Mutagenetix > Incidental Mutation

Incidental Mutation 'R7489:Krt73'

580438

Institutional Source

Beutler Lab

Gene Symbol

Krt73

Ensembl Gene

ENSMUSG00000063661

Gene Name

keratin 73

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R7489 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101793308-101802346 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 101793859 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 523 (V523G)

Ref Sequence

ENSEMBL: ENSMUSP00000065349 (fasta)

Gene Model

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

AlphaFold

Q6NXH9

Predicted Effect

probably benign
Transcript: ENSMUST00000063292
AA Change: V523G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000065349
Gene: ENSMUSG00000063661
AA Change: V523G

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	A	T	16: 88,627,234	V123D	probably damaging	Het
4930503E14Rik	A	T	14: 44,170,299	N92K	probably damaging	Het
4930519G04Rik	T	C	5: 114,879,625	S166P	unknown	Het
Adgrb3	G	A	1: 25,547,505	T369I	probably damaging	Het
Agbl4	T	C	4: 111,526,658	S237P	probably damaging	Het
Ahi1	T	C	10: 20,963,750	C187R	probably benign	Het
Akap9	C	T	5: 4,004,933	T1626M	probably damaging	Het
Alas1	A	T	9: 106,241,634		probably null	Het
Apbb1	G	T	7: 105,567,480	T301N	probably benign	Het
Arhgap42	A	G	9: 9,006,358	V679A	probably benign	Het
Atp2a2	T	C	5: 122,467,767	D375G	probably benign	Het
Best1	A	G	19: 9,997,046	S45P	possibly damaging	Het
Bpifb4	A	C	2: 153,944,004	T21P	probably damaging	Het
Btbd11	T	A	10: 85,627,215	Y615N	probably damaging	Het
Cdx2	A	T	5: 147,306,672	M104K	probably benign	Het
Ces1d	A	T	8: 93,178,131	L327Q	probably damaging	Het
Ces2e	A	G	8: 104,929,780	H214R	probably benign	Het
Chd5	G	A	4: 152,373,468	G1014D	probably damaging	Het
Cmya5	T	A	13: 93,091,838	K2247N	possibly damaging	Het
Dip2c	T	C	13: 9,533,312	V110A	probably damaging	Het
Fam71b	G	C	11: 46,407,441	G524A		Het
Fancd2	T	C	6: 113,564,304	S724P	probably benign	Het
Galnt1	T	A	18: 24,282,157	V485D	probably damaging	Het
Gli2	A	G	1: 118,838,175	S749P	probably benign	Het
H2-M5	A	C	17: 36,989,471	L12V	unknown	Het
Iqcf6	C	A	9: 106,627,457	Q107K	probably benign	Het
Itfg1	C	T	8: 85,767,001	C283Y	probably damaging	Het
Jak3	A	C	8: 71,684,292	K704T	probably damaging	Het
Kl	A	T	5: 150,952,996	T94S	probably damaging	Het
Lap3	T	C	5: 45,500,506	F215L	probably damaging	Het
Lce1c	G	A	3: 92,680,647	C127Y	unknown	Het
Map6	C	T	7: 99,268,061	R14C	probably damaging	Het
Mcm10	T	A	2: 5,001,301	K410M	probably damaging	Het
Med23	T	A	10: 24,904,356	N967K	probably damaging	Het
Mmp8	A	T	9: 7,561,387	T131S	probably benign	Het
Ms4a14	T	C	19: 11,302,031	I1054M	probably benign	Het
Mup14	A	G	4: 61,303,888	M1T	probably null	Het
Myzap	T	A	9: 71,561,038	T110S	probably benign	Het
Nmrk1	A	T	19: 18,642,242	K153M	probably damaging	Het
Nmrk1	G	T	19: 18,642,243	K153N	possibly damaging	Het
Olfr1267-ps1	T	A	2: 90,086,360	M34L	probably benign	Het
Olfr814	A	T	10: 129,874,682	I25N	probably damaging	Het
Pcdh12	T	C	18: 38,281,789	H761R	possibly damaging	Het
Pde4d	C	A	13: 109,116,767	L43I	unknown	Het
Prrc2a	A	T	17: 35,162,354	S46R	unknown	Het
Rab19	A	G	6: 39,388,105	T100A	probably benign	Het
Rad51b	C	T	12: 79,300,585	R8*	probably null	Het
Sclt1	A	T	3: 41,629,597	L642Q	probably damaging	Het
Scyl3	T	C	1: 163,949,176	I392T	possibly damaging	Het
Sipa1l3	A	G	7: 29,366,702	W1076R	probably damaging	Het
Slc12a9	C	A	5: 137,322,820	A478S	probably damaging	Het
Slc5a9	C	A	4: 111,883,916	C511F	probably damaging	Het
Sspo	T	C	6: 48,473,713	L2612P	probably damaging	Het
Synrg	C	T	11: 83,990,825	T329I	probably benign	Het
Tdrd9	A	G	12: 112,067,637	T1338A	probably benign	Het
Tenm4	A	T	7: 96,837,314	D996V	possibly damaging	Het
Ticam2	T	A	18: 46,560,517	I168L	probably damaging	Het
Tom1l1	T	C	11: 90,656,359	I374M	probably benign	Het
Trip10	A	T	17: 57,250,966	K51I	probably damaging	Het
Trpc6	T	A	9: 8,656,544	D735E	probably benign	Het
Trpm8	T	A	1: 88,379,759	N1050K	possibly damaging	Het
Tuba8	A	T	6: 121,226,021	D431V	probably damaging	Het
Ucn2	C	T	9: 108,986,254	T28I	possibly damaging	Het
Vmn1r21	C	T	6: 57,843,892	G189D	probably damaging	Het
Vmn2r8	T	C	5: 108,797,656	N695S	possibly damaging	Het
Xirp2	A	C	2: 67,525,560	N3555T	possibly damaging	Het
Zfp119a	A	T	17: 55,866,158	H228Q	probably damaging	Het
Zfr	T	A	15: 12,152,982	H566Q	probably benign	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
IGL02076:Krt73	APN	15	101799935	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGGGTTTGATGATAAGGCCACG -3'
(R):5'- TTCCACAGCTGTCATCAGTAG -3'

Sequencing Primer
(F):5'- TTGATGATAAGGCCACGTTGAC -3'
(R):5'- ACAGCTGTCATCAGTAGTTCCG -3'

Posted On

2019-10-07