Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01090:Csta1'

52909

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 #

IGL01090

Quality Score

Status

Chromosome

Chromosomal Location

35940316-35951559 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35945421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 31 (T31A)

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: T31A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000093795
Gene: ENSMUSG00000034362
AA Change: T31A

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	C	6: 91,896,099 (GRCm39)	S316P	possibly damaging	Het
Actn1	A	T	12: 80,245,846 (GRCm39)		probably null	Het
Agbl3	T	C	6: 34,776,822 (GRCm39)	Y443H	probably benign	Het
Akap13	T	A	7: 75,316,279 (GRCm39)	D578E	probably benign	Het
Aldoa	A	T	7: 126,395,207 (GRCm39)	H292Q	probably benign	Het
Als2	T	C	1: 59,254,775 (GRCm39)	K194R	possibly damaging	Het
Bivm	C	A	1: 44,168,451 (GRCm39)	H244N	probably damaging	Het
Cabp5	G	A	7: 13,139,412 (GRCm39)	E146K	probably damaging	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Cfap251	A	C	5: 123,418,052 (GRCm39)		probably benign	Het
Clcn4	A	G	7: 7,297,035 (GRCm39)	V129A	probably benign	Het
Clec4g	A	G	8: 3,769,482 (GRCm39)	S54P	probably damaging	Het
Crim1	G	T	17: 78,654,658 (GRCm39)	V645L	probably damaging	Het
D930048N14Rik	T	C	11: 51,544,610 (GRCm39)		probably benign	Het
Dhx34	G	T	7: 15,950,181 (GRCm39)	P329Q	probably damaging	Het
Dusp16	T	C	6: 134,702,912 (GRCm39)	N193S	probably benign	Het
Fbn1	A	G	2: 125,236,696 (GRCm39)		probably benign	Het
Fbxo46	A	G	7: 18,870,728 (GRCm39)	Y449C	probably damaging	Het
Fmo4	C	A	1: 162,637,354 (GRCm39)		probably null	Het
Foxi3	C	A	6: 70,937,729 (GRCm39)	N320K	probably damaging	Het
Gm9964	A	G	11: 79,187,210 (GRCm39)	L79P	unknown	Het
Gpr161	T	C	1: 165,134,149 (GRCm39)	I137T	probably damaging	Het
Herc1	C	T	9: 66,376,457 (GRCm39)	Q3426*	probably null	Het
Hps5	C	T	7: 46,437,751 (GRCm39)	R108H	probably benign	Het
Itch	T	A	2: 155,048,256 (GRCm39)	V540E	probably damaging	Het
L3mbtl1	C	A	2: 162,807,925 (GRCm39)	P520H	probably damaging	Het
Mvp	A	G	7: 126,588,859 (GRCm39)	V636A	probably benign	Het
Odf4	A	G	11: 68,812,778 (GRCm39)		probably benign	Het
Or7g18	A	G	9: 18,787,538 (GRCm39)	K305R	probably benign	Het
Pld1	T	C	3: 28,142,816 (GRCm39)	S675P	probably benign	Het
Plod3	A	G	5: 137,019,090 (GRCm39)	D325G	probably benign	Het
Prss12	T	C	3: 123,276,388 (GRCm39)	V339A	possibly damaging	Het
Ptpn13	T	A	5: 103,689,180 (GRCm39)	L991Q	probably null	Het
Ptpn3	T	A	4: 57,240,833 (GRCm39)	I261F	probably damaging	Het
Rab3gap1	T	C	1: 127,858,124 (GRCm39)		probably benign	Het
Rasa4	A	G	5: 136,130,847 (GRCm39)	R373G	possibly damaging	Het
Rmi1	T	C	13: 58,557,208 (GRCm39)	S486P	probably damaging	Het
Slc25a23	A	G	17: 57,354,233 (GRCm39)	I139T	probably benign	Het
Sspo	T	A	6: 48,467,059 (GRCm39)	S4017T	probably benign	Het
Tcaf1	C	A	6: 42,663,556 (GRCm39)	C108F	probably benign	Het
Tnc	T	C	4: 63,918,317 (GRCm39)	Q1198R	probably damaging	Het
Tnni3k	G	T	3: 154,645,320 (GRCm39)	Q522K	possibly damaging	Het
Trio	T	A	15: 27,773,093 (GRCm39)	E713V	probably damaging	Het
Ugt2b34	C	A	5: 87,041,679 (GRCm39)	V338F	probably damaging	Het
Usp40	T	A	1: 87,890,187 (GRCm39)	M892L	probably benign	Het
Usp54	A	T	14: 20,636,225 (GRCm39)		probably benign	Het
Vmn2r53	T	C	7: 12,334,835 (GRCm39)	E275G	possibly damaging	Het
Vmn2r87	A	G	10: 130,333,247 (GRCm39)	M1T	probably null	Het
Wdr83os	A	T	8: 85,808,476 (GRCm39)	D76V	probably damaging	Het

Other mutations in Csta1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00714:Csta1	APN	16	35,945,369 (GRCm39)	missense	probably damaging	1.00
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

2013-06-21