Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02754:Cstdc5'

306334

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: 0.057) question?

Stock #

IGL02754

Quality Score

Status

Chromosome

Chromosomal Location

36179744-36187932 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36179899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 73 (P73S)

Ref Sequence

ENSEMBL: ENSMUSP00000093794 (fasta)

Gene Model

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

AlphaFold

Q497J0

Predicted Effect

probably benign
Transcript: ENSMUST00000096089
AA Change: P73S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000093794
Gene: ENSMUSG00000071561
AA Change: P73S

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AW551984	T	A	9: 39,507,922 (GRCm39)	R405*	probably null	Het
AW551984	C	T	9: 39,504,624 (GRCm39)		probably null	Het
Bdp1	T	C	13: 100,197,481 (GRCm39)	E968G	possibly damaging	Het
Ccdc68	T	C	18: 70,076,935 (GRCm39)		probably null	Het
Ccdc87	T	A	19: 4,889,889 (GRCm39)	L127H	probably damaging	Het
Cdk5r1	G	T	11: 80,368,569 (GRCm39)	A79S	probably benign	Het
Cdyl	A	T	13: 35,867,725 (GRCm39)		probably benign	Het
Cfdp1	A	G	8: 112,580,766 (GRCm39)		probably benign	Het
Chi3l1	A	T	1: 134,111,339 (GRCm39)	I62F	probably damaging	Het
Cnot1	A	T	8: 96,481,706 (GRCm39)	I789K	probably benign	Het
Cobl	T	C	11: 12,204,371 (GRCm39)	K695R	probably damaging	Het
Cobl	C	A	11: 12,204,370 (GRCm39)	K752N	probably damaging	Het
Dcaf6	T	C	1: 165,165,915 (GRCm39)		probably null	Het
Ece2	A	T	16: 20,451,398 (GRCm39)	I197F	probably damaging	Het
Eif2b5	T	G	16: 20,321,536 (GRCm39)	V363G	possibly damaging	Het
Gca	T	C	2: 62,502,702 (GRCm39)	S37P	probably benign	Het
Ghsr	A	C	3: 27,426,645 (GRCm39)	I234L	probably damaging	Het
Grin3b	A	T	10: 79,808,723 (GRCm39)	I158F	possibly damaging	Het
Gtf2h2	A	T	13: 100,617,747 (GRCm39)	D178E	probably damaging	Het
Herc2	A	G	7: 55,747,246 (GRCm39)	E461G	probably damaging	Het
Hsph1	T	A	5: 149,547,057 (GRCm39)	N531I	possibly damaging	Het
Insl6	G	T	19: 29,302,529 (GRCm39)	Q63K	probably benign	Het
Lrp1b	T	C	2: 40,592,806 (GRCm39)	N3771S	probably benign	Het
Lrp8	T	C	4: 107,691,952 (GRCm39)		probably null	Het
Lvrn	C	T	18: 47,023,971 (GRCm39)	Q773*	probably null	Het
Mterf1b	T	C	5: 4,246,478 (GRCm39)	F40L	possibly damaging	Het
Nrg1	G	A	8: 32,316,391 (GRCm39)		probably benign	Het
Or10ak13	T	A	4: 118,639,117 (GRCm39)	I222F	possibly damaging	Het
Or1n1	T	A	2: 36,750,232 (GRCm39)	I43F	probably damaging	Het
Or5p79	T	C	7: 108,221,880 (GRCm39)	I287T	possibly damaging	Het
Pax5	C	T	4: 44,570,059 (GRCm39)	V319I	probably damaging	Het
Plcz1	T	A	6: 139,956,307 (GRCm39)	T321S	probably benign	Het
Plekha6	A	G	1: 133,212,676 (GRCm39)	E660G	probably damaging	Het
Prep	T	C	10: 44,943,428 (GRCm39)	M1T	probably null	Het
Prickle1	C	T	15: 93,399,034 (GRCm39)	S598N	possibly damaging	Het
Prtn3	A	G	10: 79,716,932 (GRCm39)	Q99R	probably benign	Het
Rad50	A	G	11: 53,592,883 (GRCm39)	V89A	probably damaging	Het
Ret	T	C	6: 118,153,213 (GRCm39)	Y485C	probably benign	Het
Setd2	T	A	9: 110,379,124 (GRCm39)	F980I	possibly damaging	Het
Slc44a4	A	G	17: 35,140,279 (GRCm39)	Y228C	probably damaging	Het
Tex10	C	T	4: 48,435,028 (GRCm39)	C779Y	possibly damaging	Het
Tfdp2	T	G	9: 96,199,592 (GRCm39)	S285A	probably benign	Het
Thsd4	T	A	9: 59,896,380 (GRCm39)		probably benign	Het
Tmem106a	A	C	11: 101,481,219 (GRCm39)	E242D	probably benign	Het
Ttc22	T	C	4: 106,495,669 (GRCm39)	V341A	probably benign	Het
Ubr4	T	A	4: 139,138,095 (GRCm39)	S1151T	probably damaging	Het
Ubr4	G	A	4: 139,120,470 (GRCm39)		probably null	Het
Vmn1r206	A	T	13: 22,805,060 (GRCm39)	L49*	probably null	Het
Vmn1r233	A	T	17: 21,214,887 (GRCm39)	F21Y	probably benign	Het
Vmn1r233	A	T	17: 21,214,886 (GRCm39)	F21L	probably benign	Het
Vmn2r15	A	T	5: 109,441,134 (GRCm39)	C241*	probably null	Het
Zmym6	T	A	4: 127,003,764 (GRCm39)		probably benign	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
IGL02581:Cstdc5	APN	16	36,179,860 (GRCm39)	missense	probably damaging	0.97
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