Incidental Mutation 'IGL01582:Spsb4'
| ID |
91385 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spsb4
|
| Ensembl Gene |
ENSMUSG00000046997 |
| Gene Name |
splA/ryanodine receptor domain and SOCS box containing 4 |
| Synonyms |
D030068E18Rik, Ssb4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.212)
|
| Stock # |
IGL01582
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
96825535-96900408 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 96878143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 60
(D60A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057849
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055433]
|
| AlphaFold |
Q8R5B6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055433
AA Change: D60A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057849
Gene: ENSMUSG00000046997
AA Change: D60A
| Domain | Start | End | E-Value | Type |
|---|
|
SPRY
|
95 |
230 |
5.67e-19 |
SMART |
|
SOCS_box
|
234 |
273 |
3.41e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000064445
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aurkb |
G |
A |
11: 68,939,605 (GRCm39) |
V201I |
probably damaging |
Het |
| Csmd2 |
G |
T |
4: 128,457,098 (GRCm39) |
E212* |
probably null |
Het |
| Dsg1a |
G |
T |
18: 20,461,905 (GRCm39) |
K335N |
probably null |
Het |
| Epn2 |
A |
G |
11: 61,412,695 (GRCm39) |
S430P |
probably benign |
Het |
| Ezh2 |
A |
T |
6: 47,532,989 (GRCm39) |
Y144* |
probably null |
Het |
| Fcgbp |
G |
T |
7: 27,793,067 (GRCm39) |
D1024Y |
probably benign |
Het |
| Gramd2b |
A |
G |
18: 56,618,488 (GRCm39) |
E232G |
probably damaging |
Het |
| Inf2 |
A |
G |
12: 112,576,993 (GRCm39) |
K989R |
unknown |
Het |
| Lrpprc |
G |
A |
17: 85,061,971 (GRCm39) |
A577V |
probably null |
Het |
| Mansc1 |
T |
A |
6: 134,598,836 (GRCm39) |
N27I |
possibly damaging |
Het |
| Nr1i3 |
A |
T |
1: 171,042,541 (GRCm39) |
I56F |
possibly damaging |
Het |
| Ntpcr |
T |
C |
8: 126,471,981 (GRCm39) |
S64P |
probably benign |
Het |
| Or52e19b |
A |
T |
7: 103,032,806 (GRCm39) |
Y134* |
probably null |
Het |
| Ppwd1 |
A |
G |
13: 104,350,212 (GRCm39) |
I391T |
probably benign |
Het |
| Serpinb3d |
A |
G |
1: 107,007,396 (GRCm39) |
F197L |
probably damaging |
Het |
| Siglecf |
A |
G |
7: 43,008,145 (GRCm39) |
N553D |
possibly damaging |
Het |
| Slc2a2 |
A |
G |
3: 28,762,637 (GRCm39) |
D60G |
probably benign |
Het |
| Speer1j |
A |
G |
5: 11,555,240 (GRCm39) |
T70A |
probably benign |
Het |
| Tnnt1 |
T |
C |
7: 4,512,982 (GRCm39) |
E100G |
probably damaging |
Het |
| Zmiz1 |
T |
C |
14: 25,658,654 (GRCm39) |
M938T |
probably benign |
Het |
|
| Other mutations in Spsb4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00436:Spsb4
|
APN |
9 |
96,826,646 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0320:Spsb4
|
UTSW |
9 |
96,878,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1664:Spsb4
|
UTSW |
9 |
96,878,266 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2495:Spsb4
|
UTSW |
9 |
96,877,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2872:Spsb4
|
UTSW |
9 |
96,878,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2872:Spsb4
|
UTSW |
9 |
96,878,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2874:Spsb4
|
UTSW |
9 |
96,878,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3758:Spsb4
|
UTSW |
9 |
96,877,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4604:Spsb4
|
UTSW |
9 |
96,877,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4678:Spsb4
|
UTSW |
9 |
96,877,744 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5532:Spsb4
|
UTSW |
9 |
96,877,627 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6157:Spsb4
|
UTSW |
9 |
96,878,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6368:Spsb4
|
UTSW |
9 |
96,826,698 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7787:Spsb4
|
UTSW |
9 |
96,877,643 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8495:Spsb4
|
UTSW |
9 |
96,877,622 (GRCm39) |
splice site |
probably null |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation