Incidental Mutation 'R5520:Ssx2ip'
| ID |
431490 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ssx2ip
|
| Ensembl Gene |
ENSMUSG00000036825 |
| Gene Name |
SSX family member 2 interacting protein |
| Synonyms |
Adip |
| MMRRC Submission |
043079-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5520 (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 A
at 146143066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 548
(R548H)
|
| 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: R547H
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000045663
Gene: ENSMUSG00000036825
AA Change: R547H
| 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: R547H
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000101755
Gene: ENSMUSG00000036825
AA Change: R547H
| 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: R547H
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000101757
Gene: ENSMUSG00000036825
AA Change: R547H
| 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: R548H
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000101759
Gene: ENSMUSG00000036825
AA Change: R548H
| 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: 99.1%
- 3x: 97.6%
- 10x: 94.8%
- 20x: 88.6%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
T |
A |
4: 144,504,594 (GRCm39) |
T186S |
probably benign |
Het |
| AI467606 |
C |
T |
7: 126,691,998 (GRCm39) |
P191L |
probably benign |
Het |
| Aoc1l1 |
C |
A |
6: 48,952,728 (GRCm39) |
Q218K |
possibly damaging |
Het |
| Arl9 |
T |
C |
5: 77,154,440 (GRCm39) |
V56A |
probably damaging |
Het |
| Cacng5 |
T |
C |
11: 107,768,248 (GRCm39) |
Q253R |
probably benign |
Het |
| Cc2d1b |
T |
C |
4: 108,483,556 (GRCm39) |
M331T |
possibly damaging |
Het |
| Cep97 |
A |
G |
16: 55,735,659 (GRCm39) |
S380P |
probably benign |
Het |
| Clpx |
A |
T |
9: 65,224,730 (GRCm39) |
K153* |
probably null |
Het |
| Dclk2 |
A |
G |
3: 86,827,147 (GRCm39) |
S111P |
probably damaging |
Het |
| E2f7 |
A |
G |
10: 110,595,806 (GRCm39) |
E167G |
probably damaging |
Het |
| Edn1 |
T |
C |
13: 42,455,436 (GRCm39) |
|
probably null |
Het |
| Farp1 |
C |
T |
14: 121,472,489 (GRCm39) |
P208L |
probably damaging |
Het |
| Fbxw18 |
G |
T |
9: 109,520,589 (GRCm39) |
H257N |
probably benign |
Het |
| Ftsj3 |
T |
C |
11: 106,146,414 (GRCm39) |
T22A |
probably benign |
Het |
| Gm17019 |
A |
T |
5: 15,082,819 (GRCm39) |
M45K |
possibly damaging |
Het |
| Gpr162 |
T |
C |
6: 124,837,876 (GRCm39) |
D258G |
probably damaging |
Het |
| Grk1 |
T |
A |
8: 13,459,305 (GRCm39) |
D285E |
probably benign |
Het |
| Herc6 |
A |
T |
6: 57,624,105 (GRCm39) |
D625V |
possibly damaging |
Het |
| Igkv1-135 |
C |
T |
6: 67,587,324 (GRCm39) |
P65L |
possibly damaging |
Het |
| Lepr |
T |
C |
4: 101,602,734 (GRCm39) |
L174P |
probably benign |
Het |
| Nphp3 |
A |
G |
9: 103,901,872 (GRCm39) |
S689G |
probably benign |
Het |
| Or14c44 |
T |
A |
7: 86,062,064 (GRCm39) |
S165T |
probably benign |
Het |
| Or5w20 |
T |
C |
2: 87,726,753 (GRCm39) |
|
probably benign |
Het |
| Phf8-ps |
A |
G |
17: 33,284,367 (GRCm39) |
Y812H |
probably benign |
Het |
| Plxnb2 |
T |
G |
15: 89,051,746 (GRCm39) |
T158P |
possibly damaging |
Het |
| Pramel32 |
A |
C |
4: 88,548,277 (GRCm39) |
S43A |
probably damaging |
Het |
| R3hcc1 |
T |
A |
14: 69,936,057 (GRCm39) |
K437* |
probably null |
Het |
| Rnf213 |
C |
A |
11: 119,324,325 (GRCm39) |
H1428Q |
probably damaging |
Het |
| Ro60 |
A |
T |
1: 143,646,509 (GRCm39) |
S79T |
probably benign |
Het |
| Spata31e2 |
A |
T |
1: 26,724,900 (GRCm39) |
N93K |
probably benign |
Het |
| Trim23 |
C |
T |
13: 104,324,035 (GRCm39) |
R165C |
probably damaging |
Het |
| Ulk2 |
T |
G |
11: 61,698,970 (GRCm39) |
T405P |
probably damaging |
Het |
| Unkl |
G |
A |
17: 25,424,584 (GRCm39) |
V204I |
probably damaging |
Het |
| Vmn1r43 |
T |
C |
6: 89,846,728 (GRCm39) |
T253A |
probably damaging |
Het |
| Zfp534 |
T |
C |
4: 147,759,887 (GRCm39) |
I261V |
possibly 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 |
|
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 |
|
|
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'- AAATGGCTGATCCTGGTTGG -3'
(R):5'- TGCTGGCAATCTCTGTGCAG -3'
Sequencing Primer
(F):5'- AAATGGCTGATCCTGGTTGGTAATC -3'
(R):5'- GAGTCAACCTAATTTCTTCCCACAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation