Mutagenetix > Incidental Mutation

Incidental Mutation 'R0038:Krtap9-5'

18586

Institutional Source

Beutler Lab

Gene Symbol

Krtap9-5

Ensembl Gene

ENSMUSG00000078255

Gene Name

keratin associated protein 9-5

Synonyms

OTTMUSG00000002205

MMRRC Submission

038332-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R0038 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

99839301-99840377 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 99839428 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 43 (C43Y)

Ref Sequence

ENSEMBL: ENSMUSP00000100673 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105052]

AlphaFold

A2A5X3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105052
AA Change: C43Y

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000100673
Gene: ENSMUSG00000078255
AA Change: C43Y

Domain	Start	End	E-Value	Type
internal_repeat_3	4	21	5.14e-6	PROSPERO
internal_repeat_2	5	26	9e-8	PROSPERO
low complexity region	37	48	N/A	INTRINSIC
Pfam:Keratin_B2_2	52	94	2.7e-9	PFAM
Pfam:Keratin_B2_2	75	128	2e-5	PFAM
Pfam:Keratin_B2_2	125	169	1.7e-9	PFAM
Pfam:Keratin_B2_2	198	245	6.7e-9	PFAM
Pfam:Keratin_B2_2	241	288	1.1e-8	PFAM
Pfam:Keratin_B2_2	284	317	5.6e-7	PFAM
Pfam:Keratin_B2_2	313	357	1.5e-5	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 83.6%
3x: 76.1%
10x: 58.6%
20x: 40.4%

Validation Efficiency

91% (67/74)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agfg1	T	C	1: 82,863,823 (GRCm39)		probably benign	Het
Ahnak2	T	C	12: 112,740,896 (GRCm39)	T253A	probably benign	Het
Ankrd28	A	T	14: 31,429,992 (GRCm39)	M892K	probably damaging	Het
Arhgef25	T	C	10: 127,022,734 (GRCm39)		probably benign	Het
Cldn8	A	G	16: 88,359,922 (GRCm39)	M1T	probably null	Het
Clec11a	A	G	7: 43,955,906 (GRCm39)		probably benign	Het
Ddx39a	T	C	8: 84,449,127 (GRCm39)	L305P	probably damaging	Het
Depdc5	A	G	5: 33,026,197 (GRCm39)	E60G	probably benign	Het
Etl4	A	T	2: 20,748,385 (GRCm39)	H39L	probably damaging	Het
Gramd1b	G	A	9: 40,228,822 (GRCm39)	T252M	probably damaging	Het
Hcrtr2	A	T	9: 76,166,963 (GRCm39)	S125T	probably benign	Het
Htr2a	T	G	14: 74,943,687 (GRCm39)	S422R	probably benign	Het
Kirrel3	T	A	9: 34,823,066 (GRCm39)		probably null	Het
Lama2	T	C	10: 26,862,793 (GRCm39)	D2990G	probably benign	Het
Ncor1	A	G	11: 62,283,377 (GRCm39)	F437L	probably damaging	Het
Nlrp1b	A	G	11: 71,062,997 (GRCm39)	S685P	possibly damaging	Het
Oog4	T	C	4: 143,165,514 (GRCm39)	D211G	probably benign	Het
Pcdh15	A	T	10: 74,479,272 (GRCm39)	E723V	possibly damaging	Het
Pgm3	A	T	9: 86,446,726 (GRCm39)		probably benign	Het
Pnpla5	A	G	15: 84,006,714 (GRCm39)	Y90H	probably damaging	Het
Polr1b	C	T	2: 128,957,588 (GRCm39)	R548*	probably null	Het
Rnf168	T	C	16: 32,117,813 (GRCm39)	V458A	probably benign	Het
Rnf32	T	C	5: 29,410,652 (GRCm39)		probably benign	Het
Sclt1	T	C	3: 41,583,943 (GRCm39)		probably benign	Het
Serpina12	A	G	12: 104,004,216 (GRCm39)	F139L	probably damaging	Het
Stag3	T	A	5: 138,299,298 (GRCm39)		probably null	Het
Stard5	T	C	7: 83,285,951 (GRCm39)		probably benign	Het
Suclg1	A	G	6: 73,237,486 (GRCm39)	E77G	probably benign	Het
Ush2a	G	T	1: 188,358,809 (GRCm39)	G2112C	probably benign	Het
Zfp644	T	G	5: 106,782,909 (GRCm39)	E1155A	probably benign	Het

Other mutations in Krtap9-5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00969:Krtap9-5	APN	11	99,839,291 (GRCm39)	unclassified	probably benign
IGL01105:Krtap9-5	APN	11	99,839,459 (GRCm39)	missense	unknown
IGL01673:Krtap9-5	APN	11	99,840,377 (GRCm39)	makesense	probably null
IGL02931:Krtap9-5	APN	11	99,839,931 (GRCm39)	missense	unknown
IGL03340:Krtap9-5	APN	11	99,839,427 (GRCm39)	missense	possibly damaging	0.86
R1067:Krtap9-5	UTSW	11	99,839,589 (GRCm39)	missense	unknown
R2051:Krtap9-5	UTSW	11	99,840,030 (GRCm39)	missense	unknown
R2102:Krtap9-5	UTSW	11	99,840,270 (GRCm39)	missense	unknown
R4689:Krtap9-5	UTSW	11	99,840,286 (GRCm39)	missense	unknown
R5076:Krtap9-5	UTSW	11	99,840,294 (GRCm39)	missense	unknown
R5807:Krtap9-5	UTSW	11	99,839,895 (GRCm39)	missense	unknown
R7468:Krtap9-5	UTSW	11	99,840,132 (GRCm39)	missense	unknown
R7485:Krtap9-5	UTSW	11	99,839,800 (GRCm39)	missense	unknown
R8876:Krtap9-5	UTSW	11	99,840,340 (GRCm39)	missense	unknown
R9727:Krtap9-5	UTSW	11	99,839,340 (GRCm39)	missense	possibly damaging	0.71
X0050:Krtap9-5	UTSW	11	99,839,767 (GRCm39)	missense	unknown

Posted On

2013-03-25