Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01943:Krt76'

180919

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 #

IGL01943

Quality Score

Status

Chromosome

Chromosomal Location

101884351-101892920 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101889045 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 293 (D293V)

Ref Sequence

ENSEMBL: ENSMUSP00000097754 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000100179
AA Change: D293V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097754
Gene: ENSMUSG00000075402
AA Change: D293V

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16a	A	G	17: 35,096,483	K169E	probably benign	Het
Ago4	A	G	4: 126,517,195	V167A	probably damaging	Het
AI314180	A	G	4: 58,849,937	F429L	possibly damaging	Het
Bcam	C	T	7: 19,765,498	R200H	probably damaging	Het
Cblb	G	A	16: 52,139,633		probably null	Het
Cdc37	T	C	9: 21,143,113	E72G	probably benign	Het
Chek2	T	A	5: 110,841,227		probably benign	Het
Col6a1	A	T	10: 76,719,123		probably null	Het
Col7a1	A	G	9: 108,984,016		probably null	Het
Fmo3	C	T	1: 162,967,006	R165H	probably benign	Het
Gm2663	C	T	6: 40,996,076	G199D	probably damaging	Het
Gm6904	A	T	14: 59,251,162	V62E	probably damaging	Het
Gm8108	T	C	14: 4,127,217	S134P	probably damaging	Het
Kif1b	A	T	4: 149,214,905		probably null	Het
Lifr	T	A	15: 7,188,149	C853S	probably damaging	Het
Muc5b	A	T	7: 141,861,497	I2727F	possibly damaging	Het
Myo7a	T	C	7: 98,065,647	K1606R	possibly damaging	Het
Noxred1	G	T	12: 87,223,181	Q259K	probably benign	Het
Obox3	C	T	7: 15,626,852	E121K	probably benign	Het
Olfr125	G	A	17: 37,835,053	R18H	probably benign	Het
Olfr1388	T	A	11: 49,444,188	C112*	probably null	Het
Olfr1449	T	C	19: 12,935,674	L312S	probably benign	Het
Olfr348	T	C	2: 36,787,083	I186T	probably benign	Het
Pkd2l2	T	C	18: 34,417,036	F245L	probably damaging	Het
Pla2g6	T	C	15: 79,313,116	Q86R	probably null	Het
Polq	T	A	16: 37,061,443	I1044K	possibly damaging	Het
Pomgnt2	G	T	9: 121,982,470	T415N	probably benign	Het
Pprc1	T	A	19: 46,064,544		probably benign	Het
Prol1	T	A	5: 88,327,961	M70K	probably benign	Het
Ptpn22	T	A	3: 103,886,336	V601E	probably benign	Het
Slc16a3	T	C	11: 120,956,883		probably null	Het
Slco1b2	A	G	6: 141,676,286	D489G	possibly damaging	Het
Sphk2	T	C	7: 45,710,724		probably benign	Het
Stat4	C	T	1: 52,096,855	T441I	possibly damaging	Het
Tle1	A	T	4: 72,122,402	V647E	probably damaging	Het
Tnrc6b	C	A	15: 80,927,695	Y814*	probably null	Het
Tubgcp3	A	G	8: 12,654,301	F256S	probably damaging	Het
Uqcrb	A	T	13: 66,902,763		probably null	Het
Vmn1r200	A	T	13: 22,395,927	E300V	possibly damaging	Het
Zfp324	C	T	7: 12,968,786		probably benign	Het
Zxdc	T	C	6: 90,372,538		probably benign	Het

Other mutations in Krt76

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:Krt76	APN	15	101884888	missense	unknown
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
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

2014-05-07