Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01141:Cstdc3'

52970

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cstdc3

Ensembl Gene

ENSMUSG00000079595

Gene Name

cystatin domain containing 3

Synonyms

Gm4758

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL01141

Quality Score

Status

Chromosome

Chromosomal Location

36125719-36133079 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36128426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 7 (E7G)

Ref Sequence

ENSEMBL: ENSMUSP00000110501 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114851]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000114851
AA Change: E7G

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000110501
Gene: ENSMUSG00000079595
AA Change: E7G

Domain	Start	End	E-Value	Type
CY	1	96	1.9e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157239

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232642

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,828,556 (GRCm39)	D1447E	probably damaging	Het
Atp2a3	T	C	11: 72,873,491 (GRCm39)	I788T	probably damaging	Het
Axin1	G	A	17: 26,409,015 (GRCm39)	E672K	probably damaging	Het
Ccno	A	G	13: 113,125,561 (GRCm39)	D175G	probably damaging	Het
Cep83	C	A	10: 94,624,619 (GRCm39)	T632K	probably benign	Het
Ckmt1	A	T	2: 121,193,474 (GRCm39)	I345F	probably benign	Het
Cntnap1	G	A	11: 101,069,633 (GRCm39)		probably benign	Het
Edem2	A	G	2: 155,550,948 (GRCm39)	Y340H	probably benign	Het
Erich3	A	G	3: 154,419,653 (GRCm39)	K249R	probably benign	Het
Fndc9	T	C	11: 46,128,526 (GRCm39)	I15T	probably benign	Het
Grip2	G	T	6: 91,759,878 (GRCm39)	Q300K	probably benign	Het
Herc2	T	C	7: 55,862,589 (GRCm39)	V4050A	possibly damaging	Het
Jup	A	T	11: 100,277,075 (GRCm39)	D44E	probably benign	Het
Lingo3	G	T	10: 80,671,147 (GRCm39)	P261Q	probably damaging	Het
Lrrfip2	C	T	9: 111,048,783 (GRCm39)	R311W	probably damaging	Het
Mansc1	C	A	6: 134,598,748 (GRCm39)	L56F	probably benign	Het
Map1b	A	G	13: 99,571,269 (GRCm39)	I484T	probably damaging	Het
Mpeg1	T	A	19: 12,440,149 (GRCm39)	F536I	probably damaging	Het
Mrgprb1	T	G	7: 48,097,775 (GRCm39)	T46P	probably benign	Het
Mug1	A	G	6: 121,847,458 (GRCm39)	N612S	probably benign	Het
Or5p56	T	C	7: 107,589,758 (GRCm39)	F62S	probably damaging	Het
Or6c212	T	A	10: 129,558,814 (GRCm39)	I200L	probably benign	Het
Pax8	A	G	2: 24,331,162 (GRCm39)	S178P	probably damaging	Het
Peak1	A	G	9: 56,165,811 (GRCm39)	F706L	probably benign	Het
Prkdc	A	G	16: 15,544,568 (GRCm39)	T1853A	probably damaging	Het
Reln	A	C	5: 22,174,031 (GRCm39)	F2024C	probably damaging	Het
Reln	G	T	5: 22,124,067 (GRCm39)	P2813Q	probably damaging	Het
Riox1	A	G	12: 83,998,568 (GRCm39)	Q368R	probably damaging	Het
Rspry1	T	C	8: 95,376,483 (GRCm39)	V335A	probably benign	Het
Scn3a	T	C	2: 65,325,457 (GRCm39)	N1020S	possibly damaging	Het
Scyl2	A	G	10: 89,476,497 (GRCm39)	V876A	probably benign	Het
Sdhaf3	T	A	6: 6,956,141 (GRCm39)	F39I	probably damaging	Het
Sfxn4	T	C	19: 60,839,452 (GRCm39)	E202G	possibly damaging	Het
Slc1a4	A	T	11: 20,258,644 (GRCm39)		probably benign	Het
Sln	A	G	9: 53,760,784 (GRCm39)	I10V	probably benign	Het
Ssh2	A	G	11: 77,340,552 (GRCm39)	E568G	probably damaging	Het
Supt7l	G	A	5: 31,675,779 (GRCm39)	P270S	probably benign	Het
Tanc2	A	G	11: 105,777,300 (GRCm39)		probably benign	Het
Tatdn1	A	T	15: 58,781,416 (GRCm39)		probably benign	Het
Tfip11	C	T	5: 112,477,369 (GRCm39)	P117L	possibly damaging	Het
Vpreb1a	T	C	16: 16,686,951 (GRCm39)	M9V	probably benign	Het

Other mutations in Cstdc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01787:Cstdc3	APN	16	36,131,591 (GRCm39)	missense	probably damaging	1.00
IGL02114:Cstdc3	APN	16	36,131,617 (GRCm39)	nonsense	probably null
IGL02547:Cstdc3	APN	16	36,132,888 (GRCm39)	critical splice acceptor site	probably benign
R1800:Cstdc3	UTSW	16	36,132,895 (GRCm39)	missense	probably damaging	0.98
R1858:Cstdc3	UTSW	16	36,128,449 (GRCm39)	missense	probably damaging	1.00
R1958:Cstdc3	UTSW	16	36,132,927 (GRCm39)	missense	possibly damaging	0.78
R4424:Cstdc3	UTSW	16	36,132,951 (GRCm39)	splice site	probably null	0.52
R4618:Cstdc3	UTSW	16	36,132,952 (GRCm39)	missense	possibly damaging	0.69
R5162:Cstdc3	UTSW	16	36,132,918 (GRCm39)	missense	probably damaging	1.00
R6437:Cstdc3	UTSW	16	36,132,999 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21