Incidental Mutation 'R5148:Ssbp1'
ID |
395198 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ssbp1
|
Ensembl Gene |
ENSMUSG00000029911 |
Gene Name |
single-stranded DNA binding protein 1 |
Synonyms |
2810480P10Rik, G630031O20Rik, mtDBP |
MMRRC Submission |
043262-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5148 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
40448302-40458757 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 40454883 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 114
(V114A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031971
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031971]
[ENSMUST00000114779]
[ENSMUST00000117411]
[ENSMUST00000117830]
[ENSMUST00000121360]
|
AlphaFold |
Q9CYR0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031971
AA Change: V114A
PolyPhen 2
Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000031971 Gene: ENSMUSG00000029911 AA Change: V114A
Domain | Start | End | E-Value | Type |
Pfam:SSB
|
30 |
140 |
2.1e-32 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114779
AA Change: V114A
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000110427 Gene: ENSMUSG00000029911 AA Change: V114A
Domain | Start | End | E-Value | Type |
Pfam:SSB
|
30 |
140 |
1.6e-34 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117411
AA Change: V114A
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000114082 Gene: ENSMUSG00000029911 AA Change: V114A
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: V114A
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000113563 Gene: ENSMUSG00000029911 AA Change: V114A
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (48/48) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank2 |
A |
T |
3: 126,819,285 (GRCm39) |
|
probably null |
Het |
Atf7 |
A |
G |
15: 102,455,608 (GRCm39) |
M252T |
probably benign |
Het |
Cacna1h |
C |
A |
17: 25,606,519 (GRCm39) |
D1027Y |
probably damaging |
Het |
Cngb1 |
A |
G |
8: 95,992,611 (GRCm39) |
V667A |
probably benign |
Het |
Cntf |
T |
C |
19: 12,741,368 (GRCm39) |
E164G |
probably damaging |
Het |
Dbt |
T |
C |
3: 116,321,893 (GRCm39) |
|
probably benign |
Het |
Egfem1 |
G |
A |
3: 29,511,972 (GRCm39) |
|
probably benign |
Het |
Gm12790 |
C |
T |
4: 101,825,268 (GRCm39) |
V49I |
possibly damaging |
Het |
Gm5444 |
C |
T |
13: 4,884,314 (GRCm39) |
|
noncoding transcript |
Het |
Gpcpd1 |
A |
T |
2: 132,376,110 (GRCm39) |
Y574* |
probably null |
Het |
Gss |
G |
T |
2: 155,415,029 (GRCm39) |
N225K |
possibly damaging |
Het |
Il17rc |
G |
T |
6: 113,459,958 (GRCm39) |
A635S |
probably benign |
Het |
Lhfpl5 |
T |
A |
17: 28,798,942 (GRCm39) |
D150E |
probably damaging |
Het |
Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
Lrrc40 |
T |
G |
3: 157,760,206 (GRCm39) |
|
probably null |
Het |
Ly6f |
A |
G |
15: 75,143,646 (GRCm39) |
T118A |
probably benign |
Het |
Malrd1 |
A |
G |
2: 16,147,037 (GRCm39) |
N1960D |
unknown |
Het |
Map3k14 |
T |
C |
11: 103,130,158 (GRCm39) |
H253R |
probably benign |
Het |
Morc2a |
T |
C |
11: 3,639,084 (GRCm39) |
L1025P |
probably damaging |
Het |
Nlrc5 |
G |
T |
8: 95,203,321 (GRCm39) |
G474W |
probably damaging |
Het |
Olr1 |
G |
T |
6: 129,470,572 (GRCm39) |
D198E |
probably benign |
Het |
Or5b123 |
C |
A |
19: 13,596,874 (GRCm39) |
S116* |
probably null |
Het |
Or5d14 |
G |
A |
2: 87,880,737 (GRCm39) |
T77I |
probably benign |
Het |
Or8c16 |
T |
C |
9: 38,130,317 (GRCm39) |
I66T |
probably benign |
Het |
Pafah1b1 |
A |
T |
11: 74,575,278 (GRCm39) |
S209T |
probably damaging |
Het |
Phf14 |
A |
T |
6: 11,961,641 (GRCm39) |
Y426F |
possibly damaging |
Het |
Phldb1 |
A |
G |
9: 44,615,455 (GRCm39) |
V855A |
probably benign |
Het |
Pira2 |
T |
G |
7: 3,847,592 (GRCm39) |
R32S |
possibly damaging |
Het |
Pnldc1 |
T |
C |
17: 13,111,676 (GRCm39) |
I344V |
probably benign |
Het |
Prss29 |
T |
C |
17: 25,539,881 (GRCm39) |
V93A |
probably benign |
Het |
Ptpn13 |
C |
T |
5: 103,640,098 (GRCm39) |
L186F |
probably damaging |
Het |
Ralgps1 |
A |
C |
2: 33,048,999 (GRCm39) |
C303W |
probably damaging |
Het |
Sdr42e1 |
T |
A |
8: 118,390,342 (GRCm39) |
N100Y |
probably damaging |
Het |
Serpina11 |
A |
T |
12: 103,952,503 (GRCm39) |
L96Q |
probably damaging |
Het |
Slc12a8 |
G |
A |
16: 33,445,288 (GRCm39) |
R448H |
probably benign |
Het |
Snrpd1 |
T |
A |
18: 10,626,892 (GRCm39) |
V53E |
probably benign |
Het |
T |
A |
G |
17: 8,655,037 (GRCm39) |
E47G |
probably damaging |
Het |
Tmem156 |
T |
C |
5: 65,231,111 (GRCm39) |
K189R |
probably benign |
Het |
Trim47 |
G |
T |
11: 115,998,678 (GRCm39) |
Q314K |
possibly damaging |
Het |
Vmn2r3 |
G |
T |
3: 64,186,247 (GRCm39) |
P146Q |
probably damaging |
Het |
Vmn2r6 |
A |
C |
3: 64,464,015 (GRCm39) |
V273G |
probably damaging |
Het |
Wrnip1 |
G |
T |
13: 32,990,839 (GRCm39) |
R366L |
probably damaging |
Het |
Zfp981 |
A |
T |
4: 146,621,357 (GRCm39) |
H94L |
possibly 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 |
R2394:Ssbp1
|
UTSW |
6 |
40,453,743 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
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'- AGATTGCATTGTGTTTCAGTCC -3'
(R):5'- TGGACAACATTAGCACACAGG -3'
Sequencing Primer
(F):5'- GCATTGTGTTTCAGTCCTCTTAG -3'
(R):5'- CCCTGGGGAGTTTCCTGCAG -3'
|
Posted On |
2016-06-21 |