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

101792786-101801355 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101793323 bp (GRCm39)

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: 61,001,347 (GRCm39)	T127A	probably damaging	Het
Acrv1	T	A	9: 36,609,810 (GRCm39)	M227K	probably benign	Het
Adam22	T	C	5: 8,177,333 (GRCm39)	N592S	probably benign	Het
Adamts15	T	A	9: 30,832,984 (GRCm39)	I184F	possibly damaging	Het
Adcy1	T	C	11: 7,014,102 (GRCm39)	V168A	possibly damaging	Het
Arl6ip5	T	C	6: 97,209,501 (GRCm39)	F179L	probably benign	Het
Asxl2	G	T	12: 3,477,172 (GRCm39)	R6L	probably damaging	Het
Btaf1	T	A	19: 36,982,049 (GRCm39)		probably benign	Het
Ccdc136	T	C	6: 29,412,949 (GRCm39)	F445L	probably benign	Het
Cpne3	T	C	4: 19,535,229 (GRCm39)	S268G	probably benign	Het
Crtc3	C	T	7: 80,327,116 (GRCm39)	R70Q	probably damaging	Het
Fam169a	C	A	13: 97,259,207 (GRCm39)	A421E	probably benign	Het
Fhod1	A	T	8: 106,058,281 (GRCm39)	M825K	probably benign	Het
Gjb2	T	C	14: 57,337,678 (GRCm39)	T177A	probably benign	Het
Gm6576	A	G	15: 27,025,970 (GRCm39)		noncoding transcript	Het
Herpud2	A	G	9: 25,025,207 (GRCm39)	V175A	probably benign	Het
Hmgxb3	T	C	18: 61,267,078 (GRCm39)	D1052G	probably damaging	Het
Itpr1	T	A	6: 108,358,169 (GRCm39)	F578L	probably benign	Het
Kdm7a	T	G	6: 39,135,243 (GRCm39)		probably benign	Het
Lrrcc1	T	C	3: 14,601,601 (GRCm39)		probably null	Het
Marchf9	A	C	10: 126,893,459 (GRCm39)	V183G	probably damaging	Het
Mrtfb	T	C	16: 13,219,088 (GRCm39)	V578A	probably damaging	Het
Ndufaf6	A	T	4: 11,070,251 (GRCm39)	D123E	probably benign	Het
Nhlh2	T	G	3: 101,920,342 (GRCm39)	Y125D	probably damaging	Het
Nol4l	A	G	2: 153,278,271 (GRCm39)		probably benign	Het
Npas1	C	T	7: 16,197,247 (GRCm39)	G206D	probably benign	Het
Or52h9	T	C	7: 104,202,896 (GRCm39)	F257L	probably damaging	Het
Or5ak24	C	A	2: 85,260,639 (GRCm39)	C178F	possibly damaging	Het
Pcdhb4	T	A	18: 37,442,676 (GRCm39)	V662E	probably damaging	Het
Plxna3	G	A	X: 73,379,400 (GRCm39)	G758S	probably damaging	Het
Prdm15	T	A	16: 97,607,717 (GRCm39)	N709Y	probably damaging	Het
Pygo2	C	T	3: 89,339,753 (GRCm39)		probably benign	Het
Ranbp2	T	A	10: 58,312,120 (GRCm39)	S947T	probably damaging	Het
Rasgrp1	T	A	2: 117,129,010 (GRCm39)	H203L	probably damaging	Het
Rbbp6	G	A	7: 122,587,841 (GRCm39)	G270R	probably damaging	Het
Rcl1	A	G	19: 29,098,662 (GRCm39)		probably null	Het
Rpl23a-ps1	T	C	1: 46,020,793 (GRCm39)		noncoding transcript	Het
Serpinb7	T	G	1: 107,363,110 (GRCm39)	H91Q	probably damaging	Het
Shd	C	T	17: 56,279,839 (GRCm39)	P111S	possibly damaging	Het
Slc35e1	G	T	8: 73,237,602 (GRCm39)		probably benign	Het
Srgap3	C	T	6: 112,752,647 (GRCm39)	R279H	probably damaging	Het
Sstr4	G	A	2: 148,237,472 (GRCm39)	E28K	probably benign	Het
Stip1	T	C	19: 6,998,464 (GRCm39)		probably benign	Het
Syne2	A	G	12: 75,973,288 (GRCm39)	E1097G	probably benign	Het
Tbcd	T	A	11: 121,431,819 (GRCm39)	V489E	probably damaging	Het
Tnks2	T	A	19: 36,849,033 (GRCm39)	S516R	probably benign	Het
Trmt44	T	A	5: 35,726,147 (GRCm39)	R343S	possibly damaging	Het
Trps1	A	G	15: 50,710,210 (GRCm39)	S47P	probably benign	Het
Ubr3	A	C	2: 69,747,441 (GRCm39)	K235Q	possibly damaging	Het
Uckl1	G	A	2: 181,216,754 (GRCm39)	Q48*	probably null	Het
Vat1	T	C	11: 101,356,541 (GRCm39)	D140G	probably benign	Het
Vmn2r80	A	G	10: 79,030,081 (GRCm39)	T636A	possibly damaging	Het
Zfp423	A	T	8: 88,508,239 (GRCm39)		probably null	Het
Zfp667	C	A	7: 6,293,545 (GRCm39)	T15N	probably damaging	Het

Other mutations in Krt76

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01475:Krt76	APN	15	101,796,948 (GRCm39)	missense	probably benign	0.11
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

2013-10-07