Incidental Mutation 'R4358:Spsb1'
| ID |
324651 |
| 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 |
041110-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R4358 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
149980740-150039494 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 149991232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 112
(H112R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119558
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038562]
[ENSMUST00000105684]
[ENSMUST00000105685]
[ENSMUST00000125135]
[ENSMUST00000149360]
[ENSMUST00000156897]
[ENSMUST00000167342]
[ENSMUST00000149743]
|
| AlphaFold |
Q9D5L7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038562
AA Change: H112R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048969
Gene: ENSMUSG00000039911
AA Change: H112R
| Domain | Start | End | E-Value | Type |
|---|
|
SPRY
|
95 |
230 |
4.93e-19 |
SMART |
|
SOCS_box
|
234 |
273 |
2.04e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105684
AA Change: H112R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101309
Gene: ENSMUSG00000039911
AA Change: H112R
| Domain | Start | End | E-Value | Type |
|---|
|
SPRY
|
95 |
230 |
4.93e-19 |
SMART |
|
SOCS_box
|
234 |
273 |
2.04e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105685
AA Change: H112R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101310
Gene: ENSMUSG00000039911
AA Change: H112R
| 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 damaging
Transcript: ENSMUST00000156897
AA Change: H112R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119558
Gene: ENSMUSG00000039911
AA Change: H112R
| 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: ENSMUST00000167342
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149743
|
| Meta Mutation Damage Score |
0.7283 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk1 |
C |
T |
3: 127,523,022 (GRCm39) |
V7M |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,926,663 (GRCm39) |
|
probably null |
Het |
| Chil3 |
G |
A |
3: 106,067,815 (GRCm39) |
Q117* |
probably null |
Het |
| Daglb |
T |
C |
5: 143,458,889 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
G |
A |
12: 118,089,578 (GRCm39) |
R1163* |
probably null |
Het |
| Ftsj3 |
G |
A |
11: 106,144,502 (GRCm39) |
A134V |
probably benign |
Het |
| G530012D18Rik |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
| Gfod2 |
T |
C |
8: 106,444,177 (GRCm39) |
N122S |
possibly damaging |
Het |
| Golga4 |
A |
G |
9: 118,380,946 (GRCm39) |
E507G |
probably benign |
Het |
| Ids |
C |
A |
X: 69,389,950 (GRCm39) |
G506C |
probably damaging |
Het |
| Ifna15 |
G |
T |
4: 88,476,079 (GRCm39) |
T135N |
probably benign |
Het |
| Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
| Kif24 |
A |
G |
4: 41,413,827 (GRCm39) |
|
probably null |
Het |
| L3hypdh |
A |
T |
12: 72,124,198 (GRCm39) |
D247E |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 26,860,489 (GRCm39) |
N2999K |
probably damaging |
Het |
| Lpcat2 |
C |
A |
8: 93,599,734 (GRCm39) |
P234Q |
probably benign |
Het |
| Lrp10 |
C |
T |
14: 54,705,823 (GRCm39) |
R338C |
probably damaging |
Het |
| Mcm9 |
A |
C |
10: 53,413,749 (GRCm39) |
C444G |
probably benign |
Het |
| Mecom |
G |
A |
3: 30,033,934 (GRCm39) |
Q246* |
probably null |
Het |
| Mib1 |
A |
G |
18: 10,751,844 (GRCm39) |
N242S |
probably benign |
Het |
| Or2a7 |
T |
A |
6: 43,151,160 (GRCm39) |
M80K |
probably damaging |
Het |
| Or8g26 |
G |
A |
9: 39,095,864 (GRCm39) |
C127Y |
probably damaging |
Het |
| P3h4 |
A |
G |
11: 100,304,452 (GRCm39) |
F263S |
probably damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,260,838 (GRCm39) |
S354P |
possibly damaging |
Het |
| Pms2 |
T |
A |
5: 143,862,744 (GRCm39) |
F617Y |
probably damaging |
Het |
| Prps2 |
T |
A |
X: 166,146,545 (GRCm39) |
K176* |
probably null |
Het |
| Psmd13 |
G |
T |
7: 140,469,418 (GRCm39) |
|
probably benign |
Het |
| Pygl |
G |
A |
12: 70,242,464 (GRCm39) |
S573L |
probably damaging |
Het |
| Rapgef3 |
A |
G |
15: 97,646,529 (GRCm39) |
V794A |
probably benign |
Het |
| Rasgrf2 |
C |
A |
13: 92,038,796 (GRCm39) |
D1017Y |
probably damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,315,861 (GRCm39) |
D555G |
probably damaging |
Het |
| Rptor |
G |
T |
11: 119,562,171 (GRCm39) |
E111D |
probably damaging |
Het |
| Sall4 |
T |
C |
2: 168,597,400 (GRCm39) |
E480G |
probably benign |
Het |
| Scn4a |
G |
A |
11: 106,239,683 (GRCm39) |
|
probably null |
Het |
| Scn8a |
G |
A |
15: 100,838,014 (GRCm39) |
A94T |
probably benign |
Het |
| Slc26a6 |
T |
A |
9: 108,738,982 (GRCm39) |
C636S |
probably benign |
Het |
| Slc38a11 |
T |
C |
2: 65,188,460 (GRCm39) |
K103R |
probably benign |
Het |
| Sned1 |
T |
C |
1: 93,202,381 (GRCm39) |
L675P |
probably benign |
Het |
| Tmem132d |
G |
A |
5: 128,061,405 (GRCm39) |
T399M |
possibly damaging |
Het |
| Zfp939 |
A |
G |
7: 39,123,144 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp951 |
T |
C |
5: 104,962,541 (GRCm39) |
K342E |
probably 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 |
|
|
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 |
|
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'- AGGTCCCATCATCCATGTCC -3'
(R):5'- TCCTGGAACAATAACGACCG -3'
Sequencing Primer
(F):5'- ACAATGAATGTCTCGTCCGG -3'
(R):5'- TGGAACAATAACGACCGTTCGC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation