Incidental Mutation 'R4348:Ssx2ip'
| ID |
328390 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ssx2ip
|
| Ensembl Gene |
ENSMUSG00000036825 |
| Gene Name |
SSX family member 2 interacting protein |
| Synonyms |
Adip |
| MMRRC Submission |
041103-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4348 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
146110397-146145899 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 146138245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 364
(V364A)
|
| 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: V364A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000045663
Gene: ENSMUSG00000036825
AA Change: V364A
| 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: V364A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000101755
Gene: ENSMUSG00000036825
AA Change: V364A
| 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: V364A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000101757
Gene: ENSMUSG00000036825
AA Change: V364A
| 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: V364A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000101759
Gene: ENSMUSG00000036825
AA Change: V364A
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Aass |
A |
G |
6: 23,113,738 (GRCm39) |
F235L |
probably benign |
Het |
| Adamts1 |
T |
A |
16: 85,599,234 (GRCm39) |
D122V |
probably benign |
Het |
| Adcy6 |
A |
T |
15: 98,502,041 (GRCm39) |
V191E |
probably benign |
Het |
| Cngb3 |
G |
A |
4: 19,396,688 (GRCm39) |
R347Q |
probably damaging |
Het |
| Cntnap4 |
T |
A |
8: 113,480,554 (GRCm39) |
C334S |
probably damaging |
Het |
| D7Ertd443e |
ACCTAGGAGGTCCT |
ACCT |
7: 133,950,682 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
T |
A |
14: 26,536,498 (GRCm39) |
M2138K |
possibly damaging |
Het |
| Ebf2 |
T |
C |
14: 67,476,871 (GRCm39) |
I138T |
probably damaging |
Het |
| Ect2l |
A |
G |
10: 18,012,736 (GRCm39) |
S784P |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,587,726 (GRCm39) |
M129V |
probably benign |
Het |
| Enah |
A |
T |
1: 181,749,985 (GRCm39) |
S266T |
possibly damaging |
Het |
| Fhip1b |
A |
G |
7: 105,034,556 (GRCm39) |
V422A |
probably damaging |
Het |
| Garem2 |
G |
A |
5: 30,310,366 (GRCm39) |
R26H |
possibly damaging |
Het |
| Gfy |
T |
C |
7: 44,827,040 (GRCm39) |
E352G |
probably benign |
Het |
| Gpatch11 |
T |
C |
17: 79,148,446 (GRCm39) |
L128P |
probably damaging |
Het |
| Inava |
C |
T |
1: 136,153,946 (GRCm39) |
V180I |
probably damaging |
Het |
| Kcns3 |
T |
C |
12: 11,141,382 (GRCm39) |
N439S |
possibly damaging |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Mbd1 |
G |
T |
18: 74,407,487 (GRCm39) |
R199L |
probably damaging |
Het |
| Mbd5 |
T |
A |
2: 49,146,339 (GRCm39) |
M183K |
probably benign |
Het |
| Mecom |
C |
A |
3: 30,020,887 (GRCm39) |
V452L |
possibly damaging |
Het |
| Nckap1l |
A |
G |
15: 103,395,246 (GRCm39) |
T909A |
probably damaging |
Het |
| Ntrk2 |
A |
G |
13: 59,026,073 (GRCm39) |
K464E |
probably damaging |
Het |
| Orc1 |
C |
T |
4: 108,450,649 (GRCm39) |
T127I |
probably damaging |
Het |
| Pcdh17 |
T |
C |
14: 84,685,060 (GRCm39) |
I509T |
probably damaging |
Het |
| Pcsk7 |
G |
A |
9: 45,830,646 (GRCm39) |
A475T |
probably damaging |
Het |
| Prb1b |
T |
G |
6: 132,290,624 (GRCm39) |
Y25S |
unknown |
Het |
| Prdm16 |
A |
G |
4: 154,561,124 (GRCm39) |
V136A |
probably benign |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Ptpn13 |
T |
A |
5: 103,717,592 (GRCm39) |
S1879R |
probably damaging |
Het |
| Rasgrp3 |
A |
T |
17: 75,818,975 (GRCm39) |
Q388L |
probably benign |
Het |
| Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
| Rnf38 |
A |
T |
4: 44,149,100 (GRCm39) |
N82K |
possibly damaging |
Het |
| Smco3 |
T |
A |
6: 136,808,692 (GRCm39) |
T61S |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,595,109 (GRCm39) |
I20347T |
possibly damaging |
Het |
| Vmn2r120 |
A |
T |
17: 57,829,466 (GRCm39) |
F477Y |
possibly damaging |
Het |
| Wee1 |
A |
G |
7: 109,730,165 (GRCm39) |
H423R |
probably damaging |
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 |
|
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 |
|
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'- CTGTGAGACCTGTTAGCTTCCAG -3'
(R):5'- AAGTCTTCCAGGTTCCGTGAC -3'
Sequencing Primer
(F):5'- CTCTTGCTTTGATGAACAAGAGCAG -3'
(R):5'- CCAGGTTCCGTGACGTGTAG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation