Incidental Mutation 'IGL01453:Sybu'
| ID |
84708 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sybu
|
| Ensembl Gene |
ENSMUSG00000022340 |
| Gene Name |
syntabulin (syntaxin-interacting) |
| Synonyms |
5730410E15Rik, A830027B17Rik, Golsyn/Syntabulin |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.458)
|
| Stock # |
IGL01453
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
44535252-44651459 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44536201 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 508
(D508E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090057]
[ENSMUST00000110267]
[ENSMUST00000110269]
[ENSMUST00000226214]
[ENSMUST00000227305]
[ENSMUST00000228057]
|
| AlphaFold |
Q8BHS8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090057
AA Change: D708E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000087511
Gene: ENSMUSG00000022340
AA Change: D708E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
174 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
264 |
275 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
290 |
N/A |
INTRINSIC |
|
low complexity region
|
320 |
331 |
N/A |
INTRINSIC |
|
Pfam:Syntaphilin
|
343 |
638 |
3.5e-142 |
PFAM |
|
low complexity region
|
738 |
755 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110267
AA Change: D580E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105896
Gene: ENSMUSG00000022340
AA Change: D580E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
136 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
162 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
203 |
N/A |
INTRINSIC |
|
Pfam:Syntaphilin
|
214 |
511 |
5.8e-140 |
PFAM |
|
low complexity region
|
610 |
627 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110269
AA Change: D508E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105898
Gene: ENSMUSG00000022340
AA Change: D508E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
64 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
131 |
N/A |
INTRINSIC |
|
Pfam:Syntaphilin
|
142 |
439 |
4.4e-140 |
PFAM |
|
low complexity region
|
538 |
555 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226214
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226825
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227081
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227305
AA Change: D579E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228057
AA Change: D580E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Syntabulin/GOLSYN is part of a kinesin motor-adaptor complex that is critical for the anterograde axonal transport of active zone components and contributes to activity-dependent presynaptic assembly during neuronal development (Cai et al., 2007 [PubMed 17611281]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,353,834 (GRCm39) |
T3719A |
probably damaging |
Het |
| Abcb5 |
A |
G |
12: 118,831,705 (GRCm39) |
S1216P |
probably damaging |
Het |
| Abl1 |
A |
G |
2: 31,668,989 (GRCm39) |
T104A |
probably damaging |
Het |
| Adgrg6 |
A |
T |
10: 14,296,202 (GRCm39) |
M1066K |
possibly damaging |
Het |
| Armc1 |
T |
C |
3: 19,198,594 (GRCm39) |
N122S |
probably benign |
Het |
| Fat1 |
C |
T |
8: 45,504,307 (GRCm39) |
T4600M |
probably damaging |
Het |
| Hrh1 |
T |
A |
6: 114,458,123 (GRCm39) |
I468N |
probably damaging |
Het |
| Krt34 |
A |
T |
11: 99,930,916 (GRCm39) |
L162Q |
probably damaging |
Het |
| Macrod2 |
A |
T |
2: 140,294,492 (GRCm39) |
|
probably benign |
Het |
| Mfsd9 |
C |
A |
1: 40,829,638 (GRCm39) |
|
probably benign |
Het |
| Nap1l1 |
C |
T |
10: 111,328,839 (GRCm39) |
T256I |
probably benign |
Het |
| Or12e1 |
A |
G |
2: 87,022,192 (GRCm39) |
I54V |
probably benign |
Het |
| Or5h22 |
T |
C |
16: 58,895,132 (GRCm39) |
I104V |
probably benign |
Het |
| Or6k4 |
A |
G |
1: 173,964,679 (GRCm39) |
Y123C |
possibly damaging |
Het |
| Pard6a |
T |
A |
8: 106,429,309 (GRCm39) |
|
probably null |
Het |
| Pmm2 |
G |
A |
16: 8,466,532 (GRCm39) |
R119Q |
probably damaging |
Het |
| Por |
C |
T |
5: 135,763,040 (GRCm39) |
Q517* |
probably null |
Het |
| Ppil6 |
T |
C |
10: 41,374,473 (GRCm39) |
I118T |
probably benign |
Het |
| Psg26 |
A |
G |
7: 18,213,999 (GRCm39) |
V221A |
possibly damaging |
Het |
| Ptpru |
C |
A |
4: 131,496,803 (GRCm39) |
|
probably benign |
Het |
| Rpl27a |
T |
A |
7: 109,118,832 (GRCm39) |
V15E |
probably benign |
Het |
| Setd1b |
T |
C |
5: 123,296,527 (GRCm39) |
|
probably benign |
Het |
| Slc17a1 |
A |
G |
13: 24,058,714 (GRCm39) |
N56S |
probably damaging |
Het |
| Tada2b |
A |
C |
5: 36,633,686 (GRCm39) |
N222K |
probably damaging |
Het |
| Tbcb |
T |
C |
7: 29,930,627 (GRCm39) |
|
probably null |
Het |
| Tmprss11f |
C |
A |
5: 86,692,691 (GRCm39) |
G78* |
probably null |
Het |
| Vmn2r65 |
T |
C |
7: 84,589,708 (GRCm39) |
Y736C |
probably damaging |
Het |
| Zc3h7a |
G |
A |
16: 10,967,242 (GRCm39) |
P517S |
probably benign |
Het |
| Zfp280d |
A |
G |
9: 72,229,868 (GRCm39) |
T392A |
possibly damaging |
Het |
| Zfp318 |
T |
A |
17: 46,719,942 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Sybu |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02211:Sybu
|
APN |
15 |
44,536,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02303:Sybu
|
APN |
15 |
44,536,619 (GRCm39) |
missense |
probably benign |
0.03 |
|
E7848:Sybu
|
UTSW |
15 |
44,536,818 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0015:Sybu
|
UTSW |
15 |
44,536,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0015:Sybu
|
UTSW |
15 |
44,536,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0064:Sybu
|
UTSW |
15 |
44,536,389 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0064:Sybu
|
UTSW |
15 |
44,536,389 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0413:Sybu
|
UTSW |
15 |
44,536,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0650:Sybu
|
UTSW |
15 |
44,536,664 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1147:Sybu
|
UTSW |
15 |
44,609,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1147:Sybu
|
UTSW |
15 |
44,609,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1307:Sybu
|
UTSW |
15 |
44,538,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1568:Sybu
|
UTSW |
15 |
44,582,228 (GRCm39) |
nonsense |
probably null |
|
|
R2112:Sybu
|
UTSW |
15 |
44,536,731 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2967:Sybu
|
UTSW |
15 |
44,609,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3120:Sybu
|
UTSW |
15 |
44,536,355 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3429:Sybu
|
UTSW |
15 |
44,609,854 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3508:Sybu
|
UTSW |
15 |
44,536,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3720:Sybu
|
UTSW |
15 |
44,536,028 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4080:Sybu
|
UTSW |
15 |
44,582,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4898:Sybu
|
UTSW |
15 |
44,538,895 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4975:Sybu
|
UTSW |
15 |
44,541,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5066:Sybu
|
UTSW |
15 |
44,541,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5783:Sybu
|
UTSW |
15 |
44,609,810 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5913:Sybu
|
UTSW |
15 |
44,651,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6977:Sybu
|
UTSW |
15 |
44,541,091 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7044:Sybu
|
UTSW |
15 |
44,541,091 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7139:Sybu
|
UTSW |
15 |
44,541,110 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7328:Sybu
|
UTSW |
15 |
44,651,190 (GRCm39) |
missense |
not run |
|
|
R7543:Sybu
|
UTSW |
15 |
44,546,848 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7851:Sybu
|
UTSW |
15 |
44,609,852 (GRCm39) |
nonsense |
probably null |
|
|
R7909:Sybu
|
UTSW |
15 |
44,536,433 (GRCm39) |
nonsense |
probably null |
|
|
R8823:Sybu
|
UTSW |
15 |
44,540,998 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9326:Sybu
|
UTSW |
15 |
44,537,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Sybu
|
UTSW |
15 |
44,536,458 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2013-11-11 |
Incidental Mutation