Incidental Mutation 'R9775:Ssx2ip'
| ID |
733624 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ssx2ip
|
| Ensembl Gene |
ENSMUSG00000036825 |
| Gene Name |
SSX family member 2 interacting protein |
| Synonyms |
Adip |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9775 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
146110397-146145899 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 146136808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 352
(S352N)
|
| 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: S352N
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000045663
Gene: ENSMUSG00000036825
AA Change: S352N
| 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: S352N
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000101755
Gene: ENSMUSG00000036825
AA Change: S352N
| 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: S352N
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000101757
Gene: ENSMUSG00000036825
AA Change: S352N
| 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: S352N
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000101759
Gene: ENSMUSG00000036825
AA Change: S352N
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.6%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700069L16Rik |
T |
G |
5: 113,861,765 (GRCm39) |
Q35P |
unknown |
Het |
| Angptl2 |
G |
A |
2: 33,118,230 (GRCm39) |
M1I |
probably null |
Het |
| Bptf |
T |
C |
11: 106,934,502 (GRCm39) |
E223G |
probably benign |
Het |
| C2cd3 |
T |
A |
7: 100,076,458 (GRCm39) |
I805N |
|
Het |
| Cep152 |
G |
A |
2: 125,423,660 (GRCm39) |
Q914* |
probably null |
Het |
| Clasp2 |
A |
G |
9: 113,725,740 (GRCm39) |
T794A |
probably benign |
Het |
| Cntnap2 |
A |
G |
6: 47,026,261 (GRCm39) |
Y970C |
probably damaging |
Het |
| Ddx11 |
G |
T |
17: 66,445,157 (GRCm39) |
V360L |
probably damaging |
Het |
| Fer1l6 |
G |
A |
15: 58,497,098 (GRCm39) |
V1223I |
probably benign |
Het |
| Fez2 |
A |
T |
17: 78,708,183 (GRCm39) |
I255N |
probably damaging |
Het |
| Gata3 |
A |
G |
2: 9,863,197 (GRCm39) |
V439A |
possibly damaging |
Het |
| Il23a |
G |
C |
10: 128,132,829 (GRCm39) |
R143G |
probably benign |
Het |
| Kcnj9 |
T |
A |
1: 172,153,741 (GRCm39) |
I128F |
probably damaging |
Het |
| Klhdc2 |
A |
G |
12: 69,350,393 (GRCm39) |
D146G |
probably damaging |
Het |
| Klra6 |
T |
A |
6: 129,999,639 (GRCm39) |
R110W |
probably damaging |
Het |
| Ldha |
A |
T |
7: 46,491,047 (GRCm39) |
|
probably benign |
Het |
| Lingo2 |
C |
A |
4: 35,708,781 (GRCm39) |
A400S |
probably benign |
Het |
| Lrrd1 |
A |
T |
5: 3,899,897 (GRCm39) |
R67S |
probably benign |
Het |
| Mapk6 |
C |
T |
9: 75,295,668 (GRCm39) |
C610Y |
possibly damaging |
Het |
| Mia3 |
G |
A |
1: 183,109,125 (GRCm39) |
R656* |
probably null |
Het |
| Myoz2 |
T |
C |
3: 122,807,399 (GRCm39) |
E137G |
probably damaging |
Het |
| Nemp2 |
T |
A |
1: 52,680,064 (GRCm39) |
I96N |
probably damaging |
Het |
| Npy1r |
A |
G |
8: 67,157,742 (GRCm39) |
M351V |
possibly damaging |
Het |
| Nsg2 |
G |
A |
11: 32,005,029 (GRCm39) |
S77N |
possibly damaging |
Het |
| Or10ag53 |
A |
G |
2: 87,082,568 (GRCm39) |
M96V |
probably damaging |
Het |
| Or5ac17 |
T |
A |
16: 59,036,069 (GRCm39) |
R302S |
possibly damaging |
Het |
| Or6c5c |
T |
C |
10: 129,298,677 (GRCm39) |
I44T |
probably benign |
Het |
| Osbpl9 |
G |
A |
4: 109,013,747 (GRCm39) |
|
probably benign |
Het |
| Pcolce2 |
G |
A |
9: 95,520,797 (GRCm39) |
C58Y |
probably damaging |
Het |
| Piezo1 |
A |
G |
8: 123,208,927 (GRCm39) |
F2480L |
probably damaging |
Het |
| Pip5k1c |
T |
A |
10: 81,147,853 (GRCm39) |
D419E |
probably damaging |
Het |
| Plppr1 |
A |
T |
4: 49,323,435 (GRCm39) |
T242S |
probably benign |
Het |
| Ppp1r13b |
A |
C |
12: 111,803,457 (GRCm39) |
S254A |
possibly damaging |
Het |
| Pramel17 |
A |
G |
4: 101,694,244 (GRCm39) |
M213T |
probably benign |
Het |
| Ripk3 |
A |
G |
14: 56,023,252 (GRCm39) |
L151S |
unknown |
Het |
| Scmh1 |
A |
T |
4: 120,340,820 (GRCm39) |
M169L |
probably benign |
Het |
| Serpinb9d |
A |
T |
13: 33,382,007 (GRCm39) |
R159W |
probably damaging |
Het |
| Slc26a9 |
A |
G |
1: 131,690,970 (GRCm39) |
R583G |
possibly damaging |
Het |
| Smim8 |
T |
C |
4: 34,769,068 (GRCm39) |
E72G |
probably damaging |
Het |
| Sned1 |
A |
G |
1: 93,199,604 (GRCm39) |
N511S |
probably damaging |
Het |
| Srprb |
A |
C |
9: 103,078,490 (GRCm39) |
V80G |
probably benign |
Het |
| Tbccd1 |
A |
G |
16: 22,652,666 (GRCm39) |
S152P |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,555,761 (GRCm39) |
I2822T |
possibly damaging |
Het |
| Tff1 |
A |
G |
17: 31,383,972 (GRCm39) |
V8A |
probably benign |
Het |
| Tmem132b |
T |
A |
5: 125,864,566 (GRCm39) |
S891T |
probably benign |
Het |
| Tmem200c |
T |
A |
17: 69,149,118 (GRCm39) |
V567D |
probably damaging |
Het |
| Trim3 |
G |
A |
7: 105,260,377 (GRCm39) |
T708M |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,544,927 (GRCm39) |
N32725S |
possibly damaging |
Het |
| Ubash3b |
T |
G |
9: 40,926,214 (GRCm39) |
E633A |
possibly damaging |
Het |
| Usp4 |
A |
G |
9: 108,239,780 (GRCm39) |
R170G |
probably damaging |
Het |
| Wdr33 |
T |
A |
18: 32,037,406 (GRCm39) |
L1222Q |
unknown |
Het |
| Zfhx2 |
A |
G |
14: 55,304,562 (GRCm39) |
S1141P |
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 |
|
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 |
|
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'- TAACAGTCAGATGCGGTGC -3'
(R):5'- GGGCGACACTGTTCTCTAAG -3'
Sequencing Primer
(F):5'- CCCTGGTGTACAGCCACTG -3'
(R):5'- GTTCTGAAGCCAAGTGCATTTC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation