Incidental Mutation 'R6015:Ssbp2'
| ID |
478577 |
| 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 |
043254-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6015 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
91608402-91851548 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 91817862 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 null
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 null
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 null
Transcript: ENSMUST00000231481
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano5 |
A |
C |
7: 51,224,525 (GRCm39) |
S480R |
probably benign |
Het |
| Aqr |
A |
G |
2: 114,005,646 (GRCm39) |
M1T |
probably null |
Het |
| Arhgef28 |
A |
G |
13: 98,211,530 (GRCm39) |
V151A |
possibly damaging |
Het |
| Atp6v1b2 |
T |
A |
8: 69,555,148 (GRCm39) |
I170N |
probably damaging |
Het |
| Atxn2 |
T |
A |
5: 121,949,055 (GRCm39) |
V817D |
probably damaging |
Het |
| Cdh23 |
A |
C |
10: 60,143,761 (GRCm39) |
I2950S |
probably damaging |
Het |
| Ces1h |
A |
G |
8: 94,083,691 (GRCm39) |
L417P |
unknown |
Het |
| Cimap3 |
T |
C |
3: 105,906,937 (GRCm39) |
D154G |
possibly damaging |
Het |
| Csf1r |
A |
G |
18: 61,242,784 (GRCm39) |
E49G |
possibly damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 16,287,346 (GRCm39) |
S726P |
possibly damaging |
Het |
| Grik2 |
A |
T |
10: 49,399,959 (GRCm39) |
|
probably null |
Het |
| Il9r |
A |
G |
11: 32,142,674 (GRCm39) |
V287A |
probably benign |
Het |
| Inpp5b |
T |
C |
4: 124,692,143 (GRCm39) |
C909R |
possibly damaging |
Het |
| Kat7 |
G |
A |
11: 95,174,860 (GRCm39) |
H384Y |
probably damaging |
Het |
| Lama5 |
A |
G |
2: 179,827,185 (GRCm39) |
S2272P |
probably benign |
Het |
| Megf10 |
A |
G |
18: 57,386,100 (GRCm39) |
H371R |
probably benign |
Het |
| Moxd2 |
A |
T |
6: 40,860,688 (GRCm39) |
Y310N |
probably damaging |
Het |
| Ntrk2 |
A |
T |
13: 59,208,209 (GRCm39) |
E685V |
probably damaging |
Het |
| Ogfr |
G |
T |
2: 180,236,467 (GRCm39) |
G351W |
probably damaging |
Het |
| Or52ac1 |
G |
T |
7: 104,245,915 (GRCm39) |
P158T |
probably damaging |
Het |
| Parp3 |
C |
T |
9: 106,351,481 (GRCm39) |
V207M |
possibly damaging |
Het |
| Pfkfb3 |
T |
C |
2: 11,486,146 (GRCm39) |
|
probably null |
Het |
| Pigr |
T |
C |
1: 130,774,998 (GRCm39) |
V475A |
probably benign |
Het |
| Pik3ap1 |
T |
A |
19: 41,316,640 (GRCm39) |
Y250F |
probably benign |
Het |
| Ppp1r3c |
A |
T |
19: 36,711,206 (GRCm39) |
I188N |
probably damaging |
Het |
| Prmt7 |
T |
G |
8: 106,961,640 (GRCm39) |
|
probably benign |
Het |
| Psapl1 |
T |
C |
5: 36,361,594 (GRCm39) |
V62A |
probably benign |
Het |
| Relch |
T |
C |
1: 105,619,683 (GRCm39) |
L280S |
probably damaging |
Het |
| Rpp14 |
G |
A |
14: 8,090,462 (GRCm38) |
V129I |
probably benign |
Het |
| Sema4f |
A |
G |
6: 82,916,553 (GRCm39) |
|
probably benign |
Het |
| Serpinb13 |
C |
A |
1: 106,928,337 (GRCm39) |
A319E |
probably benign |
Het |
| Sez6l2 |
A |
T |
7: 126,552,625 (GRCm39) |
S134C |
probably damaging |
Het |
| Slc4a10 |
T |
A |
2: 62,059,046 (GRCm39) |
H184Q |
probably benign |
Het |
| Slc9a9 |
G |
T |
9: 94,821,602 (GRCm39) |
A330S |
probably benign |
Het |
| Sord |
T |
C |
2: 122,087,424 (GRCm39) |
V176A |
probably damaging |
Het |
| Stab2 |
G |
T |
10: 86,773,906 (GRCm39) |
N808K |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,296,819 (GRCm39) |
|
probably null |
Het |
| Tpcn2 |
A |
G |
7: 144,820,588 (GRCm39) |
V341A |
probably damaging |
Het |
| Unc13b |
C |
A |
4: 43,177,995 (GRCm39) |
S2941* |
probably null |
Het |
| Utrn |
T |
A |
10: 12,354,168 (GRCm39) |
H2806L |
possibly damaging |
Het |
| Vmn1r40 |
C |
A |
6: 89,691,588 (GRCm39) |
A135D |
probably damaging |
Het |
| Vmn1r68 |
C |
T |
7: 10,261,616 (GRCm39) |
V161M |
probably benign |
Het |
| Wiz |
T |
A |
17: 32,606,574 (GRCm39) |
I54F |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGATCTTGTGAGAGATTCAAATGC -3'
(R):5'- TGCTTGTCCCAAGTCACACAC -3'
Sequencing Primer
(F):5'- TCAAATGCATTCTGTAGTTGCAG -3'
(R):5'- GTCACACACCGGCTTCAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation