Incidental Mutation 'R6777:Ssx2ip'
ID |
531330 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ssx2ip
|
Ensembl Gene |
ENSMUSG00000036825 |
Gene Name |
SSX family member 2 interacting protein |
Synonyms |
Adip |
MMRRC Submission |
044893-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6777 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
146110397-146145899 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 146144476 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 580
(T580M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101759
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039021]
[ENSMUST00000106149]
[ENSMUST00000106151]
[ENSMUST00000106153]
|
AlphaFold |
Q8VC66 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039021
AA Change: T579M
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000045663 Gene: ENSMUSG00000036825 AA Change: T579M
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 |
possibly damaging
Transcript: ENSMUST00000106149
AA Change: T579M
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000101755 Gene: ENSMUSG00000036825 AA Change: T579M
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 |
possibly damaging
Transcript: ENSMUST00000106151
AA Change: T579M
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000101757 Gene: ENSMUSG00000036825 AA Change: T579M
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 |
possibly damaging
Transcript: ENSMUST00000106153
AA Change: T580M
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000101759 Gene: ENSMUSG00000036825 AA Change: T580M
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
Validation Efficiency |
100% (32/32) |
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900092C05Rik |
A |
T |
7: 12,246,756 (GRCm39) |
L45F |
probably benign |
Het |
Adam7 |
T |
C |
14: 68,762,784 (GRCm39) |
Y147C |
probably damaging |
Het |
Adss2 |
A |
T |
1: 177,603,902 (GRCm39) |
|
probably null |
Het |
Atp2c1 |
T |
A |
9: 105,295,799 (GRCm39) |
I812L |
possibly damaging |
Het |
Capn2 |
A |
G |
1: 182,297,742 (GRCm39) |
|
probably null |
Het |
Crybg3 |
A |
G |
16: 59,378,678 (GRCm39) |
|
probably benign |
Het |
Cux1 |
C |
G |
5: 136,594,422 (GRCm39) |
|
probably benign |
Het |
Dkk2 |
T |
A |
3: 131,879,572 (GRCm39) |
C84S |
probably damaging |
Het |
Eml3 |
T |
C |
19: 8,914,086 (GRCm39) |
V128A |
probably benign |
Het |
Fzr1 |
A |
G |
10: 81,206,327 (GRCm39) |
Y148H |
probably damaging |
Het |
Galnt9 |
G |
A |
5: 110,768,465 (GRCm39) |
R587H |
probably damaging |
Het |
Ganc |
A |
G |
2: 120,274,630 (GRCm39) |
T584A |
probably damaging |
Het |
Gldc |
T |
C |
19: 30,110,912 (GRCm39) |
T564A |
probably damaging |
Het |
Gm49359 |
A |
T |
13: 62,603,006 (GRCm39) |
C65S |
probably benign |
Het |
Hspa12a |
A |
G |
19: 58,810,519 (GRCm39) |
Y175H |
probably benign |
Het |
Ly6g |
A |
G |
15: 75,030,431 (GRCm39) |
D60G |
probably benign |
Het |
Or11j4 |
A |
T |
14: 50,631,115 (GRCm39) |
M301L |
probably damaging |
Het |
Pex1 |
T |
A |
5: 3,672,358 (GRCm39) |
C694S |
probably benign |
Het |
Pkd1l3 |
T |
C |
8: 110,353,446 (GRCm39) |
F676L |
probably benign |
Het |
Pla2g2c |
T |
C |
4: 138,470,976 (GRCm39) |
V119A |
probably benign |
Het |
Ralgps2 |
A |
G |
1: 156,715,515 (GRCm39) |
|
probably null |
Het |
Rbp3 |
C |
A |
14: 33,676,230 (GRCm39) |
H59Q |
probably benign |
Het |
Serpina3c |
T |
C |
12: 104,118,069 (GRCm39) |
K90E |
probably benign |
Het |
Slc24a3 |
A |
G |
2: 145,482,202 (GRCm39) |
Y620C |
probably damaging |
Het |
Smg1 |
C |
A |
7: 117,788,340 (GRCm39) |
|
probably benign |
Het |
Srp68 |
A |
T |
11: 116,153,730 (GRCm39) |
V198E |
probably damaging |
Het |
Terf2 |
A |
G |
8: 107,797,169 (GRCm39) |
V434A |
possibly damaging |
Het |
Tmem242 |
G |
A |
17: 5,483,830 (GRCm39) |
P71S |
probably damaging |
Het |
Tmprss13 |
C |
T |
9: 45,247,399 (GRCm39) |
R254* |
probably null |
Het |
Trgv3 |
A |
G |
13: 19,427,450 (GRCm39) |
Y111C |
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 |
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 |
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'- GAGTGCAGCCTCCTGTTTTC -3'
(R):5'- ACGACTGACTTTATGCTACACC -3'
Sequencing Primer
(F):5'- ACATAGTGTTAGTGCAGACGTG -3'
(R):5'- ATGCTACACCCTGTGTCAAC -3'
|
Posted On |
2018-08-29 |