Incidental Mutation 'R6940:Syvn1'
| ID |
540520 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syvn1
|
| Ensembl Gene |
ENSMUSG00000024807 |
| Gene Name |
synovial apoptosis inhibitor 1, synoviolin |
| Synonyms |
Hrd1, 1200010C09Rik |
| MMRRC Submission |
045054-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6940 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6096606-6103742 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 6101214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118698
(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 |
unknown
Transcript: ENSMUST00000025723
AA Change: T371S
|
| SMART Domains |
Protein: ENSMUSP00000025723
Gene: ENSMUSG00000024807
AA Change: T371S
| 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: T422S
|
| SMART Domains |
Protein: ENSMUSP00000114960
Gene: ENSMUSG00000024807
AA Change: T422S
| 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: T422S
|
| SMART Domains |
Protein: ENSMUSP00000114843
Gene: ENSMUSG00000024807
AA Change: T422S
| 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: ENSMUST00000156550
AA Change: T422S
|
| SMART Domains |
Protein: ENSMUSP00000121885
Gene: ENSMUSG00000024807
AA Change: T422S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
100% (49/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg1 |
C |
A |
9: 54,516,381 (GRCm39) |
A667S |
probably benign |
Het |
| Ank2 |
G |
A |
3: 126,735,621 (GRCm39) |
|
probably benign |
Het |
| Arhgef28 |
A |
G |
13: 98,102,038 (GRCm39) |
L812P |
possibly damaging |
Het |
| Armc5 |
C |
T |
7: 127,839,470 (GRCm39) |
R263* |
probably null |
Het |
| Cadps2 |
A |
T |
6: 23,302,491 (GRCm39) |
V740E |
probably damaging |
Het |
| Cckbr |
T |
C |
7: 105,084,103 (GRCm39) |
V279A |
probably benign |
Het |
| Cd101 |
T |
C |
3: 100,911,018 (GRCm39) |
D880G |
probably damaging |
Het |
| Cep350 |
A |
T |
1: 155,804,297 (GRCm39) |
S929T |
probably benign |
Het |
| Chaf1b |
G |
A |
16: 93,702,853 (GRCm39) |
R556H |
probably benign |
Het |
| Csn1s1 |
A |
T |
5: 87,822,882 (GRCm39) |
Q69L |
possibly damaging |
Het |
| Dennd1b |
T |
C |
1: 138,981,155 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
T |
C |
12: 118,162,503 (GRCm39) |
D22G |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,670,836 (GRCm39) |
H472R |
probably benign |
Het |
| Dnah7b |
G |
A |
1: 46,158,428 (GRCm39) |
R337H |
probably benign |
Het |
| Eif2ak3 |
T |
C |
6: 70,869,386 (GRCm39) |
V691A |
possibly damaging |
Het |
| Ern2 |
T |
C |
7: 121,785,369 (GRCm39) |
R3G |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,828,096 (GRCm39) |
|
probably null |
Het |
| Fnbp4 |
T |
C |
2: 90,575,858 (GRCm39) |
F20L |
unknown |
Het |
| Gtf2b |
C |
A |
3: 142,484,016 (GRCm39) |
D63E |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,217,243 (GRCm39) |
Y1377C |
probably damaging |
Het |
| Klf1 |
A |
G |
8: 85,628,724 (GRCm39) |
T41A |
possibly damaging |
Het |
| Lce3d |
G |
A |
3: 92,865,541 (GRCm39) |
S52N |
unknown |
Het |
| Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
| Lrrfip1 |
T |
A |
1: 91,050,135 (GRCm39) |
|
probably null |
Het |
| Ltbp4 |
A |
C |
7: 27,008,369 (GRCm39) |
V1313G |
probably damaging |
Het |
| Morc1 |
C |
A |
16: 48,300,208 (GRCm39) |
S235* |
probably null |
Het |
| Mr1 |
T |
G |
1: 155,005,014 (GRCm39) |
*342S |
probably null |
Het |
| Muc21 |
C |
A |
17: 35,934,118 (GRCm39) |
|
probably benign |
Het |
| Nol4l |
T |
A |
2: 153,253,684 (GRCm39) |
S630C |
probably benign |
Het |
| Nr4a3 |
C |
T |
4: 48,051,486 (GRCm39) |
P80L |
probably benign |
Het |
| Or51a43 |
A |
G |
7: 103,717,620 (GRCm39) |
I206T |
possibly damaging |
Het |
| Otof |
A |
G |
5: 30,528,987 (GRCm39) |
V1807A |
probably damaging |
Het |
| Pde5a |
T |
A |
3: 122,572,681 (GRCm39) |
V354E |
possibly damaging |
Het |
| Pmfbp1 |
A |
T |
8: 110,251,823 (GRCm39) |
E355D |
probably damaging |
Het |
| Ppp2r2c |
A |
G |
5: 37,084,875 (GRCm39) |
D112G |
probably damaging |
Het |
| Prkacb |
A |
T |
3: 146,457,254 (GRCm39) |
I37N |
probably damaging |
Het |
| Prox2 |
T |
C |
12: 85,141,348 (GRCm39) |
D285G |
probably benign |
Het |
| Ranbp3l |
A |
G |
15: 9,041,792 (GRCm39) |
S61G |
probably benign |
Het |
| Rnf214 |
T |
A |
9: 45,802,196 (GRCm39) |
T289S |
probably damaging |
Het |
| Rnf217 |
G |
T |
10: 31,381,973 (GRCm39) |
|
probably null |
Het |
| Sc5d |
A |
T |
9: 42,166,723 (GRCm39) |
M272K |
probably benign |
Het |
| Slco6c1 |
T |
C |
1: 97,000,626 (GRCm39) |
T542A |
possibly damaging |
Het |
| Sord |
T |
A |
2: 122,094,536 (GRCm39) |
I308N |
probably damaging |
Het |
| Tas2r134 |
A |
G |
2: 51,518,148 (GRCm39) |
H209R |
probably benign |
Het |
| Trak1 |
T |
C |
9: 121,272,784 (GRCm39) |
V214A |
possibly damaging |
Het |
| Trpm5 |
C |
A |
7: 142,638,547 (GRCm39) |
E322* |
probably null |
Het |
| Ttf2 |
T |
C |
3: 100,876,831 (GRCm39) |
T17A |
probably damaging |
Het |
| Vmn2r53 |
T |
C |
7: 12,316,343 (GRCm39) |
E492G |
probably benign |
Het |
| Xndc1 |
T |
C |
7: 101,727,094 (GRCm39) |
V161A |
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 |
|
R6388:Syvn1
|
UTSW |
19 |
6,102,381 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- ATCTCCTAGTAGCCAAGCGC -3'
(R):5'- ATACAGAGGTCAGGCTGAGC -3'
Sequencing Primer
(F):5'- AGGCATGTTCCCACTGTG -3'
(R):5'- TCAGGCTGAGCTACCTGG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation