Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00936:Cstdc1'

26919

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cstdc1

Ensembl Gene

ENSMUSG00000027444

Gene Name

cystatin domain containing 1

Synonyms

8030411F24Rik, cystatin SC

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

IGL00936

Quality Score

Status

Chromosome

Chromosomal Location

148623929-148627856 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 148627724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 124 (T124P)

Ref Sequence

ENSEMBL: ENSMUSP00000028933 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028932] [ENSMUST00000028933] [ENSMUST00000168443]

AlphaFold

Q8VII3

Predicted Effect

probably benign
Transcript: ENSMUST00000028932

SMART Domains

Protein: ENSMUSP00000028932
Gene: ENSMUSG00000027443

Domain	Start	End	E-Value	Type
CY	18	126	9.57e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000028933
AA Change: T124P

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000028933
Gene: ENSMUSG00000027444
AA Change: T124P

Domain	Start	End	E-Value	Type
CY	20	128	2.25e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168443

SMART Domains

Protein: ENSMUSP00000126008
Gene: ENSMUSG00000027443

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
CY	31	139	4.8e-5	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 8 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,682,510 (GRCm39)	T1053A	probably benign	Het
Col13a1	A	G	10: 61,712,069 (GRCm39)	M332T	probably damaging	Het
Cyth4	A	G	15: 78,504,113 (GRCm39)	E361G	probably benign	Het
Mrps22	T	C	9: 98,479,034 (GRCm39)	T114A	possibly damaging	Het
Nup155	T	C	15: 8,157,889 (GRCm39)		probably benign	Het
Or5b113	T	A	19: 13,341,988 (GRCm39)		probably benign	Het
Slc35g3	T	C	11: 69,651,317 (GRCm39)		probably null	Het
Taar7f	T	C	10: 23,926,066 (GRCm39)	V220A	probably benign	Het

Other mutations in Cstdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00857:Cstdc1	APN	2	148,624,170 (GRCm39)	missense	possibly damaging	0.93
IGL02353:Cstdc1	APN	2	148,625,387 (GRCm39)	splice site	probably benign
IGL03088:Cstdc1	APN	2	148,625,327 (GRCm39)	missense	possibly damaging	0.81
R0078:Cstdc1	UTSW	2	148,627,745 (GRCm39)	makesense	probably null
R0465:Cstdc1	UTSW	2	148,625,345 (GRCm39)	missense	probably benign	0.14
R0542:Cstdc1	UTSW	2	148,624,092 (GRCm39)	missense	probably benign
R0723:Cstdc1	UTSW	2	148,625,282 (GRCm39)	missense	probably damaging	0.98
R2025:Cstdc1	UTSW	2	148,624,148 (GRCm39)	missense	probably damaging	0.98
R5153:Cstdc1	UTSW	2	148,625,360 (GRCm39)	missense	probably benign	0.12
R5360:Cstdc1	UTSW	2	148,625,298 (GRCm39)	missense	probably damaging	1.00
R5362:Cstdc1	UTSW	2	148,625,298 (GRCm39)	missense	probably damaging	1.00
R5363:Cstdc1	UTSW	2	148,625,298 (GRCm39)	missense	probably damaging	1.00
R8332:Cstdc1	UTSW	2	148,625,377 (GRCm39)	missense	probably damaging	0.98

Posted On

2013-04-17