Mutagenetix > Incidental Mutation

Incidental Mutation 'R0564:Cstdc6'

46094

Institutional Source

Beutler Lab

Gene Symbol

Cstdc6

Ensembl Gene

ENSMUSG00000079594

Gene Name

cystatin domain containing 6

Synonyms

BC117090, Gm1975

MMRRC Submission

038755-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R0564 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36142027-36154694 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 36143346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 34 (Y34*)

Ref Sequence

ENSEMBL: ENSMUSP00000110500 (fasta)

Gene Model

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

AlphaFold

L7N257

Predicted Effect

probably null
Transcript: ENSMUST00000114850
AA Change: Y34*

SMART Domains

Protein: ENSMUSP00000110500
Gene: ENSMUSG00000079594
AA Change: Y34*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl5	A	G	10: 80,180,681 (GRCm39)	V127A	probably damaging	Het
Alox12	T	A	11: 70,143,662 (GRCm39)	D202V	probably damaging	Het
Ankib1	A	G	5: 3,779,655 (GRCm39)	Y405H	probably damaging	Het
Apbb2	A	T	5: 66,609,593 (GRCm39)	M18K	probably damaging	Het
Atad2	C	A	15: 57,989,229 (GRCm39)		probably benign	Het
Birc6	T	A	17: 74,932,238 (GRCm39)		probably benign	Het
Ccdc126	T	C	6: 49,311,076 (GRCm39)	M28T	possibly damaging	Het
Cdc16	A	T	8: 13,831,618 (GRCm39)	D617V	probably damaging	Het
Cep135	G	A	5: 76,763,557 (GRCm39)	E516K	probably damaging	Het
Cep135	G	T	5: 76,786,796 (GRCm39)	M1081I	probably benign	Het
Col6a3	A	C	1: 90,735,456 (GRCm39)	V731G	probably damaging	Het
Cwc27	C	A	13: 104,797,865 (GRCm39)	E365*	probably null	Het
Dip2b	C	A	15: 100,060,600 (GRCm39)	Y258*	probably null	Het
Dnah17	A	G	11: 117,973,807 (GRCm39)	V1900A	probably damaging	Het
Dpysl2	A	T	14: 67,042,895 (GRCm39)		probably benign	Het
Dync2h1	A	T	9: 7,139,432 (GRCm39)	L1401Q	probably damaging	Het
Esf1	A	T	2: 140,000,506 (GRCm39)	Y427N	possibly damaging	Het
Fbln1	T	A	15: 85,111,308 (GRCm39)	V154D	probably benign	Het
Frem2	A	G	3: 53,563,530 (GRCm39)	F326L	probably damaging	Het
Gm4922	T	A	10: 18,659,813 (GRCm39)	N303I	possibly damaging	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Iigp1	G	A	18: 60,523,523 (GRCm39)	V214M	probably damaging	Het
Luzp2	A	G	7: 54,485,710 (GRCm39)	K2E	probably damaging	Het
Mcc	A	G	18: 44,601,574 (GRCm39)	L410P	probably damaging	Het
Mfn2	A	G	4: 147,967,712 (GRCm39)	F452S	probably damaging	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Micu2	A	G	14: 58,156,831 (GRCm39)	F335L	possibly damaging	Het
Mpp3	T	G	11: 101,896,173 (GRCm39)	K450T	possibly damaging	Het
Mtmr4	T	A	11: 87,489,714 (GRCm39)	V79E	probably damaging	Het
Nlrp4b	A	G	7: 10,448,585 (GRCm39)	I263V	probably benign	Het
Or52p2	T	C	7: 102,237,738 (GRCm39)	I71V	probably benign	Het
Or6c76	T	G	10: 129,612,005 (GRCm39)	V74G	probably damaging	Het
Pdk1	G	A	2: 71,710,383 (GRCm39)	W113*	probably null	Het
Phaf1	T	A	8: 105,966,603 (GRCm39)		probably benign	Het
Phxr4	A	T	9: 13,342,993 (GRCm39)		probably benign	Het
Rad51ap2	T	A	12: 11,507,897 (GRCm39)	H606Q	probably benign	Het
Ralgapa1	A	T	12: 55,829,670 (GRCm39)	I187K	possibly damaging	Het
Rps27	A	G	3: 90,120,230 (GRCm39)		probably benign	Het
Sema3e	T	A	5: 14,286,099 (GRCm39)		probably null	Het
Sh2d3c	G	A	2: 32,643,064 (GRCm39)	C749Y	probably damaging	Het
Siah2	T	C	3: 58,583,656 (GRCm39)	D210G	probably benign	Het
Smap2	G	A	4: 120,834,174 (GRCm39)	P155S	probably benign	Het
Snrk	C	T	9: 121,995,610 (GRCm39)	T463M	possibly damaging	Het
Tm9sf3	A	G	19: 41,233,964 (GRCm39)		probably benign	Het
Tmem132d	C	T	5: 127,861,842 (GRCm39)	E760K	probably damaging	Het
Tmem184c	A	T	8: 78,332,789 (GRCm39)		probably null	Het
Tmem235	A	T	11: 117,751,674 (GRCm39)	I33F	possibly damaging	Het
Tmem267	A	T	13: 119,629,175 (GRCm39)		probably null	Het
Top1	G	A	2: 160,556,185 (GRCm39)	R548Q	probably damaging	Het
Trio	T	C	15: 27,805,908 (GRCm39)	N527D	probably damaging	Het
Upf3a	A	G	8: 13,845,656 (GRCm39)	K252E	probably benign	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
IGL02321:Cstdc6	APN	16	36,143,388 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TGTTAGCCTCCACATCTAGCCTACAG -3'
(R):5'- TAGAGGTTTGAGCAGCCAACCCAG -3'

Sequencing Primer
(F):5'- TTGGCAGCAAACCAATGTCTG -3'
(R):5'- cagccaacccaggctCC -3'

Posted On

2013-06-11