Incidental Mutation 'IGL01685:Ssbp1'
| ID |
103929 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ssbp1
|
| Ensembl Gene |
ENSMUSG00000029911 |
| Gene Name |
single-stranded DNA binding protein 1 |
| Synonyms |
2810480P10Rik, G630031O20Rik, mtDBP |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01685
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
40448302-40458757 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40453699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 82
(T82A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031971
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031971]
[ENSMUST00000114779]
[ENSMUST00000117411]
[ENSMUST00000117830]
[ENSMUST00000121360]
|
| AlphaFold |
Q9CYR0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031971
AA Change: T82A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031971
Gene: ENSMUSG00000029911
AA Change: T82A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSB
|
30 |
140 |
2.1e-32 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114779
AA Change: T82A
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000110427
Gene: ENSMUSG00000029911
AA Change: T82A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSB
|
30 |
140 |
1.6e-34 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117411
AA Change: T82A
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114082
Gene: ENSMUSG00000029911
AA Change: T82A
| 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 |
possibly damaging
Transcript: ENSMUST00000121360
AA Change: T82A
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113563
Gene: ENSMUSG00000029911
AA Change: T82A
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
G |
T |
15: 94,301,327 (GRCm39) |
R66S |
possibly damaging |
Het |
| Adamtsl4 |
A |
G |
3: 95,591,905 (GRCm39) |
V61A |
possibly damaging |
Het |
| Arnt |
A |
G |
3: 95,381,992 (GRCm39) |
Y195C |
probably damaging |
Het |
| Brd3 |
A |
G |
2: 27,349,500 (GRCm39) |
I351T |
probably damaging |
Het |
| Cd28 |
T |
A |
1: 60,802,307 (GRCm39) |
Y75* |
probably null |
Het |
| Cyfip2 |
A |
G |
11: 46,098,315 (GRCm39) |
|
probably benign |
Het |
| Dip2a |
T |
G |
10: 76,163,583 (GRCm39) |
E39A |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,209,533 (GRCm39) |
V1200A |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,142,297 (GRCm39) |
L1216P |
probably damaging |
Het |
| Ecm2 |
A |
T |
13: 49,682,374 (GRCm39) |
I468F |
probably damaging |
Het |
| Gucy1b1 |
C |
A |
3: 81,942,592 (GRCm39) |
V517F |
probably benign |
Het |
| H2-T23 |
T |
C |
17: 36,343,536 (GRCm39) |
Q9R |
probably benign |
Het |
| Huwe1 |
T |
C |
X: 150,681,666 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
T |
8: 111,081,665 (GRCm39) |
K354* |
probably null |
Het |
| Ighv14-2 |
A |
T |
12: 113,958,121 (GRCm39) |
S107T |
probably damaging |
Het |
| Klk1b8 |
A |
C |
7: 43,604,294 (GRCm39) |
K254T |
possibly damaging |
Het |
| Lama3 |
T |
A |
18: 12,586,937 (GRCm39) |
|
probably benign |
Het |
| Macroh2a2 |
C |
T |
10: 61,593,550 (GRCm39) |
S42N |
probably damaging |
Het |
| Mbd6 |
G |
T |
10: 127,120,601 (GRCm39) |
|
probably benign |
Het |
| Mob1a |
A |
T |
6: 83,309,485 (GRCm39) |
E32D |
probably benign |
Het |
| Mrps27 |
A |
T |
13: 99,551,428 (GRCm39) |
Q397L |
possibly damaging |
Het |
| Or8b3 |
T |
C |
9: 38,314,317 (GRCm39) |
I46T |
possibly damaging |
Het |
| Pcdhb18 |
A |
C |
18: 37,624,984 (GRCm39) |
K771N |
probably benign |
Het |
| Pcdhgc5 |
T |
G |
18: 37,954,808 (GRCm39) |
L694R |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,143,066 (GRCm39) |
D815E |
probably benign |
Het |
| Plin4 |
T |
C |
17: 56,414,362 (GRCm39) |
K88E |
probably damaging |
Het |
| Rint1 |
A |
T |
5: 23,992,832 (GRCm39) |
|
probably benign |
Het |
| Trpm5 |
A |
T |
7: 142,636,091 (GRCm39) |
S558T |
probably benign |
Het |
| Tti1 |
A |
G |
2: 157,842,705 (GRCm39) |
S775P |
probably benign |
Het |
| Zic3 |
T |
C |
X: 57,077,088 (GRCm39) |
V183A |
probably benign |
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 |
|
|
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 |
|
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 |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation