Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01949:Krtap4-9'

181002

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krtap4-9

Ensembl Gene

ENSMUSG00000078262

Gene Name

keratin associated protein 4-9

Synonyms

OTTMUSG00000002198

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

IGL01949

Quality Score

Status

Chromosome

Chromosomal Location

99676026-99677083 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 99676391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103063 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105059] [ENSMUST00000107439]

AlphaFold

B1AQA9

Predicted Effect

unknown
Transcript: ENSMUST00000105059
AA Change: C104Y

SMART Domains

Protein: ENSMUSP00000100680
Gene: ENSMUSG00000078262
AA Change: C104Y

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	47	1.2e-8	PFAM
Pfam:Keratin_B2_2	14	58	4.4e-13	PFAM
Pfam:Keratin_B2_2	54	102	3e-10	PFAM
Pfam:Keratin_B2_2	87	132	8.4e-12	PFAM
Pfam:Keratin_B2_2	98	147	3.4e-9	PFAM
Pfam:Keratin_B2_2	138	182	3.1e-12	PFAM
Pfam:Keratin_B2_2	178	222	4.8e-12	PFAM
Pfam:Keratin_B2_2	203	244	4.9e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107439

SMART Domains

Protein: ENSMUSP00000103063
Gene: ENSMUSG00000089724

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	14	58	1.8e-13	PFAM
Pfam:Keratin_B2_2	54	98	6.7e-15	PFAM
Pfam:Keratin_B2_2	94	138	9.5e-15	PFAM
Pfam:Keratin_B2_2	138	182	1.5e-12	PFAM
Pfam:Keratin_B2_2	168	209	8.2e-9	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	C	A	15: 94,223,987 (GRCm39)	R1247L	probably benign	Het
Atp2a3	T	A	11: 72,872,723 (GRCm39)	M757K	probably damaging	Het
Dusp5	T	C	19: 53,525,904 (GRCm39)	I182T	probably damaging	Het
Fuca1	T	A	4: 135,650,420 (GRCm39)		probably benign	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Hap1	G	T	11: 100,239,588 (GRCm39)	D610E	probably damaging	Het
Hoxa6	T	A	6: 52,183,511 (GRCm39)	Y178F	possibly damaging	Het
Ighmbp2	A	C	19: 3,315,538 (GRCm39)	D627E	probably benign	Het
Itgae	T	C	11: 73,009,010 (GRCm39)	I497T	probably benign	Het
Katnip	G	A	7: 125,361,014 (GRCm39)	W108*	probably null	Het
Kbtbd3	A	G	9: 4,331,066 (GRCm39)	D480G	possibly damaging	Het
Kmt2b	A	T	7: 30,276,586 (GRCm39)		probably null	Het
Krt5	T	A	15: 101,619,048 (GRCm39)	M278L	probably benign	Het
Myl12a	T	C	17: 71,303,709 (GRCm39)	D56G	probably benign	Het
Or2g25	T	C	17: 37,970,357 (GRCm39)	Y289C	probably damaging	Het
Pdgfra	C	A	5: 75,331,326 (GRCm39)	H310Q	probably damaging	Het
Pglyrp2	G	T	17: 32,635,080 (GRCm39)		probably null	Het
Polk	C	T	13: 96,620,046 (GRCm39)	S718N	probably benign	Het
Ppip5k1	T	A	2: 121,168,341 (GRCm39)	H687L	probably benign	Het
Pram1	A	T	17: 33,860,309 (GRCm39)	Q292L	probably damaging	Het
Prodh2	A	G	7: 30,209,190 (GRCm39)		probably null	Het
Rgs9	A	T	11: 109,150,660 (GRCm39)		probably null	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Stk-ps2	A	G	1: 46,069,148 (GRCm39)		noncoding transcript	Het
Svep1	C	T	4: 58,176,006 (GRCm39)	G298R	probably damaging	Het
Troap	T	C	15: 98,979,102 (GRCm39)	S341P	probably benign	Het
Ugt3a1	T	C	15: 9,335,815 (GRCm39)	F12S	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zfp236	G	T	18: 82,642,521 (GRCm39)	T1123K	probably damaging	Het

Other mutations in Krtap4-9

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02697:Krtap4-9	APN	11	99,676,574 (GRCm39)	missense	unknown
IGL03176:Krtap4-9	APN	11	99,676,106 (GRCm39)	unclassified	probably benign
R0988:Krtap4-9	UTSW	11	99,676,362 (GRCm39)	nonsense	probably null
R1773:Krtap4-9	UTSW	11	99,676,396 (GRCm39)	unclassified	probably benign
R1838:Krtap4-9	UTSW	11	99,676,222 (GRCm39)	unclassified	probably benign
R2566:Krtap4-9	UTSW	11	99,676,492 (GRCm39)	unclassified	probably benign
R2888:Krtap4-9	UTSW	11	99,676,245 (GRCm39)	nonsense	probably null
R3757:Krtap4-9	UTSW	11	99,676,444 (GRCm39)	unclassified	probably benign
R4633:Krtap4-9	UTSW	11	99,676,380 (GRCm39)	unclassified	probably benign
R5930:Krtap4-9	UTSW	11	99,676,462 (GRCm39)	unclassified	probably benign
R6092:Krtap4-9	UTSW	11	99,676,481 (GRCm39)	unclassified	probably benign
R6501:Krtap4-9	UTSW	11	99,676,255 (GRCm39)	unclassified	probably benign
R6934:Krtap4-9	UTSW	11	99,676,708 (GRCm39)	nonsense	probably null
R7131:Krtap4-9	UTSW	11	99,676,283 (GRCm39)	missense	unknown
R8809:Krtap4-9	UTSW	11	99,676,454 (GRCm39)	missense	unknown
RF017:Krtap4-9	UTSW	11	99,676,225 (GRCm39)	unclassified	probably benign
RF023:Krtap4-9	UTSW	11	99,676,217 (GRCm39)	unclassified	probably benign

Posted On

2014-05-07