Incidental Mutation 'IGL02962:Ssbp2'
ID |
365396 |
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 # |
IGL02962
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
91608402-91851548 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 91790490 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 118
(V118L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000004094
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004094]
[ENSMUST00000042122]
[ENSMUST00000231481]
|
AlphaFold |
Q9CYZ8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000004094
AA Change: V118L
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000004094 Gene: ENSMUSG00000003992 AA Change: V118L
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: ENSMUST00000133984
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137493
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156547
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231481
AA Change: V118L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
T |
A |
10: 100,446,455 (GRCm39) |
|
probably null |
Het |
9530068E07Rik |
T |
C |
11: 52,294,362 (GRCm39) |
V209A |
possibly damaging |
Het |
Abca3 |
T |
A |
17: 24,619,383 (GRCm39) |
V907E |
probably damaging |
Het |
Acvrl1 |
T |
C |
15: 101,033,382 (GRCm39) |
Y90H |
probably benign |
Het |
Aff3 |
T |
C |
1: 38,574,737 (GRCm39) |
D81G |
probably damaging |
Het |
Amn |
G |
T |
12: 111,240,951 (GRCm39) |
V152L |
probably damaging |
Het |
Arhgap44 |
A |
G |
11: 64,957,987 (GRCm39) |
|
probably benign |
Het |
Atad5 |
T |
A |
11: 79,999,405 (GRCm39) |
V895D |
possibly damaging |
Het |
Card9 |
T |
G |
2: 26,248,029 (GRCm39) |
|
probably null |
Het |
Ccer1 |
T |
C |
10: 97,529,702 (GRCm39) |
S122P |
unknown |
Het |
Ccr2 |
A |
G |
9: 123,905,712 (GRCm39) |
|
probably benign |
Het |
Dsg1a |
T |
A |
18: 20,473,381 (GRCm39) |
I818N |
possibly damaging |
Het |
Ear10 |
G |
T |
14: 44,160,774 (GRCm39) |
L18I |
probably damaging |
Het |
Mertk |
A |
G |
2: 128,619,374 (GRCm39) |
Y544C |
probably damaging |
Het |
Miga1 |
A |
T |
3: 151,990,978 (GRCm39) |
|
probably benign |
Het |
Myo18a |
T |
C |
11: 77,669,061 (GRCm39) |
V307A |
probably damaging |
Het |
Or5p64 |
A |
T |
7: 107,854,910 (GRCm39) |
I145N |
possibly damaging |
Het |
Or7a38 |
T |
A |
10: 78,752,773 (GRCm39) |
L33H |
probably damaging |
Het |
Pou2f3 |
T |
C |
9: 43,036,384 (GRCm39) |
|
probably benign |
Het |
Pramel23 |
T |
A |
4: 143,423,910 (GRCm39) |
E293V |
probably benign |
Het |
Prickle2 |
A |
C |
6: 92,353,403 (GRCm39) |
S744A |
probably benign |
Het |
Prkcb |
T |
A |
7: 122,024,270 (GRCm39) |
|
probably null |
Het |
Prkd2 |
A |
G |
7: 16,603,757 (GRCm39) |
T813A |
probably benign |
Het |
Prkra |
G |
A |
2: 76,463,891 (GRCm39) |
T257M |
probably damaging |
Het |
Rbm18 |
C |
T |
2: 36,012,886 (GRCm39) |
R102Q |
probably damaging |
Het |
Rbsn |
A |
G |
6: 92,167,307 (GRCm39) |
S446P |
probably benign |
Het |
Rpgrip1l |
A |
T |
8: 91,996,990 (GRCm39) |
V28D |
possibly damaging |
Het |
Sdccag8 |
A |
T |
1: 176,775,928 (GRCm39) |
K613I |
probably damaging |
Het |
Serbp1 |
G |
A |
6: 67,244,103 (GRCm39) |
G8D |
probably damaging |
Het |
Slc6a2 |
T |
A |
8: 93,699,390 (GRCm39) |
Y139* |
probably null |
Het |
Slc7a2 |
T |
A |
8: 41,358,621 (GRCm39) |
F321L |
probably damaging |
Het |
Slco1b2 |
G |
A |
6: 141,594,279 (GRCm39) |
S48N |
probably damaging |
Het |
Sugp1 |
T |
A |
8: 70,512,512 (GRCm39) |
|
probably benign |
Het |
Taar5 |
C |
A |
10: 23,846,883 (GRCm39) |
R94S |
possibly damaging |
Het |
Tgs1 |
G |
T |
4: 3,586,181 (GRCm39) |
A353S |
probably benign |
Het |
Trav1 |
A |
G |
14: 52,666,099 (GRCm39) |
E32G |
probably damaging |
Het |
Trp53bp2 |
T |
C |
1: 182,259,160 (GRCm39) |
V71A |
probably benign |
Het |
Vmn2r50 |
T |
C |
7: 9,784,252 (GRCm39) |
Y74C |
probably damaging |
Het |
Wars1 |
A |
T |
12: 108,841,706 (GRCm39) |
M147K |
probably damaging |
Het |
|
Other mutations in Ssbp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02656:Ssbp2
|
APN |
13 |
91,817,871 (GRCm39) |
splice site |
probably benign |
|
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 |
2015-12-18 |