Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02524:Krtap26-1'

296979

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krtap26-1

Ensembl Gene

ENSMUSG00000071471

Gene Name

keratin associated protein 26-1

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

IGL02524

Quality Score

Status

Chromosome

Chromosomal Location

88646824-88647796 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88647479 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 85 (S85P)

Ref Sequence

ENSEMBL: ENSMUSP00000093626 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095934]

AlphaFold

Q9D7N2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095934
AA Change: S85P

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000093626
Gene: ENSMUSG00000071471
AA Change: S85P

Domain	Start	End	E-Value	Type
Pfam:PMG	4	213	2.9e-65	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415O20Rik	G	A	15: 98,571,125		probably null	Het
Abca8a	A	G	11: 110,078,815		probably benign	Het
Acvr1	T	C	2: 58,448,307		probably benign	Het
Asap3	A	T	4: 136,238,616	T453S	probably damaging	Het
Ccdc110	C	T	8: 45,941,942	P290L	probably benign	Het
Ccdc127	A	G	13: 74,352,897	N11S	probably damaging	Het
Cd80	T	C	16: 38,482,683	V164A	probably benign	Het
Ctnna3	T	C	10: 64,260,826	I381T	possibly damaging	Het
Epha7	A	T	4: 28,821,494	T220S	possibly damaging	Het
Etnppl	A	G	3: 130,630,671		probably benign	Het
Far2	T	A	6: 148,150,658	L145Q	probably damaging	Het
Fdxr	A	G	11: 115,271,260		probably null	Het
Jmy	A	G	13: 93,472,760	V347A	probably damaging	Het
Kcns2	A	G	15: 34,838,835	I115V	probably benign	Het
Kif2a	A	G	13: 106,964,355	L627S	possibly damaging	Het
Ldlr	C	A	9: 21,733,681	D168E	probably damaging	Het
Lrrc8e	T	G	8: 4,235,392	L539R	probably damaging	Het
Mmp8	A	G	9: 7,560,505	E61G	probably damaging	Het
Msh2	T	C	17: 87,678,357	F121L	probably benign	Het
Myh4	A	G	11: 67,249,240	K638E	possibly damaging	Het
Ndufaf6	A	G	4: 11,059,091	F246S	probably benign	Het
Nynrin	C	T	14: 55,871,474	A1346V	possibly damaging	Het
Olfr1055	A	C	2: 86,347,342	C141W	probably damaging	Het
P2rx1	C	T	11: 73,009,648	P196L	probably damaging	Het
Pbx3	T	C	2: 34,370,818		probably benign	Het
Psen2	A	T	1: 180,245,667	S30T	probably benign	Het
Rack1	T	C	11: 48,803,471	V166A	probably benign	Het
Rpgrip1	A	G	14: 52,121,054	T206A	probably benign	Het
Rrp7a	A	G	15: 83,118,178		probably benign	Het
Slco1b2	C	T	6: 141,671,072	T377I	probably benign	Het
Sult2a6	A	T	7: 14,236,686	S162T	possibly damaging	Het
Syt2	A	G	1: 134,741,965	K115E	probably benign	Het
Tet1	A	G	10: 62,878,646	S457P	probably damaging	Het
Trbv3	A	G	6: 41,048,665	E63G	possibly damaging	Het
Unc13d	T	C	11: 116,070,319	Y404C	probably damaging	Het
Usp32	G	A	11: 85,010,011	R1128*	probably null	Het
Vps4a	G	A	8: 107,036,751		probably benign	Het
Ythdc2	T	A	18: 44,847,854	H505Q	probably damaging	Het
Ywhab	T	A	2: 164,016,137	L208Q	probably damaging	Het
Zfyve16	T	C	13: 92,504,514	K1241E	probably benign	Het

Other mutations in Krtap26-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00886:Krtap26-1	APN	16	88647379	missense	possibly damaging	0.62
IGL01721:Krtap26-1	APN	16	88647172	missense	probably damaging	1.00
IGL01963:Krtap26-1	APN	16	88647668	missense	probably damaging	1.00
R0383:Krtap26-1	UTSW	16	88647243	nonsense	probably null
R2367:Krtap26-1	UTSW	16	88647325	missense	probably benign	0.28
R4694:Krtap26-1	UTSW	16	88647220	missense	possibly damaging	0.70
R6699:Krtap26-1	UTSW	16	88647715	missense	unknown
R6884:Krtap26-1	UTSW	16	88647579	missense	probably damaging	1.00
R7299:Krtap26-1	UTSW	16	88647244	missense	possibly damaging	0.49
R7808:Krtap26-1	UTSW	16	88647310	missense	not run
R8824:Krtap26-1	UTSW	16	88647415	missense	probably damaging	1.00
R8824:Krtap26-1	UTSW	16	88647436	missense	probably damaging	0.99
R9034:Krtap26-1	UTSW	16	88647273	missense	probably benign	0.14
R9186:Krtap26-1	UTSW	16	88647721	missense	unknown
R9279:Krtap26-1	UTSW	16	88647454	missense	probably benign	0.00

Posted On

2015-04-16