Incidental Mutation 'IGL01415:Clstn3'
ID80200
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clstn3
Ensembl Gene ENSMUSG00000008153
Gene Namecalsyntenin 3
Synonymsalcadein-beta, Cst-3, CSTN3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01415
Quality Score
Status
Chromosome6
Chromosomal Location124430759-124464794 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 124438822 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 634 (Q634*)
Ref Sequence ENSEMBL: ENSMUSP00000108142 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008297] [ENSMUST00000112523]
Predicted Effect probably null
Transcript: ENSMUST00000008297
AA Change: Q671*
SMART Domains Protein: ENSMUSP00000008297
Gene: ENSMUSG00000008153
AA Change: Q671*

DomainStartEndE-ValueType
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: Q634*
SMART Domains Protein: ENSMUSP00000108142
Gene: ENSMUSG00000008153
AA Change: Q634*

DomainStartEndE-ValueType
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: ENSMUST00000143283
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700023F06Rik T C 11: 103,200,928 Q42R probably damaging Het
Ankrd44 T C 1: 54,752,928 H316R probably damaging Het
Arfgef2 G A 2: 166,867,355 M1117I probably damaging Het
Cdc42bpg A G 19: 6,310,851 D213G probably damaging Het
Cfap69 G A 5: 5,646,979 P106S probably damaging Het
Chkb A T 15: 89,428,784 L30H probably damaging Het
Cit A G 5: 115,941,903 K758E possibly damaging Het
Esrra C A 19: 6,912,732 W98C probably damaging Het
Ganab A G 19: 8,914,694 probably benign Het
Gcnt3 G T 9: 70,034,457 H276Q probably benign Het
Gm16506 A G 14: 43,724,173 Y206H probably benign Het
Gm1966 C T 7: 106,603,051 noncoding transcript Het
Hkdc1 T A 10: 62,393,859 N680Y probably damaging Het
Ighe A C 12: 113,271,391 L383R unknown Het
Lgals9 T G 11: 78,973,151 D56A probably damaging Het
Marveld3 G A 8: 109,962,073 T12I possibly damaging Het
Nab2 A T 10: 127,665,103 L40Q probably damaging Het
Naip6 T C 13: 100,303,290 E323G probably benign Het
Nubpl T A 12: 52,271,070 V182E possibly damaging Het
Olfr1206 T A 2: 88,865,520 M305K probably benign Het
Olfr1414 A G 1: 92,511,252 Y259H probably damaging Het
Olfr697 A G 7: 106,741,499 V145A probably benign Het
Peg3 A G 7: 6,711,653 I190T probably damaging Het
Plcl1 G A 1: 55,696,396 V299M possibly damaging Het
Ppp4r1 G A 17: 65,813,527 E219K probably damaging Het
Sh3d19 G A 3: 86,098,185 A280T probably benign Het
Srebf2 A G 15: 82,177,462 I370V probably benign Het
Tfb2m A G 1: 179,532,130 probably benign Het
Ttll7 T G 3: 146,909,599 S273A possibly damaging Het
Unc79 A G 12: 103,108,685 N1401D probably damaging Het
Vmn2r115 T A 17: 23,359,781 S743T probably damaging Het
Zfand4 G A 6: 116,314,869 R588Q probably benign Het
Other mutations in Clstn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01068:Clstn3 APN 6 124462139 missense probably damaging 1.00
IGL01521:Clstn3 APN 6 124458031 nonsense probably null
IGL01537:Clstn3 APN 6 124431600 missense possibly damaging 0.91
IGL01729:Clstn3 APN 6 124449794 missense probably benign 0.06
IGL01879:Clstn3 APN 6 124438810 missense probably damaging 1.00
IGL01998:Clstn3 APN 6 124458663 missense probably damaging 1.00
IGL03130:Clstn3 APN 6 124459263 missense probably damaging 0.98
IGL03405:Clstn3 APN 6 124438368 missense possibly damaging 0.95
PIT4403001:Clstn3 UTSW 6 124458023 missense probably damaging 1.00
R0049:Clstn3 UTSW 6 124459853 missense possibly damaging 0.87
R0049:Clstn3 UTSW 6 124459853 missense possibly damaging 0.87
R0208:Clstn3 UTSW 6 124432169 splice site probably benign
R0276:Clstn3 UTSW 6 124431740 splice site probably benign
R0440:Clstn3 UTSW 6 124451413 missense probably damaging 1.00
R0612:Clstn3 UTSW 6 124449500 missense probably damaging 0.98
R1200:Clstn3 UTSW 6 124459170 missense probably damaging 1.00
R1224:Clstn3 UTSW 6 124457919 missense probably benign
R1378:Clstn3 UTSW 6 124438419 missense probably damaging 1.00
R1491:Clstn3 UTSW 6 124437490 missense possibly damaging 0.51
R1495:Clstn3 UTSW 6 124449917 missense probably benign 0.00
R1511:Clstn3 UTSW 6 124462169 missense probably damaging 1.00
R1655:Clstn3 UTSW 6 124437427 missense probably damaging 1.00
R1731:Clstn3 UTSW 6 124431632 missense probably benign 0.04
R1734:Clstn3 UTSW 6 124436814 splice site probably benign
R1751:Clstn3 UTSW 6 124431999 missense probably damaging 1.00
R1954:Clstn3 UTSW 6 124459298 missense possibly damaging 0.94
R2133:Clstn3 UTSW 6 124449503 missense probably benign
R2192:Clstn3 UTSW 6 124459207 missense probably damaging 1.00
R2314:Clstn3 UTSW 6 124450717 missense probably benign 0.39
R2874:Clstn3 UTSW 6 124438335 missense probably damaging 1.00
R3500:Clstn3 UTSW 6 124431711 missense probably benign 0.01
R3761:Clstn3 UTSW 6 124457876 missense possibly damaging 0.54
R3878:Clstn3 UTSW 6 124457942 missense probably damaging 0.97
R3927:Clstn3 UTSW 6 124451368 missense probably damaging 1.00
R3934:Clstn3 UTSW 6 124457942 missense probably damaging 0.97
R3935:Clstn3 UTSW 6 124457942 missense probably damaging 0.97
R4063:Clstn3 UTSW 6 124449833 missense possibly damaging 0.51
R4402:Clstn3 UTSW 6 124456980 missense probably damaging 0.96
R4534:Clstn3 UTSW 6 124459220 missense probably damaging 1.00
R4785:Clstn3 UTSW 6 124437372 splice site probably null
R4834:Clstn3 UTSW 6 124431953 splice site probably null
R5921:Clstn3 UTSW 6 124431580 utr 3 prime probably benign
R5932:Clstn3 UTSW 6 124438332 missense probably benign 0.01
R6025:Clstn3 UTSW 6 124431664 missense possibly damaging 0.73
R6101:Clstn3 UTSW 6 124461670 missense probably damaging 1.00
R6360:Clstn3 UTSW 6 124438429 missense possibly damaging 0.88
R6578:Clstn3 UTSW 6 124450704 critical splice donor site probably null
R6813:Clstn3 UTSW 6 124436935 missense probably benign 0.00
R7380:Clstn3 UTSW 6 124456989 missense probably benign 0.01
R7419:Clstn3 UTSW 6 124458129 missense probably benign 0.05
R7625:Clstn3 UTSW 6 124437418 nonsense probably null
R7780:Clstn3 UTSW 6 124462202 missense probably damaging 0.98
R7936:Clstn3 UTSW 6 124432013 missense possibly damaging 0.73
R7939:Clstn3 UTSW 6 124462199 missense probably damaging 1.00
R8047:Clstn3 UTSW 6 124432013 missense possibly damaging 0.73
R8079:Clstn3 UTSW 6 124459804 missense probably damaging 1.00
R8085:Clstn3 UTSW 6 124458724 missense probably benign 0.23
R8299:Clstn3 UTSW 6 124437373 critical splice donor site probably null
R8406:Clstn3 UTSW 6 124462177 missense probably damaging 1.00
RF014:Clstn3 UTSW 6 124459266 nonsense probably null
X0066:Clstn3 UTSW 6 124449811 missense probably benign 0.13
Z1176:Clstn3 UTSW 6 124459200 missense probably damaging 1.00
Z1177:Clstn3 UTSW 6 124449781 missense probably damaging 0.99
Posted On2013-11-05