Mutagenetix > Incidental Mutation

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

045049-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R6934 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99676026-99677083 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 99676708 bp (GRCm39)

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]

AlphaFold

B1AQA9

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: 122,266,712 (GRCm39)	Y58F	probably benign	Het
Asap2	T	C	12: 21,218,251 (GRCm39)	V58A	probably damaging	Het
Bccip	A	G	7: 133,322,520 (GRCm39)	M289V	probably benign	Het
Bhmt2	A	T	13: 93,798,819 (GRCm39)	I334N	probably benign	Het
Copa	T	A	1: 171,938,253 (GRCm39)	I513N	possibly damaging	Het
Cspg4b	T	C	13: 113,505,800 (GRCm39)	S2310P	probably benign	Het
Ctif	G	A	18: 75,568,431 (GRCm39)	T569M	probably benign	Het
Dennd1a	A	T	2: 37,691,225 (GRCm39)	M231K	possibly damaging	Het
Dnah3	A	G	7: 119,653,824 (GRCm39)		probably null	Het
Fat3	T	C	9: 16,288,252 (GRCm39)	I424V	probably damaging	Het
Foxred2	G	T	15: 77,836,530 (GRCm39)	C328*	probably null	Het
Gemin5	A	T	11: 58,038,738 (GRCm39)	H590Q	probably damaging	Het
Gm5475	T	C	15: 100,325,007 (GRCm39)		probably benign	Het
Gmip	A	G	8: 70,273,576 (GRCm39)	T956A	probably benign	Het
Hmbox1	A	T	14: 65,134,281 (GRCm39)	D106E	probably benign	Het
Irs2	A	T	8: 11,054,697 (GRCm39)	I1245N	probably damaging	Het
Kcnk1	A	G	8: 126,752,129 (GRCm39)	Y245C	probably damaging	Het
Lama1	A	G	17: 68,081,538 (GRCm39)	D1325G	probably benign	Het
Lyz3	C	T	10: 117,074,413 (GRCm39)	D25N	probably benign	Het
Mep1a	A	T	17: 43,793,121 (GRCm39)	V361E	probably damaging	Het
Mrgprx2	A	G	7: 48,131,813 (GRCm39)	I92T	possibly damaging	Het
Nup214	A	T	2: 31,872,683 (GRCm39)	R242*	probably null	Het
Nynrin	T	G	14: 56,101,335 (GRCm39)	S335A	probably benign	Het
Or13a24	T	G	7: 140,154,564 (GRCm39)	L166R	probably damaging	Het
Or5p60	A	G	7: 107,724,026 (GRCm39)	V148A	probably benign	Het
Or8b1c	T	G	9: 38,384,472 (GRCm39)	I143S	probably benign	Het
Orc2	T	C	1: 58,539,523 (GRCm39)	K39E	probably benign	Het
Ppl	C	T	16: 4,912,373 (GRCm39)	G736D	probably benign	Het
Ppp2r1a	A	G	17: 21,181,895 (GRCm39)	E471G	possibly damaging	Het
Prrc2c	G	A	1: 162,548,074 (GRCm39)	P161S	probably benign	Het
Rnf213	A	G	11: 119,310,893 (GRCm39)	I804V	probably benign	Het
Saal1	A	G	7: 46,352,088 (GRCm39)	C144R	probably benign	Het
Slc29a4	G	A	5: 142,698,713 (GRCm39)	V125I	probably benign	Het
Smarcc2	A	G	10: 128,305,541 (GRCm39)	T322A	probably benign	Het
Srgap2	A	T	1: 131,244,969 (GRCm39)	M591K	possibly damaging	Het
Stard9	A	G	2: 120,528,176 (GRCm39)	I1478V	probably benign	Het
Tet2	A	G	3: 133,188,998 (GRCm39)		probably null	Het
Tmem150c	C	T	5: 100,243,465 (GRCm39)		probably null	Het
Tmem39b	T	A	4: 129,572,366 (GRCm39)	H412L	possibly damaging	Het
Tox	A	C	4: 6,697,635 (GRCm39)	H389Q	probably damaging	Het
Trank1	T	C	9: 111,202,158 (GRCm39)	I1595T	probably damaging	Het
Vmn2r-ps117	T	G	17: 19,044,967 (GRCm39)	Y461*	probably null	Het
Vps13a	T	C	19: 16,653,558 (GRCm39)	H1941R	probably damaging	Het

Other mutations in Krtap4-9

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01949:Krtap4-9	APN	11	99,676,391 (GRCm39)	unclassified	probably benign
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
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

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