Mutagenetix > Incidental Mutation

Incidental Mutation 'R1259:Krtap6-5'

151562

Institutional Source

Beutler Lab

Gene Symbol

Krtap6-5

Ensembl Gene

ENSMUSG00000062400

Gene Name

keratin associated protein 6-5

Synonyms

Krtap16-8, 1110002D05Rik

MMRRC Submission

039326-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R1259 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88844177-88844771 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88844607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 42 (R42H)

Ref Sequence

ENSEMBL: ENSMUSP00000074211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074637]

AlphaFold

Q925H3

Predicted Effect

unknown
Transcript: ENSMUST00000074637
AA Change: R42H

SMART Domains

Protein: ENSMUSP00000074211
Gene: ENSMUSG00000062400
AA Change: R42H

Domain	Start	End	E-Value	Type
Pfam:KRTAP	1	62	6.6e-8	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	A	8: 44,021,684 (GRCm39)	D602V	probably benign	Het
Adam26a	T	C	8: 44,021,750 (GRCm39)	D580G	possibly damaging	Het
B4galt6	T	G	18: 20,839,559 (GRCm39)	E125A	possibly damaging	Het
Dnm1l	A	G	16: 16,141,870 (GRCm39)	I292T	possibly damaging	Het
Elp3	A	T	14: 65,785,388 (GRCm39)	I471K	probably damaging	Het
Fbxw13	A	T	9: 109,014,439 (GRCm39)	V83E	probably damaging	Het
Gm5422	T	C	10: 31,125,111 (GRCm39)		noncoding transcript	Het
Lpcat2b	C	T	5: 107,581,763 (GRCm39)	A364V	probably damaging	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Lypd9	A	G	11: 58,338,296 (GRCm39)	I32T	probably benign	Het
Med7	C	G	11: 46,331,460 (GRCm39)	I18M	probably damaging	Het
Muc6	T	A	7: 141,226,464 (GRCm39)		probably benign	Het
Or8b42	T	A	9: 38,342,169 (GRCm39)	L197Q	probably damaging	Het
Or8k16	T	A	2: 85,519,875 (GRCm39)	I34N	probably damaging	Het
Pbrm1	T	C	14: 30,796,771 (GRCm39)	F871L	probably damaging	Het
Pgbd5	T	A	8: 125,097,324 (GRCm39)	D493V	probably damaging	Het
Pik3cd	G	A	4: 149,735,105 (GRCm39)	R1046*	probably null	Het
Pom121l2	G	A	13: 22,166,297 (GRCm39)	W189*	probably null	Het
Prex2	C	A	1: 11,359,494 (GRCm39)	N1567K	probably damaging	Het
Prl	A	G	13: 27,245,472 (GRCm39)		probably null	Het
Ptpro	T	C	6: 137,369,739 (GRCm39)	V517A	probably damaging	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Vmn2r12	T	A	5: 109,239,763 (GRCm39)	I267F	probably damaging	Het
Wasf3	T	C	5: 146,388,786 (GRCm39)	V80A	probably damaging	Het

Other mutations in Krtap6-5

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02377:Krtap6-5	APN	16	88,844,734 (GRCm39)	utr 5 prime	probably benign
IGL03375:Krtap6-5	APN	16	88,844,740 (GRCm39)	utr 5 prime	probably benign
IGL03378:Krtap6-5	APN	16	88,844,677 (GRCm39)	missense	unknown
R8972:Krtap6-5	UTSW	16	88,844,607 (GRCm39)	missense	unknown
R9221:Krtap6-5	UTSW	16	88,844,655 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCTCACATTCAAGGAGGTGAGAGTC -3'
(R):5'- ACATGAGCACATGGTGGGTTACAC -3'

Sequencing Primer
(F):5'- tagccacagccatagagaga -3'
(R):5'- GGTTACACCCTCAGTGAGACAG -3'

Posted On

2014-01-29