Mutagenetix > Incidental Mutations

Incidental Mutation 'R6934:Krtap4-9'

540213

Institutional Source

Beutler Lab

Gene Symbol

Krtap4-9

Ensembl Gene

ENSMUSG00000078262

Gene Name

keratin associated protein 4-9

Synonyms

OTTMUSG00000002198

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R6934 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99785200-99786258 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 99785882 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 210 (R210*)

Ref Sequence

ENSEMBL: ENSMUSP00000100680 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000105059
AA Change: R210*

SMART Domains

Protein: ENSMUSP00000100680
Gene: ENSMUSG00000078262
AA Change: R210*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B08Rik	T	A	8: 121,539,973	Y58F	probably benign	Het
9530003J23Rik	C	T	10: 117,238,508	D25N	probably benign	Het
Asap2	T	C	12: 21,168,250	V58A	probably damaging	Het
BC067074	T	C	13: 113,369,266	S2310P	probably benign	Het
Bccip	A	G	7: 133,720,791	M289V	probably benign	Het
Bhmt2	A	T	13: 93,662,311	I334N	probably benign	Het
Copa	T	A	1: 172,110,686	I513N	possibly damaging	Het
Ctif	G	A	18: 75,435,360	T569M	probably benign	Het
Dennd1a	A	T	2: 37,801,213	M231K	possibly damaging	Het
Dnah3	A	G	7: 120,054,601		probably null	Het
Fat3	T	C	9: 16,376,956	I424V	probably damaging	Het
Foxred2	G	T	15: 77,952,330	C328*	probably null	Het
Gemin5	A	T	11: 58,147,912	H590Q	probably damaging	Het
Gm5475	T	C	15: 100,427,126		probably benign	Het
Gmip	A	G	8: 69,820,926	T956A	probably benign	Het
Hmbox1	A	T	14: 64,896,832	D106E	probably benign	Het
Irs2	A	T	8: 11,004,697	I1245N	probably damaging	Het
Kcnk1	A	G	8: 126,025,390	Y245C	probably damaging	Het
Lama1	A	G	17: 67,774,543	D1325G	probably benign	Het
Mep1a	A	T	17: 43,482,230	V361E	probably damaging	Het
Mrgprx2	A	G	7: 48,482,065	I92T	possibly damaging	Het
Nup214	A	T	2: 31,982,671	R242*	probably null	Het
Nynrin	T	G	14: 55,863,878	S335A	probably benign	Het
Olfr484	A	G	7: 108,124,819	V148A	probably benign	Het
Olfr538	T	G	7: 140,574,651	L166R	probably damaging	Het
Olfr905	T	G	9: 38,473,176	I143S	probably benign	Het
Orc2	T	C	1: 58,500,364	K39E	probably benign	Het
Ppl	C	T	16: 5,094,509	G736D	probably benign	Het
Ppp2r1a	A	G	17: 20,961,633	E471G	possibly damaging	Het
Prrc2c	G	A	1: 162,720,505	P161S	probably benign	Het
Rnf213	A	G	11: 119,420,067	I804V	probably benign	Het
Saal1	A	G	7: 46,702,664	C144R	probably benign	Het
Slc29a4	G	A	5: 142,712,958	V125I	probably benign	Het
Smarcc2	A	G	10: 128,469,672	T322A	probably benign	Het
Srgap2	A	T	1: 131,317,231	M591K	possibly damaging	Het
Stard9	A	G	2: 120,697,695	I1478V	probably benign	Het
Tet2	A	G	3: 133,483,237		probably null	Het
Tmem150c	C	T	5: 100,095,606		probably null	Het
Tmem39b	T	A	4: 129,678,573	H412L	possibly damaging	Het
Tox	A	C	4: 6,697,635	H389Q	probably damaging	Het
Trank1	T	C	9: 111,373,090	I1595T	probably damaging	Het
Vmn2r-ps117	T	G	17: 18,824,705	Y461*	probably null	Het
Vps13a	T	C	19: 16,676,194	H1941R	probably damaging	Het

Other mutations in Krtap4-9

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01949:Krtap4-9	APN	11	99785565	unclassified	probably benign
IGL02697:Krtap4-9	APN	11	99785748	missense	unknown
IGL03176:Krtap4-9	APN	11	99785280	unclassified	probably benign
R0988:Krtap4-9	UTSW	11	99785536	nonsense	probably null
R1773:Krtap4-9	UTSW	11	99785570	unclassified	probably benign
R1838:Krtap4-9	UTSW	11	99785396	unclassified	probably benign
R2566:Krtap4-9	UTSW	11	99785666	unclassified	probably benign
R2888:Krtap4-9	UTSW	11	99785419	nonsense	probably null
R3757:Krtap4-9	UTSW	11	99785618	unclassified	probably benign
R4633:Krtap4-9	UTSW	11	99785554	unclassified	probably benign
R5930:Krtap4-9	UTSW	11	99785636	unclassified	probably benign
R6092:Krtap4-9	UTSW	11	99785655	unclassified	probably benign
R6501:Krtap4-9	UTSW	11	99785429	unclassified	probably benign
R7131:Krtap4-9	UTSW	11	99785457	missense	unknown
RF017:Krtap4-9	UTSW	11	99785399	unclassified	probably benign
RF023:Krtap4-9	UTSW	11	99785391	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCTGCTGTGGATCTAGCTG -3'
(R):5'- GTGGGCTTGCATTCACATATGG -3'

Sequencing Primer
(F):5'- CTGTGGATCTAGCTGCTGCC -3'
(R):5'- CATATGGTCTACATCAGGAATGCTGG -3'

Posted On

2018-11-06