Incidental Mutation 'R2394:Ssbp1'
ID |
247906 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ssbp1
|
Ensembl Gene |
ENSMUSG00000029911 |
Gene Name |
single-stranded DNA binding protein 1 |
Synonyms |
2810480P10Rik, G630031O20Rik, mtDBP |
MMRRC Submission |
040362-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2394 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
40448302-40458757 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 40453743 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 96
(D96E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113563
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031971]
[ENSMUST00000114779]
[ENSMUST00000117411]
[ENSMUST00000117830]
[ENSMUST00000121360]
|
AlphaFold |
Q9CYR0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031971
AA Change: D96E
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000031971 Gene: ENSMUSG00000029911 AA Change: D96E
Domain | Start | End | E-Value | Type |
Pfam:SSB
|
30 |
140 |
2.1e-32 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114779
AA Change: D96E
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000110427 Gene: ENSMUSG00000029911 AA Change: D96E
Domain | Start | End | E-Value | Type |
Pfam:SSB
|
30 |
140 |
1.6e-34 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117411
AA Change: D96E
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000114082 Gene: ENSMUSG00000029911 AA Change: D96E
Domain | Start | End | E-Value | Type |
Pfam:SSB
|
30 |
140 |
1.6e-34 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117830
|
SMART Domains |
Protein: ENSMUSP00000113815 Gene: ENSMUSG00000029911
Domain | Start | End | E-Value | Type |
Pfam:SSB
|
30 |
75 |
8.8e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121360
AA Change: D96E
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000113563 Gene: ENSMUSG00000029911 AA Change: D96E
Domain | Start | End | E-Value | Type |
Pfam:SSB
|
30 |
140 |
1.6e-34 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141801
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201570
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
100% (41/41) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SSBP1 is a housekeeping gene involved in mitochondrial biogenesis (Tiranti et al., 1995 [PubMed 7789991]). It is also a subunit of a single-stranded DNA (ssDNA)-binding complex involved in the maintenance of genome stability (Huang et al., 2009) [PubMed 19683501].[supplied by OMIM, Feb 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020L13Rik |
A |
T |
7: 29,980,053 (GRCm39) |
|
probably benign |
Het |
Abca17 |
T |
C |
17: 24,500,190 (GRCm39) |
|
probably null |
Het |
Atxn7 |
T |
C |
14: 14,100,237 (GRCm38) |
V641A |
probably damaging |
Het |
C3 |
G |
A |
17: 57,529,303 (GRCm39) |
Q30* |
probably null |
Het |
Ccdc162 |
A |
G |
10: 41,445,894 (GRCm39) |
I426T |
probably damaging |
Het |
Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
Cwc27 |
A |
C |
13: 104,932,942 (GRCm39) |
D253E |
probably benign |
Het |
Cyp1a1 |
T |
A |
9: 57,607,432 (GRCm39) |
V20D |
probably benign |
Het |
Dmbt1 |
T |
A |
7: 130,696,464 (GRCm39) |
Y892* |
probably null |
Het |
Dnhd1 |
T |
A |
7: 105,369,438 (GRCm39) |
Y4354N |
probably benign |
Het |
Dync2li1 |
T |
A |
17: 84,952,175 (GRCm39) |
I202K |
possibly damaging |
Het |
Dyrk1a |
T |
A |
16: 94,485,991 (GRCm39) |
V446E |
probably benign |
Het |
Efcab3 |
C |
A |
11: 104,629,121 (GRCm39) |
T933K |
probably benign |
Het |
Fam186b |
T |
C |
15: 99,178,058 (GRCm39) |
I423V |
probably benign |
Het |
Gm5108 |
T |
C |
5: 68,132,475 (GRCm39) |
|
probably benign |
Het |
Htr3a |
A |
G |
9: 48,817,643 (GRCm39) |
V110A |
probably benign |
Het |
Itsn2 |
C |
A |
12: 4,757,005 (GRCm39) |
S1365Y |
possibly damaging |
Het |
Lrrc46 |
T |
C |
11: 96,929,657 (GRCm39) |
I60V |
probably damaging |
Het |
Mtrex |
A |
T |
13: 113,019,702 (GRCm39) |
Y803N |
probably benign |
Het |
Nlrp14 |
T |
C |
7: 106,797,031 (GRCm39) |
V307A |
probably benign |
Het |
Nt5c2 |
A |
G |
19: 46,878,506 (GRCm39) |
|
probably null |
Het |
Obox2 |
C |
T |
7: 15,130,935 (GRCm39) |
P56S |
possibly damaging |
Het |
Olfml2b |
A |
G |
1: 170,477,319 (GRCm39) |
I151M |
possibly damaging |
Het |
Oog3 |
T |
A |
4: 143,885,884 (GRCm39) |
D238V |
probably benign |
Het |
Pde11a |
T |
C |
2: 75,889,405 (GRCm39) |
T690A |
probably benign |
Het |
Ppa1 |
A |
G |
10: 61,508,163 (GRCm39) |
|
probably benign |
Het |
Ppfia2 |
A |
G |
10: 106,655,351 (GRCm39) |
E306G |
probably damaging |
Het |
Ppic |
G |
A |
18: 53,544,119 (GRCm39) |
R89C |
probably damaging |
Het |
Ptprk |
T |
G |
10: 28,427,713 (GRCm39) |
I764S |
probably damaging |
Het |
Ripk2 |
T |
C |
4: 16,132,774 (GRCm39) |
|
probably benign |
Het |
Rnf123 |
A |
G |
9: 107,940,735 (GRCm39) |
M702T |
probably benign |
Het |
Slco1b2 |
T |
C |
6: 141,615,100 (GRCm39) |
I335T |
probably damaging |
Het |
Tpp2 |
T |
A |
1: 44,022,346 (GRCm39) |
S915T |
possibly damaging |
Het |
Unc5c |
A |
T |
3: 141,383,892 (GRCm39) |
Q90L |
probably damaging |
Het |
Vmn2r57 |
A |
G |
7: 41,049,619 (GRCm39) |
I710T |
possibly damaging |
Het |
Wdr90 |
G |
A |
17: 26,070,429 (GRCm39) |
P1104L |
probably damaging |
Het |
|
Other mutations in Ssbp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01088:Ssbp1
|
APN |
6 |
40,455,004 (GRCm39) |
intron |
probably benign |
|
IGL01685:Ssbp1
|
APN |
6 |
40,453,699 (GRCm39) |
missense |
probably damaging |
0.98 |
R2089:Ssbp1
|
UTSW |
6 |
40,453,433 (GRCm39) |
missense |
probably null |
0.98 |
R2091:Ssbp1
|
UTSW |
6 |
40,453,433 (GRCm39) |
missense |
probably null |
0.98 |
R2091:Ssbp1
|
UTSW |
6 |
40,453,433 (GRCm39) |
missense |
probably null |
0.98 |
R4284:Ssbp1
|
UTSW |
6 |
40,454,851 (GRCm39) |
splice site |
probably null |
|
R4738:Ssbp1
|
UTSW |
6 |
40,454,914 (GRCm39) |
missense |
probably damaging |
0.97 |
R5148:Ssbp1
|
UTSW |
6 |
40,454,883 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5790:Ssbp1
|
UTSW |
6 |
40,457,804 (GRCm39) |
missense |
probably benign |
0.22 |
R5849:Ssbp1
|
UTSW |
6 |
40,453,837 (GRCm39) |
intron |
probably benign |
|
R6318:Ssbp1
|
UTSW |
6 |
40,453,687 (GRCm39) |
missense |
probably benign |
0.00 |
R6484:Ssbp1
|
UTSW |
6 |
40,451,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R7739:Ssbp1
|
UTSW |
6 |
40,454,914 (GRCm39) |
missense |
probably damaging |
0.97 |
R8470:Ssbp1
|
UTSW |
6 |
40,454,941 (GRCm39) |
missense |
probably damaging |
1.00 |
R9335:Ssbp1
|
UTSW |
6 |
40,454,955 (GRCm39) |
missense |
probably damaging |
0.97 |
R9563:Ssbp1
|
UTSW |
6 |
40,454,968 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGGTGAGTGTAAAAGGCCC -3'
(R):5'- ACAGATGCTGTTTGTCCTAACTTGTC -3'
Sequencing Primer
(F):5'- TGAGTGTAAAAGGCCCTAGTTG -3'
(R):5'- TTGTCAGCGGGCTAAAACC -3'
|
Posted On |
2014-11-11 |