Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02064:Krt90'

185546

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krt90

Ensembl Gene

ENSMUSG00000048699

Gene Name

keratin 90

Synonyms

4732456N10Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02064

Quality Score

Status

Chromosome

Chromosomal Location

101460791-101471385 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101471088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 58 (H58R)

Ref Sequence

ENSEMBL: ENSMUSP00000023714 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023714] [ENSMUST00000042957]

AlphaFold

E9Q1Z0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023714
AA Change: H58R

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000023714
Gene: ENSMUSG00000048699
AA Change: H58R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000042957

SMART Domains

Protein: ENSMUSP00000036246
Gene: ENSMUSG00000022986

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	16	146	1e-32	PFAM
Filament	149	462	1.68e-178	SMART
low complexity region	468	527	N/A	INTRINSIC

Coding Region Coverage

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	C	3: 59,784,463 (GRCm39)	L312P	probably damaging	Het
Acap2	A	C	16: 30,946,146 (GRCm39)	W284G	probably damaging	Het
Acsf3	T	C	8: 123,506,986 (GRCm39)	L93P	possibly damaging	Het
Agbl2	G	T	2: 90,614,368 (GRCm39)		probably benign	Het
Arap3	C	T	18: 38,124,754 (GRCm39)	G242D	probably damaging	Het
Asxl3	G	A	18: 22,657,401 (GRCm39)	V1804I	possibly damaging	Het
Bnc1	C	A	7: 81,623,251 (GRCm39)	V659L	probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Car9	A	G	4: 43,507,363 (GRCm39)	E103G	probably benign	Het
Chrm4	A	G	2: 91,758,176 (GRCm39)	T195A	probably damaging	Het
Cldn10	T	C	14: 119,092,424 (GRCm39)	I8T	probably damaging	Het
Col12a1	G	A	9: 79,599,654 (GRCm39)	S833F	probably benign	Het
Cryba2	T	A	1: 74,929,720 (GRCm39)	D139V	possibly damaging	Het
Emp1	T	A	6: 135,354,210 (GRCm39)	M1K	probably null	Het
Entrep3	C	T	3: 89,095,903 (GRCm39)	R545*	probably null	Het
Exosc4	C	A	15: 76,213,836 (GRCm39)	A220E	probably damaging	Het
Fryl	A	G	5: 73,282,112 (GRCm39)		probably benign	Het
Grid2	C	T	6: 64,040,919 (GRCm39)	T287I	probably benign	Het
Grifin	C	T	5: 140,550,494 (GRCm39)	A7T	probably damaging	Het
Gzmg	T	C	14: 56,394,798 (GRCm39)	K157E	probably benign	Het
Kcnq2	A	T	2: 180,750,819 (GRCm39)	I340N	probably damaging	Het
Klrb1	T	A	6: 128,687,600 (GRCm39)	H98L	probably benign	Het
Krtap5-2	C	A	7: 141,729,468 (GRCm39)	G71C	unknown	Het
Krtap7-1	A	T	16: 89,305,011 (GRCm39)	M47K	probably benign	Het
Lmntd1	T	A	6: 145,373,002 (GRCm39)		probably null	Het
Ly6g2	A	G	15: 75,093,505 (GRCm39)		probably benign	Het
Musk	A	G	4: 58,286,128 (GRCm39)	N6S	possibly damaging	Het
Or2aj4	A	G	16: 19,385,298 (GRCm39)	C112R	probably damaging	Het
Or51a39	A	G	7: 102,362,808 (GRCm39)	F271L	probably damaging	Het
Or56a42-ps1	A	T	7: 104,776,241 (GRCm39)	F89Y	possibly damaging	Het
Or5p58	T	G	7: 107,694,454 (GRCm39)	T108P	probably benign	Het
Or8c15	T	A	9: 38,120,874 (GRCm39)	I122N	probably damaging	Het
Pcdh19	A	G	X: 132,586,719 (GRCm39)	M432T	probably benign	Het
Prdm1	A	G	10: 44,317,338 (GRCm39)	F495S	probably damaging	Het
Prkar2a	T	C	9: 108,610,403 (GRCm39)	Y211H	possibly damaging	Het
Ralgapa1	C	A	12: 55,754,862 (GRCm39)	G1143V	probably damaging	Het
Rbbp7	A	G	X: 161,552,783 (GRCm39)		probably null	Het
Scel	C	A	14: 103,770,762 (GRCm39)	H65Q	probably damaging	Het
Sec24d	T	C	3: 123,137,463 (GRCm39)		probably benign	Het
Sfswap	C	A	5: 129,637,860 (GRCm39)	T839N	probably benign	Het
Slc15a1	T	C	14: 121,699,911 (GRCm39)	I636V	possibly damaging	Het
Slc15a1	G	T	14: 121,699,886 (GRCm39)	P644H	probably benign	Het
Slc6a21	T	A	7: 44,935,883 (GRCm39)	I38N	possibly damaging	Het
Sucla2	C	T	14: 73,816,913 (GRCm39)	Q218*	probably null	Het
Tbc1d14	A	T	5: 36,665,019 (GRCm39)	L237*	probably null	Het
Trpm7	C	T	2: 126,639,863 (GRCm39)	E1578K	probably damaging	Het
Ttc17	G	A	2: 94,161,012 (GRCm39)	T896I	probably damaging	Het
Virma	A	G	4: 11,513,163 (GRCm39)	D339G	possibly damaging	Het
Vmn2r54	T	A	7: 12,349,533 (GRCm39)	Y683F	probably benign	Het
Xrra1	T	A	7: 99,563,411 (GRCm39)	L466Q	probably damaging	Het

Other mutations in Krt90

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01608:Krt90	APN	15	101,471,064 (GRCm39)	missense	probably benign	0.06
IGL01656:Krt90	APN	15	101,463,878 (GRCm39)	missense	probably damaging	1.00
R0243:Krt90	UTSW	15	101,471,110 (GRCm39)	missense	possibly damaging	0.78
R0732:Krt90	UTSW	15	101,468,860 (GRCm39)	missense	possibly damaging	0.60
R1036:Krt90	UTSW	15	101,471,151 (GRCm39)	missense	probably benign	0.05
R1616:Krt90	UTSW	15	101,469,026 (GRCm39)	missense	possibly damaging	0.46
R1750:Krt90	UTSW	15	101,461,800 (GRCm39)	unclassified	probably benign
R1919:Krt90	UTSW	15	101,465,665 (GRCm39)	missense	probably damaging	1.00
R2063:Krt90	UTSW	15	101,466,794 (GRCm39)	missense	probably benign	0.07
R2107:Krt90	UTSW	15	101,471,064 (GRCm39)	missense	probably benign	0.06
R2155:Krt90	UTSW	15	101,471,046 (GRCm39)	missense	probably benign	0.00
R2404:Krt90	UTSW	15	101,463,105 (GRCm39)	critical splice donor site	probably null
R3412:Krt90	UTSW	15	101,469,028 (GRCm39)	missense	probably damaging	1.00
R3910:Krt90	UTSW	15	101,471,218 (GRCm39)	missense	probably damaging	1.00
R3911:Krt90	UTSW	15	101,471,218 (GRCm39)	missense	probably damaging	1.00
R3913:Krt90	UTSW	15	101,471,218 (GRCm39)	missense	probably damaging	1.00
R4476:Krt90	UTSW	15	101,465,718 (GRCm39)	missense	probably damaging	1.00
R4748:Krt90	UTSW	15	101,463,768 (GRCm39)	missense	probably damaging	1.00
R4918:Krt90	UTSW	15	101,470,914 (GRCm39)	missense	possibly damaging	0.47
R5883:Krt90	UTSW	15	101,461,654 (GRCm39)	unclassified	probably benign
R6416:Krt90	UTSW	15	101,467,679 (GRCm39)	missense	probably benign	0.12
R6674:Krt90	UTSW	15	101,465,761 (GRCm39)	missense	probably damaging	0.99
R7025:Krt90	UTSW	15	101,465,610 (GRCm39)	missense	possibly damaging	0.81
R7514:Krt90	UTSW	15	101,461,605 (GRCm39)	missense	unknown
R7915:Krt90	UTSW	15	101,466,838 (GRCm39)	splice site	probably null
R8307:Krt90	UTSW	15	101,467,634 (GRCm39)	missense	probably damaging	1.00
R8756:Krt90	UTSW	15	101,470,779 (GRCm39)	critical splice donor site	probably null
R9011:Krt90	UTSW	15	101,471,235 (GRCm39)	missense	probably benign	0.17
R9355:Krt90	UTSW	15	101,461,714 (GRCm39)	missense	unknown

Posted On

2014-05-07