Incidental Mutation 'R0071:Spsb3'
ID |
16305 |
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 |
038362-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.131)
|
Stock # |
R0071 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
25105617-25111126 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 25106878 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 184
(D184G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126878
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024976]
[ENSMUST00000044252]
[ENSMUST00000068508]
[ENSMUST00000117890]
[ENSMUST00000119829]
[ENSMUST00000119848]
[ENSMUST00000120943]
[ENSMUST00000168265]
[ENSMUST00000144430]
[ENSMUST00000130194]
[ENSMUST00000146923]
[ENSMUST00000139754]
[ENSMUST00000121542]
|
AlphaFold |
Q571F5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024976
AA Change: D73G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000024976 Gene: ENSMUSG00000024160 AA Change: D73G
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 damaging
Transcript: ENSMUST00000068508
AA Change: D38G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000068567 Gene: ENSMUSG00000024160 AA Change: D38G
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 damaging
Transcript: ENSMUST00000117890
AA Change: D38G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112380 Gene: ENSMUSG00000024160 AA Change: D38G
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 damaging
Transcript: ENSMUST00000119829
AA Change: D38G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000112589 Gene: ENSMUSG00000024160 AA Change: D38G
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 |
probably damaging
Transcript: ENSMUST00000120943
AA Change: D38G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112492 Gene: ENSMUSG00000024160 AA Change: D38G
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 damaging
Transcript: ENSMUST00000168265
AA Change: D184G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126878 Gene: ENSMUSG00000024160 AA Change: D184G
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 |
unknown
Transcript: ENSMUST00000144430
AA Change: D14G
|
SMART Domains |
Protein: ENSMUSP00000117226 Gene: ENSMUSG00000024160 AA Change: D14G
Domain | Start | End | E-Value | Type |
low complexity region
|
43 |
58 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000130194
AA Change: D38G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119896 Gene: ENSMUSG00000024160 AA Change: D38G
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
low complexity region
|
38 |
49 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145882
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134932
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156659
|
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: 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 |
|
Meta Mutation Damage Score |
0.1024 |
Coding Region Coverage |
- 1x: 88.2%
- 3x: 84.4%
- 10x: 70.8%
- 20x: 43.5%
|
Validation Efficiency |
93% (94/101) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acrbp |
T |
C |
6: 125,027,915 (GRCm39) |
|
probably benign |
Het |
Amotl1 |
G |
A |
9: 14,460,069 (GRCm39) |
A890V |
probably benign |
Het |
Aox3 |
T |
A |
1: 58,211,050 (GRCm39) |
C931* |
probably null |
Het |
Apob |
T |
A |
12: 8,052,111 (GRCm39) |
V1184E |
probably damaging |
Het |
Bbx |
C |
T |
16: 50,100,755 (GRCm39) |
E47K |
probably benign |
Het |
Bccip |
A |
G |
7: 133,315,960 (GRCm39) |
D72G |
