Incidental Mutation 'IGL02656:Ssbp2'
| ID |
302357 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ssbp2
|
| Ensembl Gene |
ENSMUSG00000003992 |
| Gene Name |
single-stranded DNA binding protein 2 |
| Synonyms |
9330163K02Rik, A830008M03Rik, Hspc116, Ssdp2, 2310079I02Rik, 1500004K09Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02656
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
91608402-91851548 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 91817871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004094]
[ENSMUST00000042122]
[ENSMUST00000231481]
|
| AlphaFold |
Q9CYZ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004094
|
| SMART Domains |
Protein: ENSMUSP00000004094
Gene: ENSMUSG00000003992
| Domain | Start | End | E-Value | Type |
|---|
|
LisH
|
18 |
50 |
2.18e-3 |
SMART |
|
Pfam:SSDP
|
83 |
125 |
5.9e-19 |
PFAM |
|
Pfam:SSDP
|
123 |
338 |
5.3e-68 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042122
|
| SMART Domains |
Protein: ENSMUSP00000037115
Gene: ENSMUSG00000003992
| Domain | Start | End | E-Value | Type |
|---|
|
LisH
|
18 |
50 |
2.18e-3 |
SMART |
|
Pfam:SSDP
|
94 |
313 |
2.7e-102 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137493
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137658
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156547
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231481
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of a protein complex that interacts with single-stranded DNA and is involved in the DNA damage response and maintenance of genome stability. The encoded protein may also play a role in telomere repair. A variant of this gene may be associated with survival in human glioblastoma patients. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice exhibit some perinatal lethality and premature death associated with increased incidence of lymphoma and carcinoma. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd28 |
G |
T |
14: 31,424,197 (GRCm39) |
A981D |
possibly damaging |
Het |
| Ccdc69 |
G |
T |
11: 54,943,263 (GRCm39) |
Q114K |
possibly damaging |
Het |
| Cct5 |
A |
T |
15: 31,597,576 (GRCm39) |
D66E |
probably damaging |
Het |
| Ces2e |
G |
T |
8: 105,653,688 (GRCm39) |
R42I |
possibly damaging |
Het |
| Cib2 |
T |
G |
9: 54,453,182 (GRCm39) |
D178A |
probably damaging |
Het |
| Cldn7 |
G |
A |
11: 69,857,834 (GRCm39) |
V97I |
probably benign |
Het |
| Dok3 |
A |
T |
13: 55,676,293 (GRCm39) |
I12N |
probably damaging |
Het |
| Fndc5 |
T |
A |
4: 129,033,239 (GRCm39) |
V102E |
probably damaging |
Het |
| Gas2 |
T |
C |
7: 51,593,492 (GRCm39) |
S191P |
probably benign |
Het |
| Herc6 |
T |
A |
6: 57,588,821 (GRCm39) |
|
probably null |
Het |
| Krt18 |
A |
G |
15: 101,939,357 (GRCm39) |
T277A |
probably benign |
Het |
| Mpp3 |
A |
G |
11: 101,899,427 (GRCm39) |
S365P |
probably benign |
Het |
| Msmo1 |
T |
C |
8: 65,180,906 (GRCm39) |
T3A |
probably benign |
Het |
| Or1e34 |
A |
G |
11: 73,778,865 (GRCm39) |
F111S |
probably damaging |
Het |
| Or4e2 |
G |
T |
14: 52,688,166 (GRCm39) |
A99S |
possibly damaging |
Het |
| Or8g18 |
T |
A |
9: 39,149,456 (GRCm39) |
E88V |
probably benign |
Het |
| Pex19 |
C |
A |
1: 171,958,252 (GRCm39) |
A77E |
probably benign |
Het |
| Phf20l1 |
A |
G |
15: 66,501,676 (GRCm39) |
D620G |
probably damaging |
Het |
| Prr5 |
A |
G |
15: 84,583,337 (GRCm39) |
D105G |
probably damaging |
Het |
| Rab12 |
T |
A |
17: 66,813,049 (GRCm39) |
K88M |
probably damaging |
Het |
| Rictor |
T |
C |
15: 6,806,401 (GRCm39) |
V673A |
probably damaging |
Het |
| Rps26 |
A |
G |
10: 128,461,126 (GRCm39) |
S88P |
possibly damaging |
Het |
| Sema5a |
T |
A |
15: 32,631,431 (GRCm39) |
S605T |
possibly damaging |
Het |
| Slc35a4 |
T |
C |
18: 36,815,500 (GRCm39) |
M110T |
probably damaging |
Het |
| Sowahb |
T |
C |
5: 93,191,106 (GRCm39) |
S538G |
probably benign |
Het |
| Srrt |
T |
A |
5: 137,297,938 (GRCm39) |
|
probably benign |
Het |
| Supt20 |
C |
T |
3: 54,615,816 (GRCm39) |
R236W |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,534,640 (GRCm39) |
D1791G |
probably damaging |
Het |
| Tgm6 |
G |
A |
2: 129,987,023 (GRCm39) |
G497D |
probably damaging |
Het |
| Trim12c |
C |
T |
7: 103,990,410 (GRCm39) |
V356I |
probably damaging |
Het |
| Vwce |
T |
A |
19: 10,641,716 (GRCm39) |
I814K |
probably benign |
Het |
|
| Other mutations in Ssbp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02962:Ssbp2
|
APN |
13 |
91,790,490 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL03201:Ssbp2
|
APN |
13 |
91,672,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0190:Ssbp2
|
UTSW |
13 |
91,817,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0277:Ssbp2
|
UTSW |
13 |
91,712,715 (GRCm39) |
splice site |
probably benign |
|
|
R0329:Ssbp2
|
UTSW |
13 |
91,828,698 (GRCm39) |
splice site |
probably null |
|
|
R0330:Ssbp2
|
UTSW |
13 |
91,828,698 (GRCm39) |
splice site |
probably null |
|
|
R1551:Ssbp2
|
UTSW |
13 |
91,790,511 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1846:Ssbp2
|
UTSW |
13 |
91,812,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1957:Ssbp2
|
UTSW |
13 |
91,812,303 (GRCm39) |
splice site |
probably benign |
|
|
R3732:Ssbp2
|
UTSW |
13 |
91,672,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3744:Ssbp2
|
UTSW |
13 |
91,828,765 (GRCm39) |
splice site |
probably benign |
|
|
R4469:Ssbp2
|
UTSW |
13 |
91,842,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4665:Ssbp2
|
UTSW |
13 |
91,687,454 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4724:Ssbp2
|
UTSW |
13 |
91,836,933 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5477:Ssbp2
|
UTSW |
13 |
91,812,244 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6015:Ssbp2
|
UTSW |
13 |
91,817,862 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6332:Ssbp2
|
UTSW |
13 |
91,839,027 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6523:Ssbp2
|
UTSW |
13 |
91,841,170 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6548:Ssbp2
|
UTSW |
13 |
91,687,470 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6655:Ssbp2
|
UTSW |
13 |
91,812,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7227:Ssbp2
|
UTSW |
13 |
91,823,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7295:Ssbp2
|
UTSW |
13 |
91,842,122 (GRCm39) |
splice site |
probably null |
|
|
R7401:Ssbp2
|
UTSW |
13 |
91,839,002 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7488:Ssbp2
|
UTSW |
13 |
91,823,209 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7823:Ssbp2
|
UTSW |
13 |
91,790,448 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8884:Ssbp2
|
UTSW |
13 |
91,836,989 (GRCm39) |
splice site |
probably benign |
|
|
R9147:Ssbp2
|
UTSW |
13 |
91,842,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9148:Ssbp2
|
UTSW |
13 |
91,842,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9182:Ssbp2
|
UTSW |
13 |
91,848,800 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9255:Ssbp2
|
UTSW |
13 |
91,818,525 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9449:Ssbp2
|
UTSW |
13 |
91,823,157 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0026:Ssbp2
|
UTSW |
13 |
91,817,807 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
| Posted On |
2015-04-16 |
Incidental Mutation