Incidental Mutation 'R3120:Sybu'
| ID |
263194 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sybu
|
| Ensembl Gene |
ENSMUSG00000022340 |
| Gene Name |
syntabulin (syntaxin-interacting) |
| Synonyms |
5730410E15Rik, A830027B17Rik, Golsyn/Syntabulin |
| MMRRC Submission |
040593-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.426)
|
| Stock # |
R3120 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
44535252-44651459 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44536355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 657
(D657G)
|
| 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: D657G
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000087511
Gene: ENSMUSG00000022340
AA Change: D657G
| 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: D529G
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000105896
Gene: ENSMUSG00000022340
AA Change: D529G
| 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: D457G
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105898
Gene: ENSMUSG00000022340
AA Change: D457G
| 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: D528G
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228057
AA Change: D529G
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bsx |
A |
G |
9: 40,788,908 (GRCm39) |
K155R |
possibly damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,891,987 (GRCm39) |
K162E |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dnah1 |
G |
A |
14: 30,988,779 (GRCm39) |
R3351* |
probably null |
Het |
| Eml1 |
A |
G |
12: 108,479,312 (GRCm39) |
R362G |
probably benign |
Het |
| Fam222b |
T |
C |
11: 78,044,742 (GRCm39) |
L101P |
probably damaging |
Het |
| Fars2 |
A |
G |
13: 36,430,400 (GRCm39) |
E276G |
probably damaging |
Het |
| Gatad1 |
G |
T |
5: 3,691,456 (GRCm39) |
Y33* |
probably null |
Het |
| Gclc |
A |
C |
9: 77,688,552 (GRCm39) |
E219A |
possibly damaging |
Het |
| Gm4846 |
A |
G |
1: 166,319,117 (GRCm39) |
V207A |
probably benign |
Het |
| H1f5 |
A |
T |
13: 21,964,215 (GRCm39) |
S170R |
probably benign |
Het |
| Hbq1a |
T |
C |
11: 32,250,472 (GRCm39) |
L87P |
probably damaging |
Het |
| Magea6 |
A |
T |
X: 153,707,291 (GRCm39) |
I255N |
probably benign |
Het |
| Mfsd12 |
T |
G |
10: 81,197,049 (GRCm39) |
V206G |
probably benign |
Het |
| Mis18bp1 |
T |
C |
12: 65,203,762 (GRCm39) |
|
probably null |
Het |
| Nf1 |
C |
A |
11: 79,455,725 (GRCm39) |
T550K |
probably damaging |
Het |
| Nlrp4f |
T |
C |
13: 65,342,530 (GRCm39) |
T372A |
probably benign |
Het |
| Or5p70 |
T |
C |
7: 107,994,930 (GRCm39) |
I201T |
possibly damaging |
Het |
| Pkdcc |
T |
C |
17: 83,527,466 (GRCm39) |
Y215H |
probably damaging |
Het |
| Plekha5 |
A |
G |
6: 140,537,367 (GRCm39) |
T253A |
probably benign |
Het |
| Polr2f |
T |
A |
15: 79,028,788 (GRCm39) |
|
probably null |
Het |
| Prph2 |
C |
T |
17: 47,234,298 (GRCm39) |
A289V |
possibly damaging |
Het |
| Ptdss2 |
C |
T |
7: 140,732,132 (GRCm39) |
H140Y |
probably damaging |
Het |
| Rlf |
T |
A |
4: 121,006,680 (GRCm39) |
I877L |
probably benign |
Het |
| Scgb2b2 |
T |
C |
7: 31,003,001 (GRCm39) |
L32S |
possibly damaging |
Het |
| Sfpq |
T |
A |
4: 126,915,926 (GRCm39) |
H239Q |
unknown |
Het |
| St6gal2 |
A |
T |
17: 55,789,111 (GRCm39) |
R48S |
probably benign |
Het |
| Syt15 |
A |
G |
14: 33,944,950 (GRCm39) |
I166V |
probably benign |
Het |
| Taar7f |
C |
A |
10: 23,925,478 (GRCm39) |
T24K |
probably benign |
Het |
| Tbcd |
T |
C |
11: 121,499,474 (GRCm39) |
S1093P |
probably damaging |
Het |
| Tfap2c |
G |
A |
2: 172,399,015 (GRCm39) |
V396M |
possibly damaging |
Het |
| Tnxb |
C |
T |
17: 34,911,329 (GRCm39) |
T1544I |
possibly damaging |
Het |
| Trim28 |
A |
G |
7: 12,762,341 (GRCm39) |
T322A |
probably damaging |
Het |
| Tubgcp3 |
G |
A |
8: 12,707,626 (GRCm39) |
A121V |
possibly damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,372,431 (GRCm39) |
W20R |
probably null |
Het |
| Zfp551 |
A |
G |
7: 12,149,943 (GRCm39) |
F489L |
possibly damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTAGGCTGCAAAATCTAGC -3'
(R):5'- AGATGAGATGGTGACTGCCAC -3'
Sequencing Primer
(F):5'- AAATCTAGCTCTCTCATGAGGCG -3'
(R):5'- CACAGAATCCAGTGGCCTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation