Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02076:Krt73'

185979

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krt73

Ensembl Gene

ENSMUSG00000063661

Gene Name

keratin 73

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

IGL02076

Quality Score

Status

Chromosome

Chromosomal Location

101793308-101802346 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 101799935 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 229 (T229I)

Ref Sequence

ENSEMBL: ENSMUSP00000065349 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063292]

AlphaFold

Q6NXH9

Predicted Effect

probably damaging
Transcript: ENSMUST00000063292
AA Change: T229I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065349
Gene: ENSMUSG00000063661
AA Change: T229I

Domain	Start	End	E-Value	Type
low complexity region	17	57	N/A	INTRINSIC
Pfam:Keratin_2_head	59	127	1.4e-19	PFAM
Filament	130	443	5.39e-159	SMART
low complexity region	450	461	N/A	INTRINSIC
low complexity region	466	481	N/A	INTRINSIC

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. This gene encodes a protein that is expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	T	C	5: 8,136,900	Y407C	probably damaging	Het
Capn5	T	A	7: 98,131,743	K276*	probably null	Het
Cct4	T	C	11: 23,002,394	V495A	probably damaging	Het
Dapk3	A	G	10: 81,190,297	K141E	probably damaging	Het
Diexf	T	C	1: 193,130,059	H31R	probably damaging	Het
Dnah2	T	C	11: 69,422,559	N4264S	probably damaging	Het
Dok1	A	G	6: 83,032,831	L99P	probably damaging	Het
Ebf3	A	G	7: 137,231,301	V215A	possibly damaging	Het
Efnb2	A	G	8: 8,660,488	S43P	probably benign	Het
Jhy	G	A	9: 40,917,378	Q411*	probably null	Het
Mroh8	A	G	2: 157,271,962		probably null	Het
Olfm1	A	G	2: 28,222,625	T223A	probably damaging	Het
Olfr32	T	A	2: 90,138,815	E108V	probably damaging	Het
Olfr937	A	G	9: 39,060,585	L27P	probably damaging	Het
Oprk1	T	A	1: 5,602,289	D216E	probably damaging	Het
Pim1	T	A	17: 29,493,803	I230N	probably damaging	Het
Ppm1f	A	C	16: 16,914,171	T162P	possibly damaging	Het
Rbbp8	T	C	18: 11,705,819	Y186H	probably damaging	Het
Sema4a	C	T	3: 88,450,522	R225H	probably damaging	Het
Slc15a2	A	C	16: 36,762,381	F215C	probably damaging	Het
Slc25a1	A	G	16: 17,927,626	C41R	possibly damaging	Het
Stil	C	A	4: 115,023,637	H459Q	probably benign	Het
Tbc1d32	A	G	10: 56,088,403	I900T	possibly damaging	Het
Tmem33	T	C	5: 67,286,103	F208L	probably damaging	Het
Vmn2r72	A	G	7: 85,738,367	V663A	probably damaging	Het

Other mutations in Krt73

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01082:Krt73	APN	15	101798937	critical splice acceptor site	probably null
IGL01768:Krt73	APN	15	101798856	missense	probably benign	0.01
IGL01836:Krt73	APN	15	101795896	missense	probably benign	0.38
IGL02058:Krt73	APN	15	101802021	missense	probably benign
IGL02063:Krt73	APN	15	101795769	splice site	probably benign
IGL02878:Krt73	APN	15	101798826	missense	probably damaging	1.00
IGL03127:Krt73	APN	15	101795840	missense	probably benign
R0032:Krt73	UTSW	15	101794052	missense	probably benign	0.30
R0109:Krt73	UTSW	15	101796395	nonsense	probably null
R0143:Krt73	UTSW	15	101800773	missense	probably damaging	1.00
R0233:Krt73	UTSW	15	101802016	missense	probably benign	0.12
R0233:Krt73	UTSW	15	101802016	missense	probably benign	0.12
R0254:Krt73	UTSW	15	101799889	splice site	probably benign
R0256:Krt73	UTSW	15	101801936	missense	probably damaging	1.00
R0497:Krt73	UTSW	15	101802230	missense	probably damaging	0.99
R1592:Krt73	UTSW	15	101802239	nonsense	probably null
R1681:Krt73	UTSW	15	101802047	missense	possibly damaging	0.70
R1696:Krt73	UTSW	15	101799909	missense	probably damaging	1.00
R1766:Krt73	UTSW	15	101793928	missense	probably damaging	1.00
R2031:Krt73	UTSW	15	101798764	splice site	probably benign
R2171:Krt73	UTSW	15	101800910	missense	possibly damaging	0.88
R4674:Krt73	UTSW	15	101802075	missense	probably benign	0.22
R4777:Krt73	UTSW	15	101794001	missense	probably benign
R4869:Krt73	UTSW	15	101796398	missense	probably damaging	1.00
R4892:Krt73	UTSW	15	101795809	missense	probably damaging	0.99
R5794:Krt73	UTSW	15	101794829	missense	probably benign	0.00
R6807:Krt73	UTSW	15	101796407	missense	probably damaging	1.00
R6885:Krt73	UTSW	15	101796398	missense	probably damaging	1.00
R7489:Krt73	UTSW	15	101793859	missense	probably benign	0.00
R7682:Krt73	UTSW	15	101802045	missense	probably benign	0.08
R9167:Krt73	UTSW	15	101793970	missense	probably benign	0.00
R9795:Krt73	UTSW	15	101802290	missense	probably damaging	1.00
Z1177:Krt73	UTSW	15	101793811	missense	probably damaging	1.00

Posted On

2014-05-07