Incidental Mutation 'R6304:Spsb1'
| ID |
509193 |
| 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 |
044380-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R6304 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
149980740-150039494 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 149991188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 127
(V127I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119558
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038562]
[ENSMUST00000105684]
[ENSMUST00000105685]
[ENSMUST00000125135]
[ENSMUST00000149360]
[ENSMUST00000156897]
[ENSMUST00000149743]
[ENSMUST00000167342]
|
| AlphaFold |
Q9D5L7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038562
AA Change: V127I
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000048969
Gene: ENSMUSG00000039911
AA Change: V127I
| 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: V127I
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000101309
Gene: ENSMUSG00000039911
AA Change: V127I
| 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: V127I
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000101310
Gene: ENSMUSG00000039911
AA Change: V127I
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135896
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146532
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149360
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156897
AA Change: V127I
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000119558
Gene: ENSMUSG00000039911
AA Change: V127I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SPRY
|
95 |
201 |
5.8e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156451
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149743
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167342
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol9b |
T |
A |
15: 77,619,504 (GRCm39) |
V100E |
probably damaging |
Het |
| Bin3 |
A |
G |
14: 70,374,625 (GRCm39) |
D218G |
possibly damaging |
Het |
| Cbll1 |
A |
G |
12: 31,544,588 (GRCm39) |
|
probably null |
Het |
| Cped1 |
A |
T |
6: 22,016,922 (GRCm39) |
R90S |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,108,688 (GRCm39) |
L1905Q |
probably damaging |
Het |
| Dnai4 |
T |
C |
4: 102,944,553 (GRCm39) |
E266G |
probably benign |
Het |
| Elapor1 |
A |
C |
3: 108,368,572 (GRCm39) |
C806W |
probably damaging |
Het |
| Etaa1 |
A |
C |
11: 17,897,505 (GRCm39) |
M204R |
probably damaging |
Het |
| G6pc1 |
A |
G |
11: 101,258,735 (GRCm39) |
D38G |
probably damaging |
Het |
| Gramd4 |
A |
G |
15: 86,019,120 (GRCm39) |
E596G |
possibly damaging |
Het |
| Ifna5 |
T |
C |
4: 88,754,147 (GRCm39) |
V129A |
probably benign |
Het |
| Igsf9b |
C |
T |
9: 27,253,871 (GRCm39) |
R1354W |
probably benign |
Het |
| Kcnh3 |
T |
C |
15: 99,124,919 (GRCm39) |
V123A |
probably benign |
Het |
| Kcnh7 |
A |
T |
2: 62,594,960 (GRCm39) |
Y703* |
probably null |
Het |
| Kdm2b |
A |
G |
5: 123,019,807 (GRCm39) |
S260P |
probably benign |
Het |
| Kdm6b |
G |
T |
11: 69,295,084 (GRCm39) |
T1061K |
unknown |
Het |
| Lingo4 |
G |
A |
3: 94,310,513 (GRCm39) |
G484R |
probably damaging |
Het |
| Lpar1 |
T |
C |
4: 58,487,013 (GRCm39) |
Y86C |
probably damaging |
Het |
| Lrrc10b |
T |
C |
19: 10,434,342 (GRCm39) |
Q113R |
probably benign |
Het |
| Lrrc8c |
A |
T |
5: 105,756,475 (GRCm39) |
N750I |
probably benign |
Het |
| Miip |
T |
C |
4: 147,947,540 (GRCm39) |
M207V |
probably benign |
Het |
| Mtcl2 |
T |
C |
2: 156,882,684 (GRCm39) |
N456S |
possibly damaging |
Het |
| Mup4 |
T |
C |
4: 59,960,084 (GRCm39) |
H60R |
possibly damaging |
Het |
| Naip5 |
C |
T |
13: 100,359,674 (GRCm39) |
A521T |
possibly damaging |
Het |
| Nrp2 |
T |
C |
1: 62,784,565 (GRCm39) |
L238P |
probably damaging |
Het |
| Nup155 |
T |
C |
15: 8,147,526 (GRCm39) |
S262P |
probably damaging |
Het |
| Or51k1 |
G |
A |
7: 103,661,238 (GRCm39) |
L224F |
probably damaging |
Het |
| Osbpl3 |
A |
G |
6: 50,289,654 (GRCm39) |
S604P |
probably damaging |
Het |
| Pcdhb6 |
C |
T |
18: 37,468,974 (GRCm39) |
R632* |
probably null |
Het |
| Pcdhb9 |
T |
A |
18: 37,534,420 (GRCm39) |
V138E |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,727,907 (GRCm39) |
|
probably benign |
Het |
| Phyhipl |
A |
G |
10: 70,395,387 (GRCm39) |
|
probably null |
Het |
| Plcg1 |
A |
G |
2: 160,603,383 (GRCm39) |
T1185A |
possibly damaging |
Het |
| Pomt1 |
T |
A |
2: 32,140,802 (GRCm39) |
L478Q |
probably damaging |
Het |
| Robo2 |
T |
A |
16: 73,755,196 (GRCm39) |
Y779F |
probably damaging |
Het |
| Sesn3 |
A |
T |
9: 14,233,857 (GRCm39) |
|
probably null |
Het |
| Sh3gl1 |
A |
T |
17: 56,343,431 (GRCm39) |
F10Y |
probably benign |
Het |
| Spata31h1 |
T |
A |
10: 82,126,202 (GRCm39) |
K2269N |
possibly damaging |
Het |
| Taf4b |
T |
C |
18: 14,940,412 (GRCm39) |
I297T |
probably damaging |
Het |
| Trim14 |
C |
A |
4: 46,522,118 (GRCm39) |
M186I |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,746,079 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,721,443 (GRCm39) |
|
probably benign |
Het |
| Usp54 |
T |
C |
14: 20,611,036 (GRCm39) |
D1260G |
possibly damaging |
Het |
| Vmn1r3 |
T |
A |
4: 3,184,975 (GRCm39) |
T111S |
probably damaging |
Het |
| Vmn2r51 |
T |
C |
7: 9,832,164 (GRCm39) |
Q474R |
probably benign |
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 |
|
|
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 |
|
|
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'- TAAGGTCCCATCATCCATGTCC -3'
(R):5'- TCCTGGAACAATAACGACCG -3'
Sequencing Primer
(F):5'- ATCATCCATGTCCAGGGCC -3'
(R):5'- TGGAACAATAACGACCGTTCGC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation