
Vat1	T	C	11: 101,465,715	D140G	probably benign	Het
Vmn2r80	A	G	10: 79,194,247	T636A	possibly damaging	Het
Zfp423	A	T	8: 87,781,611		probably null	Het
Zfp667	C	A	7: 6,290,546	T15N	probably damaging	Het

Other mutations in Krt76

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01475:Krt76	APN	15	101888513	missense	probably benign	0.11
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
R7786:Krt76	UTSW	15	101890530	missense	probably damaging	0.98
R7808:Krt76	UTSW	15	101890494	missense	probably damaging	1.00
R7825:Krt76	UTSW	15	101887503	missense	possibly damaging	0.46
R8079:Krt76	UTSW	15	101888390	missense	possibly damaging	0.61
R8846:Krt76	UTSW	15	101887337	missense	probably damaging	1.00
R8980:Krt76	UTSW	15	101892555	missense	unknown
Z1088:Krt76	UTSW	15	101890551	missense	probably damaging	1.00

Posted On

2013-10-07