Incidental Mutation 'IGL01988:Syvn1'
| ID |
279249 |
| 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 # |
IGL01988
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
T |
A |
10: 29,101,107 (GRCm39) |
S493R |
probably benign |
Het |
| Abca17 |
T |
C |
17: 24,553,229 (GRCm39) |
N161D |
probably damaging |
Het |
| Ace2 |
C |
A |
X: 162,946,988 (GRCm39) |
N290K |
possibly damaging |
Het |
| Adam26a |
G |
A |
8: 44,022,207 (GRCm39) |
P428S |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,705,428 (GRCm39) |
R1461G |
probably damaging |
Het |
| Arhgef10l |
T |
C |
4: 140,305,672 (GRCm39) |
|
probably benign |
Het |
| Bicc1 |
A |
G |
10: 70,792,006 (GRCm39) |
V334A |
probably damaging |
Het |
| C8a |
T |
C |
4: 104,683,891 (GRCm39) |
Y408C |
probably damaging |
Het |
| Col24a1 |
T |
C |
3: 145,229,922 (GRCm39) |
|
probably null |
Het |
| Copa |
T |
A |
1: 171,945,831 (GRCm39) |
N931K |
probably benign |
Het |
| Cr1l |
A |
G |
1: 194,799,858 (GRCm39) |
M272T |
probably damaging |
Het |
| Dcaf12 |
T |
C |
4: 41,298,299 (GRCm39) |
N283S |
probably benign |
Het |
| Dnttip2 |
T |
A |
3: 122,069,944 (GRCm39) |
S386R |
probably benign |
Het |
| Fbll1 |
G |
T |
11: 35,688,728 (GRCm39) |
D178E |
probably benign |
Het |
| Fgd6 |
A |
G |
10: 93,910,197 (GRCm39) |
|
probably benign |
Het |
| Fyn |
T |
A |
10: 39,409,917 (GRCm39) |
L408* |
probably null |
Het |
| Gkn2 |
T |
C |
6: 87,356,257 (GRCm39) |
V176A |
probably benign |
Het |
| Gm10764 |
G |
A |
10: 87,126,953 (GRCm39) |
C120Y |
unknown |
Het |
| Gpr19 |
A |
T |
6: 134,846,247 (GRCm39) |
F442I |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,395,357 (GRCm39) |
|
probably benign |
Het |
| Il7 |
A |
G |
3: 7,669,126 (GRCm39) |
Y37H |
possibly damaging |
Het |
| Kcnj3 |
G |
A |
2: 55,327,243 (GRCm39) |
D11N |
probably benign |
Het |
| Kif1c |
A |
G |
11: 70,595,762 (GRCm39) |
D156G |
probably damaging |
Het |
| Lrch1 |
T |
C |
14: 75,032,813 (GRCm39) |
|
probably benign |
Het |
| Nedd1 |
G |
T |
10: 92,550,021 (GRCm39) |
T88K |
probably benign |
Het |
| Nlrc3 |
T |
G |
16: 3,771,803 (GRCm39) |
S875R |
probably benign |
Het |
| Optc |
A |
G |
1: 133,834,667 (GRCm39) |
|
probably null |
Het |
| Or4a78 |
T |
A |
2: 89,497,424 (GRCm39) |
I269F |
probably benign |
Het |
| Pcdh17 |
T |
A |
14: 84,684,062 (GRCm39) |
D176E |
probably damaging |
Het |
| Pde1b |
A |
G |
15: 103,433,283 (GRCm39) |
|
probably null |
Het |
| Phf11a |
A |
T |
14: 59,514,807 (GRCm39) |
D291E |
probably damaging |
Het |
| Slc30a8 |
A |
T |
15: 52,198,601 (GRCm39) |
I349L |
probably benign |
Het |
| Spty2d1 |
T |
A |
7: 46,647,358 (GRCm39) |
S524C |
probably damaging |
Het |
| Syndig1 |
T |
C |
2: 149,845,090 (GRCm39) |
|
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,918,078 (GRCm39) |
L1894P |
probably damaging |
Het |
| Tmem176a |
T |
A |
6: 48,819,554 (GRCm39) |
V11E |
possibly damaging |
Het |
| Tpr |
G |
T |
1: 150,302,750 (GRCm39) |
|
probably null |
Het |
| Txnrd2 |
T |
C |
16: 18,274,768 (GRCm39) |
|
probably benign |
Het |
| Ubqln3 |
G |
A |
7: 103,792,089 (GRCm39) |
|
probably benign |
Het |
| Vmn1r6 |
C |
T |
6: 56,979,650 (GRCm39) |
T82I |
probably damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,798,437 (GRCm39) |
E1990K |
possibly damaging |
Het |
| Zdhhc7 |
T |
C |
8: 120,809,329 (GRCm39) |
R293G |
probably benign |
Het |
| Zeb1 |
T |
A |
18: 5,759,037 (GRCm39) |
L148* |
probably null |
Het |
|
| Other mutations in Syvn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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