Incidental Mutation 'R6388:Syvn1'
| ID |
515657 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syvn1
|
| Ensembl Gene |
ENSMUSG00000024807 |
| Gene Name |
synovial apoptosis inhibitor 1, synoviolin |
| Synonyms |
Hrd1, 1200010C09Rik |
| MMRRC Submission |
044537-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6388 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6096606-6103742 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 6102381 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 483
(V483E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025723
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007482]
[ENSMUST00000025723]
[ENSMUST00000129081]
[ENSMUST00000134667]
[ENSMUST00000138532]
[ENSMUST00000156550]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007482
|
| SMART Domains |
Protein: ENSMUSP00000007482
Gene: ENSMUSG00000007338
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Img2
|
82 |
166 |
5.1e-31 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025723
AA Change: V483E
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000025723
Gene: ENSMUSG00000024807
AA Change: V483E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
transmembrane domain
|
45 |
67 |
N/A |
INTRINSIC |
|
transmembrane domain
|
103 |
120 |
N/A |
INTRINSIC |
|
transmembrane domain
|
124 |
146 |
N/A |
INTRINSIC |
|
transmembrane domain
|
159 |
181 |
N/A |
INTRINSIC |
|
RING
|
240 |
278 |
4.7e-10 |
SMART |
|
low complexity region
|
286 |
357 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
426 |
N/A |
INTRINSIC |
|
low complexity region
|
488 |
528 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129081
|
| SMART Domains |
Protein: ENSMUSP00000118698
Gene: ENSMUSG00000024807
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
25 |
N/A |
INTRINSIC |
|
transmembrane domain
|
45 |
67 |
N/A |
INTRINSIC |
|
transmembrane domain
|
103 |
120 |
N/A |
INTRINSIC |
|
transmembrane domain
|
135 |
157 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000134667
AA Change: V534E
|
| SMART Domains |
Protein: ENSMUSP00000114960
Gene: ENSMUSG00000024807
AA Change: V534E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
|
transmembrane domain
|
45 |
67 |
N/A |
INTRINSIC |
|
transmembrane domain
|
103 |
120 |
N/A |
INTRINSIC |
|
transmembrane domain
|
133 |
155 |
N/A |
INTRINSIC |
|
transmembrane domain
|
170 |
192 |
N/A |
INTRINSIC |
|
transmembrane domain
|
213 |
235 |
N/A |
INTRINSIC |
|
RING
|
291 |
329 |
9.74e-8 |
SMART |
|
low complexity region
|
337 |
408 |
N/A |
INTRINSIC |
|
low complexity region
|
416 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
539 |
579 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000138532
AA Change: V534E
|
| SMART Domains |
Protein: ENSMUSP00000114843
Gene: ENSMUSG00000024807
AA Change: V534E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
|
transmembrane domain
|
45 |
67 |
N/A |
INTRINSIC |
|
transmembrane domain
|
103 |
120 |
N/A |
INTRINSIC |
|
transmembrane domain
|
133 |
155 |
N/A |
INTRINSIC |
|
transmembrane domain
|
170 |
192 |
N/A |
INTRINSIC |
|
transmembrane domain
|
213 |
235 |
N/A |
INTRINSIC |
|
RING
|
291 |
329 |
9.74e-8 |
SMART |
|
low complexity region
|
337 |
408 |
N/A |
INTRINSIC |
|
low complexity region
|
416 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
539 |
579 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142101
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144328
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000156550
AA Change: V534E
|
| SMART Domains |
Protein: ENSMUSP00000121885
Gene: ENSMUSG00000024807
AA Change: V534E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
|
transmembrane domain
|
45 |
67 |
N/A |
INTRINSIC |
|
transmembrane domain
|
103 |
120 |
N/A |
INTRINSIC |
|
transmembrane domain
|
133 |
155 |
N/A |
INTRINSIC |
|
transmembrane domain
|
170 |
192 |
N/A |
INTRINSIC |
|
transmembrane domain
|
213 |
235 |
N/A |
INTRINSIC |
|
RING
|
291 |
329 |
9.74e-8 |
SMART |
|
low complexity region
|
337 |
408 |
N/A |
INTRINSIC |
|
low complexity region
|
416 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
539 |
573 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184338
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.8%
|
| Validation Efficiency |
100% (35/35) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in endoplasmic reticulum (ER)-associated degradation. The encoded protein removes unfolded proteins, accumulated during ER stress, by retrograde transport to the cytosol from the ER. This protein also uses the ubiquitin-proteasome system for additional degradation of unfolded proteins. Sequence analysis identified two transcript variants that encode different isoforms. [provided by RefSeq, May 2011]
PHENOTYPE: Haploinsufficiency results in embryonic death due to systemic abnormal apoptosis. Mice are viable when only a single copy is inactivated and they exhibit a resistance to collagen-induced arthritis due to enhanced apoptosis of synovial cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
T |
13: 77,410,230 (GRCm39) |
R560W |
probably benign |
Het |
| Abi3 |
A |
G |
11: 95,724,464 (GRCm39) |
|
probably null |
Het |
| Ap1b1 |
T |
C |
11: 4,976,319 (GRCm39) |
I449T |
probably damaging |
Het |
| Atpaf2 |
C |
A |
11: 60,307,833 (GRCm39) |
|
probably benign |
Het |
| Car5a |
T |
C |
8: 122,653,910 (GRCm39) |
Y118C |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,349,214 (GRCm39) |
D1002G |
possibly damaging |
Het |
| Ciao1 |
A |
T |
2: 127,088,396 (GRCm39) |
C142* |
probably null |
Het |
| Clec14a |
A |
G |
12: 58,314,243 (GRCm39) |
*460R |
probably null |
Het |
| Defb30 |
T |
A |
14: 63,287,213 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,906,710 (GRCm39) |
K4247R |
probably benign |
Het |
| Eif5b |
G |
A |
1: 38,058,081 (GRCm39) |
A128T |
unknown |
Het |
| Fam3b |
T |
C |
16: 97,279,591 (GRCm39) |
T113A |
probably benign |
Het |
| Fam98c |
C |
T |
7: 28,854,728 (GRCm39) |
R126Q |
probably damaging |
Het |
| Fastkd3 |
C |
T |
13: 68,738,319 (GRCm39) |
L623F |
probably damaging |
Het |
| Golga1 |
T |
C |
2: 38,913,183 (GRCm39) |
D543G |
probably benign |
Het |
| Gpatch8 |
A |
T |
11: 102,369,314 (GRCm39) |
V1408E |
probably damaging |
Het |
| Icosl |
T |
A |
10: 77,905,366 (GRCm39) |
L3Q |
possibly damaging |
Homo |
| Igf2r |
A |
G |
17: 12,902,787 (GRCm39) |
V2421A |
probably benign |
Het |
| Iglon5 |
T |
C |
7: 43,127,556 (GRCm39) |
T165A |
possibly damaging |
Het |
| Map3k11 |
A |
G |
19: 5,740,279 (GRCm39) |
E2G |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,330,268 (GRCm39) |
C2386S |
probably damaging |
Het |
| Nos1 |
A |
G |
5: 118,052,501 (GRCm39) |
E837G |
possibly damaging |
Het |
| Npc1l1 |
T |
C |
11: 6,174,145 (GRCm39) |
E720G |
probably damaging |
Het |
| Or1e35 |
A |
G |
11: 73,798,118 (GRCm39) |
S67P |
probably damaging |
Het |
| Pla1a |
T |
A |
16: 38,217,834 (GRCm39) |
M385L |
probably benign |
Het |
| Saxo4 |
A |
G |
19: 10,459,665 (GRCm39) |
V14A |
probably damaging |
Het |
| Setdb2 |
T |
C |
14: 59,662,146 (GRCm39) |
T82A |
probably benign |
Het |
| Smarcd3 |
A |
G |
5: 24,801,024 (GRCm39) |
F128L |
possibly damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Timm22 |
G |
A |
11: 76,297,945 (GRCm39) |
V19I |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,621,189 (GRCm39) |
D15716Y |
probably damaging |
Het |
| Ube3a |
C |
T |
7: 58,954,669 (GRCm39) |
|
probably null |
Het |
| Ugp2 |
A |
G |
11: 21,272,051 (GRCm39) |
|
probably null |
Het |
| Vmn1r13 |
T |
A |
6: 57,186,903 (GRCm39) |
F21I |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,882,144 (GRCm39) |
S1150G |
probably benign |
Het |
| Zp3 |
T |
C |
5: 136,011,548 (GRCm39) |
V122A |
probably benign |
Het |
|
| Other mutations in Syvn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01988:Syvn1
|
APN |
19 |
6,102,437 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02004:Syvn1
|
APN |
19 |
6,102,437 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02218:Syvn1
|
APN |
19 |
6,100,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02335:Syvn1
|
APN |
19 |
6,100,123 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02385:Syvn1
|
APN |
19 |
6,098,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02700:Syvn1
|
APN |
19 |
6,097,973 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02904:Syvn1
|
APN |
19 |
6,099,845 (GRCm39) |
nonsense |
probably null |
|
|
R0833:Syvn1
|
UTSW |
19 |
6,102,483 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1886:Syvn1
|
UTSW |
19 |
6,099,257 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2031:Syvn1
|
UTSW |
19 |
6,100,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4299:Syvn1
|
UTSW |
19 |
6,099,951 (GRCm39) |
intron |
probably benign |
|
|
R4347:Syvn1
|
UTSW |
19 |
6,099,951 (GRCm39) |
intron |
probably benign |
|
|
R4422:Syvn1
|
UTSW |
19 |
6,099,951 (GRCm39) |
intron |
probably benign |
|
|
R4423:Syvn1
|
UTSW |
19 |
6,099,951 (GRCm39) |
intron |
probably benign |
|
|
R4424:Syvn1
|
UTSW |
19 |
6,099,951 (GRCm39) |
intron |
probably benign |
|
|
R4425:Syvn1
|
UTSW |
19 |
6,099,951 (GRCm39) |
intron |
probably benign |
|
|
R4647:Syvn1
|
UTSW |
19 |
6,101,504 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5960:Syvn1
|
UTSW |
19 |
6,100,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6940:Syvn1
|
UTSW |
19 |
6,101,214 (GRCm39) |
unclassified |
probably benign |
|
|
R7728:Syvn1
|
UTSW |
19 |
6,101,235 (GRCm39) |
missense |
unknown |
|
|
R8079:Syvn1
|
UTSW |
19 |
6,098,396 (GRCm39) |
missense |
probably null |
1.00 |
|
R8272:Syvn1
|
UTSW |
19 |
6,097,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8744:Syvn1
|
UTSW |
19 |
6,099,198 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8780:Syvn1
|
UTSW |
19 |
6,100,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8802:Syvn1
|
UTSW |
19 |
6,097,968 (GRCm39) |
missense |
probably benign |
0.21 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATAATCCAATCCGCCTATTCAC -3'
(R):5'- ACAATGCCCACTGACTCAGG -3'
Sequencing Primer
(F):5'- TCACTTATACTTACTCGTCACAAGG -3'
(R):5'- CCACTGACTCAGGAGCTAGAAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation