Mutagenetix > Incidental Mutation

Incidental Mutation 'R6885:Krt73'

536812

Institutional Source

Beutler Lab

Gene Symbol

Krt73

Ensembl Gene

ENSMUSG00000063661

Gene Name

keratin 73

Synonyms

MMRRC Submission

045031-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

R6885 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101793308-101802346 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101796398 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 351 (E351G)

Ref Sequence

ENSEMBL: ENSMUSP00000065349 (fasta)

Gene Model

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

AlphaFold

Q6NXH9

Predicted Effect

probably damaging
Transcript: ENSMUST00000063292
AA Change: E351G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000065349
Gene: ENSMUSG00000063661
AA Change: E351G

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

Meta Mutation Damage Score

0.3289

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

98% (58/59)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,520,109 (GRCm38)	I1025M	probably benign	Het
Adamtsl5	T	A	10: 80,343,631 (GRCm38)	T164S	probably benign	Het
Ankar	C	T	1: 72,643,036 (GRCm38)	A1239T	unknown	Het
Aox4	A	T	1: 58,264,378 (GRCm38)	S1192C	probably damaging	Het
Atl2	T	C	17: 79,852,553 (GRCm38)	D68G	probably damaging	Het
Btnl4	T	C	17: 34,472,945 (GRCm38)	I228V	probably benign	Het
Catsper4	T	C	4: 134,215,149 (GRCm38)	T231A	probably benign	Het
Ccl12	A	T	11: 82,102,697 (GRCm38)	T54S	probably damaging	Het
Cntn1	T	C	15: 92,243,099 (GRCm38)		probably null	Het
Cog5	T	A	12: 31,894,199 (GRCm38)	D694E	probably damaging	Het
Crat	T	A	2: 30,415,196 (GRCm38)		probably benign	Het
Crot	T	C	5: 8,973,635 (GRCm38)	T418A	probably benign	Het
Cubn	G	A	2: 13,318,278 (GRCm38)	P2826L	probably damaging	Het
Dnah17	A	G	11: 118,090,772 (GRCm38)	F1698L	possibly damaging	Het
Dock8	T	A	19: 25,147,378 (GRCm38)	D1019E	possibly damaging	Het
Eps15	A	G	4: 109,309,164 (GRCm38)	N85D	probably damaging	Het
Exoc1	T	C	5: 76,559,042 (GRCm38)	S457P	probably damaging	Het
Ext1	G	A	15: 53,101,692 (GRCm38)	T426I	probably damaging	Het
Fat1	T	C	8: 44,952,452 (GRCm38)	S747P	possibly damaging	Het
Gas7	A	G	11: 67,683,387 (GRCm38)	D396G	probably damaging	Het
Gm5114	G	T	7: 39,408,156 (GRCm38)	R680S	probably benign	Het
Gpcpd1	A	T	2: 132,554,074 (GRCm38)	L94M	possibly damaging	Het
Gse1	C	A	8: 120,229,482 (GRCm38)		probably benign	Het
Hmgb1	T	C	5: 149,050,661 (GRCm38)	E26G	probably benign	Het
Incenp	C	T	19: 9,875,132 (GRCm38)	R714Q	unknown	Het
Ksr1	A	G	11: 79,047,295 (GRCm38)		probably null	Het
Lpin2	T	G	17: 71,215,150 (GRCm38)	S60A	probably damaging	Het
Lrrc71	T	C	3: 87,742,620 (GRCm38)		probably null	Het
Mafb	A	G	2: 160,366,019 (GRCm38)	S220P	possibly damaging	Het
Maml3	TCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	TCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	3: 51,697,579 (GRCm38)			Het
Mcmbp	T	C	7: 128,725,109 (GRCm38)		probably null	Het
Olfr1191-ps1	A	G	2: 88,643,597 (GRCm38)	T277A	probably damaging	Het
Or1e30	A	T	11: 73,787,100 (GRCm38)	H54L	possibly damaging	Het
Paqr9	T	C	9: 95,560,043 (GRCm38)	S29P	probably benign	Het
Parm1	A	G	5: 91,594,210 (GRCm38)	T146A	possibly damaging	Het
Pgm1	T	A	5: 64,103,878 (GRCm38)	F238L	probably benign	Het
Pigv	A	T	4: 133,665,481 (GRCm38)	F126Y	probably damaging	Het
Pitx2	T	C	3: 129,218,608 (GRCm38)	M222T	probably damaging	Het
Plekhg6	T	C	6: 125,378,730 (GRCm38)	N37S	probably benign	Het
Pramel25	T	C	4: 143,793,533 (GRCm38)	C116R	probably damaging	Het
Psme4	A	T	11: 30,834,307 (GRCm38)	K961*	probably null	Het
Rbpj	T	C	5: 53,653,151 (GRCm38)	W392R	probably damaging	Het
Reg3a	T	A	6: 78,381,055 (GRCm38)		probably null	Het
Rfc3	C	T	5: 151,648,284 (GRCm38)	S85N	probably benign	Het
Rtn3	T	C	19: 7,458,331 (GRCm38)	T80A	probably benign	Het
Sash1	T	C	10: 8,784,221 (GRCm38)	T195A	probably damaging	Het
Ska1	A	G	18: 74,206,839 (GRCm38)	V12A	probably benign	Het
Slc25a1	A	G	16: 17,927,430 (GRCm38)	V80A	probably benign	Het
Slc26a5	A	T	5: 21,834,344 (GRCm38)	V217D	probably damaging	Het
Slc46a1	A	G	11: 78,466,979 (GRCm38)	D286G	probably benign	Het
Spata2l	A	T	8: 123,235,558 (GRCm38)	L88Q	probably damaging	Het
Sptbn1	T	G	11: 30,138,634 (GRCm38)	Q876P	probably benign	Het
Tenm2	T	A	11: 36,023,580 (GRCm38)	I2377F	possibly damaging	Het
Thbs4	A	T	13: 92,762,869 (GRCm38)	D539E	probably damaging	Het
Tmem154	T	A	3: 84,692,506 (GRCm38)	C162S	possibly damaging	Het
Tpcn1	T	C	5: 120,544,437 (GRCm38)	E502G	probably benign	Het
Traf7	G	A	17: 24,512,292 (GRCm38)	R257C	probably benign	Het
Tsc22d2	T	C	3: 58,416,208 (GRCm38)	Y174H	probably damaging	Het
Usp8	A	G	2: 126,752,310 (GRCm38)	E802G	probably damaging	Het
Vmn1r5	T	C	6: 56,986,057 (GRCm38)	V239A	possibly damaging	Het
Vmn2r99	T	A	17: 19,380,195 (GRCm38)	S494T	possibly damaging	Het
Zbtb38	A	G	9: 96,686,464 (GRCm38)	F856L	probably damaging	Het

Other mutations in Krt73

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01082:Krt73	APN	15	101,798,937 (GRCm38)	critical splice acceptor site	probably null
IGL01768:Krt73	APN	15	101,798,856 (GRCm38)	missense	probably benign	0.01
IGL01836:Krt73	APN	15	101,795,896 (GRCm38)	missense	probably benign	0.38
IGL02058:Krt73	APN	15	101,802,021 (GRCm38)	missense	probably benign
IGL02063:Krt73	APN	15	101,795,769 (GRCm38)	splice site	probably benign
IGL02076:Krt73	APN	15	101,799,935 (GRCm38)	missense	probably damaging	1.00
IGL02878:Krt73	APN	15	101,798,826 (GRCm38)	missense	probably damaging	1.00
IGL03127:Krt73	APN	15	101,795,840 (GRCm38)	missense	probably benign
R0032:Krt73	UTSW	15	101,794,052 (GRCm38)	missense	probably benign	0.30
R0109:Krt73	UTSW	15	101,796,395 (GRCm38)	nonsense	probably null
R0143:Krt73	UTSW	15	101,800,773 (GRCm38)	missense	probably damaging	1.00
R0233:Krt73	UTSW	15	101,802,016 (GRCm38)	missense	probably benign	0.12
R0233:Krt73	UTSW	15	101,802,016 (GRCm38)	missense	probably benign	0.12
R0254:Krt73	UTSW	15	101,799,889 (GRCm38)	splice site	probably benign
R0256:Krt73	UTSW	15	101,801,936 (GRCm38)	missense	probably damaging	1.00
R0497:Krt73	UTSW	15	101,802,230 (GRCm38)	missense	probably damaging	0.99
R1592:Krt73	UTSW	15	101,802,239 (GRCm38)	nonsense	probably null
R1681:Krt73	UTSW	15	101,802,047 (GRCm38)	missense	possibly damaging	0.70
R1696:Krt73	UTSW	15	101,799,909 (GRCm38)	missense	probably damaging	1.00
R1766:Krt73	UTSW	15	101,793,928 (GRCm38)	missense	probably damaging	1.00
R2031:Krt73	UTSW	15	101,798,764 (GRCm38)	splice site	probably benign
R2171:Krt73	UTSW	15	101,800,910 (GRCm38)	missense	possibly damaging	0.88
R4674:Krt73	UTSW	15	101,802,075 (GRCm38)	missense	probably benign	0.22
R4777:Krt73	UTSW	15	101,794,001 (GRCm38)	missense	probably benign
R4869:Krt73	UTSW	15	101,796,398 (GRCm38)	missense	probably damaging	1.00
R4892:Krt73	UTSW	15	101,795,809 (GRCm38)	missense	probably damaging	0.99
R5794:Krt73	UTSW	15	101,794,829 (GRCm38)	missense	probably benign	0.00
R6807:Krt73	UTSW	15	101,796,407 (GRCm38)	missense	probably damaging	1.00
R7489:Krt73	UTSW	15	101,793,859 (GRCm38)	missense	probably benign	0.00
R7682:Krt73	UTSW	15	101,802,045 (GRCm38)	missense	probably benign	0.08
R9167:Krt73	UTSW	15	101,793,970 (GRCm38)	missense	probably benign	0.00
R9795:Krt73	UTSW	15	101,802,290 (GRCm38)	missense	probably damaging	1.00
Z1177:Krt73	UTSW	15	101,793,811 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACCCTACGAGGTTCTGGAC -3'
(R):5'- GCCTTCAGAAAGATCAGCCAG -3'

Sequencing Primer
(F):5'- CCTACGAGGTTCTGGACTTCAG -3'
(R):5'- TTCAGAAAGATCAGCCAGACTTAAG -3'

Posted On

2018-10-18