probably damaging |
Het |
Bckdha |
A |
T |
7: 25,329,868 (GRCm39) |
|
probably null |
Het |
Bmerb1 |
A |
G |
16: 13,906,818 (GRCm39) |
D11G |
probably damaging |
Het |
Cald1 |
C |
T |
6: 34,735,069 (GRCm39) |
|
probably benign |
Het |
Cdk11b |
T |
C |
4: 155,733,880 (GRCm39) |
|
probably benign |
Het |
Cebpe |
G |
T |
14: 54,948,061 (GRCm39) |
R261S |
probably damaging |
Het |
Cep95 |
C |
T |
11: 106,681,554 (GRCm39) |
|
probably benign |
Het |
Chi3l1 |
T |
C |
1: 134,113,017 (GRCm39) |
Y150H |
probably benign |
Het |
Chrnd |
T |
C |
1: 87,120,559 (GRCm39) |
|
probably benign |
Het |
Cog2 |
T |
C |
8: 125,275,407 (GRCm39) |
|
probably benign |
Het |
Coro7 |
A |
T |
16: 4,488,391 (GRCm39) |
L93Q |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 47,460,217 (GRCm39) |
T3525A |
probably benign |
Het |
Fam227b |
T |
A |
2: 125,965,994 (GRCm39) |
N144Y |
probably benign |
Het |
Fhod1 |
A |
T |
8: 106,063,857 (GRCm39) |
|
probably null |
Het |
Folr1 |
A |
G |
7: 101,513,130 (GRCm39) |
|
probably null |
Het |
Glis3 |
C |
T |
19: 28,241,255 (GRCm39) |
|
probably benign |
Het |
Golgb1 |
G |
A |
16: 36,735,865 (GRCm39) |
R1704Q |
probably benign |
Het |
Helz2 |
T |
C |
2: 180,878,200 (GRCm39) |
Y866C |
probably damaging |
Het |
Kcnma1 |
C |
T |
14: 23,576,835 (GRCm39) |
R236H |
probably damaging |
Het |
Lct |
C |
T |
1: 128,219,755 (GRCm39) |
W1631* |
probably null |
Het |
Limk1 |
G |
T |
5: 134,690,245 (GRCm39) |
Q104K |
probably benign |
Het |
Ly75 |
T |
C |
2: 60,152,163 (GRCm39) |
K1130R |
probably benign |
Het |
Mdm1 |
A |
G |
10: 117,982,701 (GRCm39) |
E112G |
probably damaging |
Het |
Myo7a |
A |
T |
7: 97,706,037 (GRCm39) |
Y1836N |
probably damaging |
Het |
Nsun7 |
A |
G |
5: 66,421,388 (GRCm39) |
Y118C |
probably benign |
Het |
Or13a20 |
A |
T |
7: 140,232,170 (GRCm39) |
I93F |
probably benign |
Het |
Or2d36 |
A |
G |
7: 106,746,919 (GRCm39) |
Y132C |
probably damaging |
Het |
Osbpl11 |
T |
C |
16: 33,034,708 (GRCm39) |
|
probably benign |
Het |
Pik3cb |
A |
T |
9: 98,926,918 (GRCm39) |
D886E |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,271,568 (GRCm39) |
Y2995F |
probably benign |
Het |
Raver2 |
C |
T |
4: 100,977,642 (GRCm39) |
|
probably benign |
Het |
Sec22c |
A |
G |
9: 121,521,979 (GRCm39) |
F44L |
probably damaging |
Het |
Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
Shoc1 |
A |
G |
4: 59,059,643 (GRCm39) |
Y1006H |
possibly damaging |
Het |
Sobp |
A |
G |
10: 43,033,993 (GRCm39) |
L111P |
probably damaging |
Het |
Sparcl1 |
G |
T |
5: 104,233,707 (GRCm39) |
Y547* |
probably null |
Het |
Spata31d1b |
G |
A |
13: 59,863,163 (GRCm39) |
A104T |
probably benign |
Het |
Sptan1 |
A |
T |
2: 29,893,354 (GRCm39) |
K1148* |
probably null |
Het |
Tdrd12 |
A |
G |
7: 35,228,671 (GRCm39) |
V17A |
possibly damaging |
Het |
Tlr9 |
A |
G |
9: 106,100,777 (GRCm39) |
T23A |
probably benign |
Het |
Tra2b |
A |
T |
16: 22,073,151 (GRCm39) |
|
probably benign |
Het |
Tspan15 |
A |
G |
10: 62,038,849 (GRCm39) |
|
probably benign |
Het |
Ttc41 |
A |
G |
10: 86,572,710 (GRCm39) |
N694S |
probably benign |
Het |
Ube3b |
G |
A |
5: 114,557,558 (GRCm39) |
G1014D |
probably damaging |
Het |
Unc5d |
A |
G |
8: 29,209,854 (GRCm39) |
V422A |
possibly damaging |
Het |
Vmn2r80 |
C |
T |
10: 79,007,566 (GRCm39) |
T514I |
possibly 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 |
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 |
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 |
|
|
Posted On |
2013-01-20 |