Mutagenetix > Incidental Mutation

Incidental Mutation 'R2171:Krt73'

237512

Institutional Source

Beutler Lab

Gene Symbol

Krt73

Ensembl Gene

ENSMUSG00000063661

Gene Name

keratin 73

Synonyms

MMRRC Submission

040173-MU

Accession Numbers

Essential gene?

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

Stock #

R2171 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101701743-101710781 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101709345 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 154 (Q154R)

Ref Sequence

ENSEMBL: ENSMUSP00000065349 (fasta)

Gene Model

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

AlphaFold

Q6NXH9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063292
AA Change: Q154R

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000065349
Gene: ENSMUSG00000063661
AA Change: Q154R

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: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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
Abt1	A	G	13: 23,606,387 (GRCm39)	L189P	probably damaging	Het
Adgrl3	C	A	5: 81,660,362 (GRCm39)	S377*	probably null	Het
Adgrv1	A	G	13: 81,419,037 (GRCm39)	V5986A	probably damaging	Het
Arv1	T	G	8: 125,455,094 (GRCm39)	C102W	probably damaging	Het
Asb18	T	C	1: 89,896,419 (GRCm39)	H207R	probably benign	Het
Bach2	T	C	4: 32,501,662 (GRCm39)	V13A	probably damaging	Het
Bccip	T	C	7: 133,320,843 (GRCm39)	S206P	probably benign	Het
Cdhr4	T	C	9: 107,870,117 (GRCm39)	S41P	probably benign	Het
Chd7	A	G	4: 8,752,424 (GRCm39)	Y307C	probably damaging	Het
Clec4f	A	T	6: 83,629,846 (GRCm39)	S237R	possibly damaging	Het
Cntnap5a	A	G	1: 116,116,132 (GRCm39)	D538G	possibly damaging	Het
Col9a2	T	A	4: 120,902,198 (GRCm39)	C173*	probably null	Het
Ctr9	T	A	7: 110,646,117 (GRCm39)	M703K	possibly damaging	Het
Cyp2a12	A	G	7: 26,729,057 (GRCm39)	Y83C	probably damaging	Het
Eef1akmt3	A	C	10: 126,868,843 (GRCm39)	D210E	probably benign	Het
Erbin	A	G	13: 103,971,466 (GRCm39)	F717L	probably benign	Het
Gtf3a	A	G	5: 146,892,272 (GRCm39)	N341S	probably benign	Het
Hltf	T	C	3: 20,113,245 (GRCm39)	V6A	probably damaging	Het
Itga6	T	A	2: 71,650,358 (GRCm39)	Y135N	probably damaging	Het
Lce1a1	C	T	3: 92,554,048 (GRCm39)	C142Y	unknown	Het
Lcorl	A	T	5: 45,904,493 (GRCm39)	I112N	probably damaging	Het
Ltbp1	C	T	17: 75,598,312 (GRCm39)	H916Y	probably damaging	Het
Lypla2	T	C	4: 135,697,915 (GRCm39)		probably null	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mmp1a	T	A	9: 7,475,357 (GRCm39)	D375E	probably damaging	Het
Nlrp14	T	G	7: 106,781,709 (GRCm39)	L302R	probably damaging	Het
Npy2r	T	G	3: 82,447,708 (GRCm39)	T243P	possibly damaging	Het
Or11h4	A	T	14: 50,973,876 (GRCm39)	S248T	probably benign	Het
Or51k2	T	C	7: 103,595,992 (GRCm39)	V73A	probably damaging	Het
Paqr9	A	T	9: 95,442,931 (GRCm39)	H307L	probably damaging	Het
Phc3	T	C	3: 31,005,078 (GRCm39)	T172A	probably damaging	Het
Pigs	A	G	11: 78,219,638 (GRCm39)	T39A	probably damaging	Het
Pik3c2g	C	T	6: 139,801,012 (GRCm39)	Q386*	probably null	Het
Pira2	T	C	7: 3,847,417 (GRCm39)	S91G	probably benign	Het
Plxna2	T	A	1: 194,482,925 (GRCm39)	N1539K	probably damaging	Het
Poc5	C	T	13: 96,547,257 (GRCm39)	H507Y	probably damaging	Het
Pou2f1	A	T	1: 165,707,925 (GRCm39)		probably benign	Het
Pthlh	T	G	6: 147,158,694 (GRCm39)	K89Q	probably damaging	Het
Rims4	A	T	2: 163,706,046 (GRCm39)		probably null	Het
Rnf138	A	G	18: 21,159,143 (GRCm39)	N188D	probably damaging	Het
Rreb1	A	G	13: 38,114,822 (GRCm39)	D727G	probably benign	Het
Sc5d	T	G	9: 42,166,682 (GRCm39)	K286Q	probably benign	Het
Slc10a5	C	T	3: 10,400,342 (GRCm39)	G106D	possibly damaging	Het
Smg6	A	T	11: 74,929,472 (GRCm39)	Q967L	probably damaging	Het
Spty2d1	C	T	7: 46,644,361 (GRCm39)	R636H	probably damaging	Het
Srms	A	T	2: 180,850,573 (GRCm39)	Y195*	probably null	Het
Susd4	A	G	1: 182,719,759 (GRCm39)	D458G	probably benign	Het
Tecta	T	C	9: 42,270,220 (GRCm39)	R1363G	probably damaging	Het
Thbs1	G	A	2: 117,953,060 (GRCm39)	G890D	probably damaging	Het
Tpp2	T	C	1: 43,996,606 (GRCm39)	V317A	probably benign	Het
Ttpa	T	C	4: 20,021,357 (GRCm39)	V175A	probably damaging	Het
Vps13b	G	T	15: 35,887,343 (GRCm39)	D3251Y	probably benign	Het
Vps54	A	G	11: 21,248,810 (GRCm39)	D441G	probably benign	Het
Zfp738	A	T	13: 67,819,096 (GRCm39)	Y298*	probably null	Het
Zfp804a	G	A	2: 82,087,527 (GRCm39)	C452Y	possibly damaging	Het
Zxdc	A	G	6: 90,359,461 (GRCm39)	K698E	possibly 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
IGL02063:Krt73	APN	15	101,704,204 (GRCm39)	splice site	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
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

Predicted Primers

PCR Primer
(F):5'- TTTAAGGAAGCCTCACCCCATG -3'
(R):5'- TAAGGACTCCCAGAGGTGTG -3'

Sequencing Primer
(F):5'- ACAGCATCCGACTCACCTCTTC -3'
(R):5'- GAGTTCACCTGTGAAGGT -3'

Posted On

2014-10-02