Incidental Mutation 'R4950:Spsb3'
ID |
381944 |
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 |
MMRRC Submission |
042547-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
R4950 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
25105617-25111126 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to A
at 25106485 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126878
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024976]
[ENSMUST00000044252]
[ENSMUST00000068508]
[ENSMUST00000117890]
[ENSMUST00000119829]
[ENSMUST00000119848]
[ENSMUST00000130194]
[ENSMUST00000121542]
[ENSMUST00000146923]
[ENSMUST00000139754]
[ENSMUST00000144430]
[ENSMUST00000168265]
[ENSMUST00000120943]
|
AlphaFold |
Q571F5 |
Predicted Effect |
unknown
Transcript: ENSMUST00000024976
AA Change: S6T
|
SMART Domains |
Protein: ENSMUSP00000024976 Gene: ENSMUSG00000024160 AA Change: S6T
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: 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 |
noncoding transcript
Transcript: ENSMUST00000156659
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134932
|
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: ENSMUST00000121542
|
SMART Domains |
Protein: ENSMUSP00000113936 Gene: ENSMUSG00000073436
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
ERCC4
|
71 |
320 |
1.4e-23 |
SMART |
low complexity region
|
366 |
373 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146923
|
SMART Domains |
Protein: ENSMUSP00000114802 Gene: ENSMUSG00000024163
Domain | Start | End | E-Value | Type |
Pfam:Jnk-SapK_ap_N
|
29 |
186 |
1.4e-72 |
PFAM |
low complexity region
|
236 |
249 |
N/A |
INTRINSIC |
low complexity region
|
261 |
270 |
N/A |
INTRINSIC |
PDB:2W83|D
|
417 |
472 |
6e-20 |
PDB |
coiled coil region
|
525 |
555 |
N/A |
INTRINSIC |
low complexity region
|
582 |
596 |
N/A |
INTRINSIC |
low complexity region
|
754 |
769 |
N/A |
INTRINSIC |
low complexity region
|
893 |
901 |
N/A |
INTRINSIC |
low complexity region
|
928 |
940 |
N/A |
INTRINSIC |
SCOP:d1flga_
|
987 |
1167 |
4e-8 |
SMART |
Blast:WD40
|
1075 |
1116 |
6e-18 |
BLAST |
low complexity region
|
1260 |
1276 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139754
|
SMART Domains |
Protein: ENSMUSP00000118245 Gene: ENSMUSG00000073436
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
24 |
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168265
|
SMART Domains |
Protein: ENSMUSP00000126878 Gene: ENSMUSG00000024160
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 |
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 92.9%
|
Validation Efficiency |
100% (58/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bpifb9b |
A |
T |
2: 154,153,579 (GRCm39) |
D215V |
probably damaging |
Het |
Cacna1i |
A |
G |
15: 80,252,872 (GRCm39) |
E625G |
probably damaging |
Het |
Cage1 |
C |
T |
13: 38,207,302 (GRCm39) |
S181N |
possibly damaging |
Het |
Ccdc73 |
A |
C |
2: 104,822,711 (GRCm39) |
I887L |
probably benign |
Het |
Cfap65 |
T |
A |
1: 74,945,495 (GRCm39) |
K1408* |
probably null |
Het |
Cngb1 |
C |
A |
8: 95,975,135 (GRCm39) |
G654W |
probably damaging |
Het |
Cxcl15 |
A |
T |
5: 90,943,104 (GRCm39) |
E35D |
possibly damaging |
Het |
Ddi1 |
A |
G |
9: 6,266,073 (GRCm39) |
S99P |
probably benign |
Het |
Disp3 |
A |
T |
4: 148,342,583 (GRCm39) |
D622E |
possibly damaging |
Het |
Dnajc22 |
G |
A |
15: 98,999,615 (GRCm39) |
V267I |
probably benign |
Het |
Dph5 |
G |
A |
3: 115,722,292 (GRCm39) |
G257S |
probably benign |
Het |
Elmo2 |
A |
T |
2: 165,156,733 (GRCm39) |
|
probably null |
Het |
Fam186a |
T |
C |
15: 99,839,534 (GRCm39) |
R2237G |
unknown |
Het |
Fez1 |
G |
A |
9: 36,779,178 (GRCm39) |
R285Q |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,777,276 (GRCm39) |
H101L |
probably damaging |
Het |
Fsip2 |
G |
A |
2: 82,807,758 (GRCm39) |
C1359Y |
probably benign |
Het |
Fxyd7 |
G |
A |
7: 30,746,815 (GRCm39) |
T15I |
probably benign |
Het |
Gpr155 |
A |
T |
2: 73,212,529 (GRCm39) |
D31E |
probably benign |
Het |
Iho1 |
A |
C |
9: 108,298,709 (GRCm39) |
S36R |
probably damaging |
Het |
Irx6 |
A |
T |
8: 93,405,428 (GRCm39) |
Y432F |
probably damaging |
Het |
Itih5 |
A |
C |
2: 10,239,892 (GRCm39) |
I340L |
probably damaging |
Het |
Lao1 |
T |
C |
4: 118,822,572 (GRCm39) |
L164S |
probably damaging |
Het |
Mcoln3 |
T |
C |
3: 145,845,274 (GRCm39) |
I490T |
probably damaging |
Het |
Mef2b |
T |
C |
8: 70,619,846 (GRCm39) |
Y311H |
probably damaging |
Het |
Mras |
A |
T |
9: 99,276,537 (GRCm39) |
L111Q |
probably damaging |
Het |
Mrc1 |
A |
G |
2: 14,276,091 (GRCm39) |
D475G |
probably damaging |
Het |
Nrcam |
T |
C |
12: 44,645,273 (GRCm39) |
I1155T |
probably damaging |
Het |
Ntrk1 |
A |
G |
3: 87,696,918 (GRCm39) |
|
probably null |
Het |
Or7e165 |
G |
A |
9: 19,695,027 (GRCm39) |
M199I |
probably benign |
Het |
Or8b38 |
T |
C |
9: 37,973,297 (GRCm39) |
I227T |
probably damaging |
Het |
Parp9 |
A |
T |
16: 35,768,377 (GRCm39) |
I186F |
probably damaging |
Het |
Pcdhac2 |
T |
A |
18: 37,278,283 (GRCm39) |
V421E |
probably benign |
Het |
Pck1 |
T |
A |
2: 172,996,620 (GRCm39) |
I178K |
probably benign |
Het |
Pde6b |
A |
G |
5: 108,578,569 (GRCm39) |
K836E |
probably benign |
Het |
Ptprd |
T |
A |
4: 76,058,752 (GRCm39) |
|
probably null |
Het |
Pwp2 |
A |
G |
10: 78,018,840 (GRCm39) |
Y56H |
probably benign |
Het |
Rarb |
G |
A |
14: 16,432,085 (GRCm38) |
|
probably benign |
Het |
Rpain |
C |
G |
11: 70,861,747 (GRCm39) |
H50Q |
probably benign |
Het |
Rps9 |
CTGTTTG |
CTG |
7: 3,707,758 (GRCm39) |
|
probably null |
Het |
Rubcn |
A |
T |
16: 32,663,563 (GRCm39) |
S358T |
probably damaging |
Het |
Ryr2 |
G |
A |
13: 11,756,897 (GRCm39) |
R1586C |
probably damaging |
Het |
Slfn9 |
T |
C |
11: 82,872,730 (GRCm39) |
I669V |
probably benign |
Het |
Slx1b |
T |
C |
7: 126,290,939 (GRCm39) |
|
probably benign |
Het |
Tbx15 |
A |
G |
3: 99,233,700 (GRCm39) |
I288V |
possibly damaging |
Het |
Tlr2 |
C |
A |
3: 83,744,639 (GRCm39) |
E481D |
probably damaging |
Het |
Trim17 |
A |
T |
11: 58,861,254 (GRCm39) |
D253V |
probably damaging |
Het |
Trim69 |
A |
G |
2: 122,009,227 (GRCm39) |
D429G |
probably damaging |
Het |
Vstm5 |
A |
G |
9: 15,169,090 (GRCm39) |
|
probably null |
Het |
Vwa3b |
A |
G |
1: 37,124,413 (GRCm39) |
Q337R |
probably benign |
Het |
Zfp113 |
T |
C |
5: 138,143,734 (GRCm39) |
N172S |
probably benign |
Het |
Zfp607a |
T |
A |
7: 27,578,176 (GRCm39) |
H415Q |
probably damaging |
Het |
Zfp87 |
G |
A |
13: 67,666,018 (GRCm39) |
T148I |
probably benign |
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 |
|
R2378:Spsb3
|
UTSW |
17 |
25,105,924 (GRCm39) |
unclassified |
probably benign |
|
R4512:Spsb3
|
UTSW |
17 |
25,109,270 (GRCm39) |
missense |
probably damaging |
0.97 |
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'- AGTTTGTAGTGTGCAGAGCC -3'
(R):5'- CACTTCTACCTGGCAGCCTAAG -3'
Sequencing Primer
(F):5'- TGGGGGTCTCCAATGGCAAG -3'
(R):5'- GCAGCCTAAGCCATGGATC -3'
|
Posted On |
2016-04-27 |