Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02063:Krt73'

185528

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krt73

Ensembl Gene

ENSMUSG00000063661

Gene Name

keratin 73

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

IGL02063

Quality Score

Status

Chromosome

Chromosomal Location

101701743-101710781 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 101704204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000065349 (fasta)

Gene Model

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

AlphaFold

Q6NXH9

Predicted Effect

probably benign
Transcript: ENSMUST00000063292

SMART Domains

Protein: ENSMUSP00000065349
Gene: ENSMUSG00000063661

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg2b	A	G	12: 105,614,581 (GRCm39)	Y1117H	possibly damaging	Het
B020004C17Rik	A	G	14: 57,253,480 (GRCm39)	R24G	probably damaging	Het
BC005624	A	G	2: 30,868,946 (GRCm39)	M76T	probably benign	Het
Blm	G	T	7: 80,159,167 (GRCm39)	S323*	probably null	Het
Card19	C	A	13: 49,356,607 (GRCm39)	G181*	probably null	Het
Cilp2	T	C	8: 70,335,515 (GRCm39)	I494M	probably damaging	Het
Col5a2	A	G	1: 45,442,579 (GRCm39)		probably null	Het
Col6a4	T	C	9: 105,934,617 (GRCm39)	D1431G	probably benign	Het
Cped1	G	A	6: 22,138,701 (GRCm39)	C560Y	probably damaging	Het
Cyfip1	T	C	7: 55,576,096 (GRCm39)	S1091P	probably damaging	Het
Ddx24	A	G	12: 103,384,461 (GRCm39)	I466T	probably damaging	Het
Dlg2	T	A	7: 91,459,684 (GRCm39)		probably benign	Het
Esf1	C	A	2: 140,006,377 (GRCm39)	D257Y	possibly damaging	Het
Fgfr2	A	G	7: 129,769,485 (GRCm39)	F634S	probably damaging	Het
Flywch2	A	G	17: 23,996,081 (GRCm39)		probably benign	Het
Gbp10	A	T	5: 105,383,906 (GRCm39)	I32N	possibly damaging	Het
Gli3	A	G	13: 15,900,957 (GRCm39)	D1448G	possibly damaging	Het
Gm10335	T	C	10: 14,399,147 (GRCm39)		probably benign	Het
Golga5	A	T	12: 102,438,418 (GRCm39)	E44D	probably benign	Het
H2-M10.1	C	T	17: 36,634,901 (GRCm39)		probably benign	Het
Ino80b	A	T	6: 83,101,143 (GRCm39)	D141E	probably damaging	Het
Itpr3	A	G	17: 27,338,997 (GRCm39)	I2593V	probably benign	Het
Loxl4	G	T	19: 42,596,778 (GRCm39)	L78I	probably benign	Het
Mbd5	A	T	2: 49,164,779 (GRCm39)	N360I	probably damaging	Het
Nfat5	A	T	8: 108,088,450 (GRCm39)	M495L	probably benign	Het
Nrxn3	A	T	12: 88,762,565 (GRCm39)	E204V	possibly damaging	Het
Or8k21	G	T	2: 86,145,137 (GRCm39)	F164L	possibly damaging	Het
Paqr4	A	T	17: 23,958,886 (GRCm39)	C38*	probably null	Het
Pcdhb13	T	A	18: 37,577,282 (GRCm39)	N553K	probably damaging	Het
Pcdhb9	T	A	18: 37,534,810 (GRCm39)	M268K	probably benign	Het
Pdap1	A	T	5: 145,071,869 (GRCm39)		probably benign	Het
Phf2	A	T	13: 48,975,118 (GRCm39)	Y281N	unknown	Het
Phka2	T	A	X: 159,347,209 (GRCm39)	I664N	possibly damaging	Het
Plekha7	A	T	7: 115,739,936 (GRCm39)	D762E	possibly damaging	Het
Plekhg4	T	A	8: 106,105,884 (GRCm39)		probably benign	Het
Ppfia2	A	T	10: 106,740,706 (GRCm39)	Q1006L	probably null	Het
Pramel12	C	A	4: 143,144,421 (GRCm39)	Q256K	probably benign	Het
Prmt5	G	A	14: 54,748,477 (GRCm39)	Q197*	probably null	Het
Prodh	A	T	16: 17,897,049 (GRCm39)		probably null	Het
Ptgr3	T	A	18: 84,113,390 (GRCm39)	Y355*	probably null	Het
Rnft2	A	G	5: 118,380,587 (GRCm39)		probably benign	Het
Rp1l1	G	T	14: 64,266,985 (GRCm39)	S857I	probably damaging	Het
Samd9l	A	G	6: 3,372,992 (GRCm39)	F1423S	probably damaging	Het
Scn3a	A	G	2: 65,291,854 (GRCm39)	Y1631H	probably damaging	Het
Slc22a5	A	T	11: 53,765,899 (GRCm39)	I229K	probably damaging	Het
Slco1a7	T	C	6: 141,684,615 (GRCm39)	D280G	probably benign	Het
Snd1	T	A	6: 28,526,220 (GRCm39)		probably benign	Het
Srrm1	G	T	4: 135,074,518 (GRCm39)		probably null	Het
Syne2	T	C	12: 76,098,874 (GRCm39)	V5252A	probably damaging	Het
Tek	A	G	4: 94,627,882 (GRCm39)	D2G	probably benign	Het
Uba1	T	C	X: 20,545,964 (GRCm39)	S803P	probably damaging	Het
Uggt2	A	G	14: 119,326,605 (GRCm39)	I202T	possibly damaging	Het
Umodl1	A	T	17: 31,206,888 (GRCm39)	I760F	probably benign	Het
Vgll1	A	G	X: 56,144,569 (GRCm39)		probably benign	Het
Zfp236	A	G	18: 82,676,276 (GRCm39)	V347A	probably benign	Het
Zswim9	T	C	7: 12,994,608 (GRCm39)	E516G	probably damaging	Het

Other mutations in Krt73

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01082:Krt73	APN	15	101,707,372 (GRCm39)	critical splice acceptor site	probably null
IGL01768:Krt73	APN	15	101,707,291 (GRCm39)	missense	probably benign	0.01
IGL01836:Krt73	APN	15	101,704,331 (GRCm39)	missense	probably benign	0.38
IGL02058:Krt73	APN	15	101,710,456 (GRCm39)	missense	probably benign
IGL02076:Krt73	APN	15	101,708,370 (GRCm39)	missense	probably damaging	1.00
IGL02878:Krt73	APN	15	101,707,261 (GRCm39)	missense	probably damaging	1.00
IGL03127:Krt73	APN	15	101,704,275 (GRCm39)	missense	probably benign
R0032:Krt73	UTSW	15	101,702,487 (GRCm39)	missense	probably benign	0.30
R0109:Krt73	UTSW	15	101,704,830 (GRCm39)	nonsense	probably null
R0143:Krt73	UTSW	15	101,709,208 (GRCm39)	missense	probably damaging	1.00
R0233:Krt73	UTSW	15	101,710,451 (GRCm39)	missense	probably benign	0.12
R0233:Krt73	UTSW	15	101,710,451 (GRCm39)	missense	probably benign	0.12
R0254:Krt73	UTSW	15	101,708,324 (GRCm39)	splice site	probably benign
R0256:Krt73	UTSW	15	101,710,371 (GRCm39)	missense	probably damaging	1.00
R0497:Krt73	UTSW	15	101,710,665 (GRCm39)	missense	probably damaging	0.99
R1592:Krt73	UTSW	15	101,710,674 (GRCm39)	nonsense	probably null
R1681:Krt73	UTSW	15	101,710,482 (GRCm39)	missense	possibly damaging	0.70
R1696:Krt73	UTSW	15	101,708,344 (GRCm39)	missense	probably damaging	1.00
R1766:Krt73	UTSW	15	101,702,363 (GRCm39)	missense	probably damaging	1.00
R2031:Krt73	UTSW	15	101,707,199 (GRCm39)	splice site	probably benign
R2171:Krt73	UTSW	15	101,709,345 (GRCm39)	missense	possibly damaging	0.88
R4674:Krt73	UTSW	15	101,710,510 (GRCm39)	missense	probably benign	0.22
R4777:Krt73	UTSW	15	101,702,436 (GRCm39)	missense	probably benign
R4869:Krt73	UTSW	15	101,704,833 (GRCm39)	missense	probably damaging	1.00
R4892:Krt73	UTSW	15	101,704,244 (GRCm39)	missense	probably damaging	0.99
R5794:Krt73	UTSW	15	101,703,264 (GRCm39)	missense	probably benign	0.00
R6807:Krt73	UTSW	15	101,704,842 (GRCm39)	missense	probably damaging	1.00
R6885:Krt73	UTSW	15	101,704,833 (GRCm39)	missense	probably damaging	1.00
R7489:Krt73	UTSW	15	101,702,294 (GRCm39)	missense	probably benign	0.00
R7682:Krt73	UTSW	15	101,710,480 (GRCm39)	missense	probably benign	0.08
R9167:Krt73	UTSW	15	101,702,405 (GRCm39)	missense	probably benign	0.00
R9795:Krt73	UTSW	15	101,710,725 (GRCm39)	missense	probably damaging	1.00
Z1177:Krt73	UTSW	15	101,702,246 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07