Incidental Mutation 'R7044:Sybu'
ID |
547229 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sybu
|
Ensembl Gene |
ENSMUSG00000022340 |
Gene Name |
syntabulin (syntaxin-interacting) |
Synonyms |
5730410E15Rik, A830027B17Rik, Golsyn/Syntabulin |
MMRRC Submission |
045143-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.426)
|
Stock # |
R7044 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
44535252-44651459 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 44541091 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 324
(S324T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087511
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090057]
[ENSMUST00000110267]
[ENSMUST00000110269]
[ENSMUST00000226214]
[ENSMUST00000227305]
[ENSMUST00000228057]
|
AlphaFold |
Q8BHS8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090057
AA Change: S324T
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000087511 Gene: ENSMUSG00000022340 AA Change: S324T
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: S196T
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000105896 Gene: ENSMUSG00000022340 AA Change: S196T
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 |
possibly damaging
Transcript: ENSMUST00000110269
AA Change: S124T
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000105898 Gene: ENSMUSG00000022340 AA Change: S124T
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 |
possibly damaging
Transcript: ENSMUST00000227305
AA Change: S195T
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228057
AA Change: S196T
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
98% (40/41) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd6 |
T |
A |
4: 32,815,260 (GRCm39) |
Q448L |
possibly damaging |
Het |
Appl1 |
A |
G |
14: 26,650,634 (GRCm39) |
S513P |
possibly damaging |
Het |
Cdhr2 |
A |
T |
13: 54,881,134 (GRCm39) |
K1066* |
probably null |
Het |
Ckap5 |
T |
C |
2: 91,407,946 (GRCm39) |
I824T |
probably benign |
Het |
Cracdl |
C |
T |
1: 37,651,361 (GRCm39) |
D1169N |
possibly damaging |
Het |
Ctbp2 |
T |
C |
7: 132,616,831 (GRCm39) |
R35G |
possibly damaging |
Het |
Dcdc2c |
T |
C |
12: 28,520,493 (GRCm39) |
|
probably benign |
Het |
Eya1 |
T |
A |
1: 14,301,634 (GRCm39) |
|
probably null |
Het |
Fat4 |
G |
C |
3: 39,064,959 (GRCm39) |
A4972P |
probably benign |
Het |
Fat4 |
C |
T |
3: 39,064,960 (GRCm39) |
A4972V |
probably benign |
Het |
Fbxl8 |
T |
A |
8: 105,993,647 (GRCm39) |
M1K |
probably null |
Het |
Glyat |
T |
C |
19: 12,627,629 (GRCm39) |
S75P |
probably benign |
Het |
Gm3543 |
T |
A |
14: 41,802,023 (GRCm39) |
I154F |
probably damaging |
Het |
Gm4565 |
T |
A |
7: 22,282,795 (GRCm39) |
M8L |
probably benign |
Het |
Gpr179 |
T |
C |
11: 97,240,616 (GRCm39) |
Q269R |
probably benign |
Het |
Hjv |
C |
A |
3: 96,434,790 (GRCm39) |
H176Q |
possibly damaging |
Het |
Ikzf2 |
T |
C |
1: 69,578,060 (GRCm39) |
H483R |
possibly damaging |
Het |
Il25 |
G |
A |
14: 55,170,615 (GRCm39) |
A63T |
probably benign |
Het |
Krt27 |
T |
A |
11: 99,237,640 (GRCm39) |
N366I |
probably benign |
Het |
Mfge8 |
A |
G |
7: 78,792,268 (GRCm39) |
V219A |
probably benign |
Het |
Nrbp1 |
T |
C |
5: 31,407,290 (GRCm39) |
V373A |
probably damaging |
Het |
Or4c100 |
A |
G |
2: 88,356,830 (GRCm39) |
N301S |
probably benign |
Het |
Otulinl |
A |
G |
15: 27,657,321 (GRCm39) |
|
probably benign |
Het |
Pcdh20 |
A |
G |
14: 88,706,607 (GRCm39) |
I231T |
probably damaging |
Het |
Pfkp |
A |
G |
13: 6,631,603 (GRCm39) |
W151R |
probably damaging |
Het |
Pikfyve |
T |
C |
1: 65,286,013 (GRCm39) |
I1084T |
probably benign |
Het |
Poteg |
T |
C |
8: 27,939,923 (GRCm39) |
C27R |
probably damaging |
Het |
Ptprz1 |
G |
A |
6: 23,044,345 (GRCm39) |
V1266M |
probably damaging |
Het |
Rpa1 |
T |
C |
11: 75,203,628 (GRCm39) |
D358G |
probably damaging |
Het |
Slx9 |
T |
C |
10: 77,350,226 (GRCm39) |
D35G |
possibly damaging |
Het |
Snapc4 |
A |
G |
2: 26,259,965 (GRCm39) |
S495P |
probably damaging |
Het |
Surf6 |
A |
G |
2: 26,789,368 (GRCm39) |
I123T |
probably damaging |
Het |
Trim3 |
A |
T |
7: 105,267,421 (GRCm39) |
S319R |
probably damaging |
Het |
Trmt11 |
A |
G |
10: 30,466,930 (GRCm39) |
F72L |
probably benign |
Het |
Tsks |
C |
T |
7: 44,593,216 (GRCm39) |
R61W |
probably damaging |
Het |
Ube2k |
T |
C |
5: 65,738,772 (GRCm39) |
V36A |
possibly damaging |
Het |
Ube3a |
T |
C |
7: 58,938,161 (GRCm39) |
V688A |
probably damaging |
Het |
Vegfc |
A |
G |
8: 54,610,080 (GRCm39) |
K79E |
possibly damaging |
Het |
Vmn1r77 |
G |
A |
7: 11,775,761 (GRCm39) |
R179Q |
probably benign |
Het |
Vmn2r97 |
T |
A |
17: 19,134,629 (GRCm39) |
F16I |
probably benign |
Het |
Zfp451 |
A |
T |
1: 33,841,248 (GRCm39) |
|
probably benign |
Het |
Zfp600 |
C |
T |
4: 146,131,892 (GRCm39) |
Q187* |
probably null |
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 |
R6977:Sybu
|
UTSW |
15 |
44,541,091 (GRCm39) |
missense |
probably benign |
0.00 |
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'- CAGCATTCAATTAGGAGGCAAC -3'
(R):5'- TGCTCATGATACAAGGAGAGC -3'
Sequencing Primer
(F):5'- GCAACTGGGGACTTACCTC -3'
(R):5'- GCAAATATCAGTGGCCATATGC -3'
|
Posted On |
2019-05-13 |