Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01521:Clstn3'

90524

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 #

IGL01521

Quality Score

Status

Chromosome

Chromosomal Location

124407715-124441743 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 124434990 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 308 (W308*)

Ref Sequence

ENSEMBL: ENSMUSP00000108142 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008297] [ENSMUST00000112523] [ENSMUST00000150774]

AlphaFold

Q99JH7

Predicted Effect

probably null
Transcript: ENSMUST00000008297
AA Change: W345*

SMART Domains

Protein: ENSMUSP00000008297
Gene: ENSMUSG00000008153
AA Change: W345*

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 null
Transcript: ENSMUST00000112523
AA Change: W308*

SMART Domains

Protein: ENSMUSP00000108142
Gene: ENSMUSG00000008153
AA Change: W308*

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

probably benign
Transcript: ENSMUST00000150774

SMART Domains

Protein: ENSMUSP00000145422
Gene: ENSMUSG00000008153

Domain	Start	End	E-Value	Type
Blast:CA	13	64	4e-31	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156040

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	T	8: 111,770,419 (GRCm39)	I406F	possibly damaging	Het
Adgrb2	A	G	4: 129,886,085 (GRCm39)	E75G	probably damaging	Het
Angptl2	T	C	2: 33,136,215 (GRCm39)	Y467H	probably damaging	Het
Arap1	G	T	7: 101,049,812 (GRCm39)		probably null	Het
Arfgap1	G	A	2: 180,613,371 (GRCm39)	C22Y	probably damaging	Het
Artn	G	A	4: 117,784,484 (GRCm39)	P25S	probably damaging	Het
Bicra	G	T	7: 15,723,113 (GRCm39)	Q135K	probably benign	Het
Clpx	T	C	9: 65,226,026 (GRCm39)	V367A	probably damaging	Het
Cpb2	T	A	14: 75,495,071 (GRCm39)	V67D	probably damaging	Het
Cyp2c38	A	G	19: 39,449,114 (GRCm39)	Y80H	probably damaging	Het
Dbt	A	G	3: 116,327,032 (GRCm39)	D127G	probably benign	Het
Elp1	T	A	4: 56,771,059 (GRCm39)	E961D	probably benign	Het
Fhod1	G	A	8: 106,057,055 (GRCm39)	A973V	probably benign	Het
Flacc1	T	G	1: 58,709,553 (GRCm39)	K201Q	probably damaging	Het
Focad	A	T	4: 88,328,927 (GRCm39)	*1713C	probably null	Het
Gemin5	A	T	11: 58,025,744 (GRCm39)		probably benign	Het
Gpr22	C	T	12: 31,758,709 (GRCm39)		probably benign	Het
Kif23	T	A	9: 61,827,182 (GRCm39)	T890S	probably damaging	Het
Kmt5b	T	A	19: 3,836,618 (GRCm39)	S52T	possibly damaging	Het
Lipo3	A	T	19: 33,763,083 (GRCm39)	D53E	probably damaging	Het
Lrrc14b	G	A	13: 74,511,691 (GRCm39)	R130C	probably damaging	Het
Myt1	T	A	2: 181,467,704 (GRCm39)	I1046K	probably damaging	Het
Napsa	A	T	7: 44,236,061 (GRCm39)	I367F	probably damaging	Het
Or5aq1b	C	T	2: 86,902,077 (GRCm39)	V134I	probably benign	Het
Or8b56	A	T	9: 38,739,185 (GRCm39)	Y66F	probably damaging	Het
Rgcc	T	G	14: 79,538,185 (GRCm39)	S69R	probably damaging	Het
Rin3	T	A	12: 102,335,307 (GRCm39)	I326N	probably benign	Het
Sipa1	C	A	19: 5,711,006 (GRCm39)	M1I	probably null	Het
Sirpb1a	T	A	3: 15,475,561 (GRCm39)	M325L	probably benign	Het
Sult1a1	C	A	7: 126,274,451 (GRCm39)	V71F	possibly damaging	Het
Tgds	G	T	14: 118,350,506 (GRCm39)	P349Q	probably damaging	Het
Tmem63c	T	A	12: 87,115,918 (GRCm39)	H186Q	probably damaging	Het
Trappc9	A	G	15: 72,924,016 (GRCm39)	L242S	probably damaging	Het
Trip12	T	A	1: 84,743,919 (GRCm39)		probably benign	Het
Zfp451	T	C	1: 33,816,412 (GRCm39)		probably null	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
IGL01537:Clstn3	APN	6	124,408,559 (GRCm39)	missense	possibly damaging	0.91
IGL01729:Clstn3	APN	6	124,426,753 (GRCm39)	missense	probably benign	0.06
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

2013-12-09