Incidental Mutation 'IGL03268:Spsb2'
| ID |
415176 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spsb2
|
| Ensembl Gene |
ENSMUSG00000038451 |
| Gene Name |
splA/ryanodine receptor domain and SOCS box containing 2 |
| Synonyms |
Grcc9, SSB2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.256)
|
| Stock # |
IGL03268
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
124785640-124787582 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 124786450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 61
(E61G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118347
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047760]
[ENSMUST00000052727]
[ENSMUST00000112473]
[ENSMUST00000130160]
[ENSMUST00000143040]
[ENSMUST00000172132]
[ENSMUST00000149610]
|
| AlphaFold |
O88838 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047760
AA Change: E61G
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000041585
Gene: ENSMUSG00000038451
AA Change: E61G
| Domain | Start | End | E-Value | Type |
|---|
|
SPRY
|
86 |
220 |
9.85e-28 |
SMART |
|
SOCS
|
219 |
264 |
7.93e-13 |
SMART |
|
SOCS_box
|
225 |
264 |
8.27e-12 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052727
AA Change: E61G
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000060124
Gene: ENSMUSG00000038451
AA Change: E61G
| Domain | Start | End | E-Value | Type |
|---|
|
SPRY
|
86 |
220 |
9.85e-28 |
SMART |
|
SOCS
|
219 |
264 |
7.93e-13 |
SMART |
|
SOCS_box
|
225 |
264 |
8.27e-12 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112473
AA Change: E61G
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108092
Gene: ENSMUSG00000038451
AA Change: E61G
| Domain | Start | End | E-Value | Type |
|---|
|
SPRY
|
86 |
220 |
9.85e-28 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130160
AA Change: E61G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122149
Gene: ENSMUSG00000038451
AA Change: E61G
| Domain | Start | End | E-Value | Type |
|---|
|
SPRY
|
86 |
208 |
1.1e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133251
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139716
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143040
AA Change: E61G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118347
Gene: ENSMUSG00000038451
AA Change: E61G
| Domain | Start | End | E-Value | Type |
|---|
|
SPRY
|
86 |
220 |
9.85e-28 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204602
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154883
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172132
|
| SMART Domains |
Protein: ENSMUSP00000130858
Gene: ENSMUSG00000023456
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TIM
|
57 |
295 |
9.2e-86 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149610
|
| SMART Domains |
Protein: ENSMUSP00000125292
Gene: ENSMUSG00000023456
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TIM
|
1 |
163 |
1.1e-65 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the SSB family of proteins that contain a central SPRY (repeats in splA and ryanodine receptors) domain and a C-terminal SOCS (suppressor of cytokine signaling) box. The encoded protein is an adaptor protein in the E3 ubiquitin ligase complex that ubiquitinates inducible nitric oxide synthase and targets it for proteasomal degradation. Mice lacking the encoded protein exhibit lower blood urea nitrogen levels and mild thrombocytopenia due to reduced platelet production. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous null mice exhibit mild thrombocytopenia and decreased blood urea nitrogen levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500002C15Rik |
G |
T |
4: 155,818,648 (GRCm39) |
|
probably benign |
Het |
| Acvrl1 |
A |
T |
15: 101,033,803 (GRCm39) |
I162F |
possibly damaging |
Het |
| Adprhl1 |
A |
G |
8: 13,296,170 (GRCm39) |
|
probably benign |
Het |
| Anapc7 |
G |
A |
5: 122,567,669 (GRCm39) |
|
probably null |
Het |
| Ankrd13a |
T |
C |
5: 114,930,296 (GRCm39) |
L227P |
probably damaging |
Het |
| Anxa5 |
T |
C |
3: 36,504,828 (GRCm39) |
I245V |
probably benign |
Het |
| Arf1 |
A |
T |
11: 59,103,663 (GRCm39) |
V123E |
possibly damaging |
Het |
| Catsperg1 |
G |
A |
7: 28,899,668 (GRCm39) |
R338C |
probably damaging |
Het |
| Cc2d1a |
A |
C |
8: 84,860,154 (GRCm39) |
L855R |
probably damaging |
Het |
| Cdh18 |
G |
A |
15: 23,366,953 (GRCm39) |
A220T |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,829,295 (GRCm39) |
H203R |
probably benign |
Het |
| Cep78 |
G |
T |
19: 15,951,806 (GRCm39) |
S333* |
probably null |
Het |
| Chrna2 |
T |
A |
14: 66,388,395 (GRCm39) |
|
probably benign |
Het |
| Dact1 |
T |
C |
12: 71,364,257 (GRCm39) |
V346A |
probably damaging |
Het |
| Dcn |
A |
G |
10: 97,319,240 (GRCm39) |
I6V |
probably benign |
Het |
| Dlg3 |
A |
G |
X: 99,853,493 (GRCm39) |
Y600C |
probably damaging |
Het |
| Dmd |
A |
G |
X: 82,849,814 (GRCm39) |
E1084G |
probably damaging |
Het |
| Epb41 |
A |
C |
4: 131,655,806 (GRCm39) |
D825E |
probably damaging |
Het |
| Galc |
T |
A |
12: 98,188,852 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,648,261 (GRCm39) |
D675V |
probably damaging |
Het |
| Igkv2-137 |
A |
G |
6: 67,533,092 (GRCm39) |
D85G |
probably benign |
Het |
| Kxd1 |
A |
G |
8: 70,961,136 (GRCm39) |
I78T |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 27,298,649 (GRCm39) |
I149N |
probably damaging |
Het |
| Mbnl2 |
G |
T |
14: 120,616,569 (GRCm39) |
C61F |
probably damaging |
Het |
| Mcts1 |
T |
C |
X: 37,690,859 (GRCm39) |
I22T |
possibly damaging |
Het |
| Or4k15b |
T |
C |
14: 50,272,024 (GRCm39) |
T279A |
probably damaging |
Het |
| Or52e3 |
T |
G |
7: 102,869,848 (GRCm39) |
F308V |
probably benign |
Het |
| Pde12 |
T |
A |
14: 26,389,614 (GRCm39) |
E365V |
probably benign |
Het |
| Prl8a2 |
A |
G |
13: 27,537,938 (GRCm39) |
K204R |
probably benign |
Het |
| Rnf25 |
A |
T |
1: 74,638,217 (GRCm39) |
|
probably benign |
Het |
| Rragb |
A |
G |
X: 151,923,493 (GRCm39) |
D5G |
unknown |
Het |
| Rsrc2 |
T |
A |
5: 123,878,790 (GRCm39) |
K56* |
probably null |
Het |
| Scn5a |
T |
C |
9: 119,350,297 (GRCm39) |
Q859R |
probably damaging |
Het |
| Septin4 |
G |
A |
11: 87,480,529 (GRCm39) |
V388M |
probably damaging |
Het |
| Slc29a2 |
C |
T |
19: 5,074,531 (GRCm39) |
|
probably benign |
Het |
| Slc30a5 |
G |
A |
13: 100,943,211 (GRCm39) |
T549I |
probably damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,365,554 (GRCm39) |
T462A |
probably benign |
Het |
| Srr |
A |
G |
11: 74,803,943 (GRCm39) |
Y5H |
probably benign |
Het |
| Suclg2 |
T |
C |
6: 95,546,573 (GRCm39) |
D301G |
probably damaging |
Het |
| Syt14 |
A |
G |
1: 192,669,142 (GRCm39) |
V37A |
probably benign |
Het |
| Syt9 |
A |
G |
7: 107,035,612 (GRCm39) |
N210D |
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,688,558 (GRCm39) |
D2343G |
probably damaging |
Het |
| Tma7 |
A |
G |
9: 108,907,450 (GRCm39) |
|
probably benign |
Het |
| Tor3a |
T |
C |
1: 156,497,020 (GRCm39) |
D175G |
probably damaging |
Het |
| Tpo |
G |
T |
12: 30,144,964 (GRCm39) |
A595D |
possibly damaging |
Het |
| Tpst2 |
T |
C |
5: 112,456,091 (GRCm39) |
V210A |
probably damaging |
Het |
| Uchl1 |
A |
T |
5: 66,839,824 (GRCm39) |
E122V |
probably benign |
Het |
| Vmn1r210 |
A |
T |
13: 23,011,405 (GRCm39) |
F294I |
probably benign |
Het |
|
| Other mutations in Spsb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
BB004:Spsb2
|
UTSW |
6 |
124,786,336 (GRCm39) |
missense |
probably benign |
0.07 |
|
BB014:Spsb2
|
UTSW |
6 |
124,786,336 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0557:Spsb2
|
UTSW |
6 |
124,787,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1752:Spsb2
|
UTSW |
6 |
124,787,292 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1993:Spsb2
|
UTSW |
6 |
124,786,329 (GRCm39) |
splice site |
probably null |
|
|
R1994:Spsb2
|
UTSW |
6 |
124,786,329 (GRCm39) |
splice site |
probably null |
|
|
R2010:Spsb2
|
UTSW |
6 |
124,787,339 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3764:Spsb2
|
UTSW |
6 |
124,786,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4914:Spsb2
|
UTSW |
6 |
124,786,711 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4918:Spsb2
|
UTSW |
6 |
124,786,711 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5983:Spsb2
|
UTSW |
6 |
124,786,711 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7107:Spsb2
|
UTSW |
6 |
124,787,244 (GRCm39) |
missense |
probably benign |
|
|
R7732:Spsb2
|
UTSW |
6 |
124,786,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7927:Spsb2
|
UTSW |
6 |
124,786,336 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9047:Spsb2
|
UTSW |
6 |
124,786,976 (GRCm39) |
missense |
probably benign |
|
|
R9418:Spsb2
|
UTSW |
6 |
124,786,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation