Incidental Mutation 'IGL01963:Sirpb1c'
| ID |
182451 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sirpb1c
|
| Ensembl Gene |
ENSMUSG00000074677 |
| Gene Name |
signal-regulatory protein beta 1C |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
IGL01963
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
15849311-15902694 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15892937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 89
(N89S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103989
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050623]
[ENSMUST00000108349]
[ENSMUST00000108350]
[ENSMUST00000108352]
[ENSMUST00000108354]
|
| AlphaFold |
K7N6K7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050623
AA Change: N89S
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000061216
Gene: ENSMUSG00000074677
AA Change: N89S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
IG
|
37 |
143 |
3.51e-8 |
SMART |
|
IGc1
|
163 |
236 |
4.07e-4 |
SMART |
|
IGc1
|
266 |
339 |
2.21e-5 |
SMART |
|
transmembrane domain
|
364 |
386 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108349
AA Change: N87S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000103986
Gene: ENSMUSG00000074677
AA Change: N87S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
23 |
N/A |
INTRINSIC |
|
IG
|
35 |
141 |
3.51e-8 |
SMART |
|
IGc1
|
161 |
234 |
4.07e-4 |
SMART |
|
IGc1
|
264 |
337 |
2.21e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108350
AA Change: N89S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000103987
Gene: ENSMUSG00000074677
AA Change: N89S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
IG
|
37 |
143 |
3.51e-8 |
SMART |
|
IGc1
|
163 |
236 |
4.07e-4 |
SMART |
|
IGc1
|
266 |
339 |
2.21e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108352
AA Change: N89S
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000103989
Gene: ENSMUSG00000074677
AA Change: N89S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
IG
|
37 |
143 |
3.51e-8 |
SMART |
|
IGc1
|
163 |
236 |
4.07e-4 |
SMART |
|
IGc1
|
266 |
339 |
2.21e-5 |
SMART |
|
transmembrane domain
|
370 |
392 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108354
AA Change: N89S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000103991
Gene: ENSMUSG00000074677
AA Change: N89S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
IG
|
37 |
143 |
3.51e-8 |
SMART |
|
IGc1
|
163 |
236 |
4.07e-4 |
SMART |
|
IGc1
|
266 |
339 |
2.21e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124067
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148194
|
| SMART Domains |
Protein: ENSMUSP00000120527
Gene: ENSMUSG00000074677
| Domain | Start | End | E-Value | Type |
|---|
|
IGc1
|
32 |
105 |
4.07e-4 |
SMART |
|
IGc1
|
135 |
208 |
2.21e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191802
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610042L04Rik |
G |
A |
14: 4,350,856 (GRCm38) |
G130D |
probably damaging |
Het |
| Abca8b |
T |
A |
11: 109,862,589 (GRCm39) |
D392V |
probably damaging |
Het |
| Cep43 |
A |
T |
17: 8,411,109 (GRCm39) |
D354V |
probably damaging |
Het |
| Clptm1l |
T |
A |
13: 73,765,688 (GRCm39) |
|
probably benign |
Het |
| Creb3l1 |
G |
A |
2: 91,823,678 (GRCm39) |
T178I |
probably benign |
Het |
| Ctsd |
A |
G |
7: 141,930,336 (GRCm39) |
|
probably null |
Het |
| Dcstamp |
A |
T |
15: 39,623,755 (GRCm39) |
I401F |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,370,682 (GRCm39) |
D2874G |
probably benign |
Het |
| Fcsk |
A |
G |
8: 111,620,034 (GRCm39) |
F281S |
probably damaging |
Het |
| Fli1 |
T |
A |
9: 32,335,503 (GRCm39) |
K310* |
probably null |
Het |
| Fndc4 |
C |
T |
5: 31,452,556 (GRCm39) |
|
probably null |
Het |
| Gc |
G |
A |
5: 89,569,981 (GRCm39) |
|
probably benign |
Het |
| Krtap26-1 |
A |
G |
16: 88,444,556 (GRCm39) |
C22R |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,911,367 (GRCm39) |
G6422S |
probably benign |
Het |
| Or10d5 |
C |
A |
9: 39,861,536 (GRCm39) |
C177F |
probably damaging |
Het |
| Or10j2 |
T |
A |
1: 173,097,919 (GRCm39) |
M59K |
probably damaging |
Het |
| Or5b21 |
T |
A |
19: 12,839,746 (GRCm39) |
F202L |
probably benign |
Het |
| Pgr |
C |
T |
9: 8,922,669 (GRCm39) |
P613L |
probably damaging |
Het |
| Pnpla8 |
C |
A |
12: 44,342,816 (GRCm39) |
A524E |
possibly damaging |
Het |
| Psma2 |
A |
T |
13: 14,793,948 (GRCm39) |
I105F |
probably damaging |
Het |
| Ptprg |
A |
G |
14: 12,220,661 (GRCm38) |
R458G |
probably damaging |
Het |
| Rbm44 |
A |
G |
1: 91,090,830 (GRCm39) |
I755V |
probably benign |
Het |
| Rev3l |
A |
G |
10: 39,698,733 (GRCm39) |
K1077E |
possibly damaging |
Het |
| Rps20 |
A |
C |
4: 3,834,494 (GRCm39) |
|
probably benign |
Het |
| Sel1l3 |
A |
C |
5: 53,357,680 (GRCm39) |
V104G |
probably damaging |
Het |
| Slc25a16 |
G |
A |
10: 62,766,220 (GRCm39) |
|
probably null |
Het |
| Sulf1 |
C |
T |
1: 12,888,731 (GRCm39) |
R339C |
probably damaging |
Het |
| Tedc2 |
C |
T |
17: 24,436,926 (GRCm39) |
A270T |
probably benign |
Het |
| Trem3 |
T |
C |
17: 48,554,880 (GRCm39) |
S2P |
possibly damaging |
Het |
| Vps37a |
G |
T |
8: 40,993,771 (GRCm39) |
Q255H |
probably damaging |
Het |
| Zfp352 |
C |
T |
4: 90,112,391 (GRCm39) |
A177V |
possibly damaging |
Het |
|
| Other mutations in Sirpb1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0094:Sirpb1c
|
UTSW |
3 |
15,892,922 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0356:Sirpb1c
|
UTSW |
3 |
15,887,309 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0442:Sirpb1c
|
UTSW |
3 |
15,856,710 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3731:Sirpb1c
|
UTSW |
3 |
15,887,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4812:Sirpb1c
|
UTSW |
3 |
15,887,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5802:Sirpb1c
|
UTSW |
3 |
15,886,240 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6315:Sirpb1c
|
UTSW |
3 |
15,886,470 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7107:Sirpb1c
|
UTSW |
3 |
15,892,941 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7148:Sirpb1c
|
UTSW |
3 |
15,887,223 (GRCm39) |
nonsense |
probably null |
|
|
R7349:Sirpb1c
|
UTSW |
3 |
15,886,310 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7356:Sirpb1c
|
UTSW |
3 |
15,886,297 (GRCm39) |
missense |
probably benign |
|
|
R7359:Sirpb1c
|
UTSW |
3 |
15,887,389 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7466:Sirpb1c
|
UTSW |
3 |
15,886,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7629:Sirpb1c
|
UTSW |
3 |
15,902,559 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7720:Sirpb1c
|
UTSW |
3 |
15,886,236 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7726:Sirpb1c
|
UTSW |
3 |
15,902,550 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7853:Sirpb1c
|
UTSW |
3 |
15,887,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7886:Sirpb1c
|
UTSW |
3 |
15,886,366 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8519:Sirpb1c
|
UTSW |
3 |
15,902,526 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8847:Sirpb1c
|
UTSW |
3 |
15,886,584 (GRCm39) |
nonsense |
probably null |
|
|
R8854:Sirpb1c
|
UTSW |
3 |
15,887,308 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Posted On |
2014-05-07 |
Incidental Mutation