Incidental Mutation 'IGL01506:Syndig1'
| ID |
89061 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Syndig1
|
| Ensembl Gene |
ENSMUSG00000074736 |
| Gene Name |
synapse differentiation inducing 1 |
| Synonyms |
Tmem90b, SynDIG1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
IGL01506
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
149672703-149846312 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 149741677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 88
(R88C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109934]
[ENSMUST00000109935]
[ENSMUST00000137280]
[ENSMUST00000140870]
[ENSMUST00000144179]
[ENSMUST00000149705]
|
| AlphaFold |
A2ANU3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109934
AA Change: R88C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105560
Gene: ENSMUSG00000074736
AA Change: R88C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dispanin
|
164 |
246 |
5.8e-27 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109935
AA Change: R88C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105561
Gene: ENSMUSG00000074736
AA Change: R88C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
151 |
171 |
N/A |
INTRINSIC |
|
Pfam:CD225
|
172 |
244 |
7.9e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137280
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140870
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144179
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149705
AA Change: R88C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| 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 that belongs to the interferon-induced transmembrane family of proteins. A similar protein in rat is thought to regulate the development of excitatory synapses. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,247,447 (GRCm39) |
V2398A |
probably benign |
Het |
| Abhd2 |
T |
A |
7: 78,975,200 (GRCm39) |
I130N |
possibly damaging |
Het |
| Adamts15 |
A |
T |
9: 30,833,430 (GRCm39) |
I35N |
probably benign |
Het |
| Car8 |
T |
A |
4: 8,169,761 (GRCm39) |
E249V |
probably damaging |
Het |
| Dpp8 |
A |
G |
9: 64,970,699 (GRCm39) |
|
probably benign |
Het |
| Gstm2 |
T |
G |
3: 107,892,559 (GRCm39) |
|
probably null |
Het |
| Kcnmb4 |
A |
G |
10: 116,309,251 (GRCm39) |
V59A |
probably benign |
Het |
| Krt76 |
T |
C |
15: 101,800,835 (GRCm39) |
I154V |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,092,065 (GRCm39) |
R1646H |
probably benign |
Het |
| Larp1b |
C |
A |
3: 40,987,875 (GRCm39) |
Y32* |
probably null |
Het |
| Magea4 |
G |
A |
X: 71,266,376 (GRCm39) |
D252N |
probably damaging |
Het |
| Mat1a |
C |
A |
14: 40,831,395 (GRCm39) |
A41E |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,137,202 (GRCm39) |
V3190E |
probably damaging |
Het |
| Nop53 |
G |
A |
7: 15,674,082 (GRCm39) |
P249L |
probably damaging |
Het |
| Or8b44 |
A |
G |
9: 38,410,171 (GRCm39) |
I69V |
probably benign |
Het |
| Osbpl7 |
T |
C |
11: 96,943,126 (GRCm39) |
L126P |
probably benign |
Het |
| Plxna4 |
A |
T |
6: 32,493,470 (GRCm39) |
L382Q |
probably damaging |
Het |
| Poli |
G |
A |
18: 70,642,802 (GRCm39) |
T403I |
probably benign |
Het |
| Slc44a2 |
T |
C |
9: 21,249,246 (GRCm39) |
Y9H |
probably benign |
Het |
| Snx4 |
T |
C |
16: 33,084,624 (GRCm39) |
|
probably benign |
Het |
| Son |
A |
T |
16: 91,454,174 (GRCm39) |
I974L |
possibly damaging |
Het |
| Stil |
T |
C |
4: 114,881,309 (GRCm39) |
S618P |
probably benign |
Het |
| Trpm1 |
T |
A |
7: 63,893,329 (GRCm39) |
F944L |
probably damaging |
Het |
|
| Other mutations in Syndig1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01599:Syndig1
|
APN |
2 |
149,845,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01814:Syndig1
|
APN |
2 |
149,741,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01988:Syndig1
|
APN |
2 |
149,845,090 (GRCm39) |
splice site |
probably benign |
|
|
IGL02323:Syndig1
|
APN |
2 |
149,741,707 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1445:Syndig1
|
UTSW |
2 |
149,772,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1523:Syndig1
|
UTSW |
2 |
149,845,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4825:Syndig1
|
UTSW |
2 |
149,741,473 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4892:Syndig1
|
UTSW |
2 |
149,741,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5643:Syndig1
|
UTSW |
2 |
149,741,428 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5644:Syndig1
|
UTSW |
2 |
149,741,428 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6386:Syndig1
|
UTSW |
2 |
149,741,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6603:Syndig1
|
UTSW |
2 |
149,845,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7941:Syndig1
|
UTSW |
2 |
149,741,708 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8177:Syndig1
|
UTSW |
2 |
149,741,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9265:Syndig1
|
UTSW |
2 |
149,845,160 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9340:Syndig1
|
UTSW |
2 |
149,845,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation