Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01656:Krt90'

103004

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 #

IGL01656

Quality Score

Status

Chromosome

Chromosomal Location

101460791-101471385 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101463878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 392 (Q392L)

Ref Sequence

ENSEMBL: ENSMUSP00000023714 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023713] [ENSMUST00000023714]

AlphaFold

E9Q1Z0

Predicted Effect

probably benign
Transcript: ENSMUST00000023713

SMART Domains

Protein: ENSMUSP00000023713
Gene: ENSMUSG00000049548

Domain	Start	End	E-Value	Type
low complexity region	38	57	N/A	INTRINSIC
Pfam:Keratin_2_head	61	114	6.1e-13	PFAM
Filament	117	428	1.32e-153	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000023714
AA Change: Q392L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000023714
Gene: ENSMUSG00000048699
AA Change: Q392L

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

noncoding transcript
Transcript: ENSMUST00000197418

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	A	C	6: 125,030,675 (GRCm39)	E232A	possibly damaging	Het
Anapc11	T	A	11: 120,490,173 (GRCm39)	F30I	possibly damaging	Het
Ap5z1	A	G	5: 142,456,069 (GRCm39)	D318G	probably benign	Het
Cfap43	T	C	19: 47,740,339 (GRCm39)	E1278G	possibly damaging	Het
Cylc1	A	G	X: 110,167,485 (GRCm39)	T589A	probably benign	Het
Dcaf15	T	C	8: 84,824,617 (GRCm39)	I527V	probably benign	Het
Ddhd2	C	T	8: 26,217,739 (GRCm39)	V713I	probably benign	Het
Edc4	T	C	8: 106,613,009 (GRCm39)	V283A	possibly damaging	Het
Elf5	A	G	2: 103,273,206 (GRCm39)		probably benign	Het
Flnb	C	T	14: 7,902,010 (GRCm38)		probably benign	Het
Flnc	C	T	6: 29,443,507 (GRCm39)		probably benign	Het
Fstl4	T	C	11: 52,891,201 (GRCm39)	L113P	probably damaging	Het
Gemin4	C	T	11: 76,104,636 (GRCm39)	V42M	probably damaging	Het
Gm10076	A	G	14: 105,919,354 (GRCm39)		noncoding transcript	Het
Grina	A	G	15: 76,132,501 (GRCm39)	Y116C	probably damaging	Het
Hectd4	T	A	5: 121,460,763 (GRCm39)	L914H	probably damaging	Het
Il17re	T	C	6: 113,439,934 (GRCm39)		probably benign	Het
Ivl	G	A	3: 92,478,962 (GRCm39)	Q368*	probably null	Het
Kbtbd8	A	G	6: 95,095,657 (GRCm39)	H73R	probably benign	Het
Magea3	A	T	X: 153,732,137 (GRCm39)	M122K	probably damaging	Het
Mapk8ip3	T	C	17: 25,137,003 (GRCm39)	D237G	probably damaging	Het
Nln	T	C	13: 104,198,249 (GRCm39)		probably null	Het
Nlrp4d	T	C	7: 10,098,074 (GRCm39)	Y853C	noncoding transcript	Het
Nol11	T	C	11: 107,079,998 (GRCm39)	D29G	probably benign	Het
Nr3c2	C	T	8: 77,914,166 (GRCm39)	L791F	probably damaging	Het
Nup50l	A	G	6: 96,142,675 (GRCm39)	V123A	possibly damaging	Het
Olfm3	T	C	3: 114,916,282 (GRCm39)	Y385H	probably damaging	Het
Or14j5	C	T	17: 38,162,029 (GRCm39)	P182L	possibly damaging	Het
Or51a8	A	G	7: 102,550,472 (GRCm39)	I299M	possibly damaging	Het
Or5b119	G	A	19: 13,457,454 (GRCm39)	A36V	probably benign	Het
Pklr	G	T	3: 89,052,302 (GRCm39)	G505C	probably damaging	Het
Plxna2	A	G	1: 194,472,469 (GRCm39)	E1071G	possibly damaging	Het
Prkcq	G	T	2: 11,231,766 (GRCm39)	A30S	probably damaging	Het
Rilpl1	A	G	5: 124,641,712 (GRCm39)	F104L	probably damaging	Het
Rsph6a	C	T	7: 18,788,770 (GRCm39)	T34I	probably benign	Het
Sec23ip	C	T	7: 128,351,969 (GRCm39)	P12L	probably damaging	Het
Slc25a21	A	C	12: 56,785,280 (GRCm39)	V199G	probably damaging	Het
Smc1b	T	C	15: 84,998,977 (GRCm39)	E483G	probably damaging	Het
Sucnr1	T	C	3: 59,993,832 (GRCm39)	M120T	possibly damaging	Het
Tas2r116	T	C	6: 132,832,396 (GRCm39)		probably benign	Het
Tbrg4	T	A	11: 6,568,522 (GRCm39)	Q419L	possibly damaging	Het
Tc2n	A	G	12: 101,615,348 (GRCm39)		probably benign	Het
Tgfbr2	A	C	9: 115,938,737 (GRCm39)	S388R	probably damaging	Het
Vmn2r1	A	G	3: 63,989,274 (GRCm39)	E71G	probably damaging	Het
Xpc	A	T	6: 91,482,449 (GRCm39)	I176K	probably damaging	Het
Xylt1	G	T	7: 117,148,228 (GRCm39)	R264L	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
IGL02064:Krt90	APN	15	101,471,088 (GRCm39)	missense	possibly damaging	0.54
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

2014-01-21