Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02321:Cstdc6'

288255

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cstdc6

Ensembl Gene

ENSMUSG00000079594

Gene Name

cystatin domain containing 6

Synonyms

BC117090, Gm1975

Accession Numbers

Essential gene?

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

Stock #

IGL02321

Quality Score

Status

Chromosome

Chromosomal Location

36142027-36154694 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 36143388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110500 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114850]

AlphaFold

L7N257

Predicted Effect

probably benign
Transcript: ENSMUST00000114850

SMART Domains

Protein: ENSMUSP00000110500
Gene: ENSMUSG00000079594

Domain	Start	End	E-Value	Type
CY	1	96	3.09e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157892

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232069

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	C	T	8: 123,506,853 (GRCm39)	R49C	possibly damaging	Het
Alg2	T	C	4: 47,474,249 (GRCm39)	Y13C	probably benign	Het
Apoa4	A	G	9: 46,154,218 (GRCm39)	D273G	probably damaging	Het
Axl	C	T	7: 25,458,194 (GRCm39)	V854I	probably damaging	Het
Bicral	A	G	17: 47,122,873 (GRCm39)	S673P	probably benign	Het
Camkk2	A	G	5: 122,902,190 (GRCm39)	S40P	probably damaging	Het
Ccdc39	A	G	3: 33,871,107 (GRCm39)		probably benign	Het
Ccdc87	A	G	19: 4,891,059 (GRCm39)	E517G	probably damaging	Het
Cd22	A	G	7: 30,569,308 (GRCm39)	S603P	probably damaging	Het
Cdk5rap3	A	T	11: 96,804,291 (GRCm39)	C21S	probably damaging	Het
Chml	G	A	1: 175,519,900 (GRCm39)	P68L	possibly damaging	Het
Cplane1	A	G	15: 8,246,056 (GRCm39)	E1476G	probably benign	Het
Ephb3	T	C	16: 21,033,139 (GRCm39)	V41A	probably damaging	Het
Gm4781	T	A	10: 100,232,752 (GRCm39)		noncoding transcript	Het
Hip1r	A	T	5: 124,137,953 (GRCm39)	I760F	probably damaging	Het
Hyal5	T	C	6: 24,891,614 (GRCm39)	L476P	probably benign	Het
Isyna1	A	G	8: 71,048,920 (GRCm39)	N333S	probably damaging	Het
Kcnmb1	A	T	11: 33,920,091 (GRCm39)		probably benign	Het
Mark4	T	C	7: 19,160,314 (GRCm39)	T649A	probably benign	Het
Mgat1	T	C	11: 49,152,536 (GRCm39)	F340L	probably benign	Het
Mical1	G	A	10: 41,362,660 (GRCm39)	E932K	possibly damaging	Het
Mmaa	T	G	8: 80,000,759 (GRCm39)	Y233S	probably damaging	Het
Ntsr1	G	T	2: 180,180,627 (GRCm39)		probably null	Het
Or2o1	T	G	11: 49,051,602 (GRCm39)	Y254D	probably damaging	Het
Orm2	T	C	4: 63,281,229 (GRCm39)	Y56H	probably damaging	Het
Pex26	C	T	6: 121,170,468 (GRCm39)		probably benign	Het
Pik3r4	C	T	9: 105,521,677 (GRCm39)	A81V	probably benign	Het
Pramel32	A	G	4: 88,548,340 (GRCm39)	S22P	probably benign	Het
Prr14l	G	T	5: 32,985,151 (GRCm39)	T1448K	probably benign	Het
Ralgapa2	A	T	2: 146,254,736 (GRCm39)	Y799*	probably null	Het
Ryr1	A	C	7: 28,778,121 (GRCm39)	L2132R	probably damaging	Het
Sec23b	T	C	2: 144,421,325 (GRCm39)		probably null	Het
Sirt5	C	T	13: 43,533,164 (GRCm39)	T164I	probably damaging	Het
Slc9c1	T	C	16: 45,376,977 (GRCm39)	V429A	probably benign	Het
Spen	T	C	4: 141,244,441 (GRCm39)	D198G	unknown	Het
Syne2	A	G	12: 75,965,773 (GRCm39)	N832D	possibly damaging	Het
Traf7	C	A	17: 24,732,020 (GRCm39)	C193F	possibly damaging	Het
Vmn1r191	T	A	13: 22,363,068 (GRCm39)	R229*	probably null	Het
Vps53	C	T	11: 75,939,364 (GRCm39)	D680N	possibly damaging	Het
Wbp1l	G	T	19: 46,642,749 (GRCm39)	G234V	probably benign	Het
Wdfy3	A	T	5: 102,070,475 (GRCm39)	S1098T	probably damaging	Het
Yod1	T	A	1: 130,646,688 (GRCm39)	D188E	probably damaging	Het
Zbtb25	T	C	12: 76,396,907 (GRCm39)	D105G	probably damaging	Het

Other mutations in Cstdc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01901:Cstdc6	APN	16	36,154,625 (GRCm39)	missense	probably damaging	1.00
PIT4581001:Cstdc6	UTSW	16	36,143,294 (GRCm39)	missense	probably benign	0.05
R0200:Cstdc6	UTSW	16	36,143,386 (GRCm39)	critical splice acceptor site	probably null
R0564:Cstdc6	UTSW	16	36,143,346 (GRCm39)	nonsense	probably null
R0608:Cstdc6	UTSW	16	36,143,386 (GRCm39)	critical splice acceptor site	probably null
R1867:Cstdc6	UTSW	16	36,142,148 (GRCm39)	missense	possibly damaging	0.73
R1987:Cstdc6	UTSW	16	36,142,194 (GRCm39)	missense	probably damaging	1.00
R4947:Cstdc6	UTSW	16	36,142,127 (GRCm39)	missense	probably damaging	1.00
R5283:Cstdc6	UTSW	16	36,142,205 (GRCm39)	missense	probably damaging	0.99
R7238:Cstdc6	UTSW	16	36,142,193 (GRCm39)	missense	probably benign	0.29

Posted On

2015-04-16