Incidental Mutation 'R8470:Ssbp1'
| ID |
656986 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ssbp1
|
| Ensembl Gene |
ENSMUSG00000029911 |
| Gene Name |
single-stranded DNA binding protein 1 |
| Synonyms |
2810480P10Rik, G630031O20Rik, mtDBP |
| MMRRC Submission |
067914-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8470 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
40448302-40458757 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40454941 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 133
(I133M)
|
| 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: I133M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031971
Gene: ENSMUSG00000029911
AA Change: I133M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSB
|
30 |
140 |
2.1e-32 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114779
AA Change: I133M
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110427
Gene: ENSMUSG00000029911
AA Change: I133M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSB
|
30 |
140 |
1.6e-34 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117411
AA Change: I133M
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000114082
Gene: ENSMUSG00000029911
AA Change: I133M
| 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: I133M
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113563
Gene: ENSMUSG00000029911
AA Change: I133M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSB
|
30 |
140 |
1.6e-34 |
PFAM |
|
| Meta Mutation Damage Score |
0.2695 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (37/37) |
| 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 |
|---|
| Abraxas2 |
A |
T |
7: 132,476,685 (GRCm39) |
I142F |
probably damaging |
Het |
| Adamts16 |
A |
G |
13: 70,984,496 (GRCm39) |
Y56H |
probably damaging |
Het |
| Alms1 |
A |
G |
6: 85,618,357 (GRCm39) |
D2801G |
probably damaging |
Het |
| Anpep |
A |
G |
7: 79,489,269 (GRCm39) |
I301T |
probably benign |
Het |
| Atxn7l2 |
G |
A |
3: 108,114,285 (GRCm39) |
T159M |
probably benign |
Het |
| B130006D01Rik |
C |
T |
11: 95,617,175 (GRCm39) |
|
probably benign |
Het |
| Btf3l4b |
C |
A |
13: 96,217,432 (GRCm39) |
D136Y |
possibly damaging |
Het |
| Ccdc175 |
T |
C |
12: 72,202,392 (GRCm39) |
K301R |
probably damaging |
Het |
| Cecr2 |
A |
T |
6: 120,733,894 (GRCm39) |
Q627L |
probably benign |
Het |
| Cerkl |
C |
A |
2: 79,172,751 (GRCm39) |
M307I |
probably benign |
Het |
| Eif2ak4 |
A |
G |
2: 118,293,207 (GRCm39) |
I1254M |
probably damaging |
Het |
| Epha3 |
T |
C |
16: 63,664,510 (GRCm39) |
T37A |
probably benign |
Het |
| Fancm |
T |
C |
12: 65,171,931 (GRCm39) |
V1857A |
probably damaging |
Het |
| Gm3486 |
T |
C |
14: 41,206,538 (GRCm39) |
|
probably null |
Het |
| Il1r2 |
T |
C |
1: 40,162,416 (GRCm39) |
V353A |
probably damaging |
Het |
| Irgq |
A |
T |
7: 24,233,715 (GRCm39) |
R519W |
probably damaging |
Het |
| Map1b |
T |
A |
13: 99,652,950 (GRCm39) |
S16C |
probably damaging |
Het |
| Myo9a |
T |
G |
9: 59,739,573 (GRCm39) |
C762G |
probably damaging |
Het |
| Nup107 |
A |
T |
10: 117,606,374 (GRCm39) |
V454E |
probably damaging |
Het |
| Or10h5 |
A |
G |
17: 33,434,868 (GRCm39) |
V150A |
probably benign |
Het |
| Or4p20 |
A |
T |
2: 88,254,228 (GRCm39) |
I47N |
probably damaging |
Het |
| Or7g35 |
T |
G |
9: 19,496,265 (GRCm39) |
L144R |
probably damaging |
Het |
| Pcdha11 |
A |
G |
18: 37,145,937 (GRCm39) |
K676R |
probably benign |
Het |
| Pknox2 |
C |
T |
9: 36,834,986 (GRCm39) |
R161H |
probably damaging |
Het |
| Prr5l |
T |
C |
2: 101,547,430 (GRCm39) |
N365S |
probably benign |
Het |
| Prrg4 |
A |
G |
2: 104,679,501 (GRCm39) |
L8P |
probably damaging |
Het |
| Rasgrp2 |
T |
A |
19: 6,453,595 (GRCm39) |
|
probably null |
Het |
| Rtp4 |
A |
T |
16: 23,428,827 (GRCm39) |
H30L |
probably benign |
Het |
| Rxfp2 |
T |
G |
5: 149,993,834 (GRCm39) |
I632S |
possibly damaging |
Het |
| Spata31h1 |
A |
C |
10: 82,126,314 (GRCm39) |
F2232C |
probably damaging |
Het |
| Sptbn1 |
C |
A |
11: 30,070,758 (GRCm39) |
E1533D |
possibly damaging |
Het |
| Stap1 |
A |
G |
5: 86,242,602 (GRCm39) |
I188V |
possibly damaging |
Het |
| Topaz1 |
T |
C |
9: 122,603,173 (GRCm39) |
M1040T |
probably benign |
Het |
| Trpm3 |
T |
C |
19: 22,887,501 (GRCm39) |
F877L |
possibly damaging |
Het |
| Ush1c |
A |
G |
7: 45,858,674 (GRCm39) |
L538P |
probably damaging |
Het |
| Zfp518a |
G |
A |
19: 40,904,162 (GRCm39) |
A1364T |
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 |
|
|
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 |
|
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 |
|
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'- CAGCTTGTACTTGCTACCCATG -3'
(R):5'- GCTTTCATACCCCACAGAGTC -3'
Sequencing Primer
(F):5'- TGTCCTGACACCTCGAAAGC -3'
(R):5'- TCCCCCTGAACTAAACATGTGAGTAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation