Incidental Mutation 'R6977:Sybu'
ID |
542531 |
Institutional Source |
Beutler Lab
|
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: 0.426)
|
Stock # |
R6977 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
44535252-44651459 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44541091 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 324
(S324P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087511
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090057]
[ENSMUST00000110267]
[ENSMUST00000110269]
[ENSMUST00000226214]
[ENSMUST00000227305]
[ENSMUST00000228057]
|
AlphaFold |
Q8BHS8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090057
AA Change: S324P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000087511 Gene: ENSMUSG00000022340 AA Change: S324P
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 benign
Transcript: ENSMUST00000110267
AA Change: S196P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000105896 Gene: ENSMUSG00000022340 AA Change: S196P
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 benign
Transcript: ENSMUST00000110269
AA Change: S124P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000105898 Gene: ENSMUSG00000022340 AA Change: S124P
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 |
probably benign
Transcript: ENSMUST00000227305
AA Change: S195P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228057
AA Change: S196P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921517D22Rik |
G |
A |
13: 59,839,394 (GRCm39) |
S17L |
possibly damaging |
Het |
Acap2 |
G |
T |
16: 30,936,079 (GRCm39) |
T336K |
probably damaging |
Het |
Angptl7 |
A |
T |
4: 148,581,850 (GRCm39) |
W179R |
probably damaging |
Het |
Atp9b |
A |
G |
18: 80,796,317 (GRCm39) |
F909L |
probably damaging |
Het |
BC051665 |
A |
T |
13: 60,932,486 (GRCm39) |
Y66* |
probably null |
Het |
C8b |
A |
G |
4: 104,644,193 (GRCm39) |
T287A |
possibly damaging |
Het |
Camk2a |
G |
A |
18: 61,093,076 (GRCm39) |
G301E |
probably damaging |
Het |
Ccdc186 |
A |
G |
19: 56,787,219 (GRCm39) |
M583T |
probably benign |
Het |
Cd55b |
T |
A |
1: 130,347,528 (GRCm39) |
K94N |
probably damaging |
Het |
Celsr3 |
T |
C |
9: 108,704,914 (GRCm39) |
S466P |
probably benign |
Het |
Cep152 |
A |
G |
2: 125,410,742 (GRCm39) |
|
probably null |
Het |
Cep70 |
A |
G |
9: 99,173,729 (GRCm39) |
D420G |
probably damaging |
Het |
Cnih4 |
T |
C |
1: 180,989,713 (GRCm39) |
S48P |
possibly damaging |
Het |
Cpne8 |
T |
C |
15: 90,381,294 (GRCm39) |
K507E |
probably benign |
Het |
Cyp2b23 |
T |
C |
7: 26,380,745 (GRCm39) |
Y160C |
possibly damaging |
Het |
Dnah9 |
C |
A |
11: 65,998,735 (GRCm39) |
M1104I |
probably benign |
Het |
Fam135a |
T |
A |
1: 24,093,179 (GRCm39) |
N149I |
probably damaging |
Het |
Fbxl4 |
A |
T |
4: 22,376,930 (GRCm39) |
Q122L |
probably benign |
Het |
Gm11232 |
T |
C |
4: 71,676,178 (GRCm39) |
|
probably benign |
Het |
Gm5901 |
A |
G |
7: 105,026,367 (GRCm39) |
Y45C |
probably benign |
Het |
Gsap |
A |
T |
5: 21,476,219 (GRCm39) |
I553F |
probably damaging |
Het |
Ifih1 |
A |
G |
2: 62,436,530 (GRCm39) |
F631S |
probably damaging |
Het |
Kics2 |
A |
G |
10: 121,581,371 (GRCm39) |
H124R |
probably damaging |
Het |
Kif21a |
T |
C |
15: 90,865,040 (GRCm39) |
D544G |
probably damaging |
Het |
Klc2 |
G |
A |
19: 5,159,393 (GRCm39) |
R552C |
probably damaging |
Het |
Lamp1 |
T |
C |
8: 13,223,661 (GRCm39) |
V293A |
probably damaging |
Het |
Muc16 |
T |
A |
9: 18,556,633 (GRCm39) |
D3220V |
unknown |
Het |
Myb |
A |
T |
10: 21,028,551 (GRCm39) |
I104K |
probably damaging |
Het |
Mycbp2 |
C |
A |
14: 103,392,342 (GRCm39) |
R3227L |
probably damaging |
Het |
Ncapd2 |
A |
T |
6: 125,148,472 (GRCm39) |
L1053Q |
probably damaging |
Het |
Nelfe |
T |
A |
17: 35,073,688 (GRCm39) |
V316E |
probably damaging |
Het |
Noxred1 |
T |
C |
12: 87,268,091 (GRCm39) |
I347V |
probably null |
Het |
Or8g50 |
A |
G |
9: 39,648,330 (GRCm39) |
Y73C |
probably benign |
Het |
Plekha7 |
A |
G |
7: 115,735,202 (GRCm39) |
V1033A |
probably benign |
Het |
Plekhh1 |
G |
C |
12: 79,112,491 (GRCm39) |
W589C |
probably damaging |
Het |
Ppp6r3 |
A |
T |
19: 3,517,272 (GRCm39) |
F658L |
probably damaging |
Het |
Prss55 |
A |
G |
14: 64,316,785 (GRCm39) |
M119T |
probably damaging |
Het |
Rab28 |
G |
A |
5: 41,855,735 (GRCm39) |
Q87* |
probably null |
Het |
Rsf1 |
GGCG |
GGCGACGGCAGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Sdr16c6 |
A |
T |
4: 4,076,865 (GRCm39) |
F11L |
probably benign |
Het |
Serpinb5 |
T |
G |
1: 106,800,077 (GRCm39) |
V89G |
probably benign |
Het |
Slc12a9 |
A |
T |
5: 137,314,075 (GRCm39) |
V628E |
probably damaging |
Het |
Slc25a34 |
G |
A |
4: 141,347,809 (GRCm39) |
R291C |
probably damaging |
Het |
Slmap |
C |
T |
14: 26,254,574 (GRCm39) |
R36H |
probably damaging |
Het |
Syk |
A |
T |
13: 52,787,094 (GRCm39) |
M363L |
probably benign |
Het |
Tecpr2 |
T |
C |
12: 110,906,200 (GRCm39) |
V934A |
probably benign |
Het |
Thpo |
A |
G |
16: 20,544,433 (GRCm39) |
L200P |
probably damaging |
Het |
Tiam2 |
T |
A |
17: 3,568,934 (GRCm39) |
S1693R |
probably damaging |
Het |
Usp48 |
A |
G |
4: 137,377,671 (GRCm39) |
D232G |
probably damaging |
Het |
Wasf1 |
A |
G |
10: 40,802,581 (GRCm39) |
S79G |
probably damaging |
Het |
Zfp90 |
G |
T |
8: 107,151,948 (GRCm39) |
D554Y |
probably damaging |
Het |
Zfp90 |
A |
T |
8: 107,151,949 (GRCm39) |
D554V |
probably damaging |
Het |
Zic5 |
T |
C |
14: 122,696,960 (GRCm39) |
T552A |
unknown |
Het |
Zic5 |
CGACGAGTAG |
C |
14: 122,696,967 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Sybu |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01453:Sybu
|
APN |
15 |
44,536,201 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAGCATTCAATTAGGAGGCAAC -3'
(R):5'- TGCTCATGATACAAGGAGAGC -3'
Sequencing Primer
(F):5'- GCAACTGGGGACTTACCTC -3'
(R):5'- GCAAATATCAGTGGCCATATGC -3'
|
Posted On |
2018-11-28 |