Incidental Mutation 'IGL02025:Sirpb1b'
| ID |
184112 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sirpb1b
|
| Ensembl Gene |
ENSMUSG00000095028 |
| Gene Name |
signal-regulatory protein beta 1B |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
IGL02025
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
15560814-15640127 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 15613863 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 73
(R73Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142068
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091319]
[ENSMUST00000192382]
[ENSMUST00000195778]
|
| AlphaFold |
A0A0A6YXN8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091319
AA Change: R73Q
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000088869
Gene: ENSMUSG00000095028
AA Change: R73Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
23 |
N/A |
INTRINSIC |
|
IG
|
37 |
143 |
8.19e-9 |
SMART |
|
IGc1
|
163 |
236 |
1.22e-4 |
SMART |
|
IGc1
|
266 |
339 |
2.21e-5 |
SMART |
|
transmembrane domain
|
364 |
386 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000192382
AA Change: R73Q
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142068
Gene: ENSMUSG00000095028
AA Change: R73Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
IG
|
37 |
143 |
3.3e-11 |
SMART |
|
IGc1
|
163 |
236 |
5.1e-7 |
SMART |
|
Pfam:C2-set_2
|
251 |
340 |
1e-4 |
PFAM |
|
Pfam:Ig_2
|
251 |
348 |
2.7e-1 |
PFAM |
|
Pfam:C1-set
|
258 |
341 |
1.3e-13 |
PFAM |
|
transmembrane domain
|
370 |
392 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193767
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194767
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195778
|
| SMART Domains |
Protein: ENSMUSP00000141533
Gene: ENSMUSG00000095028
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ig_2
|
14 |
66 |
5.6e-1 |
PFAM |
|
Pfam:Ig_3
|
22 |
52 |
7.8e-3 |
PFAM |
|
Pfam:V-set
|
24 |
75 |
1.9e-7 |
PFAM |
|
IGc1
|
96 |
169 |
5.1e-7 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1l1 |
T |
C |
18: 61,866,770 (GRCm39) |
|
probably benign |
Het |
| Akap6 |
A |
G |
12: 53,187,118 (GRCm39) |
T1511A |
probably benign |
Het |
| Casp8 |
A |
C |
1: 58,863,306 (GRCm39) |
I69L |
possibly damaging |
Het |
| Cdh23 |
T |
C |
10: 60,220,922 (GRCm39) |
E1274G |
probably damaging |
Het |
| Cfap47 |
A |
T |
X: 78,554,036 (GRCm39) |
S230R |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,103,976 (GRCm39) |
|
probably null |
Het |
| Dock5 |
A |
G |
14: 68,000,736 (GRCm39) |
S1656P |
probably damaging |
Het |
| Dock6 |
A |
G |
9: 21,720,885 (GRCm39) |
S1707P |
probably damaging |
Het |
| Eddm3b |
T |
A |
14: 51,354,228 (GRCm39) |
V72D |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,811,337 (GRCm39) |
D1508G |
probably damaging |
Het |
| Gm20489 |
A |
C |
X: 100,307,290 (GRCm39) |
V21G |
probably damaging |
Het |
| Il16 |
T |
C |
7: 83,302,056 (GRCm39) |
N22S |
probably damaging |
Het |
| Ksr1 |
T |
C |
11: 78,912,276 (GRCm39) |
|
probably null |
Het |
| Lrrc32 |
C |
T |
7: 98,148,767 (GRCm39) |
R516C |
probably benign |
Het |
| Naa25 |
T |
C |
5: 121,577,928 (GRCm39) |
V945A |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,197,751 (GRCm39) |
T501A |
probably benign |
Het |
| Npnt |
A |
C |
3: 132,596,523 (GRCm39) |
|
probably null |
Het |
| Nr1h5 |
G |
A |
3: 102,856,942 (GRCm39) |
|
probably benign |
Het |
| Opalin |
T |
C |
19: 41,060,674 (GRCm39) |
|
probably benign |
Het |
| Or10ak9 |
G |
A |
4: 118,726,362 (GRCm39) |
C127Y |
probably damaging |
Het |
| Or2w6 |
A |
G |
13: 21,843,433 (GRCm39) |
V20A |
possibly damaging |
Het |
| Or9s13 |
A |
G |
1: 92,548,269 (GRCm39) |
I214V |
probably benign |
Het |
| Pls3 |
A |
T |
X: 74,840,101 (GRCm39) |
L341H |
probably damaging |
Het |
| Pnp2 |
T |
A |
14: 51,197,010 (GRCm39) |
L32H |
probably damaging |
Het |
| Prpf40b |
T |
C |
15: 99,212,469 (GRCm39) |
F571S |
probably damaging |
Het |
| Prss16 |
A |
G |
13: 22,187,191 (GRCm39) |
S460P |
probably damaging |
Het |
| Sh3bp4 |
T |
C |
1: 89,073,008 (GRCm39) |
S619P |
probably benign |
Het |
| Slc22a8 |
G |
A |
19: 8,571,539 (GRCm39) |
G90E |
possibly damaging |
Het |
| Tbc1d2 |
G |
A |
4: 46,620,713 (GRCm39) |
R366W |
probably damaging |
Het |
| Tns2 |
T |
A |
15: 102,020,484 (GRCm39) |
Y783* |
probably null |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
| Zfp7 |
C |
T |
15: 76,772,464 (GRCm39) |
S55F |
probably damaging |
Het |
|
| Other mutations in Sirpb1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01384:Sirpb1b
|
APN |
3 |
15,613,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01662:Sirpb1b
|
APN |
3 |
15,608,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
F5770:Sirpb1b
|
UTSW |
3 |
15,568,243 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0419:Sirpb1b
|
UTSW |
3 |
15,613,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1538:Sirpb1b
|
UTSW |
3 |
15,613,819 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3935:Sirpb1b
|
UTSW |
3 |
15,613,843 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4300:Sirpb1b
|
UTSW |
3 |
15,613,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4373:Sirpb1b
|
UTSW |
3 |
15,613,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4953:Sirpb1b
|
UTSW |
3 |
15,613,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5425:Sirpb1b
|
UTSW |
3 |
15,613,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6340:Sirpb1b
|
UTSW |
3 |
15,613,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6357:Sirpb1b
|
UTSW |
3 |
15,568,243 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6723:Sirpb1b
|
UTSW |
3 |
15,613,858 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7152:Sirpb1b
|
UTSW |
3 |
15,607,230 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7390:Sirpb1b
|
UTSW |
3 |
15,608,100 (GRCm39) |
nonsense |
probably null |
|
|
R7411:Sirpb1b
|
UTSW |
3 |
15,608,057 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7513:Sirpb1b
|
UTSW |
3 |
15,607,200 (GRCm39) |
nonsense |
probably null |
|
|
R7526:Sirpb1b
|
UTSW |
3 |
15,613,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8352:Sirpb1b
|
UTSW |
3 |
15,607,410 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8452:Sirpb1b
|
UTSW |
3 |
15,607,410 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8794:Sirpb1b
|
UTSW |
3 |
15,613,843 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9165:Sirpb1b
|
UTSW |
3 |
15,639,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9793:Sirpb1b
|
UTSW |
3 |
15,640,074 (GRCm39) |
unclassified |
probably benign |
|
|
V7583:Sirpb1b
|
UTSW |
3 |
15,568,243 (GRCm39) |
missense |
probably benign |
0.25 |
|
Z1177:Sirpb1b
|
UTSW |
3 |
15,640,001 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2014-05-07 |
Incidental Mutation