Incidental Mutation 'IGL01470:Ssbp3'
| ID |
88261 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ssbp3
|
| Ensembl Gene |
ENSMUSG00000061887 |
| Gene Name |
single-stranded DNA binding protein 3 |
| Synonyms |
2610200M23Rik, 2610021L12Rik, 5730488C10Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01470
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
106768667-106906891 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 106894855 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116248
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030367]
[ENSMUST00000072753]
[ENSMUST00000097934]
[ENSMUST00000149926]
|
| AlphaFold |
Q9D032 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030367
|
| SMART Domains |
Protein: ENSMUSP00000030367
Gene: ENSMUSG00000061887
| Domain | Start | End | E-Value | Type |
|---|
|
LisH
|
16 |
48 |
2.18e-3 |
SMART |
|
Pfam:SSDP
|
81 |
365 |
8.2e-102 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072753
|
| SMART Domains |
Protein: ENSMUSP00000072536
Gene: ENSMUSG00000061887
| Domain | Start | End | E-Value | Type |
|---|
|
LisH
|
16 |
48 |
2.18e-3 |
SMART |
|
Pfam:SSDP
|
81 |
343 |
6.7e-112 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097934
|
| SMART Domains |
Protein: ENSMUSP00000095547
Gene: ENSMUSG00000061887
| Domain | Start | End | E-Value | Type |
|---|
|
LisH
|
16 |
48 |
2.18e-3 |
SMART |
|
Pfam:SSDP
|
81 |
151 |
6.3e-27 |
PFAM |
|
Pfam:SSDP
|
148 |
350 |
8.4e-88 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124936
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133827
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137786
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138475
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149926
|
| SMART Domains |
Protein: ENSMUSP00000116248
Gene: ENSMUSG00000061887
| Domain | Start | End | E-Value | Type |
|---|
|
LisH
|
16 |
48 |
2.18e-3 |
SMART |
|
Pfam:SSDP
|
81 |
126 |
1.4e-19 |
PFAM |
|
Pfam:SSDP
|
121 |
226 |
9.4e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146659
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141963
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156288
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the Ssdp (sequence-specific single-stranded DNA binding protein) family of proteins. The encoded protein binds specifically to single-stranded pyrimidine-rich DNA elements. The encoded protein has been shown to be important for head development and may play a role in the differentiation of spinal interneurons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Embryos homozygous for a gene trap mutation that deletes the proline-rich domain show a severe anterior truncation and a lethal headless phenotype (loss of fore- and midbrain). Embryos homozygous for a gene trap mutation which retains most of the proline-rich domain show normal head development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,382,414 (GRCm39) |
T1184A |
possibly damaging |
Het |
| A2ml1 |
A |
G |
6: 128,557,375 (GRCm39) |
I106T |
probably damaging |
Het |
| Asic4 |
C |
T |
1: 75,427,510 (GRCm39) |
A12V |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 29,821,099 (GRCm39) |
V1139D |
probably damaging |
Het |
| Edc4 |
T |
C |
8: 106,616,613 (GRCm39) |
|
probably benign |
Het |
| Eif4h |
A |
T |
5: 134,654,393 (GRCm39) |
|
probably null |
Het |
| Exog |
C |
A |
9: 119,291,592 (GRCm39) |
Q290K |
probably damaging |
Het |
| Fam83c |
A |
T |
2: 155,676,728 (GRCm39) |
I14K |
possibly damaging |
Het |
| Fes |
A |
T |
7: 80,033,021 (GRCm39) |
Y268N |
probably benign |
Het |
| Fhod1 |
A |
G |
8: 106,056,281 (GRCm39) |
L1144P |
probably damaging |
Het |
| Frem3 |
C |
T |
8: 81,340,944 (GRCm39) |
T1079I |
probably damaging |
Het |
| Gbp10 |
A |
G |
5: 105,368,980 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,404,918 (GRCm39) |
V4496A |
possibly damaging |
Het |
| Lamb1 |
A |
G |
12: 31,350,261 (GRCm39) |
R729G |
possibly damaging |
Het |
| Lifr |
T |
A |
15: 7,205,147 (GRCm39) |
C461* |
probably null |
Het |
| Lypd6 |
T |
C |
2: 50,078,795 (GRCm39) |
V97A |
probably benign |
Het |
| Map3k5 |
A |
G |
10: 19,993,933 (GRCm39) |
E973G |
possibly damaging |
Het |
| Mep1b |
A |
T |
18: 21,230,524 (GRCm39) |
N692I |
probably benign |
Het |
| Mrpl15 |
A |
G |
1: 4,846,754 (GRCm39) |
V274A |
probably damaging |
Het |
| Naaa |
A |
G |
5: 92,411,507 (GRCm39) |
I264T |
probably damaging |
Het |
| Nlrp4c |
T |
C |
7: 6,103,783 (GRCm39) |
C906R |
possibly damaging |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Or4x11 |
T |
C |
2: 89,868,162 (GRCm39) |
W300R |
possibly damaging |
Het |
| Or5b95 |
T |
C |
19: 12,658,035 (GRCm39) |
S188P |
possibly damaging |
Het |
| Or8b38 |
A |
T |
9: 37,973,300 (GRCm39) |
H228L |
possibly damaging |
Het |
| Or8k3 |
T |
C |
2: 86,058,628 (GRCm39) |
N229S |
probably benign |
Het |
| Phc2 |
C |
T |
4: 128,616,903 (GRCm39) |
T392I |
probably benign |
Het |
| Ptprg |
G |
A |
14: 12,213,702 (GRCm38) |
W248* |
probably null |
Het |
| Pzp |
T |
A |
6: 128,498,087 (GRCm39) |
E243D |
probably benign |
Het |
| Rbm33 |
T |
A |
5: 28,592,846 (GRCm39) |
L542Q |
probably damaging |
Het |
| Recql4 |
G |
A |
15: 76,593,144 (GRCm39) |
T229I |
probably benign |
Het |
| Tfap2d |
A |
T |
1: 19,218,620 (GRCm39) |
Q373L |
probably damaging |
Het |
| Timmdc1 |
A |
G |
16: 38,338,902 (GRCm39) |
|
probably benign |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,820,209 (GRCm39) |
|
probably benign |
Het |
| Zfp551 |
A |
G |
7: 12,152,468 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ssbp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0179:Ssbp3
|
UTSW |
4 |
106,903,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1751:Ssbp3
|
UTSW |
4 |
106,904,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1767:Ssbp3
|
UTSW |
4 |
106,904,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4110:Ssbp3
|
UTSW |
4 |
106,904,393 (GRCm39) |
intron |
probably benign |
|
|
R5219:Ssbp3
|
UTSW |
4 |
106,904,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5906:Ssbp3
|
UTSW |
4 |
106,867,018 (GRCm39) |
intron |
probably benign |
|
|
R6288:Ssbp3
|
UTSW |
4 |
106,903,277 (GRCm39) |
splice site |
probably null |
|
|
R7174:Ssbp3
|
UTSW |
4 |
106,894,843 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9630:Ssbp3
|
UTSW |
4 |
106,895,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9781:Ssbp3
|
UTSW |
4 |
106,905,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ssbp3
|
UTSW |
4 |
106,894,828 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-11-18 |
Incidental Mutation