Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00232:Krtap13'

2096

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krtap13

Ensembl Gene

ENSMUSG00000050224

Gene Name

keratin associated protein 13

Synonyms

4C32

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL00232

Quality Score

Status

Chromosome

Chromosomal Location

88547632-88548516 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 88548423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 22 (S22A)

Ref Sequence

ENSEMBL: ENSMUSP00000061716 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053149]

AlphaFold

O88375

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053149
AA Change: S22A

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000061716
Gene: ENSMUSG00000050224
AA Change: S22A

Domain	Start	End	E-Value	Type
Pfam:PMG	1	77	5.1e-28	PFAM
Pfam:PMG	73	196	8.7e-35	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	C	A	15: 81,950,581 (GRCm39)	Q1493K	probably benign	Het
Anapc1	A	T	2: 128,487,050 (GRCm39)		probably benign	Het
Armc8	T	C	9: 99,387,787 (GRCm39)		probably null	Het
Asz1	T	G	6: 18,055,541 (GRCm39)		probably null	Het
Atp6v0a4	G	A	6: 38,069,725 (GRCm39)	R56*	probably null	Het
Bend6	T	C	1: 33,922,619 (GRCm39)	D8G	possibly damaging	Het
Ccdc171	T	A	4: 83,600,561 (GRCm39)	C870*	probably null	Het
Cd163	A	G	6: 124,306,060 (GRCm39)		probably benign	Het
Chd2	A	G	7: 73,118,325 (GRCm39)	S1098P	probably damaging	Het
Col6a5	T	G	9: 105,759,882 (GRCm39)	D1946A	probably damaging	Het
Gm6576	T	A	15: 27,025,884 (GRCm39)		noncoding transcript	Het
Gypa	T	G	8: 81,231,408 (GRCm39)		probably benign	Het
Ighv9-3	T	C	12: 114,104,691 (GRCm39)		probably benign	Het
Itgb1	T	G	8: 129,440,399 (GRCm39)		probably benign	Het
Kctd15	A	T	7: 34,350,170 (GRCm39)		probably null	Het
Masp1	C	T	16: 23,276,841 (GRCm39)	E555K	possibly damaging	Het
Med13l	T	A	5: 118,862,136 (GRCm39)	S360T	probably damaging	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mfsd13a	A	G	19: 46,354,958 (GRCm39)	Y45C	probably damaging	Het
Neb	T	C	2: 52,125,568 (GRCm39)	D3662G	possibly damaging	Het
Nkx6-1	T	C	5: 101,807,371 (GRCm39)	D337G	possibly damaging	Het
Nlrc5	T	C	8: 95,211,251 (GRCm39)		probably null	Het
Palb2	T	C	7: 121,720,287 (GRCm39)	H468R	probably damaging	Het
Plscr1l1	C	T	9: 92,233,005 (GRCm39)	R43*	probably null	Het
Rai1	T	G	11: 60,076,217 (GRCm39)	Y94D	probably damaging	Het
Slc27a3	A	T	3: 90,292,748 (GRCm39)	Y605*	probably null	Het
Sox4	C	A	13: 29,136,956 (GRCm39)	G17W	probably damaging	Het
Trpm7	T	C	2: 126,670,951 (GRCm39)	E677G	possibly damaging	Het
Tstd2	A	T	4: 46,120,002 (GRCm39)		probably benign	Het
Unc5c	T	C	3: 141,494,701 (GRCm39)	I412T	probably damaging	Het

Other mutations in Krtap13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2852:Krtap13	UTSW	16	88,548,524 (GRCm39)	unclassified	probably benign
R3948:Krtap13	UTSW	16	88,547,957 (GRCm39)	missense	possibly damaging	0.60
R5120:Krtap13	UTSW	16	88,548,458 (GRCm39)	missense	probably damaging	1.00
R6242:Krtap13	UTSW	16	88,548,384 (GRCm39)	missense	probably damaging	0.99
R6354:Krtap13	UTSW	16	88,548,131 (GRCm39)	missense	probably damaging	1.00

Posted On

2011-12-09