Incidental Mutation 'IGL03086:Sirpb1a'
| ID |
418118 |
| 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 # |
IGL03086
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
15436887-15491487 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 15491388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141659
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099201]
[ENSMUST00000192700]
[ENSMUST00000194144]
|
| AlphaFold |
A0A0A6YYP6 |
| Predicted Effect |
probably null
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 null
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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankar |
A |
G |
1: 72,682,437 (GRCm39) |
I1158T |
possibly damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,621,249 (GRCm39) |
S868P |
probably damaging |
Het |
| Atad3a |
C |
T |
4: 155,833,127 (GRCm39) |
|
probably null |
Het |
| Cadm4 |
A |
T |
7: 24,200,240 (GRCm39) |
N250Y |
probably damaging |
Het |
| Cd300c2 |
T |
C |
11: 114,891,649 (GRCm39) |
E75G |
possibly damaging |
Het |
| Cdc23 |
A |
C |
18: 34,770,239 (GRCm39) |
|
probably benign |
Het |
| Cep97 |
A |
G |
16: 55,735,659 (GRCm39) |
S380P |
probably benign |
Het |
| Ckap5 |
T |
A |
2: 91,400,621 (GRCm39) |
|
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,960,061 (GRCm39) |
|
probably benign |
Het |
| Dclk1 |
G |
A |
3: 55,154,788 (GRCm39) |
V73M |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,961,754 (GRCm39) |
L2297P |
probably damaging |
Het |
| Eif2a |
A |
G |
3: 58,448,538 (GRCm39) |
I124V |
probably benign |
Het |
| Fam227b |
A |
T |
2: 125,960,951 (GRCm39) |
I226K |
probably benign |
Het |
| Fcgr1 |
G |
T |
3: 96,191,814 (GRCm39) |
Y331* |
probably null |
Het |
| Helq |
T |
C |
5: 100,944,793 (GRCm39) |
T106A |
possibly damaging |
Het |
| Ly9 |
A |
T |
1: 171,432,738 (GRCm39) |
Y92N |
probably benign |
Het |
| Myom1 |
G |
A |
17: 71,415,666 (GRCm39) |
C1256Y |
probably damaging |
Het |
| Ndc80 |
G |
A |
17: 71,827,920 (GRCm39) |
T104I |
probably benign |
Het |
| Or1x2 |
T |
A |
11: 50,918,557 (GRCm39) |
C243S |
probably damaging |
Het |
| Or2y1d |
A |
G |
11: 49,321,632 (GRCm39) |
T110A |
probably benign |
Het |
| Or51a8 |
T |
C |
7: 102,549,613 (GRCm39) |
F13S |
probably damaging |
Het |
| Or5e1 |
A |
T |
7: 108,355,003 (GRCm39) |
|
probably benign |
Het |
| Phtf2 |
T |
C |
5: 20,969,273 (GRCm39) |
N679S |
probably damaging |
Het |
| Polq |
G |
A |
16: 36,911,411 (GRCm39) |
R2382K |
probably benign |
Het |
| Recql4 |
C |
T |
15: 76,590,468 (GRCm39) |
R672Q |
probably benign |
Het |
| Selenbp2 |
A |
G |
3: 94,606,945 (GRCm39) |
N197S |
probably damaging |
Het |
| Slc12a2 |
T |
A |
18: 58,054,856 (GRCm39) |
D832E |
probably benign |
Het |
| Slc13a1 |
G |
A |
6: 24,118,002 (GRCm39) |
A245V |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,548,633 (GRCm39) |
D635G |
probably damaging |
Het |
| Utp18 |
T |
C |
11: 93,766,882 (GRCm39) |
Q275R |
probably damaging |
Het |
| Wdr35 |
A |
G |
12: 9,058,692 (GRCm39) |
|
probably null |
Het |
| Zfyve26 |
A |
G |
12: 79,342,338 (GRCm39) |
V36A |
probably damaging |
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 |
|
IGL02275:Sirpb1a
|
APN |
3 |
15,475,469 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02419:Sirpb1a
|
APN |
3 |
15,491,398 (GRCm39) |
missense |
probably benign |
|
|
IGL02657:Sirpb1a
|
APN |
3 |
15,482,111 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
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 |
2016-08-02 |
Incidental Mutation