Incidental Mutation 'IGL00771:Spsb1'
ID |
14229 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Spsb1
|
Ensembl Gene |
ENSMUSG00000039911 |
Gene Name |
splA/ryanodine receptor domain and SOCS box containing 1 |
Synonyms |
SSB1, 1110014L01Rik, 4930422J18Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
IGL00771
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
149980740-150039494 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
C to T
at 149991564 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 1
(M1I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119558
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038562]
[ENSMUST00000105684]
[ENSMUST00000105685]
[ENSMUST00000125135]
[ENSMUST00000149360]
[ENSMUST00000149743]
[ENSMUST00000156897]
[ENSMUST00000167342]
|
AlphaFold |
Q9D5L7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000038562
AA Change: M1I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000048969 Gene: ENSMUSG00000039911 AA Change: M1I
Domain | Start | End | E-Value | Type |
SPRY
|
95 |
230 |
4.93e-19 |
SMART |
SOCS_box
|
234 |
273 |
2.04e-11 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000105684
AA Change: M1I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101309 Gene: ENSMUSG00000039911 AA Change: M1I
Domain | Start | End | E-Value | Type |
SPRY
|
95 |
230 |
4.93e-19 |
SMART |
SOCS_box
|
234 |
273 |
2.04e-11 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000105685
AA Change: M1I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101310 Gene: ENSMUSG00000039911 AA Change: M1I
Domain | Start | End | E-Value | Type |
SPRY
|
95 |
230 |
4.93e-19 |
SMART |
SOCS_box
|
234 |
273 |
2.04e-11 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000125135
AA Change: M1I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135896
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146532
|
Predicted Effect |
probably null
Transcript: ENSMUST00000149360
AA Change: M1I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000149743
AA Change: M1I
|
Predicted Effect |
probably null
Transcript: ENSMUST00000156897
AA Change: M1I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119558 Gene: ENSMUSG00000039911 AA Change: M1I
Domain | Start | End | E-Value | Type |
Pfam:SPRY
|
95 |
201 |
5.8e-13 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000167342
AA Change: M1I
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156451
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9830107B12Rik |
A |
G |
17: 48,452,855 (GRCm39) |
L28S |
possibly damaging |
Het |
Abca13 |
T |
A |
11: 9,240,870 (GRCm39) |
L911Q |
probably damaging |
Het |
Armc9 |
C |
A |
1: 86,127,557 (GRCm39) |
|
probably null |
Het |
Asxl2 |
A |
G |
12: 3,524,560 (GRCm39) |
H196R |
probably damaging |
Het |
Atm |
T |
C |
9: 53,404,354 (GRCm39) |
D1329G |
probably benign |
Het |
Cds2 |
T |
C |
2: 132,146,272 (GRCm39) |
|
probably benign |
Het |
Cep295 |
A |
T |
9: 15,233,861 (GRCm39) |
C2184S |
probably damaging |
Het |
Cpeb2 |
T |
C |
5: 43,394,890 (GRCm39) |
F623L |
possibly damaging |
Het |
Dmd |
G |
A |
X: 82,951,978 (GRCm39) |
|
probably null |
Het |
F11r |
T |
A |
1: 171,290,510 (GRCm39) |
|
probably null |
Het |
Gbp3 |
C |
T |
3: 142,271,005 (GRCm39) |
|
probably benign |
Het |
Gpc4 |
A |
G |
X: 51,163,527 (GRCm39) |
S119P |
possibly damaging |
Het |
H2-M10.2 |
A |
G |
17: 36,597,288 (GRCm39) |
L9P |
probably damaging |
Het |
Ica1l |
T |
C |
1: 60,053,106 (GRCm39) |
D144G |
probably damaging |
Het |
Jaml |
A |
G |
9: 45,005,105 (GRCm39) |
K124E |
possibly damaging |
Het |
Lamc2 |
T |
C |
1: 153,005,802 (GRCm39) |
N950S |
probably benign |
Het |
Ltbp1 |
A |
T |
17: 75,669,511 (GRCm39) |
D1099V |
probably damaging |
Het |
Mlxipl |
C |
T |
5: 135,161,632 (GRCm39) |
T517I |
probably damaging |
Het |
Nbeal1 |
C |
T |
1: 60,274,512 (GRCm39) |
R308C |
probably benign |
Het |
Nlrp1a |
A |
T |
11: 71,013,567 (GRCm39) |
L561* |
probably null |
Het |
Prom1 |
A |
T |
5: 44,187,118 (GRCm39) |
|
probably benign |
Het |
Ptprc |
T |
A |
1: 138,041,415 (GRCm39) |
E148V |
probably benign |
Het |
Rap1gap |
T |
C |
4: 137,443,835 (GRCm39) |
V224A |
probably damaging |
Het |
Slc7a6 |
T |
C |
8: 106,905,872 (GRCm39) |
S35P |
probably benign |
Het |
Snx17 |
C |
T |
5: 31,354,679 (GRCm39) |
R314C |
probably damaging |
Het |
Spats2l |
T |
C |
1: 57,982,231 (GRCm39) |
L371P |
probably damaging |
Het |
Sv2a |
G |
A |
3: 96,100,600 (GRCm39) |
V661I |
probably benign |
Het |
Taar7b |
T |
A |
10: 23,876,096 (GRCm39) |
V87E |
probably benign |
Het |
Tcf7l2 |
G |
A |
19: 55,905,853 (GRCm39) |
V292I |
probably damaging |
Het |
Teddm1b |
T |
A |
1: 153,750,340 (GRCm39) |
C50S |
possibly damaging |
Het |
Trmt10a |
A |
G |
3: 137,856,216 (GRCm39) |
D159G |
probably benign |
Het |
Urod |
T |
C |
4: 116,847,581 (GRCm39) |
N336S |
probably damaging |
Het |
Usp8 |
A |
G |
2: 126,567,353 (GRCm39) |
|
probably null |
Het |
Zfp182 |
A |
G |
X: 20,896,896 (GRCm39) |
Y467H |
probably damaging |
Het |
|
Other mutations in Spsb1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
LCD18:Spsb1
|
UTSW |
4 |
150,036,943 (GRCm39) |
intron |
probably benign |
|
R0200:Spsb1
|
UTSW |
4 |
149,982,673 (GRCm39) |
makesense |
probably null |
|
R0681:Spsb1
|
UTSW |
4 |
149,991,374 (GRCm39) |
missense |
probably benign |
|
R0733:Spsb1
|
UTSW |
4 |
149,991,374 (GRCm39) |
missense |
probably benign |
|
R0894:Spsb1
|
UTSW |
4 |
149,990,872 (GRCm39) |
critical splice donor site |
probably null |
|
R0947:Spsb1
|
UTSW |
4 |
149,991,536 (GRCm39) |
missense |
probably benign |
0.00 |
R1840:Spsb1
|
UTSW |
4 |
149,991,088 (GRCm39) |
missense |
probably damaging |
0.99 |
R1845:Spsb1
|
UTSW |
4 |
149,991,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R4356:Spsb1
|
UTSW |
4 |
149,991,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R4357:Spsb1
|
UTSW |
4 |
149,991,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R4358:Spsb1
|
UTSW |
4 |
149,991,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R4359:Spsb1
|
UTSW |
4 |
149,991,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R4656:Spsb1
|
UTSW |
4 |
149,990,867 (GRCm39) |
splice site |
probably null |
|
R4970:Spsb1
|
UTSW |
4 |
149,991,612 (GRCm39) |
start gained |
probably benign |
|
R6304:Spsb1
|
UTSW |
4 |
149,991,188 (GRCm39) |
missense |
probably benign |
0.30 |
R6767:Spsb1
|
UTSW |
4 |
149,991,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R7502:Spsb1
|
UTSW |
4 |
149,991,385 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7615:Spsb1
|
UTSW |
4 |
149,991,357 (GRCm39) |
missense |
probably benign |
|
R7944:Spsb1
|
UTSW |
4 |
149,990,903 (GRCm39) |
missense |
probably benign |
0.00 |
R7974:Spsb1
|
UTSW |
4 |
149,991,566 (GRCm39) |
start codon destroyed |
probably damaging |
1.00 |
R8945:Spsb1
|
UTSW |
4 |
149,991,475 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9461:Spsb1
|
UTSW |
4 |
149,990,907 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2012-12-06 |