Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01729:Clstn3'

105406

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clstn3

Ensembl Gene

ENSMUSG00000008153

Gene Name

calsyntenin 3

Synonyms

Cst-3, CSTN3, alcadein-beta

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01729

Quality Score

Status

Chromosome

Chromosomal Location

124407715-124441743 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124426753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 523 (S523G)

Ref Sequence

ENSEMBL: ENSMUSP00000108142 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008297] [ENSMUST00000112523]

AlphaFold

Q99JH7

Predicted Effect

probably benign
Transcript: ENSMUST00000008297
AA Change: S560G

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000008297
Gene: ENSMUSG00000008153
AA Change: S560G

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
CA	50	143	2.72e-12	SMART
CA	166	244	4.04e-2	SMART
SCOP:d1a8d_1	333	549	7e-23	SMART
transmembrane domain	846	868	N/A	INTRINSIC
low complexity region	928	945	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112523
AA Change: S523G

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000108142
Gene: ENSMUSG00000008153
AA Change: S523G

Domain	Start	End	E-Value	Type
CA	13	106	2.72e-12	SMART
CA	129	207	4.04e-2	SMART
Pfam:Laminin_G_3	304	505	4.1e-8	PFAM
transmembrane domain	809	831	N/A	INTRINSIC
low complexity region	891	908	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147947

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit reductions in excitatory and inhibitory synapse density and deficits in synaptic transmission. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	A	G	15: 83,112,526 (GRCm39)	F86L	probably damaging	Het
Acer3	A	G	7: 97,866,072 (GRCm39)	V217A	probably benign	Het
Adcy10	T	C	1: 165,340,737 (GRCm39)		probably null	Het
Adcy8	C	T	15: 64,678,511 (GRCm39)	V481I	probably damaging	Het
Ano3	C	T	2: 110,611,739 (GRCm39)		probably null	Het
Arhgap23	C	T	11: 97,344,787 (GRCm39)	T583I	probably damaging	Het
Atp2a1	A	G	7: 126,057,106 (GRCm39)	L173P	probably damaging	Het
Clgn	T	C	8: 84,124,279 (GRCm39)	W74R	probably damaging	Het
Dnah10	A	C	5: 124,864,529 (GRCm39)	K2245Q	probably benign	Het
Dsg1b	G	T	18: 20,538,295 (GRCm39)	V634L	possibly damaging	Het
Dzip3	A	T	16: 48,748,726 (GRCm39)	V864E	possibly damaging	Het
Ear2	A	T	14: 44,340,701 (GRCm39)	R120*	probably null	Het
Fam171b	T	C	2: 83,685,881 (GRCm39)		probably benign	Het
Fam186b	G	A	15: 99,178,132 (GRCm39)	S398L	probably benign	Het
Gabrp	T	C	11: 33,502,689 (GRCm39)	K392E	probably damaging	Het
Gm10355	G	A	3: 101,213,999 (GRCm39)		noncoding transcript	Het
Gm3424	T	C	14: 17,337,188 (GRCm39)	Y90C	probably damaging	Het
Gm8165	A	G	14: 43,910,186 (GRCm39)	V212A	unknown	Het
Grm7	G	A	6: 111,223,145 (GRCm39)	R395Q	probably benign	Het
Il1r1	T	A	1: 40,333,986 (GRCm39)	N185K	probably damaging	Het
Jam3	A	G	9: 27,016,821 (GRCm39)	F80L	probably damaging	Het
Map1s	T	C	8: 71,365,712 (GRCm39)	Y206H	probably damaging	Het
Mroh7	A	G	4: 106,561,402 (GRCm39)	Y614H	possibly damaging	Het
Ntmt2	T	A	1: 163,552,572 (GRCm39)	D18V	probably damaging	Het
Pate2	T	C	9: 35,581,888 (GRCm39)	Y61H	probably damaging	Het
Prox1	T	A	1: 189,893,372 (GRCm39)	T358S	probably benign	Het
Prpf6	T	A	2: 181,296,710 (GRCm39)	D876E	probably damaging	Het
Rpf1	G	A	3: 146,212,904 (GRCm39)	R311C	probably damaging	Het
Rpusd2	T	A	2: 118,865,837 (GRCm39)	V178D	probably damaging	Het
Stx2	A	G	5: 129,068,042 (GRCm39)	F222L	probably benign	Het
Themis	T	A	10: 28,637,587 (GRCm39)	Y230*	probably null	Het
Tmem132e	T	C	11: 82,325,942 (GRCm39)	L314P	possibly damaging	Het
Tmtc3	T	C	10: 100,283,017 (GRCm39)	E846G	probably benign	Het
Trem1	T	C	17: 48,551,603 (GRCm39)	V88A	possibly damaging	Het
Trim21	G	A	7: 102,213,100 (GRCm39)	A66V	probably damaging	Het
Trip4	A	C	9: 65,782,174 (GRCm39)	V186G	probably benign	Het
Vps9d1	T	C	8: 123,973,739 (GRCm39)	E348G	probably damaging	Het
Xrn2	T	C	2: 146,878,717 (GRCm39)		probably null	Het
Zfp36	A	G	7: 28,077,888 (GRCm39)	S7P	probably damaging	Het

Other mutations in Clstn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01068:Clstn3	APN	6	124,439,098 (GRCm39)	missense	probably damaging	1.00
IGL01415:Clstn3	APN	6	124,415,781 (GRCm39)	nonsense	probably null
IGL01521:Clstn3	APN	6	124,434,990 (GRCm39)	nonsense	probably null
IGL01537:Clstn3	APN	6	124,408,559 (GRCm39)	missense	possibly damaging	0.91
IGL01879:Clstn3	APN	6	124,415,769 (GRCm39)	missense	probably damaging	1.00
IGL01998:Clstn3	APN	6	124,435,622 (GRCm39)	missense	probably damaging	1.00
IGL03130:Clstn3	APN	6	124,436,222 (GRCm39)	missense	probably damaging	0.98
IGL03405:Clstn3	APN	6	124,415,327 (GRCm39)	missense	possibly damaging	0.95
PIT4403001:Clstn3	UTSW	6	124,434,982 (GRCm39)	missense	probably damaging	1.00
R0049:Clstn3	UTSW	6	124,436,812 (GRCm39)	missense	possibly damaging	0.87
R0049:Clstn3	UTSW	6	124,436,812 (GRCm39)	missense	possibly damaging	0.87
R0208:Clstn3	UTSW	6	124,409,128 (GRCm39)	splice site	probably benign
R0276:Clstn3	UTSW	6	124,408,699 (GRCm39)	splice site	probably benign
R0440:Clstn3	UTSW	6	124,428,372 (GRCm39)	missense	probably damaging	1.00
R0612:Clstn3	UTSW	6	124,426,459 (GRCm39)	missense	probably damaging	0.98
R1200:Clstn3	UTSW	6	124,436,129 (GRCm39)	missense	probably damaging	1.00
R1224:Clstn3	UTSW	6	124,434,878 (GRCm39)	missense	probably benign
R1378:Clstn3	UTSW	6	124,415,378 (GRCm39)	missense	probably damaging	1.00
R1491:Clstn3	UTSW	6	124,414,449 (GRCm39)	missense	possibly damaging	0.51
R1495:Clstn3	UTSW	6	124,426,876 (GRCm39)	missense	probably benign	0.00
R1511:Clstn3	UTSW	6	124,439,128 (GRCm39)	missense	probably damaging	1.00
R1655:Clstn3	UTSW	6	124,414,386 (GRCm39)	missense	probably damaging	1.00
R1731:Clstn3	UTSW	6	124,408,591 (GRCm39)	missense	probably benign	0.04
R1734:Clstn3	UTSW	6	124,413,773 (GRCm39)	splice site	probably benign
R1751:Clstn3	UTSW	6	124,408,958 (GRCm39)	missense	probably damaging	1.00
R1954:Clstn3	UTSW	6	124,436,257 (GRCm39)	missense	possibly damaging	0.94
R2133:Clstn3	UTSW	6	124,426,462 (GRCm39)	missense	probably benign
R2192:Clstn3	UTSW	6	124,436,166 (GRCm39)	missense	probably damaging	1.00
R2314:Clstn3	UTSW	6	124,427,676 (GRCm39)	missense	probably benign	0.39
R2874:Clstn3	UTSW	6	124,415,294 (GRCm39)	missense	probably damaging	1.00
R3500:Clstn3	UTSW	6	124,408,670 (GRCm39)	missense	probably benign	0.01
R3761:Clstn3	UTSW	6	124,434,835 (GRCm39)	missense	possibly damaging	0.54
R3878:Clstn3	UTSW	6	124,434,901 (GRCm39)	missense	probably damaging	0.97
R3927:Clstn3	UTSW	6	124,428,327 (GRCm39)	missense	probably damaging	1.00
R3934:Clstn3	UTSW	6	124,434,901 (GRCm39)	missense	probably damaging	0.97
R3935:Clstn3	UTSW	6	124,434,901 (GRCm39)	missense	probably damaging	0.97
R4063:Clstn3	UTSW	6	124,426,792 (GRCm39)	missense	possibly damaging	0.51
R4402:Clstn3	UTSW	6	124,433,939 (GRCm39)	missense	probably damaging	0.96
R4534:Clstn3	UTSW	6	124,436,179 (GRCm39)	missense	probably damaging	1.00
R4785:Clstn3	UTSW	6	124,414,331 (GRCm39)	splice site	probably null
R4834:Clstn3	UTSW	6	124,408,912 (GRCm39)	splice site	probably null
R5921:Clstn3	UTSW	6	124,408,539 (GRCm39)	utr 3 prime	probably benign
R5932:Clstn3	UTSW	6	124,415,291 (GRCm39)	missense	probably benign	0.01
R6025:Clstn3	UTSW	6	124,408,623 (GRCm39)	missense	possibly damaging	0.73
R6101:Clstn3	UTSW	6	124,438,629 (GRCm39)	missense	probably damaging	1.00
R6360:Clstn3	UTSW	6	124,415,388 (GRCm39)	missense	possibly damaging	0.88
R6578:Clstn3	UTSW	6	124,427,663 (GRCm39)	critical splice donor site	probably null
R6813:Clstn3	UTSW	6	124,413,894 (GRCm39)	missense	probably benign	0.00
R7380:Clstn3	UTSW	6	124,433,948 (GRCm39)	missense	probably benign	0.01
R7419:Clstn3	UTSW	6	124,435,088 (GRCm39)	missense	probably benign	0.05
R7625:Clstn3	UTSW	6	124,414,377 (GRCm39)	nonsense	probably null
R7780:Clstn3	UTSW	6	124,439,161 (GRCm39)	missense	probably damaging	0.98
R7936:Clstn3	UTSW	6	124,408,972 (GRCm39)	missense	possibly damaging	0.73
R7939:Clstn3	UTSW	6	124,439,158 (GRCm39)	missense	probably damaging	1.00
R8047:Clstn3	UTSW	6	124,408,972 (GRCm39)	missense	possibly damaging	0.73
R8079:Clstn3	UTSW	6	124,436,763 (GRCm39)	missense	probably damaging	1.00
R8085:Clstn3	UTSW	6	124,435,683 (GRCm39)	missense	probably benign	0.23
R8299:Clstn3	UTSW	6	124,414,332 (GRCm39)	critical splice donor site	probably null
R8406:Clstn3	UTSW	6	124,439,136 (GRCm39)	missense	probably damaging	1.00
R8685:Clstn3	UTSW	6	124,433,867 (GRCm39)	missense	probably damaging	1.00
R9045:Clstn3	UTSW	6	124,408,921 (GRCm39)	missense	probably damaging	0.98
R9209:Clstn3	UTSW	6	124,408,571 (GRCm39)	missense	probably benign	0.02
R9264:Clstn3	UTSW	6	124,436,727 (GRCm39)	missense	probably damaging	1.00
R9268:Clstn3	UTSW	6	124,433,880 (GRCm39)	missense	probably damaging	0.99
R9443:Clstn3	UTSW	6	124,428,358 (GRCm39)	missense	probably damaging	1.00
RF014:Clstn3	UTSW	6	124,436,225 (GRCm39)	nonsense	probably null
X0066:Clstn3	UTSW	6	124,426,770 (GRCm39)	missense	probably benign	0.13
Z1176:Clstn3	UTSW	6	124,436,159 (GRCm39)	missense	probably damaging	1.00
Z1177:Clstn3	UTSW	6	124,426,740 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-01-21