Incidental Mutation 'R7227:Ssbp2'
| ID |
562249 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ssbp2
|
| Ensembl Gene |
ENSMUSG00000003992 |
| Gene Name |
single-stranded DNA binding protein 2 |
| Synonyms |
9330163K02Rik, A830008M03Rik, Hspc116, Ssdp2, 2310079I02Rik, 1500004K09Rik |
| MMRRC Submission |
045299-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7227 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
91608402-91851548 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91823244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 213
(M213T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004094
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004094]
[ENSMUST00000042122]
[ENSMUST00000231481]
|
| AlphaFold |
Q9CYZ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004094
AA Change: M213T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000004094
Gene: ENSMUSG00000003992
AA Change: M213T
| 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
AA Change: M183T
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000037115
Gene: ENSMUSG00000003992
AA Change: M183T
| Domain | Start | End | E-Value | Type |
|---|
|
LisH
|
18 |
50 |
2.18e-3 |
SMART |
|
Pfam:SSDP
|
94 |
313 |
2.7e-102 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231481
AA Change: M221T
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
97% (57/59) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
A |
T |
7: 130,952,449 (GRCm39) |
L344H |
probably damaging |
Het |
| Abcb1b |
T |
A |
5: 8,875,593 (GRCm39) |
S589T |
probably damaging |
Het |
| Acsm2 |
A |
C |
7: 119,190,556 (GRCm39) |
I520L |
probably benign |
Het |
| Ap2a2 |
T |
C |
7: 141,200,784 (GRCm39) |
Y544H |
probably damaging |
Het |
| Ascc1 |
T |
A |
10: 59,843,560 (GRCm39) |
Y41N |
probably benign |
Het |
| Bend3 |
T |
A |
10: 43,387,401 (GRCm39) |
L598Q |
probably damaging |
Het |
| Cfap74 |
T |
G |
4: 155,545,405 (GRCm39) |
Y1108* |
probably null |
Het |
| Cxcl17 |
C |
A |
7: 25,102,319 (GRCm39) |
R41S |
probably damaging |
Het |
| Cyp2c69 |
C |
A |
19: 39,869,610 (GRCm39) |
M136I |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,312,222 (GRCm39) |
Y4370H |
probably damaging |
Het |
| Dzip3 |
T |
A |
16: 48,771,932 (GRCm39) |
Q579L |
probably damaging |
Het |
| Enpp3 |
C |
T |
10: 24,693,742 (GRCm39) |
M195I |
unknown |
Het |
| Esyt2 |
A |
G |
12: 116,305,745 (GRCm39) |
D325G |
probably damaging |
Het |
| Fat1 |
T |
G |
8: 45,463,646 (GRCm39) |
I1396S |
probably benign |
Het |
| Gigyf1 |
T |
A |
5: 137,522,085 (GRCm39) |
I661K |
unknown |
Het |
| Gja1 |
T |
A |
10: 56,263,752 (GRCm39) |
L37Q |
probably damaging |
Het |
| Hivep1 |
T |
C |
13: 42,310,387 (GRCm39) |
S876P |
probably benign |
Het |
| Hk3 |
C |
T |
13: 55,160,053 (GRCm39) |
R362H |
probably benign |
Het |
| Ier3ip1 |
T |
A |
18: 77,027,330 (GRCm39) |
M53K |
probably benign |
Het |
| Klhl5 |
T |
C |
5: 65,298,631 (GRCm39) |
S137P |
probably benign |
Het |
| Kremen2 |
G |
T |
17: 23,963,573 (GRCm39) |
Y70* |
probably null |
Het |
| Lag3 |
C |
T |
6: 124,885,457 (GRCm39) |
G308S |
possibly damaging |
Het |
| Mab21l4 |
G |
T |
1: 93,079,736 (GRCm39) |
N451K |
probably benign |
Het |
| Map4k2 |
T |
A |
19: 6,396,624 (GRCm39) |
L542Q |
probably damaging |
Het |
| Mef2d |
G |
A |
3: 88,065,514 (GRCm39) |
|
probably null |
Het |
| Mkrn3 |
C |
A |
7: 62,069,415 (GRCm39) |
R125S |
probably benign |
Het |
| Mpp3 |
T |
A |
11: 101,895,904 (GRCm39) |
Y457F |
possibly damaging |
Het |
| Mrpl12 |
T |
A |
11: 120,379,178 (GRCm39) |
I175N |
probably damaging |
Het |
| Mybbp1a |
G |
T |
11: 72,338,585 (GRCm39) |
K728N |
possibly damaging |
Het |
| Nfkb1 |
C |
T |
3: 135,332,420 (GRCm39) |
V112M |
probably damaging |
Het |
| Nucb2 |
A |
T |
7: 116,125,311 (GRCm39) |
D123V |
probably damaging |
Het |
| Or12j2 |
A |
G |
7: 139,915,534 (GRCm39) |
|
probably benign |
Het |
| Orc3 |
T |
C |
4: 34,572,542 (GRCm39) |
T629A |
probably benign |
Het |
| Pdk1 |
T |
A |
2: 71,714,245 (GRCm39) |
N218K |
possibly damaging |
Het |
| Plce1 |
A |
G |
19: 38,715,346 (GRCm39) |
T1298A |
probably benign |
Het |
| Ppan |
T |
A |
9: 20,799,496 (GRCm39) |
|
probably benign |
Het |
| Rap1gds1 |
C |
T |
3: 138,663,228 (GRCm39) |
G373R |
probably damaging |
Het |
| Scn2a |
A |
C |
2: 65,582,367 (GRCm39) |
I1572L |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,328,935 (GRCm39) |
Y1027N |
probably benign |
Het |
| Serpinb3a |
T |
A |
1: 106,979,359 (GRCm39) |
T48S |
probably damaging |
Het |
| Slc30a8 |
A |
G |
15: 52,195,032 (GRCm39) |
M264V |
probably benign |
Het |
| Slc44a3 |
A |
T |
3: 121,303,879 (GRCm39) |
C286S |
possibly damaging |
Het |
| Slc8a2 |
T |
C |
7: 15,878,906 (GRCm39) |
I464T |
possibly damaging |
Het |
| Smco1 |
T |
C |
16: 32,092,833 (GRCm39) |
M168T |
possibly damaging |
Het |
| Spns2 |
A |
T |
11: 72,349,513 (GRCm39) |
Y246* |
probably null |
Het |
| Stk40 |
G |
T |
4: 126,017,559 (GRCm39) |
A29S |
probably benign |
Het |
| Thrap3 |
A |
T |
4: 126,067,296 (GRCm39) |
F683I |
probably damaging |
Het |
| Tmc5 |
A |
G |
7: 118,269,889 (GRCm39) |
T880A |
possibly damaging |
Het |
| Trim38 |
T |
A |
13: 23,969,946 (GRCm39) |
N168K |
possibly damaging |
Het |
| Ube2d1 |
T |
A |
10: 71,091,702 (GRCm39) |
Y134F |
possibly damaging |
Het |
| Vmn1r67 |
T |
A |
7: 10,181,475 (GRCm39) |
Y246* |
probably null |
Het |
| Vmn2r18 |
T |
C |
5: 151,496,264 (GRCm39) |
T485A |
probably damaging |
Het |
| Wrn |
T |
A |
8: 33,738,974 (GRCm39) |
I1285F |
probably damaging |
Het |
| Xrcc1 |
C |
A |
7: 24,246,757 (GRCm39) |
H8Q |
probably damaging |
Het |
| Zkscan4 |
T |
C |
13: 21,668,413 (GRCm39) |
V317A |
probably benign |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACAGGCCTTATCCAATCAGG -3'
(R):5'- GCTAAATGTTGTCGATTATGGTACC -3'
Sequencing Primer
(F):5'- TGTGGTAGTCTGACCCTT -3'
(R):5'- AATGTTGTCGATTATGGTACCTAAAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation