Incidental Mutation 'IGL02275:Sirpb1a'
| ID |
287322 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sirpb1a
|
| Ensembl Gene |
ENSMUSG00000095788 |
| Gene Name |
signal-regulatory protein beta 1A |
| Synonyms |
9930027N05Rik, Sirpb1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
IGL02275
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
15436887-15491487 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 15475469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141504
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099201]
[ENSMUST00000192700]
[ENSMUST00000194144]
|
| AlphaFold |
A0A0A6YYP6 |
| Predicted Effect |
silent
Transcript: ENSMUST00000099201
|
| SMART Domains |
Protein: ENSMUSP00000096807
Gene: ENSMUSG00000095788
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
21 |
N/A |
INTRINSIC |
|
IG
|
37 |
143 |
2.48e-8 |
SMART |
|
IGc1
|
163 |
236 |
1.17e-4 |
SMART |
|
IGc1
|
269 |
339 |
4.91e-4 |
SMART |
|
transmembrane domain
|
364 |
386 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191958
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000192700
|
| SMART Domains |
Protein: ENSMUSP00000141504
Gene: ENSMUSG00000095788
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
21 |
N/A |
INTRINSIC |
|
IG
|
37 |
143 |
2.48e-8 |
SMART |
|
IGc1
|
163 |
236 |
1.17e-4 |
SMART |
|
IGc1
|
269 |
339 |
4.91e-4 |
SMART |
|
transmembrane domain
|
364 |
386 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194144
|
| SMART Domains |
Protein: ENSMUSP00000141659
Gene: ENSMUSG00000095788
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ig_2
|
15 |
66 |
6.6e-1 |
PFAM |
|
Pfam:Ig_3
|
21 |
52 |
1.7e-2 |
PFAM |
|
Pfam:V-set
|
23 |
75 |
1.2e-7 |
PFAM |
|
IGc1
|
96 |
169 |
4.8e-7 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700037C18Rik |
T |
A |
16: 3,724,146 (GRCm39) |
D130V |
probably damaging |
Het |
| 4930596D02Rik |
T |
C |
14: 35,533,880 (GRCm39) |
T9A |
probably benign |
Het |
| Anapc1 |
C |
A |
2: 128,501,772 (GRCm39) |
A757S |
probably benign |
Het |
| Bpifa6 |
A |
T |
2: 153,834,192 (GRCm39) |
D328V |
probably benign |
Het |
| Cdh19 |
T |
A |
1: 110,853,616 (GRCm39) |
K275I |
probably benign |
Het |
| Col18a1 |
A |
G |
10: 76,895,217 (GRCm39) |
I1148T |
possibly damaging |
Het |
| Commd1 |
A |
T |
11: 22,850,017 (GRCm39) |
V222D |
probably damaging |
Het |
| Crim1 |
T |
A |
17: 78,677,427 (GRCm39) |
M876K |
possibly damaging |
Het |
| Dennd1b |
C |
A |
1: 139,008,992 (GRCm39) |
H232N |
probably damaging |
Het |
| Dhx57 |
T |
C |
17: 80,582,268 (GRCm39) |
T393A |
probably benign |
Het |
| Dnai7 |
T |
C |
6: 145,123,090 (GRCm39) |
Y592C |
probably damaging |
Het |
| Gabrb2 |
G |
T |
11: 42,482,721 (GRCm39) |
R193L |
probably benign |
Het |
| Gm5828 |
T |
A |
1: 16,839,342 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6483 |
C |
T |
8: 19,741,629 (GRCm39) |
P55S |
probably damaging |
Het |
| Hsp90ab1 |
T |
C |
17: 45,879,364 (GRCm39) |
Y619C |
possibly damaging |
Het |
| Kctd19 |
A |
G |
8: 106,123,006 (GRCm39) |
I136T |
probably damaging |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or2w6 |
A |
C |
13: 21,843,170 (GRCm39) |
F108V |
probably benign |
Het |
| Sel1l |
T |
C |
12: 91,781,789 (GRCm39) |
Y532C |
probably damaging |
Het |
| Ush2a |
C |
T |
1: 187,995,466 (GRCm39) |
T79M |
possibly damaging |
Het |
| Usp24 |
T |
C |
4: 106,244,690 (GRCm39) |
V1215A |
probably damaging |
Het |
| Vdac3-ps1 |
T |
C |
13: 18,205,379 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r75 |
T |
C |
7: 85,814,348 (GRCm39) |
T382A |
probably benign |
Het |
| Vps53 |
T |
C |
11: 75,937,949 (GRCm39) |
Y728C |
probably benign |
Het |
|
| Other mutations in Sirpb1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00493:Sirpb1a
|
APN |
3 |
15,475,788 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00597:Sirpb1a
|
APN |
3 |
15,481,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01521:Sirpb1a
|
APN |
3 |
15,475,561 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01678:Sirpb1a
|
APN |
3 |
15,476,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02154:Sirpb1a
|
APN |
3 |
15,475,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02419:Sirpb1a
|
APN |
3 |
15,491,398 (GRCm39) |
missense |
probably benign |
|
|
IGL02657:Sirpb1a
|
APN |
3 |
15,482,111 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL03086:Sirpb1a
|
APN |
3 |
15,491,388 (GRCm39) |
splice site |
probably null |
|
|
PIT4142001:Sirpb1a
|
UTSW |
3 |
15,476,258 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0270:Sirpb1a
|
UTSW |
3 |
15,475,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1975:Sirpb1a
|
UTSW |
3 |
15,444,141 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3432:Sirpb1a
|
UTSW |
3 |
15,491,447 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4613:Sirpb1a
|
UTSW |
3 |
15,482,097 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5325:Sirpb1a
|
UTSW |
3 |
15,476,503 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6223:Sirpb1a
|
UTSW |
3 |
15,444,086 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6526:Sirpb1a
|
UTSW |
3 |
15,444,080 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6903:Sirpb1a
|
UTSW |
3 |
15,481,984 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7349:Sirpb1a
|
UTSW |
3 |
15,475,664 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7513:Sirpb1a
|
UTSW |
3 |
15,476,503 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8250:Sirpb1a
|
UTSW |
3 |
15,444,104 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8700:Sirpb1a
|
UTSW |
3 |
15,476,419 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9263:Sirpb1a
|
UTSW |
3 |
15,481,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9553:Sirpb1a
|
UTSW |
3 |
15,476,320 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation