Incidental Mutation 'R3720:Sybu'
| ID |
258872 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sybu
|
| Ensembl Gene |
ENSMUSG00000022340 |
| Gene Name |
syntabulin (syntaxin-interacting) |
| Synonyms |
A830027B17Rik, Golsyn/Syntabulin, 5730410E15Rik |
| MMRRC Submission |
040711-MU
|
| Accession Numbers |
Genbank: NM_176998 ; MGI: 2442392 |
| Essential gene? |
Possibly essential
(E-score: 0.525)
|
| Stock # |
R3720 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
44671856-44788063 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44672632 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 766
(V766A)
|
| 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: V766A
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000087511
Gene: ENSMUSG00000022340
AA Change: V766A
| 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 |
possibly damaging
Transcript: ENSMUST00000110267
AA Change: V638A
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105896
Gene: ENSMUSG00000022340
AA Change: V638A
| 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: V566A
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000105898
Gene: ENSMUSG00000022340
AA Change: V566A
| 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 |
possibly damaging
Transcript: ENSMUST00000227305
AA Change: V637A
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228057
AA Change: V638A
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1054 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
93% (40/43) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Appl1 |
G |
A |
14: 26,927,844 (GRCm38) |
T575M |
probably damaging |
Het |
| Atp2c1 |
A |
T |
9: 105,422,976 (GRCm38) |
M708K |
probably damaging |
Het |
| C9 |
A |
G |
15: 6,483,119 (GRCm38) |
T241A |
possibly damaging |
Het |
| Ccrl2 |
T |
C |
9: 111,056,364 (GRCm38) |
D22G |
probably benign |
Het |
| Cd47 |
A |
G |
16: 49,867,842 (GRCm38) |
I42V |
probably benign |
Het |
| Cntnap5c |
T |
C |
17: 58,330,202 (GRCm38) |
S1025P |
probably benign |
Het |
| Col8a1 |
T |
C |
16: 57,626,916 (GRCm38) |
M744V |
unknown |
Het |
| Cstf3 |
A |
G |
2: 104,653,086 (GRCm38) |
|
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,854,898 (GRCm38) |
R4514H |
probably damaging |
Het |
| Dnaic1 |
G |
A |
4: 41,602,615 (GRCm38) |
R113H |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,454,572 (GRCm38) |
S410P |
probably damaging |
Het |
| Glt6d1 |
ACCC |
ACCCC |
2: 25,795,167 (GRCm38) |
|
probably null |
Het |
| Gm10717 |
A |
G |
9: 3,025,532 (GRCm38) |
Y39C |
probably benign |
Het |
| Hivep1 |
C |
T |
13: 42,158,601 (GRCm38) |
T1439I |
probably benign |
Het |
| Iqgap2 |
T |
C |
13: 95,668,528 (GRCm38) |
|
probably null |
Het |
| Kbtbd11 |
T |
A |
8: 15,029,118 (GRCm38) |
C572* |
probably null |
Het |
| Kif1c |
T |
C |
11: 70,703,771 (GRCm38) |
F86L |
possibly damaging |
Het |
| Kirrel |
C |
T |
3: 87,089,151 (GRCm38) |
M380I |
probably null |
Het |
| Ldb1 |
C |
T |
19: 46,044,892 (GRCm38) |
|
probably benign |
Het |
| Lrmda |
T |
A |
14: 22,027,331 (GRCm38) |
|
probably benign |
Het |
| Med23 |
T |
C |
10: 24,891,120 (GRCm38) |
L369S |
probably damaging |
Het |
| Mei1 |
A |
G |
15: 82,103,204 (GRCm38) |
H399R |
possibly damaging |
Het |
| Myo1b |
G |
T |
1: 51,776,346 (GRCm38) |
H614N |
possibly damaging |
Het |
| Neurl1b |
C |
T |
17: 26,414,975 (GRCm38) |
T4M |
probably damaging |
Het |
| Olfr1095 |
T |
C |
2: 86,851,591 (GRCm38) |
T36A |
probably benign |
Het |
| Olfr129 |
T |
C |
17: 38,055,368 (GRCm38) |
Y66C |
probably damaging |
Het |
| Polg |
G |
A |
7: 79,456,791 (GRCm38) |
Q163* |
probably null |
Het |
| Pramef8 |
A |
G |
4: 143,419,379 (GRCm38) |
T473A |
probably benign |
Het |
| Sdk2 |
G |
A |
11: 113,800,244 (GRCm38) |
P1835L |
probably damaging |
Het |
| Slc35a5 |
A |
T |
16: 45,147,322 (GRCm38) |
I138N |
probably damaging |
Het |
| Snx31 |
T |
C |
15: 36,523,558 (GRCm38) |
|
probably null |
Het |
| Speg |
A |
T |
1: 75,426,782 (GRCm38) |
H2590L |
probably damaging |
Het |
| Spink4 |
T |
A |
4: 40,929,136 (GRCm38) |
C54S |
probably damaging |
Het |
| Swap70 |
A |
G |
7: 110,270,047 (GRCm38) |
E349G |
probably damaging |
Het |
| Tns3 |
G |
A |
11: 8,492,999 (GRCm38) |
R455W |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,712,964 (GRCm38) |
V2157E |
possibly damaging |
Het |
| Trak2 |
A |
T |
1: 58,946,245 (GRCm38) |
|
probably null |
Het |
| Trav18 |
C |
T |
14: 53,831,617 (GRCm38) |
R39C |
possibly damaging |
Het |
| Uroc1 |
G |
A |
6: 90,346,355 (GRCm38) |
V352M |
probably damaging |
Het |
| Zfp106 |
A |
C |
2: 120,534,599 (GRCm38) |
I442M |
probably benign |
Het |
| Zfp935 |
G |
A |
13: 62,455,032 (GRCm38) |
Q98* |
probably null |
Het |
|
| Other mutations in Sybu |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01453:Sybu
|
APN |
15 |
44,672,805 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02211:Sybu
|
APN |
15 |
44,673,466 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02303:Sybu
|
APN |
15 |
44,673,223 (GRCm38) |
missense |
probably benign |
0.03 |
|
E7848:Sybu
|
UTSW |
15 |
44,673,422 (GRCm38) |
missense |
probably benign |
0.32 |
|
R0015:Sybu
|
UTSW |
15 |
44,673,500 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0015:Sybu
|
UTSW |
15 |
44,673,500 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0064:Sybu
|
UTSW |
15 |
44,672,993 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0064:Sybu
|
UTSW |
15 |
44,672,993 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0413:Sybu
|
UTSW |
15 |
44,673,272 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0650:Sybu
|
UTSW |
15 |
44,673,268 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1147:Sybu
|
UTSW |
15 |
44,746,255 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1147:Sybu
|
UTSW |
15 |
44,746,255 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1307:Sybu
|
UTSW |
15 |
44,675,390 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1568:Sybu
|
UTSW |
15 |
44,718,832 (GRCm38) |
nonsense |
probably null |
|
|
R2112:Sybu
|
UTSW |
15 |
44,673,335 (GRCm38) |
missense |
probably benign |
0.06 |
|
R2967:Sybu
|
UTSW |
15 |
44,746,356 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3120:Sybu
|
UTSW |
15 |
44,672,959 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R3429:Sybu
|
UTSW |
15 |
44,746,458 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3508:Sybu
|
UTSW |
15 |
44,673,082 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4080:Sybu
|
UTSW |
15 |
44,718,943 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4898:Sybu
|
UTSW |
15 |
44,675,499 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4975:Sybu
|
UTSW |
15 |
44,677,667 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5066:Sybu
|
UTSW |
15 |
44,677,644 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5783:Sybu
|
UTSW |
15 |
44,746,414 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5913:Sybu
|
UTSW |
15 |
44,787,621 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6977:Sybu
|
UTSW |
15 |
44,677,695 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7044:Sybu
|
UTSW |
15 |
44,677,695 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R7139:Sybu
|
UTSW |
15 |
44,677,714 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7328:Sybu
|
UTSW |
15 |
44,787,794 (GRCm38) |
missense |
not run |
|
|
R7543:Sybu
|
UTSW |
15 |
44,683,452 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R7851:Sybu
|
UTSW |
15 |
44,746,456 (GRCm38) |
nonsense |
probably null |
|
|
R7909:Sybu
|
UTSW |
15 |
44,673,037 (GRCm38) |
nonsense |
probably null |
|
|
R8823:Sybu
|
UTSW |
15 |
44,677,602 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R9326:Sybu
|
UTSW |
15 |
44,673,623 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Sybu
|
UTSW |
15 |
44,673,062 (GRCm38) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCTTCAACTGACTATAGTGC -3'
(R):5'- AGCTAGATTTTGCAGCCTACAC -3'
Sequencing Primer
(F):5'- GGCTTCAACTGACTATAGTGCAAATC -3'
(R):5'- GCTAGATTTTGCAGCCTACACAGAAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation