Incidental Mutation 'R2378:Spsb3'
| ID |
248363 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spsb3
|
| Ensembl Gene |
ENSMUSG00000024160 |
| Gene Name |
splA/ryanodine receptor domain and SOCS box containing 3 |
| Synonyms |
3300001M01Rik, SSB3, 2310012N15Rik, Tce1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R2378 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
25105617-25111126 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 25105924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117226
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024976]
[ENSMUST00000044252]
[ENSMUST00000050714]
[ENSMUST00000068508]
[ENSMUST00000117890]
[ENSMUST00000119829]
[ENSMUST00000119848]
[ENSMUST00000168265]
[ENSMUST00000120943]
[ENSMUST00000130194]
[ENSMUST00000144430]
|
| AlphaFold |
Q571F5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024976
|
| SMART Domains |
Protein: ENSMUSP00000024976
Gene: ENSMUSG00000024160
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
144 |
N/A |
INTRINSIC |
|
Pfam:SPRY
|
181 |
304 |
5.7e-18 |
PFAM |
|
SOCS_box
|
309 |
347 |
2.8e0 |
SMART |
|
low complexity region
|
364 |
373 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044252
|
| SMART Domains |
Protein: ENSMUSP00000049319
Gene: ENSMUSG00000039183
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ParA
|
16 |
267 |
3.2e-99 |
PFAM |
|
Pfam:ArsA_ATPase
|
19 |
66 |
1.7e-8 |
PFAM |
|
Pfam:AAA_31
|
19 |
79 |
1.5e-8 |
PFAM |
|
Pfam:MipZ
|
19 |
155 |
2.1e-10 |
PFAM |
|
Pfam:CbiA
|
21 |
199 |
2.2e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050714
|
| SMART Domains |
Protein: ENSMUSP00000060169
Gene: ENSMUSG00000046070
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
LRRNT
|
40 |
78 |
9.37e-10 |
SMART |
|
LRR
|
77 |
96 |
1.62e1 |
SMART |
|
LRR
|
97 |
120 |
1.41e1 |
SMART |
|
LRR_TYP
|
121 |
144 |
6.78e-3 |
SMART |
|
LRR
|
145 |
168 |
1.03e1 |
SMART |
|
LRR_TYP
|
169 |
192 |
1.1e-2 |
SMART |
|
LRR
|
193 |
216 |
2.17e-1 |
SMART |
|
LRR_TYP
|
217 |
240 |
2.4e-3 |
SMART |
|
LRR_TYP
|
241 |
264 |
1.82e-3 |
SMART |
|
LRR
|
265 |
288 |
5.72e-1 |
SMART |
|
LRR_TYP
|
289 |
312 |
6.23e-2 |
SMART |
|
LRR_TYP
|
313 |
336 |
6.32e-3 |
SMART |
|
LRR_TYP
|
337 |
360 |
2.2e-2 |
SMART |
|
LRR
|
361 |
384 |
1.89e-1 |
SMART |
|
LRR
|
385 |
408 |
3.87e1 |
SMART |
|
LRR
|
409 |
432 |
2.67e-1 |
SMART |
|
LRR_TYP
|
433 |
456 |
1.06e-4 |
SMART |
|
LRR_TYP
|
457 |
480 |
6.78e-3 |
SMART |
|
LRR
|
481 |
504 |
1.09e2 |
SMART |
|
LRR
|
505 |
530 |
2.68e1 |
SMART |
|
LRRCT
|
535 |
582 |
5.11e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068508
|
| SMART Domains |
Protein: ENSMUSP00000068567
Gene: ENSMUSG00000024160
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
109 |
N/A |
INTRINSIC |
|
Pfam:SPRY
|
146 |
252 |
1.3e-13 |
PFAM |
|
low complexity region
|
295 |
308 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117890
|
| SMART Domains |
Protein: ENSMUSP00000112380
Gene: ENSMUSG00000024160
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
109 |
N/A |
INTRINSIC |
|
Pfam:SPRY
|
146 |
269 |
1.6e-18 |
PFAM |
|
SOCS_box
|
274 |
312 |
2.8e0 |
SMART |
|
low complexity region
|
329 |
338 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119829
|
| SMART Domains |
Protein: ENSMUSP00000112589
Gene: ENSMUSG00000024160
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
109 |
N/A |
INTRINSIC |
|
Pfam:SPRY
|
146 |
294 |
6.9e-16 |
PFAM |
|
SOCS_box
|
299 |
337 |
2.8e0 |
SMART |
|
low complexity region
|
354 |
363 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119848
|
| SMART Domains |
Protein: ENSMUSP00000113167
Gene: ENSMUSG00000073436
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
ERCC4
|
71 |
320 |
8.51e-23 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000168265
AA Change: S91G
|
| SMART Domains |
Protein: ENSMUSP00000126878
Gene: ENSMUSG00000024160
AA Change: S91G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
145 |
156 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
184 |
195 |
N/A |
INTRINSIC |
|
low complexity region
|
244 |
255 |
N/A |
INTRINSIC |
|
Pfam:SPRY
|
294 |
416 |
5.8e-20 |
PFAM |
|
SOCS_box
|
420 |
458 |
2.8e0 |
SMART |
|
low complexity region
|
475 |
484 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134932
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120943
|
| SMART Domains |
Protein: ENSMUSP00000112492
Gene: ENSMUSG00000024160
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
109 |
N/A |
INTRINSIC |
|
Pfam:SPRY
|
146 |
269 |
1.6e-18 |
PFAM |
|
SOCS_box
|
274 |
312 |
2.8e0 |
SMART |
|
low complexity region
|
329 |
338 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130194
|
| SMART Domains |
Protein: ENSMUSP00000119896
Gene: ENSMUSG00000024160
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
49 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144430
|
| SMART Domains |
Protein: ENSMUSP00000117226
Gene: ENSMUSG00000024160
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
58 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AK157302 |
T |
C |
13: 21,679,732 (GRCm39) |
I86T |
possibly damaging |
Het |
| Akr1cl |
A |
T |
1: 65,061,147 (GRCm39) |
M124K |
probably benign |
Het |
| Asap2 |
T |
C |
12: 21,304,319 (GRCm39) |
L745P |
possibly damaging |
Het |
| B3gnt9 |
G |
A |
8: 105,981,116 (GRCm39) |
R91C |
probably damaging |
Het |
| Capg |
C |
T |
6: 72,532,474 (GRCm39) |
P13L |
probably benign |
Het |
| Eif3c |
C |
T |
7: 126,151,497 (GRCm39) |
R609H |
probably damaging |
Het |
| Ephb3 |
A |
G |
16: 21,036,993 (GRCm39) |
H152R |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,228,042 (GRCm39) |
D580G |
probably benign |
Het |
| Iars2 |
A |
G |
1: 185,059,918 (GRCm39) |
Y97H |
probably damaging |
Het |
| Ip6k2 |
A |
G |
9: 108,673,500 (GRCm39) |
|
probably null |
Het |
| Itih2 |
T |
A |
2: 10,099,698 (GRCm39) |
D907V |
probably damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,510,537 (GRCm39) |
|
probably benign |
Het |
| Msh4 |
A |
G |
3: 153,569,114 (GRCm39) |
C732R |
probably damaging |
Het |
| Mtss2 |
T |
C |
8: 111,464,981 (GRCm39) |
F474L |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,459,876 (GRCm39) |
E1175G |
probably damaging |
Het |
| Pgm3 |
A |
T |
9: 86,444,720 (GRCm39) |
C272S |
probably damaging |
Het |
| R3hcc1l |
T |
A |
19: 42,551,912 (GRCm39) |
I303N |
probably damaging |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Tgfbr2 |
G |
A |
9: 115,959,018 (GRCm39) |
T132I |
probably benign |
Het |
| Tpp2 |
A |
T |
1: 44,038,925 (GRCm39) |
E223V |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,719,794 (GRCm39) |
|
probably benign |
Het |
| Vmn2r102 |
T |
G |
17: 19,914,930 (GRCm39) |
L832V |
probably damaging |
Het |
|
| Other mutations in Spsb3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00533:Spsb3
|
APN |
17 |
25,109,539 (GRCm39) |
splice site |
probably benign |
|
|
IGL03225:Spsb3
|
APN |
17 |
25,110,045 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0071:Spsb3
|
UTSW |
17 |
25,106,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0071:Spsb3
|
UTSW |
17 |
25,106,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0924:Spsb3
|
UTSW |
17 |
25,110,358 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1291:Spsb3
|
UTSW |
17 |
25,106,782 (GRCm39) |
splice site |
probably null |
|
|
R2211:Spsb3
|
UTSW |
17 |
25,109,911 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4512:Spsb3
|
UTSW |
17 |
25,109,270 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4950:Spsb3
|
UTSW |
17 |
25,106,485 (GRCm39) |
intron |
probably benign |
|
|
R5020:Spsb3
|
UTSW |
17 |
25,106,036 (GRCm39) |
unclassified |
probably benign |
|
|
R5155:Spsb3
|
UTSW |
17 |
25,105,969 (GRCm39) |
unclassified |
probably benign |
|
|
R6444:Spsb3
|
UTSW |
17 |
25,110,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8954:Spsb3
|
UTSW |
17 |
25,110,493 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9029:Spsb3
|
UTSW |
17 |
25,110,506 (GRCm39) |
missense |
unknown |
|
|
R9667:Spsb3
|
UTSW |
17 |
25,105,784 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGCAAGCCTCTTGACAG -3'
(R):5'- TGTAGACCCACTGTACTACCC -3'
Sequencing Primer
(F):5'- AAGCCTCTTGACAGCAGTCCTG -3'
(R):5'- GTAGACCCACTGTACTACCCTACCTC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation