Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00857:Cstdc1'

8493

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 #

IGL00857

Quality Score

Status

Chromosome

Chromosomal Location

148623929-148627856 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 148624170 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 48 (D48G)

Ref Sequence

ENSEMBL: ENSMUSP00000028933 (fasta)

Gene Model

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

AlphaFold

Q8VII3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028933
AA Change: D48G

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028933
Gene: ENSMUSG00000027444
AA Change: D48G

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acr	A	G	15: 89,454,205 (GRCm39)	T181A	probably benign	Het
Anks3	T	A	16: 4,771,793 (GRCm39)	H77L	possibly damaging	Het
Cacna1d	A	T	14: 30,072,638 (GRCm39)	N112K	possibly damaging	Het
Cd164	A	G	10: 41,404,691 (GRCm39)	T150A	probably benign	Het
Cfap57	C	T	4: 118,470,120 (GRCm39)		probably null	Het
Cntnap2	C	A	6: 47,026,358 (GRCm39)	N61K	probably benign	Het
Cyp4f39	A	G	17: 32,708,631 (GRCm39)	I393V	probably benign	Het
Dcaf11	A	T	14: 55,798,742 (GRCm39)		probably benign	Het
Defb7	G	A	8: 19,547,594 (GRCm39)	R33Q	possibly damaging	Het
Dmxl2	T	C	9: 54,283,604 (GRCm39)	Y2743C	probably benign	Het
Enpp2	A	G	15: 54,739,046 (GRCm39)		probably null	Het
Fam135b	T	A	15: 71,335,465 (GRCm39)	E576D	probably benign	Het
Gfpt1	T	A	6: 87,033,145 (GRCm39)	N123K	probably damaging	Het
Hnmt	T	C	2: 23,893,795 (GRCm39)	D233G	probably benign	Het
Hsd3b2	T	A	3: 98,618,859 (GRCm39)	E362V	possibly damaging	Het
Hsdl2	T	A	4: 59,617,735 (GRCm39)	N487K	probably benign	Het
Hspa14	T	C	2: 3,503,796 (GRCm39)	Y83C	probably damaging	Het
Itm2b	T	C	14: 73,602,056 (GRCm39)	N214S	probably benign	Het
Krt86	C	T	15: 101,371,741 (GRCm39)	H104Y	probably benign	Het
Myocd	A	T	11: 65,069,662 (GRCm39)	V726D	possibly damaging	Het
Ncapg	T	A	5: 45,833,927 (GRCm39)		probably null	Het
Nrdc	A	T	4: 108,911,199 (GRCm39)	I774F	probably damaging	Het
Pot1a	T	C	6: 25,744,627 (GRCm39)	I626V	probably benign	Het
Prkab2	C	T	3: 97,569,659 (GRCm39)	A75V	possibly damaging	Het
Sdr9c7	A	G	10: 127,734,728 (GRCm39)	Q72R	probably benign	Het
Slc16a7	A	C	10: 125,066,803 (GRCm39)	Y279D	probably benign	Het
Slc8a1	T	A	17: 81,955,308 (GRCm39)	T577S	probably benign	Het
Slitrk3	G	A	3: 72,957,174 (GRCm39)	L533F	probably damaging	Het
Tent5a	C	A	9: 85,206,806 (GRCm39)	V331L	possibly damaging	Het
Tmeff1	T	C	4: 48,610,435 (GRCm39)	V102A	probably damaging	Het
Ttn	G	A	2: 76,583,099 (GRCm39)	T22598I	probably damaging	Het
Ube4a	C	A	9: 44,843,684 (GRCm39)	G977W	probably damaging	Het

Other mutations in Cstdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00936:Cstdc1	APN	2	148,627,724 (GRCm39)	missense	probably benign	0.05
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

2012-12-06