Incidental Mutation 'R7044:Sybu'
| ID |
547229 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sybu
|
| Ensembl Gene |
ENSMUSG00000022340 |
| Gene Name |
syntabulin (syntaxin-interacting) |
| Synonyms |
A830027B17Rik, Golsyn/Syntabulin, 5730410E15Rik |
| MMRRC Submission |
045143-MU
|
| Accession Numbers |
Genbank: NM_176998 ; MGI: 2442392 |
| Essential gene? |
Possibly essential
(E-score: 0.525)
|
| Stock # |
R7044 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
44671856-44788063 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44677695 bp (GRCm38)
|
| 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 |
|---|
| 2010300C02Rik |
C |
T |
1: 37,612,280 (GRCm38) |
D1169N |
possibly damaging |
Het |
| Ankrd6 |
T |
A |
4: 32,815,260 (GRCm38) |
Q448L |
possibly damaging |
Het |
| Appl1 |
A |
G |
14: 26,928,677 (GRCm38) |
S513P |
possibly damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,733,321 (GRCm38) |
K1066* |
probably null |
Het |
| Ckap5 |
T |
C |
2: 91,577,601 (GRCm38) |
I824T |
probably benign |
Het |
| Ctbp2 |
T |
C |
7: 133,015,102 (GRCm38) |
R35G |
possibly damaging |
Het |
| Dcdc2c |
T |
C |
12: 28,470,494 (GRCm38) |
|
probably benign |
Het |
| Eya1 |
T |
A |
1: 14,231,410 (GRCm38) |
|
probably null |
Het |
| Fam105a |
A |
G |
15: 27,657,235 (GRCm38) |
|
probably benign |
Het |
| Fam207a |
T |
C |
10: 77,514,392 (GRCm38) |
D35G |
possibly damaging |
Het |
| Fat4 |
G |
C |
3: 39,010,810 (GRCm38) |
A4972P |
probably benign |
Het |
| Fat4 |
C |
T |
3: 39,010,811 (GRCm38) |
A4972V |
probably benign |
Het |
| Fbxl8 |
T |
A |
8: 105,267,015 (GRCm38) |
M1K |
probably null |
Het |
| Glyat |
T |
C |
19: 12,650,265 (GRCm38) |
S75P |
probably benign |
Het |
| Gm3543 |
T |
A |
14: 41,980,066 (GRCm38) |
I154F |
probably damaging |
Het |
| Gm4565 |
T |
A |
7: 22,583,370 (GRCm38) |
M8L |
probably benign |
Het |
| Gpr179 |
T |
C |
11: 97,349,790 (GRCm38) |
Q269R |
probably benign |
Het |
| Hfe2 |
C |
A |
3: 96,527,474 (GRCm38) |
H176Q |
possibly damaging |
Het |
| Ikzf2 |
T |
C |
1: 69,538,901 (GRCm38) |
H483R |
possibly damaging |
Het |
| Il25 |
G |
A |
14: 54,933,158 (GRCm38) |
A63T |
probably benign |
Het |
| Krt27 |
T |
A |
11: 99,346,814 (GRCm38) |
N366I |
probably benign |
Het |
| Mfge8 |
A |
G |
7: 79,142,520 (GRCm38) |
V219A |
probably benign |
Het |
| Nrbp1 |
T |
C |
5: 31,249,946 (GRCm38) |
V373A |
probably damaging |
Het |
| Olfr1186 |
A |
G |
2: 88,526,486 (GRCm38) |
N301S |
probably benign |
Het |
| Pcdh20 |
A |
G |
14: 88,469,171 (GRCm38) |
I231T |
probably damaging |
Het |
| Pfkp |
A |
G |
13: 6,581,567 (GRCm38) |
W151R |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,246,854 (GRCm38) |
I1084T |
probably benign |
Het |
| Poteg |
T |
C |
8: 27,449,895 (GRCm38) |
C27R |
probably damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,044,346 (GRCm38) |
V1266M |
probably damaging |
Het |
| Rpa1 |
T |
C |
11: 75,312,802 (GRCm38) |
D358G |
probably damaging |
Het |
| Snapc4 |
A |
G |
2: 26,369,953 (GRCm38) |
S495P |
probably damaging |
Het |
| Surf6 |
A |
G |
2: 26,899,356 (GRCm38) |
I123T |
probably damaging |
Het |
| Trim3 |
A |
T |
7: 105,618,214 (GRCm38) |
S319R |
probably damaging |
Het |
| Trmt11 |
A |
G |
10: 30,590,934 (GRCm38) |
F72L |
probably benign |
Het |
| Tsks |
C |
T |
7: 44,943,792 (GRCm38) |
R61W |
probably damaging |
Het |
| Ube2k |
T |
C |
5: 65,581,429 (GRCm38) |
V36A |
possibly damaging |
Het |
| Ube3a |
T |
C |
7: 59,288,413 (GRCm38) |
V688A |
probably damaging |
Het |
| Vegfc |
A |
G |
8: 54,157,045 (GRCm38) |
K79E |
possibly damaging |
Het |
| Vmn1r77 |
G |
A |
7: 12,041,834 (GRCm38) |
R179Q |
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 18,914,367 (GRCm38) |
F16I |
probably benign |
Het |
| Zfp451 |
A |
T |
1: 33,802,167 (GRCm38) |
|
probably benign |
Het |
| Zfp600 |
C |
T |
4: 146,195,322 (GRCm38) |
Q187* |
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 |
|
R3720:Sybu
|
UTSW |
15 |
44,672,632 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
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 |
|
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'- CAGCATTCAATTAGGAGGCAAC -3'
(R):5'- TGCTCATGATACAAGGAGAGC -3'
Sequencing Primer
(F):5'- GCAACTGGGGACTTACCTC -3'
(R):5'- GCAAATATCAGTGGCCATATGC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation