Mutagenetix > Incidental Mutation

Incidental Mutation 'R9795:Krt73'

734904

Institutional Source

Beutler Lab

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 #

R9795 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101793308-101802346 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 101802290 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 3 (R3L)

Ref Sequence

ENSEMBL: ENSMUSP00000065349 (fasta)

Gene Model

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

AlphaFold

Q6NXH9

Predicted Effect

probably damaging
Transcript: ENSMUST00000063292
AA Change: R3L

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

SMART Domains

Protein: ENSMUSP00000065349
Gene: ENSMUSG00000063661
AA Change: R3L

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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.6%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430105I19Rik	T	C	2: 118,757,303	S517G	unknown	Het
Adamts20	C	T	15: 94,403,299	G115R	possibly damaging	Het
Adgrl3	T	C	5: 81,689,574	V701A	probably damaging	Het
Afap1l1	T	C	18: 61,741,751	D453G	possibly damaging	Het
Ano1	A	T	7: 144,621,697	W495R	probably damaging	Het
Apc	T	A	18: 34,314,575	L1508Q	probably damaging	Het
Bbs12	C	T	3: 37,320,075	T224I	possibly damaging	Het
Cald1	A	T	6: 34,746,136	M52L		Het
Cdk12	T	A	11: 98,211,225	D636E	unknown	Het
Cfap53	A	G	18: 74,305,670	D306G	probably benign	Het
Cntnap4	T	C	8: 112,881,725	V1259A	probably benign	Het
Cntnap5c	A	T	17: 58,102,197	T477S	probably benign	Het
Epha3	T	C	16: 63,552,547	E931G	probably benign	Het
Fam26f	T	C	10: 34,126,548	I180V	probably damaging	Het
Foxred1	CGGG	CGG	9: 35,210,856		probably null	Het
Gstt1	T	C	10: 75,798,557		probably benign	Het
Hao1	T	A	2: 134,530,632	Y152F	possibly damaging	Het
Hcn4	C	T	9: 58,853,479	Q436*	probably null	Het
Hmcn1	G	A	1: 150,732,938	P1498S	possibly damaging	Het
Igkv4-79	A	G	6: 69,043,185	S49P	probably damaging	Het
Lrriq3	T	C	3: 155,187,676	M338T	probably benign	Het
Ltbp2	A	T	12: 84,829,354	I493N	probably damaging	Het
Ly6e	G	T	15: 74,958,541	C80F	probably damaging	Het
Map1a	T	C	2: 121,290,823		probably null	Het
Mitf	A	G	6: 97,993,182	H137R	probably benign	Het
Nr1h4	T	G	10: 89,478,789	T286P	probably benign	Het
Nsd2	A	G	5: 33,846,145	D213G	possibly damaging	Het
Nuggc	T	C	14: 65,609,896	S131P	probably damaging	Het
Nwd2	A	G	5: 63,806,889	E1272G	probably damaging	Het
Olfr1099	T	A	2: 86,958,775	I228F	probably damaging	Het
Olfr1251	T	C	2: 89,667,467	I140V	probably benign	Het
Olfr1315-ps1	T	C	2: 112,110,985	H89R	probably benign	Het
Olfr1385	A	T	11: 49,495,055	N174I	probably damaging	Het
Olfr199	T	A	16: 59,216,575	I13F	possibly damaging	Het
Olfr507	A	G	7: 108,622,662	I283M	probably benign	Het
Olfr851	T	C	9: 19,497,116	Y123H	probably damaging	Het
Olfr862	T	A	9: 19,884,051	M85L	probably benign	Het
Pacsin3	C	A	2: 91,263,815	A363D	probably benign	Het
Pcdh17	C	T	14: 84,532,910	R943*	probably null	Het
Pkhd1l1	T	C	15: 44,543,587	S2407P	probably benign	Het
Ppip5k2	A	T	1: 97,744,097	Y489*	probably null	Het
Qrich1	T	A	9: 108,533,890	S205T	probably benign	Het
Rasgrp1	T	C	2: 117,287,948	D520G	probably benign	Het
Rbm20	C	A	19: 53,864,120	T1177K	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Sel1l3	C	A	5: 53,172,582	R477L	probably benign	Het
Slc27a3	C	T	3: 90,389,568	W32*	probably null	Het
Slc5a8	T	C	10: 88,921,729	I527T	possibly damaging	Het
Slc6a7	C	A	18: 61,005,794	R214L	probably benign	Het
Stx7	T	C	10: 24,181,577	L167P	probably damaging	Het
Sult1d1	T	A	5: 87,564,796	N63I	probably damaging	Het
Ttc23l	T	A	15: 10,537,645	I180F	probably benign	Het
Usp31	A	G	7: 121,648,276	S1315P	probably benign	Het
Usp9y	T	C	Y: 1,364,679	M1045V	probably benign	Het
Vmn2r118	T	C	17: 55,592,496	T803A	probably damaging	Het
Vmn2r97	T	A	17: 18,947,299	V605D	probably damaging	Het
Wdr26	A	G	1: 181,209,247	F143S	probably damaging	Het
Zfp51	T	G	17: 21,461,789		probably null	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
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
Z1177:Krt73	UTSW	15	101793811	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTAGCCACATTGAAGGAGATG -3'
(R):5'- TTGCAAGCCCAGCACTTTG -3'

Sequencing Primer
(F):5'- AGATGCTCCTGGGACTCCTCAG -3'
(R):5'- GCCCTATGCCTATGATTTCGATAG -3'

Posted On

2022-11-14