Mutagenetix > Incidental Mutations

Incidental Mutation 'R7025:Krt90'

545930

Institutional Source

Beutler Lab

Gene Symbol

Krt90

Ensembl Gene

ENSMUSG00000048699

Gene Name

keratin 90

Synonyms

4732456N10Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7025 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101552356-101562950 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101557175 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 337 (K337R)

Ref Sequence

ENSEMBL: ENSMUSP00000023714 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023714]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023714
AA Change: K337R

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023714
Gene: ENSMUSG00000048699
AA Change: K337R

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	16	139	3.1e-24	PFAM
Filament	142	453	1.05e-179	SMART
low complexity region	465	522	N/A	INTRINSIC
low complexity region	527	535	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit partial prenatal lethality and thickened long toenails. An increased caudal vertebrae number is observed in some mutant mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd4	T	A	11: 103,104,538	L90M	probably damaging	Het
Acot7	T	C	4: 152,178,189	S7P	unknown	Het
Ahcyl2	T	C	6: 29,908,421	Y388H	probably damaging	Het
Atp1a2	T	A	1: 172,284,550	R593*	probably null	Het
Bicral	T	C	17: 46,801,668	T869A	probably benign	Het
Brca2	C	T	5: 150,540,478	P1236S	probably benign	Het
Cacna2d1	C	T	5: 16,352,668	Q699*	probably null	Het
Ccser2	T	C	14: 36,940,007	N407D	probably damaging	Het
Cd300lg	A	G	11: 102,043,074	Y49C	probably damaging	Het
Cdh12	C	A	15: 21,358,814	T108K	probably damaging	Het
Ctnnd1	A	T	2: 84,610,606	I715K	possibly damaging	Het
Cyp17a1	T	A	19: 46,670,980	D137V	probably damaging	Het
Dbr1	A	G	9: 99,575,983	T19A	probably damaging	Het
Dnah3	C	T	7: 120,030,010	A1441T	possibly damaging	Het
Dpt	G	A	1: 164,796,939	D70N	probably damaging	Het
Elk4	C	A	1: 132,019,369	P366Q	probably damaging	Het
Eml4	A	C	17: 83,425,311	D131A	probably benign	Het
Faap24	A	G	7: 35,392,871	I207T	possibly damaging	Het
Fam198b	T	C	3: 79,886,548	Y108H	probably damaging	Het
Fam219a	T	C	4: 41,521,925	S41G	probably benign	Het
Gm15448	T	A	7: 3,821,262	K629*	probably null	Het
Ifi203	T	C	1: 173,928,385		probably benign	Het
Inpp4a	T	C	1: 37,369,423	V295A	probably benign	Het
Kif2a	A	G	13: 106,982,594	Y267H	probably damaging	Het
Kprp	T	A	3: 92,825,197	Q182L	probably benign	Het
Lrp2	T	A	2: 69,483,028	Y2453F	possibly damaging	Het
Magel2	A	C	7: 62,379,787	Y813S	unknown	Het
Myh7	C	A	14: 54,974,644	E1548*	probably null	Het
Myh8	A	G	11: 67,297,539	T1009A	probably benign	Het
Nab2	T	A	10: 127,666,508		probably benign	Het
Neb	T	C	2: 52,296,273	D929G	possibly damaging	Het
Nelfb	A	C	2: 25,210,493	V155G	probably damaging	Het
Nmur1	C	A	1: 86,387,848	M65I	possibly damaging	Het
Nop56	C	T	2: 130,277,881	R81*	probably null	Het
Npnt	C	T	3: 132,908,396	C47Y	probably damaging	Het
Nrp1	G	T	8: 128,480,954	C610F	probably damaging	Het
Olfr1175-ps	T	C	2: 88,323,262	K148E	probably damaging	Het
Olfr1243	T	A	2: 89,527,604	I269F	probably damaging	Het
Olfr766-ps1	T	A	10: 129,064,675	M1L	probably benign	Het
Pax5	G	A	4: 44,679,501	Q93*	probably null	Het
Pcnt	G	T	10: 76,403,835	Q1273K	probably damaging	Het
Pde4dip	G	A	3: 97,724,183	Q1137*	probably null	Het
Pfas	A	T	11: 68,990,760	D959E	probably benign	Het
Prex1	TCCGACCCC	TCCGACCCCGACCCC	2: 166,613,187		probably benign	Het
Prpf40b	C	T	15: 99,306,400	Q182*	probably null	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Rpe65	A	C	3: 159,622,685	E406A	probably damaging	Het
Serpina3k	A	T	12: 104,341,142	Y211F	probably benign	Het
Shkbp1	T	C	7: 27,355,281	I65V	possibly damaging	Het
Slc22a29	G	A	19: 8,160,580	P544S	probably benign	Het
Stab2	T	C	10: 86,850,837	D2281G	probably damaging	Het
Tjp2	A	G	19: 24,132,688	M64T	probably benign	Het
Tnfrsf8	C	T	4: 145,274,403	V378I	possibly damaging	Het
Trpm1	A	T	7: 64,226,714		probably null	Het
Ubqln3	A	G	7: 104,141,275	I536T	probably benign	Het
Vmn1r44	A	G	6: 89,893,754	T161A	possibly damaging	Het
Vmn2r108	T	A	17: 20,471,083	I393F	possibly damaging	Het

Other mutations in Krt90

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0243:Krt90	UTSW	15	101562675	missense	possibly damaging	0.78
R0732:Krt90	UTSW	15	101560425	missense	possibly damaging	0.60
R1036:Krt90	UTSW	15	101562716	missense	probably benign	0.05
R1616:Krt90	UTSW	15	101560591	missense	possibly damaging	0.46
R1750:Krt90	UTSW	15	101553365	unclassified	probably benign
R1919:Krt90	UTSW	15	101557230	missense	probably damaging	1.00
R2063:Krt90	UTSW	15	101558359	missense	probably benign	0.07
R2107:Krt90	UTSW	15	101562629	missense	probably benign	0.06
R2155:Krt90	UTSW	15	101562611	missense	probably benign	0.00
R2404:Krt90	UTSW	15	101554670	critical splice donor site	probably null
R3412:Krt90	UTSW	15	101560593	missense	probably damaging	1.00
R3910:Krt90	UTSW	15	101562783	missense	probably damaging	1.00
R3911:Krt90	UTSW	15	101562783	missense	probably damaging	1.00
R3913:Krt90	UTSW	15	101562783	missense	probably damaging	1.00
R4476:Krt90	UTSW	15	101557283	missense	probably damaging	1.00
R4748:Krt90	UTSW	15	101555333	missense	probably damaging	1.00
R4918:Krt90	UTSW	15	101562479	missense	possibly damaging	0.47
R5883:Krt90	UTSW	15	101553219	unclassified	probably benign
R6416:Krt90	UTSW	15	101559244	missense	probably benign	0.12
R6674:Krt90	UTSW	15	101557326	missense	probably damaging	0.99
R7514:Krt90	UTSW	15	101553170	missense	unknown
R7915:Krt90	UTSW	15	101558403	splice site	probably null
R8307:Krt90	UTSW	15	101559199	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGCTTTGGAGGTATATGTCATCTG -3'
(R):5'- ATCACAGGAGCTGGCTCAAC -3'

Sequencing Primer
(F):5'- AAGGAGACCTGGCATTTTTGC -3'
(R):5'- ACTTCAGGCTCAAATCTCTGAG -3'

Posted On

2019-05-13