Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02581:Cstdc5'

299337

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cstdc5

Ensembl Gene

ENSMUSG00000071561

Gene Name

cystatin domain containing 5

Synonyms

BC100530

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

IGL02581

Quality Score

Status

Chromosome

Chromosomal Location

36179744-36187932 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36179860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 86 (T86A)

Ref Sequence

ENSEMBL: ENSMUSP00000093794 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096089] [ENSMUST00000138796]

AlphaFold

Q497J0

Predicted Effect

probably damaging
Transcript: ENSMUST00000096089
AA Change: T86A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000093794
Gene: ENSMUSG00000071561
AA Change: T86A

Domain	Start	End	E-Value	Type
CY	1	97	3.19e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138796

SMART Domains

Protein: ENSMUSP00000117436
Gene: ENSMUSG00000071561

Domain	Start	End	E-Value	Type
CY	1	61	1.3e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146691

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157716

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034H15Rik	A	G	1: 191,635,652 (GRCm39)		probably benign	Het
Abca13	C	T	11: 9,349,132 (GRCm39)		probably benign	Het
Aga	T	C	8: 53,974,079 (GRCm39)		probably benign	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
C1rl	T	C	6: 124,470,113 (GRCm39)	S2P	possibly damaging	Het
Dgkd	T	C	1: 87,845,724 (GRCm39)		probably benign	Het
Dnajb11	A	G	16: 22,689,768 (GRCm39)	N311D	probably benign	Het
Flg2	A	C	3: 93,127,199 (GRCm39)	Q2037P	unknown	Het
Glyctk	T	C	9: 106,034,980 (GRCm39)	T29A	probably benign	Het
Gtf3c1	C	A	7: 125,245,687 (GRCm39)	R1672L	possibly damaging	Het
Hps3	A	T	3: 20,057,385 (GRCm39)		probably benign	Het
Kcnh3	G	T	15: 99,136,052 (GRCm39)	C683F	possibly damaging	Het
Lmtk2	T	G	5: 144,085,166 (GRCm39)	F213V	probably damaging	Het
Malrd1	C	A	2: 16,147,123 (GRCm39)	C1988*	probably null	Het
Map3k11	T	A	19: 5,750,834 (GRCm39)	M684K	probably benign	Het
Oga	T	A	19: 45,740,630 (GRCm39)	M902L	possibly damaging	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Plekhh1	T	C	12: 79,125,882 (GRCm39)		probably null	Het
Rev3l	C	A	10: 39,697,277 (GRCm39)	N591K	probably benign	Het
Rrp9	T	A	9: 106,360,827 (GRCm39)	N269K	probably damaging	Het
Sec14l4	T	C	11: 3,989,941 (GRCm39)	I80T	possibly damaging	Het
Srpra	G	A	9: 35,126,328 (GRCm39)		probably null	Het
Tmc8	G	A	11: 117,674,714 (GRCm39)	R143H	probably benign	Het
Trank1	T	C	9: 111,212,193 (GRCm39)	I1777T	probably benign	Het
Trim17	C	A	11: 58,861,902 (GRCm39)	Y311*	probably null	Het
Vps13a	C	T	19: 16,632,686 (GRCm39)	A2557T	probably benign	Het
Vps53	T	G	11: 75,992,883 (GRCm39)	N106T	probably damaging	Het

Other mutations in Cstdc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02012:Cstdc5	APN	16	36,187,802 (GRCm39)	missense	possibly damaging	0.95
IGL02026:Cstdc5	APN	16	36,187,848 (GRCm39)	missense	possibly damaging	0.84
IGL02389:Cstdc5	APN	16	36,187,848 (GRCm39)	missense	possibly damaging	0.84
IGL02754:Cstdc5	APN	16	36,179,899 (GRCm39)	missense	probably benign	0.01
R1378:Cstdc5	UTSW	16	36,179,929 (GRCm39)	missense	probably benign	0.01
R1541:Cstdc5	UTSW	16	36,187,863 (GRCm39)	start codon destroyed	probably damaging	1.00
R2849:Cstdc5	UTSW	16	36,187,814 (GRCm39)	missense	probably damaging	0.99
R7205:Cstdc5	UTSW	16	36,187,809 (GRCm39)	missense	probably benign	0.13
R7349:Cstdc5	UTSW	16	36,184,674 (GRCm39)	missense	probably damaging	1.00
R7592:Cstdc5	UTSW	16	36,187,862 (GRCm39)	start codon destroyed	probably null	0.86

Posted On

2015-04-16