Incidental Mutation 'R4425:Syvn1'
| ID |
328137 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syvn1
|
| Ensembl Gene |
ENSMUSG00000024807 |
| Gene Name |
synovial apoptosis inhibitor 1, synoviolin |
| Synonyms |
Hrd1, 1200010C09Rik |
| MMRRC Submission |
041144-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4425 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6096606-6103742 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to T
at 6099951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121885
(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
|
| SMART Domains |
Protein: ENSMUSP00000025723
Gene: ENSMUSG00000024807
| 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 |
probably benign
Transcript: ENSMUST00000134667
|
| SMART Domains |
Protein: ENSMUSP00000114960
Gene: ENSMUSG00000024807
| 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 |
probably benign
Transcript: ENSMUST00000138532
|
| SMART Domains |
Protein: ENSMUSP00000114843
Gene: ENSMUSG00000024807
| 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 |
noncoding transcript
Transcript: ENSMUST00000184338
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156550
|
| SMART Domains |
Protein: ENSMUSP00000121885
Gene: ENSMUSG00000024807
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
98% (55/56) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
T |
C |
11: 94,236,870 (GRCm39) |
T1456A |
probably damaging |
Het |
| Acad11 |
T |
C |
9: 103,950,844 (GRCm39) |
F56S |
probably damaging |
Het |
| Adamts8 |
A |
G |
9: 30,867,952 (GRCm39) |
N592S |
possibly damaging |
Het |
| Amh |
A |
G |
10: 80,642,755 (GRCm39) |
D313G |
probably damaging |
Het |
| Ampd2 |
T |
C |
3: 107,994,052 (GRCm39) |
|
probably benign |
Het |
| Arap3 |
A |
G |
18: 38,111,653 (GRCm39) |
L1115P |
probably damaging |
Het |
| Arfgap1 |
C |
A |
2: 180,622,869 (GRCm39) |
D327E |
probably benign |
Het |
| Capns2 |
T |
A |
8: 93,628,252 (GRCm39) |
I47N |
possibly damaging |
Het |
| Cd163 |
T |
C |
6: 124,304,862 (GRCm39) |
S1080P |
possibly damaging |
Het |
| Ceacam10 |
A |
T |
7: 24,480,433 (GRCm39) |
Y68F |
possibly damaging |
Het |
| Cep44 |
G |
A |
8: 56,991,652 (GRCm39) |
P317S |
probably benign |
Het |
| Cfh |
A |
T |
1: 140,028,613 (GRCm39) |
Y688* |
probably null |
Het |
| Chrnb1 |
A |
T |
11: 69,677,773 (GRCm39) |
S326R |
probably damaging |
Het |
| Cngb1 |
C |
T |
8: 96,026,344 (GRCm39) |
V25M |
probably damaging |
Het |
| Cyp2c50 |
A |
T |
19: 40,079,136 (GRCm39) |
N160Y |
possibly damaging |
Het |
| Dalrd3 |
T |
C |
9: 108,448,800 (GRCm39) |
|
probably benign |
Het |
| Eef1d |
C |
A |
15: 75,774,648 (GRCm39) |
S253I |
possibly damaging |
Het |
| Efl1 |
G |
A |
7: 82,412,491 (GRCm39) |
C960Y |
probably damaging |
Het |
| Elmo1 |
C |
G |
13: 20,784,382 (GRCm39) |
Y646* |
probably null |
Het |
| Epb41l2 |
C |
A |
10: 25,382,078 (GRCm39) |
D701E |
possibly damaging |
Het |
| Fbxl4 |
T |
A |
4: 22,422,699 (GRCm39) |
|
probably null |
Het |
| Fhod1 |
T |
C |
8: 106,063,983 (GRCm39) |
|
probably benign |
Het |
| Gm8741 |
G |
T |
17: 35,555,062 (GRCm39) |
|
noncoding transcript |
Het |
| Igkv10-95 |
A |
T |
6: 68,657,606 (GRCm39) |
I21F |
probably damaging |
Het |
| Il10rb |
C |
A |
16: 91,204,603 (GRCm39) |
N51K |
possibly damaging |
Het |
| Krt78 |
T |
C |
15: 101,856,375 (GRCm39) |
T479A |
probably benign |
Het |
| Lrig3 |
T |
C |
10: 125,849,273 (GRCm39) |
S998P |
probably benign |
Het |
| Lrrc8c |
T |
A |
5: 105,755,755 (GRCm39) |
M510K |
probably benign |
Het |
| Nfrkb |
G |
T |
9: 31,311,258 (GRCm39) |
C369F |
probably damaging |
Het |
| Nphp1 |
T |
C |
2: 127,630,719 (GRCm39) |
E19G |
possibly damaging |
Het |
| Or10a5 |
A |
C |
7: 106,635,698 (GRCm39) |
E112A |
probably damaging |
Het |
| Or4f14b |
T |
C |
2: 111,775,534 (GRCm39) |
H89R |
probably benign |
Het |
| Ovol3 |
A |
T |
7: 29,934,789 (GRCm39) |
|
probably null |
Het |
| Ppp1r16b |
C |
T |
2: 158,599,174 (GRCm39) |
T382I |
probably benign |
Het |
| Rims2 |
T |
C |
15: 39,301,320 (GRCm39) |
|
probably null |
Het |
| Sh3rf3 |
T |
C |
10: 58,919,398 (GRCm39) |
V505A |
probably benign |
Het |
| Shkbp1 |
T |
C |
7: 27,042,727 (GRCm39) |
N570S |
probably benign |
Het |
| Slc35f4 |
C |
T |
14: 49,556,307 (GRCm39) |
V149I |
possibly damaging |
Het |
| Snx27 |
A |
G |
3: 94,469,330 (GRCm39) |
F4L |
probably benign |
Het |
| Tagap1 |
G |
A |
17: 7,223,511 (GRCm39) |
S395L |
probably benign |
Het |
| Tcstv2b |
C |
A |
13: 120,373,908 (GRCm39) |
L127F |
probably damaging |
Het |
| Tek |
A |
G |
4: 94,751,904 (GRCm39) |
T1014A |
probably damaging |
Het |
| Top2a |
A |
G |
11: 98,892,231 (GRCm39) |
I1077T |
probably benign |
Het |
| Tpo |
T |
C |
12: 30,154,015 (GRCm39) |
Y230C |
probably damaging |
Het |
| Trav12-2 |
A |
G |
14: 53,854,332 (GRCm39) |
Q102R |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,733,430 (GRCm39) |
|
probably benign |
Het |
| Vmn1r183 |
A |
T |
7: 23,754,973 (GRCm39) |
I259F |
probably benign |
Het |
| Vmn1r228 |
T |
C |
17: 20,996,861 (GRCm39) |
E219G |
probably damaging |
Het |
| Vsig8 |
G |
T |
1: 172,390,714 (GRCm39) |
G254V |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,320,246 (GRCm39) |
I1086V |
probably benign |
Het |
| Zfp423 |
G |
A |
8: 88,509,601 (GRCm39) |
H123Y |
probably damaging |
Het |
| Zfp811 |
A |
T |
17: 33,016,521 (GRCm39) |
C506* |
probably null |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCACCTCTGTCTTGAAGC -3'
(R):5'- ACCTCATGGCCAGGTACATG -3'
Sequencing Primer
(F):5'- GGGAAGCTGGTACTCACATCCATC -3'
(R):5'- CCAGGTACATGGGCCTAATG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation