Incidental Mutation 'IGL00983:Sdcbp'
| ID |
27355 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sdcbp
|
| Ensembl Gene |
ENSMUSG00000028249 |
| Gene Name |
syndecan binding protein |
| Synonyms |
syntenin-1, Sycl, MDA-9, syndecan interacting protein, syntenin |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
IGL00983
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
6365654-6396122 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 6392953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 197
(E197*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029910]
[ENSMUST00000029912]
[ENSMUST00000103008]
[ENSMUST00000108374]
[ENSMUST00000153861]
[ENSMUST00000175769]
|
| AlphaFold |
O08992 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029910
|
| SMART Domains |
Protein: ENSMUSP00000029910
Gene: ENSMUSG00000028245
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
28 |
N/A |
INTRINSIC |
|
GRAM
|
176 |
247 |
2.22e-11 |
SMART |
|
Beach
|
302 |
575 |
6.28e-190 |
SMART |
|
WD40
|
622 |
661 |
4.55e-3 |
SMART |
|
WD40
|
664 |
703 |
2.97e0 |
SMART |
|
WD40
|
706 |
743 |
1.47e-6 |
SMART |
|
WD40
|
756 |
794 |
1.7e-2 |
SMART |
|
WD40
|
797 |
836 |
1.02e-5 |
SMART |
|
WD40
|
839 |
875 |
9.55e0 |
SMART |
|
WD40
|
878 |
917 |
1.5e-3 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000029912
AA Change: E197*
|
| SMART Domains |
Protein: ENSMUSP00000029912
Gene: ENSMUSG00000028249
AA Change: E197*
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
124 |
195 |
7.09e-15 |
SMART |
|
PDZ
|
208 |
274 |
6.04e-9 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000103008
AA Change: E196*
|
| SMART Domains |
Protein: ENSMUSP00000100073
Gene: ENSMUSG00000028249
AA Change: E196*
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
123 |
194 |
7.09e-15 |
SMART |
|
PDZ
|
207 |
273 |
6.04e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108374
|
| SMART Domains |
Protein: ENSMUSP00000104011
Gene: ENSMUSG00000028249
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
124 |
195 |
2.84e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143704
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149015
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000153861
AA Change: E196*
|
| SMART Domains |
Protein: ENSMUSP00000119838
Gene: ENSMUSG00000028249
AA Change: E196*
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
123 |
194 |
7.09e-15 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000175769
AA Change: E197*
|
| SMART Domains |
Protein: ENSMUSP00000135777
Gene: ENSMUSG00000028249
AA Change: E197*
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
124 |
195 |
7.09e-15 |
SMART |
|
Blast:PDZ
|
208 |
249 |
1e-21 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156715
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was initially identified as a molecule linking syndecan-mediated signaling to the cytoskeleton. The syntenin protein contains tandemly repeated PDZ domains that bind the cytoplasmic, C-terminal domains of a variety of transmembrane proteins. This protein may also affect cytoskeletal-membrane organization, cell adhesion, protein trafficking, and the activation of transcription factors. The protein is primarily localized to membrane-associated adherens junctions and focal adhesions but is also found at the endoplasmic reticulum and nucleus. Alternative splicing results in multiple transcript variants encoding different isoforms. Related pseudogenes have been identified on multiple chromosomes. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice heterozygous for a conditional allele activated in neurons exhibit abnormal dendrite morphology and reduced mEPSC frequency. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
C |
T |
11: 58,771,438 (GRCm39) |
Q307* |
probably null |
Het |
| Acss3 |
A |
T |
10: 106,802,825 (GRCm39) |
C473* |
probably null |
Het |
| Adgrg1 |
T |
A |
8: 95,731,871 (GRCm39) |
S178T |
probably damaging |
Het |
| Anxa7 |
C |
A |
14: 20,508,749 (GRCm39) |
L386F |
possibly damaging |
Het |
| Calcrl |
T |
C |
2: 84,200,798 (GRCm39) |
E82G |
probably benign |
Het |
| Ccr9 |
C |
T |
9: 123,608,351 (GRCm39) |
P11L |
probably benign |
Het |
| Cep164 |
C |
A |
9: 45,686,554 (GRCm39) |
V887L |
possibly damaging |
Het |
| Dctn6 |
A |
G |
8: 34,559,747 (GRCm39) |
L136P |
probably damaging |
Het |
| Dnase1 |
T |
C |
16: 3,857,417 (GRCm39) |
V238A |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,486,427 (GRCm39) |
Y3304C |
probably damaging |
Het |
| Fbxo31 |
A |
T |
8: 122,281,069 (GRCm39) |
V359D |
possibly damaging |
Het |
| Gpr182 |
A |
G |
10: 127,586,657 (GRCm39) |
I98T |
possibly damaging |
Het |
| Gspt1 |
C |
T |
16: 11,048,861 (GRCm39) |
|
probably benign |
Het |
| Itgam |
C |
A |
7: 127,667,839 (GRCm39) |
T70K |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,212,479 (GRCm39) |
|
probably benign |
Het |
| Kank3 |
T |
A |
17: 34,040,791 (GRCm39) |
M458K |
probably damaging |
Het |
| Kcnd2 |
A |
G |
6: 21,714,153 (GRCm39) |
K379E |
possibly damaging |
Het |
| Macf1 |
C |
T |
4: 123,275,915 (GRCm39) |
V4206I |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,735,525 (GRCm39) |
L3397S |
probably damaging |
Het |
| Msh3 |
A |
T |
13: 92,436,785 (GRCm39) |
N508K |
probably damaging |
Het |
| Mttp |
C |
A |
3: 137,820,890 (GRCm39) |
|
probably benign |
Het |
| Nme5 |
G |
T |
18: 34,700,181 (GRCm39) |
Q155K |
probably benign |
Het |
| Or13p3 |
A |
T |
4: 118,567,119 (GRCm39) |
N172Y |
probably damaging |
Het |
| Or2r11 |
A |
T |
6: 42,437,029 (GRCm39) |
I308N |
probably benign |
Het |
| Or52b4i |
T |
A |
7: 102,191,593 (GRCm39) |
I150N |
possibly damaging |
Het |
| Pfkp |
A |
T |
13: 6,631,603 (GRCm39) |
W151R |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,794,585 (GRCm39) |
T1859S |
probably benign |
Het |
| Pmvk |
T |
C |
3: 89,374,890 (GRCm39) |
W96R |
probably damaging |
Het |
| Prdx6b |
T |
A |
2: 80,123,539 (GRCm39) |
M116K |
probably damaging |
Het |
| Ptpro |
A |
C |
6: 137,395,246 (GRCm39) |
L876F |
probably benign |
Het |
| Serpinb1c |
A |
T |
13: 33,068,207 (GRCm39) |
S188R |
possibly damaging |
Het |
| Sorcs1 |
A |
T |
19: 50,164,566 (GRCm39) |
D988E |
probably damaging |
Het |
| Tmbim1 |
C |
A |
1: 74,334,422 (GRCm39) |
G46V |
probably damaging |
Het |
| Ubl4b |
C |
T |
3: 107,461,756 (GRCm39) |
G168E |
unknown |
Het |
| Vmn2r91 |
T |
C |
17: 18,325,820 (GRCm39) |
F146S |
probably benign |
Het |
| Zdhhc20 |
T |
C |
14: 58,076,613 (GRCm39) |
N335D |
possibly damaging |
Het |
| Zzz3 |
T |
G |
3: 152,161,447 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Sdcbp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0158:Sdcbp
|
UTSW |
4 |
6,379,042 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1066:Sdcbp
|
UTSW |
4 |
6,385,120 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1115:Sdcbp
|
UTSW |
4 |
6,377,143 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1353:Sdcbp
|
UTSW |
4 |
6,381,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2006:Sdcbp
|
UTSW |
4 |
6,386,536 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4879:Sdcbp
|
UTSW |
4 |
6,381,056 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4979:Sdcbp
|
UTSW |
4 |
6,378,980 (GRCm39) |
nonsense |
probably null |
|
|
R5034:Sdcbp
|
UTSW |
4 |
6,393,118 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5072:Sdcbp
|
UTSW |
4 |
6,393,019 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6307:Sdcbp
|
UTSW |
4 |
6,385,059 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6329:Sdcbp
|
UTSW |
4 |
6,381,064 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7483:Sdcbp
|
UTSW |
4 |
6,393,089 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7665:Sdcbp
|
UTSW |
4 |
6,385,144 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7722:Sdcbp
|
UTSW |
4 |
6,385,063 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7729:Sdcbp
|
UTSW |
4 |
6,378,985 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7807:Sdcbp
|
UTSW |
4 |
6,393,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8025:Sdcbp
|
UTSW |
4 |
6,393,022 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8941:Sdcbp
|
UTSW |
4 |
6,393,661 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9093:Sdcbp
|
UTSW |
4 |
6,386,709 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation