Incidental Mutation 'R0947:Spsb1'
ID |
81656 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spsb1
|
Ensembl Gene |
ENSMUSG00000039911 |
Gene Name |
splA/ryanodine receptor domain and SOCS box containing 1 |
Synonyms |
SSB1, 1110014L01Rik, 4930422J18Rik |
MMRRC Submission |
039086-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R0947 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
149980740-150039494 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 149991536 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 11
(T11A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119558
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038562]
[ENSMUST00000105684]
[ENSMUST00000105685]
[ENSMUST00000125135]
[ENSMUST00000149360]
[ENSMUST00000149743]
[ENSMUST00000167342]
[ENSMUST00000156897]
|
AlphaFold |
Q9D5L7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038562
AA Change: T11A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000048969 Gene: ENSMUSG00000039911 AA Change: T11A
Domain | Start | End | E-Value | Type |
SPRY
|
95 |
230 |
4.93e-19 |
SMART |
SOCS_box
|
234 |
273 |
2.04e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105684
AA Change: T11A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000101309 Gene: ENSMUSG00000039911 AA Change: T11A
Domain | Start | End | E-Value | Type |
SPRY
|
95 |
230 |
4.93e-19 |
SMART |
SOCS_box
|
234 |
273 |
2.04e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105685
AA Change: T11A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000101310 Gene: ENSMUSG00000039911 AA Change: T11A
Domain | Start | End | E-Value | Type |
SPRY
|
95 |
230 |
4.93e-19 |
SMART |
SOCS_box
|
234 |
273 |
2.04e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125135
AA Change: T11A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135896
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146532
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149360
AA Change: T11A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000149743
AA Change: T11A
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167342
AA Change: T11A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156897
AA Change: T11A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000119558 Gene: ENSMUSG00000039911 AA Change: T11A
Domain | Start | End | E-Value | Type |
Pfam:SPRY
|
95 |
201 |
5.8e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156451
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.2%
- 10x: 95.4%
- 20x: 89.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh7a1 |
A |
T |
18: 56,693,910 (GRCm39) |
|
probably null |
Het |
Atm |
A |
G |
9: 53,415,392 (GRCm39) |
V833A |
probably benign |
Het |
Atp6v1b1 |
A |
T |
6: 83,730,814 (GRCm39) |
I180F |
probably damaging |
Het |
Cwf19l2 |
T |
C |
9: 3,421,286 (GRCm39) |
S188P |
probably benign |
Het |
Gdpd1 |
T |
G |
11: 86,928,707 (GRCm39) |
E240D |
probably benign |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Htt |
T |
C |
5: 35,056,268 (GRCm39) |
S2681P |
probably damaging |
Het |
Itgad |
A |
G |
7: 127,774,865 (GRCm39) |
D40G |
probably benign |
Het |
Krt18 |
A |
G |
15: 101,939,163 (GRCm39) |
Y249C |
possibly damaging |
Het |
Lrp2 |
G |
T |
2: 69,318,182 (GRCm39) |
P2090T |
probably damaging |
Het |
Lrrc32 |
A |
G |
7: 98,148,090 (GRCm39) |
D290G |
probably benign |
Het |
Man1a |
A |
T |
10: 53,809,619 (GRCm39) |
Y486* |
probably null |
Het |
Mcm9 |
CCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCC |
CCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCC |
10: 53,413,597 (GRCm39) |
|
probably benign |
Het |
Nin |
A |
T |
12: 70,107,960 (GRCm39) |
C211S |
probably damaging |
Het |
Npat |
A |
C |
9: 53,481,624 (GRCm39) |
I1111L |
probably benign |
Het |
Or5p79 |
A |
G |
7: 108,221,879 (GRCm39) |
I287V |
probably benign |
Het |
Or9i1b |
T |
A |
19: 13,896,535 (GRCm39) |
H50Q |
probably benign |
Het |
Pbx1 |
A |
G |
1: 168,030,935 (GRCm39) |
S228P |
probably damaging |
Het |
Pcsk7 |
G |
T |
9: 45,822,470 (GRCm39) |
R230L |
probably damaging |
Het |
Prom2 |
G |
T |
2: 127,380,183 (GRCm39) |
Q350K |
possibly damaging |
Het |
Racgap1 |
C |
T |
15: 99,522,195 (GRCm39) |
A458T |
possibly damaging |
Het |
Rsf1 |
T |
A |
7: 97,318,985 (GRCm39) |
C912S |
probably damaging |
Het |
Setd2 |
G |
A |
9: 110,377,579 (GRCm39) |
E465K |
possibly damaging |
Het |
Sgk2 |
T |
A |
2: 162,848,758 (GRCm39) |
D269E |
probably benign |
Het |
Tln2 |
A |
T |
9: 67,203,095 (GRCm39) |
S509T |
probably benign |
Het |
Trim5 |
A |
T |
7: 103,914,958 (GRCm39) |
D370E |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,715,574 (GRCm39) |
|
probably benign |
Het |
Ubr2 |
C |
A |
17: 47,252,038 (GRCm39) |
G1501C |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Vmn2r93 |
A |
T |
17: 18,524,343 (GRCm39) |
R112S |
probably benign |
Het |
Vps26b |
T |
C |
9: 26,924,077 (GRCm39) |
Y222C |
probably damaging |
Het |
Wdr64 |
T |
A |
1: 175,603,315 (GRCm39) |
Y198N |
probably benign |
Het |
Xrn1 |
A |
T |
9: 95,880,316 (GRCm39) |
K752I |
possibly damaging |
Het |
Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
Zfp386 |
T |
C |
12: 116,023,398 (GRCm39) |
I372T |
probably benign |
Het |
Zfp804a |
T |
C |
2: 82,089,062 (GRCm39) |
Y964H |
possibly damaging |
Het |
|
Other mutations in Spsb1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00771:Spsb1
|
APN |
4 |
149,991,564 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTGTACCCAACTTTGCCCCTGATG -3'
(R):5'- GACCTTTGGAGATCGCCTAGCAAC -3'
Sequencing Primer
(F):5'- CCGGTGAAAGATCAACTTGTC -3'
(R):5'- GCCTAGCAACCTCCCTTAG -3'
|
Posted On |
2013-11-08 |