Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00714:Csta1'

9918

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Csta1

Ensembl Gene

ENSMUSG00000034362

Gene Name

cystatin A1

Synonyms

Csta

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

IGL00714

Quality Score

Status

Chromosome

Chromosomal Location

35940316-35951559 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35945369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 48 (V48A)

Ref Sequence

ENSEMBL: ENSMUSP00000093795 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096090] [ENSMUST00000161638]

AlphaFold

P56567

Predicted Effect

probably damaging
Transcript: ENSMUST00000096090
AA Change: V48A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000093795
Gene: ENSMUSG00000034362
AA Change: V48A

Domain	Start	End	E-Value	Type
CY	1	97	2.84e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161638

SMART Domains

Protein: ENSMUSP00000125577
Gene: ENSMUSG00000034362

Domain	Start	End	E-Value	Type
Blast:CY	1	63	2e-34	BLAST
PDB:3KSE\|F	1	63	2e-14	PDB
SCOP:d1stfi_	1	63	1e-31	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	A	C	7: 12,289,931 (GRCm39)		probably benign	Het
Casp8ap2	A	G	4: 32,649,192 (GRCm39)	Q1951R	probably damaging	Het
Cd22	T	C	7: 30,575,572 (GRCm39)	M157V	probably benign	Het
Fxr1	T	C	3: 34,101,776 (GRCm39)		probably benign	Het
Pcdh1	G	A	18: 38,331,782 (GRCm39)	T407I	possibly damaging	Het
Pcdha1	A	T	18: 37,065,228 (GRCm39)	T631S	probably damaging	Het
Sec23b	C	T	2: 144,401,145 (GRCm39)	A2V	probably benign	Het
Tbc1d2	A	G	4: 46,649,745 (GRCm39)	V97A	probably benign	Het
Ttll9	A	C	2: 152,826,180 (GRCm39)	E130A	probably damaging	Het
Zfp160	A	T	17: 21,246,964 (GRCm39)	T505S	probably benign	Het

Other mutations in Csta1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:Csta1	APN	16	35,945,421 (GRCm39)	missense	probably damaging	0.98
IGL03351:Csta1	APN	16	35,951,411 (GRCm39)	nonsense	probably null
R2059:Csta1	UTSW	16	35,942,692 (GRCm39)	missense	probably benign	0.34
R2234:Csta1	UTSW	16	35,945,445 (GRCm39)	missense	probably damaging	1.00
R2235:Csta1	UTSW	16	35,945,445 (GRCm39)	missense	probably damaging	1.00
R3895:Csta1	UTSW	16	35,951,402 (GRCm39)	missense	probably benign	0.15

Posted On

2012-12-06