Incidental Mutation 'IGL00593:Ssx2ip'
| ID |
14244 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ssx2ip
|
| Ensembl Gene |
ENSMUSG00000036825 |
| Gene Name |
SSX family member 2 interacting protein |
| Synonyms |
Adip |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00593
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
146110397-146145899 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 146142307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 468
(F468L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039021]
[ENSMUST00000106149]
[ENSMUST00000106151]
[ENSMUST00000106153]
|
| AlphaFold |
Q8VC66 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039021
AA Change: F467L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045663
Gene: ENSMUSG00000036825
AA Change: F467L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADIP
|
63 |
214 |
8.5e-51 |
PFAM |
|
coiled coil region
|
266 |
291 |
N/A |
INTRINSIC |
|
coiled coil region
|
374 |
411 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
435 |
N/A |
INTRINSIC |
|
Blast:LPD_N
|
439 |
480 |
3e-7 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106149
AA Change: F467L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101755
Gene: ENSMUSG00000036825
AA Change: F467L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADIP
|
63 |
214 |
8.5e-51 |
PFAM |
|
coiled coil region
|
266 |
291 |
N/A |
INTRINSIC |
|
coiled coil region
|
374 |
411 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
435 |
N/A |
INTRINSIC |
|
Blast:LPD_N
|
439 |
480 |
3e-7 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106151
AA Change: F467L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101757
Gene: ENSMUSG00000036825
AA Change: F467L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADIP
|
63 |
214 |
8.5e-51 |
PFAM |
|
coiled coil region
|
266 |
291 |
N/A |
INTRINSIC |
|
coiled coil region
|
374 |
411 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
435 |
N/A |
INTRINSIC |
|
Blast:LPD_N
|
439 |
480 |
3e-7 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106153
AA Change: F468L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101759
Gene: ENSMUSG00000036825
AA Change: F468L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADIP
|
63 |
214 |
1.2e-47 |
PFAM |
|
coiled coil region
|
266 |
291 |
N/A |
INTRINSIC |
|
coiled coil region
|
374 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
426 |
436 |
N/A |
INTRINSIC |
|
Blast:LPD_N
|
440 |
481 |
3e-7 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141103
|
| 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 binds the cancer-testis antigen Synovial Sarcoma X breakpoint 2 protein. The encoded protein may regulate the activity of Synovial Sarcoma X breakpoint 2 protein in malignant cells. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Oct 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr2 |
A |
T |
X: 21,352,719 (GRCm39) |
K118* |
probably null |
Het |
| Akap14 |
A |
T |
X: 36,414,484 (GRCm39) |
H525Q |
possibly damaging |
Het |
| Crb1 |
T |
C |
1: 139,250,983 (GRCm39) |
I323V |
probably benign |
Het |
| H60b |
T |
C |
10: 22,162,962 (GRCm39) |
I179T |
possibly damaging |
Het |
| Krt34 |
A |
G |
11: 99,929,520 (GRCm39) |
|
probably benign |
Het |
| Mroh9 |
T |
C |
1: 162,873,350 (GRCm39) |
N541D |
possibly damaging |
Het |
| Plxnb1 |
A |
T |
9: 108,942,936 (GRCm39) |
I1841F |
probably benign |
Het |
| Ppp4r3b |
A |
G |
11: 29,147,205 (GRCm39) |
D3G |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,415,626 (GRCm39) |
T1829A |
possibly damaging |
Het |
| Togaram1 |
A |
G |
12: 65,053,173 (GRCm39) |
E1301G |
probably damaging |
Het |
| Tpd52l2 |
A |
T |
2: 181,141,689 (GRCm39) |
D24V |
probably damaging |
Het |
| Trmo |
A |
G |
4: 46,382,490 (GRCm39) |
V209A |
probably benign |
Het |
| Zfp141 |
A |
T |
7: 42,124,731 (GRCm39) |
C580* |
probably null |
Het |
| Zfp422 |
C |
A |
6: 116,603,919 (GRCm39) |
A27S |
probably benign |
Het |
| Zfp786 |
A |
T |
6: 47,796,605 (GRCm39) |
*778R |
probably null |
Het |
|
| Other mutations in Ssx2ip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01140:Ssx2ip
|
APN |
3 |
146,133,598 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01810:Ssx2ip
|
APN |
3 |
146,133,765 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB004:Ssx2ip
|
UTSW |
3 |
146,138,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB014:Ssx2ip
|
UTSW |
3 |
146,138,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0432:Ssx2ip
|
UTSW |
3 |
146,132,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0903:Ssx2ip
|
UTSW |
3 |
146,136,732 (GRCm39) |
missense |
probably benign |
|
|
R2228:Ssx2ip
|
UTSW |
3 |
146,123,531 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3151:Ssx2ip
|
UTSW |
3 |
146,124,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4348:Ssx2ip
|
UTSW |
3 |
146,138,245 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4446:Ssx2ip
|
UTSW |
3 |
146,132,186 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4796:Ssx2ip
|
UTSW |
3 |
146,124,114 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5054:Ssx2ip
|
UTSW |
3 |
146,136,672 (GRCm39) |
splice site |
probably benign |
|
|
R5338:Ssx2ip
|
UTSW |
3 |
146,142,296 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5520:Ssx2ip
|
UTSW |
3 |
146,143,066 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5898:Ssx2ip
|
UTSW |
3 |
146,133,586 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6367:Ssx2ip
|
UTSW |
3 |
146,124,921 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6777:Ssx2ip
|
UTSW |
3 |
146,144,476 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7082:Ssx2ip
|
UTSW |
3 |
146,136,703 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7239:Ssx2ip
|
UTSW |
3 |
146,133,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7249:Ssx2ip
|
UTSW |
3 |
146,132,193 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7772:Ssx2ip
|
UTSW |
3 |
146,138,885 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7927:Ssx2ip
|
UTSW |
3 |
146,138,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7935:Ssx2ip
|
UTSW |
3 |
146,124,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8011:Ssx2ip
|
UTSW |
3 |
146,128,666 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8540:Ssx2ip
|
UTSW |
3 |
146,124,114 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9050:Ssx2ip
|
UTSW |
3 |
146,144,512 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9264:Ssx2ip
|
UTSW |
3 |
146,142,955 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9775:Ssx2ip
|
UTSW |
3 |
146,136,808 (GRCm39) |
missense |
probably benign |
0.02 |
|
RF004:Ssx2ip
|
UTSW |
3 |
146,132,195 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Ssx2ip
|
UTSW |
3 |
146,133,902 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation