Incidental Mutation 'IGL02004:Syvn1'
| ID |
279255 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Syvn1
|
| Ensembl Gene |
ENSMUSG00000024807 |
| Gene Name |
synovial apoptosis inhibitor 1, synoviolin |
| Synonyms |
Hrd1, 1200010C09Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02004
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
6096606-6103742 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 6102437 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 502
(A502T)
|
| 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 benign
Transcript: ENSMUST00000025723
AA Change: A502T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000025723
Gene: ENSMUSG00000024807
AA Change: A502T
| 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: A553T
|
| SMART Domains |
Protein: ENSMUSP00000114960
Gene: ENSMUSG00000024807
AA Change: A553T
| 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: A553T
|
| SMART Domains |
Protein: ENSMUSP00000114843
Gene: ENSMUSG00000024807
AA Change: A553T
| 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: A553T
|
| SMART Domains |
Protein: ENSMUSP00000121885
Gene: ENSMUSG00000024807
AA Change: A553T
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
G |
T |
11: 72,082,423 (GRCm39) |
A301E |
possibly damaging |
Het |
| C4b |
A |
T |
17: 34,957,984 (GRCm39) |
|
probably benign |
Het |
| Cep85 |
A |
G |
4: 133,894,698 (GRCm39) |
V36A |
probably damaging |
Het |
| Cnot10 |
A |
T |
9: 114,451,998 (GRCm39) |
F259L |
probably damaging |
Het |
| Crim1 |
T |
C |
17: 78,680,004 (GRCm39) |
|
probably benign |
Het |
| Crispld1 |
G |
A |
1: 17,817,744 (GRCm39) |
A216T |
probably damaging |
Het |
| Cyp8b1 |
T |
C |
9: 121,744,058 (GRCm39) |
I425V |
probably benign |
Het |
| Fat2 |
A |
T |
11: 55,173,666 (GRCm39) |
V2349D |
probably damaging |
Het |
| Fer |
G |
T |
17: 64,231,174 (GRCm39) |
|
probably null |
Het |
| Galnt3 |
T |
C |
2: 65,926,270 (GRCm39) |
T313A |
probably damaging |
Het |
| Hsd3b9 |
T |
A |
3: 98,363,735 (GRCm39) |
R37W |
probably damaging |
Het |
| Igkv10-94 |
A |
T |
6: 68,681,928 (GRCm39) |
L12* |
probably null |
Het |
| Kcnj3 |
G |
A |
2: 55,327,243 (GRCm39) |
D11N |
probably benign |
Het |
| Kit |
T |
A |
5: 75,781,674 (GRCm39) |
S368T |
probably benign |
Het |
| Mark1 |
G |
A |
1: 184,644,786 (GRCm39) |
S390L |
possibly damaging |
Het |
| Mpped1 |
C |
A |
15: 83,684,357 (GRCm39) |
S126R |
probably damaging |
Het |
| Myh15 |
A |
C |
16: 48,930,892 (GRCm39) |
|
probably benign |
Het |
| Nat1 |
G |
A |
8: 67,943,878 (GRCm39) |
E85K |
probably benign |
Het |
| Or9q1 |
T |
C |
19: 13,805,427 (GRCm39) |
D111G |
possibly damaging |
Het |
| Pde3b |
A |
T |
7: 114,118,852 (GRCm39) |
M664L |
possibly damaging |
Het |
| Phrf1 |
A |
G |
7: 140,840,246 (GRCm39) |
D1147G |
probably benign |
Het |
| Pth1r |
G |
T |
9: 110,571,376 (GRCm39) |
|
probably benign |
Het |
| Shank3 |
C |
T |
15: 89,387,502 (GRCm39) |
|
probably benign |
Het |
| Slc39a7 |
A |
C |
17: 34,250,095 (GRCm39) |
|
probably benign |
Het |
| Slc6a1 |
A |
G |
6: 114,291,286 (GRCm39) |
T520A |
probably benign |
Het |
| St3gal2 |
C |
A |
8: 111,696,804 (GRCm39) |
A317E |
probably damaging |
Het |
| St3gal3 |
C |
A |
4: 117,817,236 (GRCm39) |
L139F |
possibly damaging |
Het |
| Sval3 |
T |
A |
6: 41,949,776 (GRCm39) |
|
probably benign |
Het |
| Tm4sf1 |
T |
C |
3: 57,200,499 (GRCm39) |
I68V |
possibly damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,780,589 (GRCm39) |
N1326K |
possibly damaging |
Het |
| Tvp23b |
G |
A |
11: 62,782,826 (GRCm39) |
C174Y |
probably damaging |
Het |
| Zfp750 |
T |
C |
11: 121,402,975 (GRCm39) |
D591G |
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 |
|
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 |
|
R6388:Syvn1
|
UTSW |
19 |
6,102,381 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation