Incidental Mutation 'R4359:Spsb1'
| ID |
324792 |
| 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 |
041670-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R4359 (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 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: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
T |
11: 9,247,629 (GRCm39) |
V2459F |
probably benign |
Het |
| Acot1 |
T |
C |
12: 84,061,314 (GRCm39) |
Y207H |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,465,476 (GRCm39) |
V1668A |
possibly damaging |
Het |
| Atr |
T |
A |
9: 95,833,589 (GRCm39) |
I2613N |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,731,957 (GRCm39) |
I2027T |
possibly damaging |
Het |
| C2cd3 |
T |
G |
7: 100,090,296 (GRCm39) |
H466Q |
probably damaging |
Het |
| Cdc14b |
T |
A |
13: 64,396,225 (GRCm39) |
I15F |
probably benign |
Het |
| Cep135 |
G |
T |
5: 76,759,561 (GRCm39) |
K438N |
possibly damaging |
Het |
| Cnot1 |
T |
C |
8: 96,466,476 (GRCm39) |
D1587G |
probably damaging |
Het |
| Cxcl16 |
C |
A |
11: 70,349,631 (GRCm39) |
V65L |
possibly damaging |
Het |
| Dhx36 |
T |
A |
3: 62,382,699 (GRCm39) |
T783S |
probably benign |
Het |
| Disp3 |
T |
C |
4: 148,356,389 (GRCm39) |
N157S |
probably benign |
Het |
| Efcab3 |
G |
T |
11: 104,624,547 (GRCm39) |
|
probably null |
Het |
| Fem1al |
A |
T |
11: 29,774,669 (GRCm39) |
S263T |
probably benign |
Het |
| Gfod2 |
T |
C |
8: 106,444,177 (GRCm39) |
N122S |
possibly damaging |
Het |
| Grin3b |
T |
A |
10: 79,808,731 (GRCm39) |
D160E |
probably benign |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Htr1b |
C |
A |
9: 81,514,404 (GRCm39) |
A68S |
probably benign |
Het |
| Ifit2 |
A |
T |
19: 34,550,544 (GRCm39) |
D28V |
possibly 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 |
| Klhl25 |
T |
C |
7: 75,516,480 (GRCm39) |
V462A |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| L3mbtl3 |
A |
G |
10: 26,203,639 (GRCm39) |
V397A |
unknown |
Het |
| Lpcat2 |
C |
A |
8: 93,599,734 (GRCm39) |
P234Q |
probably benign |
Het |
| Lrp1b |
A |
C |
2: 40,793,077 (GRCm39) |
C2532W |
probably damaging |
Het |
| Malt1 |
T |
C |
18: 65,609,300 (GRCm39) |
V768A |
probably benign |
Het |
| Mindy3 |
A |
T |
2: 12,401,020 (GRCm39) |
W233R |
probably damaging |
Het |
| Ncor1 |
T |
C |
11: 62,249,736 (GRCm39) |
K1054R |
probably damaging |
Het |
| Nin |
T |
A |
12: 70,061,712 (GRCm39) |
T2051S |
probably benign |
Het |
| Or10j5 |
C |
A |
1: 172,784,647 (GRCm39) |
A95E |
probably benign |
Het |
| Or51ac3 |
A |
G |
7: 103,213,742 (GRCm39) |
F248S |
probably benign |
Het |
| Pcsk1 |
T |
C |
13: 75,260,838 (GRCm39) |
S354P |
possibly damaging |
Het |
| Pilra |
T |
C |
5: 137,829,576 (GRCm39) |
T160A |
probably benign |
Het |
| Plekha5 |
G |
C |
6: 140,537,414 (GRCm39) |
E540D |
probably benign |
Het |
| Prps2 |
T |
A |
X: 166,146,545 (GRCm39) |
K176* |
probably null |
Het |
| Rasgrf2 |
C |
A |
13: 92,038,796 (GRCm39) |
D1017Y |
probably damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Srd5a3 |
T |
A |
5: 76,295,547 (GRCm39) |
F79Y |
probably damaging |
Het |
| Stxbp4 |
C |
T |
11: 90,385,470 (GRCm39) |
W506* |
probably null |
Het |
| Timeless |
C |
A |
10: 128,083,211 (GRCm39) |
Q653K |
probably benign |
Het |
| Trio |
G |
A |
15: 27,749,883 (GRCm39) |
Q1129* |
probably null |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Zzef1 |
T |
A |
11: 72,714,334 (GRCm39) |
S275T |
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 |
|
R4358: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'- AGGTCCCATCATCCATGTCCAG -3'
(R):5'- TCCTGGAACAATAACGACCG -3'
Sequencing Primer
(F):5'- ACAATGAATGTCTCGTCCGG -3'
(R):5'- TGGAACAATAACGACCGTTCGC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation