Mutagenetix > Incidental Mutation

Incidental Mutation 'R6529:Krtap5-3'

522194

Institutional Source

Beutler Lab

Gene Symbol

Krtap5-3

Ensembl Gene

ENSMUSG00000046248

Gene Name

keratin associated protein 5-3

Synonyms

A030007E19Rik

MMRRC Submission

044655-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R6529 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141755101-141756752 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 141756079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 305 (C305*)

Ref Sequence

ENSEMBL: ENSMUSP00000141116 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084414] [ENSMUST00000187512]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000084414

SMART Domains

Protein: ENSMUSP00000081451
Gene: ENSMUSG00000046248

Domain	Start	End	E-Value	Type
low complexity region	2	126	N/A	INTRINSIC
low complexity region	127	174	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000187512
AA Change: C305*

SMART Domains

Protein: ENSMUSP00000141116
Gene: ENSMUSG00000046248
AA Change: C305*

Domain	Start	End	E-Value	Type
low complexity region	2	356	N/A	INTRINSIC

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.6%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	T	7: 78,739,479 (GRCm39)	M296L	probably benign	Het
Atxn2	T	C	5: 121,949,677 (GRCm39)		probably null	Het
B3galnt2	G	T	13: 14,170,377 (GRCm39)	R242S	probably benign	Het
Bltp3a	A	G	17: 28,098,750 (GRCm39)	I218M	possibly damaging	Het
Casz1	G	A	4: 149,022,646 (GRCm39)	E571K	probably damaging	Het
Ccdc163	A	G	4: 116,566,121 (GRCm39)		probably null	Het
Cd109	A	G	9: 78,619,907 (GRCm39)	D1383G	probably damaging	Het
Cd200r1	A	G	16: 44,610,065 (GRCm39)	T95A	possibly damaging	Het
Chd2	T	C	7: 73,153,191 (GRCm39)	E219G	possibly damaging	Het
Cibar1	A	G	4: 12,168,978 (GRCm39)	V175A	probably damaging	Het
Dnah14	T	A	1: 181,494,034 (GRCm39)	V1730D	probably damaging	Het
Eps8	G	A	6: 137,491,335 (GRCm39)	H348Y	possibly damaging	Het
Fbxo2	A	T	4: 148,249,511 (GRCm39)	D187V	probably damaging	Het
Fsip2	A	T	2: 82,812,657 (GRCm39)	Y2992F	probably benign	Het
Gle1	A	T	2: 29,825,539 (GRCm39)	T10S	possibly damaging	Het
Got2	T	C	8: 96,615,013 (GRCm39)		probably benign	Het
Gtf3c6	T	C	10: 40,127,251 (GRCm39)	T34A	probably benign	Het
H4c11	G	T	13: 21,919,476 (GRCm39)	V71F	possibly damaging	Het
Klf15	C	T	6: 90,444,394 (GRCm39)	T323I	probably damaging	Het
Map2k6	A	T	11: 110,383,388 (GRCm39)	D99V	probably damaging	Het
Nckap5l	G	T	15: 99,324,475 (GRCm39)	P676Q	probably benign	Het
Nup188	A	T	2: 30,216,466 (GRCm39)	T757S	possibly damaging	Het
Or10ak13	C	T	4: 118,638,907 (GRCm39)	V292I	probably benign	Het
Or51q1c	T	C	7: 103,653,133 (GRCm39)	V217A	probably benign	Het
Peg3	C	A	7: 6,711,071 (GRCm39)	A1384S	probably damaging	Het
Plekho2	C	T	9: 65,480,383 (GRCm39)	R14H	probably benign	Het
Qsox2	A	T	2: 26,107,753 (GRCm39)	C247S	probably damaging	Het
Slc25a13	A	G	6: 6,073,451 (GRCm39)	V469A	probably benign	Het
Slitrk3	T	C	3: 72,958,551 (GRCm39)	T74A	probably benign	Het
Spmip7	T	C	11: 11,465,009 (GRCm39)	F120S	possibly damaging	Het
Sult1a1	T	C	7: 126,274,310 (GRCm39)	T91A	probably benign	Het
Sult3a2	T	C	10: 33,655,733 (GRCm39)	Y82C	probably damaging	Het
Taf1b	A	T	12: 24,606,650 (GRCm39)	H490L	possibly damaging	Het
Trrap	T	A	5: 144,771,014 (GRCm39)	H2804Q	probably benign	Het
Usp8	A	G	2: 126,567,298 (GRCm39)	I106V	probably benign	Het
Wdcp	T	A	12: 4,901,143 (GRCm39)	V333D	probably damaging	Het
Wdr46	T	A	17: 34,168,120 (GRCm39)	L564Q	possibly damaging	Het
Wrn	T	C	8: 33,826,004 (GRCm39)		probably null	Het
Zfp664	C	T	5: 124,963,352 (GRCm39)	H249Y	probably damaging	Het
Zfp975	A	C	7: 42,311,325 (GRCm39)	H429Q	possibly damaging	Het

Other mutations in Krtap5-3

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL00328:Krtap5-3	APN	7	141,755,612 (GRCm39)	intron	probably benign
IGL00341:Krtap5-3	APN	7	141,755,612 (GRCm39)	intron	probably benign
IGL02170:Krtap5-3	APN	7	141,756,215 (GRCm39)	missense	unknown
IGL03137:Krtap5-3	APN	7	141,755,946 (GRCm39)	intron	probably benign
R1888:Krtap5-3	UTSW	7	141,755,979 (GRCm39)	intron	probably benign
R1888:Krtap5-3	UTSW	7	141,755,979 (GRCm39)	intron	probably benign
R5215:Krtap5-3	UTSW	7	141,755,974 (GRCm39)	nonsense	probably null
R6081:Krtap5-3	UTSW	7	141,755,223 (GRCm39)	missense	unknown
R7102:Krtap5-3	UTSW	7	141,755,992 (GRCm39)	nonsense	probably null
R7528:Krtap5-3	UTSW	7	141,755,219 (GRCm39)	missense	unknown
R7531:Krtap5-3	UTSW	7	141,755,942 (GRCm39)	missense	unknown
R8270:Krtap5-3	UTSW	7	141,755,693 (GRCm39)	missense	unknown
R8331:Krtap5-3	UTSW	7	141,755,563 (GRCm39)	nonsense	probably null
R8552:Krtap5-3	UTSW	7	141,756,089 (GRCm39)	intron	probably benign
R8998:Krtap5-3	UTSW	7	141,755,933 (GRCm39)	missense	unknown
R9299:Krtap5-3	UTSW	7	141,756,267 (GRCm39)	missense	unknown
R9337:Krtap5-3	UTSW	7	141,756,267 (GRCm39)	missense	unknown
R9484:Krtap5-3	UTSW	7	141,756,068 (GRCm39)	missense	unknown
Z1177:Krtap5-3	UTSW	7	141,755,790 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AAGGGAGGCTGTAGTTCCTG -3'
(R):5'- CATTGGACAGCATGAAGACCC -3'

Sequencing Primer
(F):5'- CTGTGGAGGCTGTGGCAC -3'
(R):5'- ACCCACAGTCATGGAGGAGC -3'

Posted On

2018-06-06