Incidental Mutation 'R0903:Ssx2ip'
| ID |
83877 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ssx2ip
|
| Ensembl Gene |
ENSMUSG00000036825 |
| Gene Name |
SSX family member 2 interacting protein |
| Synonyms |
Adip |
| MMRRC Submission |
039061-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0903 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
146110397-146145899 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 146136732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 327
(V327L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039021]
[ENSMUST00000106149]
[ENSMUST00000106151]
[ENSMUST00000106153]
|
| AlphaFold |
Q8VC66 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039021
AA Change: V327L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000045663
Gene: ENSMUSG00000036825
AA Change: V327L
| 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 benign
Transcript: ENSMUST00000106149
AA Change: V327L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101755
Gene: ENSMUSG00000036825
AA Change: V327L
| 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 benign
Transcript: ENSMUST00000106151
AA Change: V327L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101757
Gene: ENSMUSG00000036825
AA Change: V327L
| 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 benign
Transcript: ENSMUST00000106153
AA Change: V327L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101759
Gene: ENSMUSG00000036825
AA Change: V327L
| 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 |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.9%
|
| 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: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap3 |
A |
G |
4: 135,965,687 (GRCm39) |
N399S |
probably benign |
Het |
| Camk4 |
T |
A |
18: 33,315,383 (GRCm39) |
F303L |
probably benign |
Het |
| Cntn2 |
CCAGCAGCAGCAGCAGCA |
CCAGCAGCAGCAGCA |
1: 132,461,422 (GRCm39) |
|
probably benign |
Het |
| Hmg20b |
C |
T |
10: 81,184,329 (GRCm39) |
|
probably null |
Het |
| Itih5 |
G |
A |
2: 10,253,999 (GRCm39) |
R750Q |
probably benign |
Het |
| Kif13a |
T |
C |
13: 47,082,735 (GRCm39) |
T35A |
possibly damaging |
Het |
| Klri2 |
A |
G |
6: 129,710,739 (GRCm39) |
S127P |
possibly damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Mmp3 |
A |
G |
9: 7,445,994 (GRCm39) |
M33V |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,513,293 (GRCm39) |
H821R |
probably damaging |
Het |
| Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
| Or4k35 |
T |
A |
2: 111,100,701 (GRCm39) |
I4L |
probably benign |
Het |
| Or8c11 |
C |
G |
9: 38,290,097 (GRCm39) |
L301V |
probably benign |
Het |
| Scrib |
A |
T |
15: 75,938,704 (GRCm39) |
W203R |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,432,242 (GRCm39) |
|
probably null |
Het |
| Ugt2a3 |
A |
T |
5: 87,475,570 (GRCm39) |
F354Y |
probably benign |
Het |
|
| Other mutations in Ssx2ip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00593:Ssx2ip
|
APN |
3 |
146,142,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGAGACGCAACTCAGATCCCAG -3'
(R):5'- CAACACTAGACTATGGGCGACACTG -3'
Sequencing Primer
(F):5'- ACTTTGTGGCAGTATTCAGCAC -3'
(R):5'- CTATGGGCGACACTGTTCTCTAAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation