Incidental Mutation 'IGL01521:Sirpb1a'
| ID |
90509 |
| 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 # |
IGL01521
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
15436887-15491487 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 15475561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 325
(M325L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096807
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099201]
[ENSMUST00000192700]
[ENSMUST00000194144]
|
| AlphaFold |
A0A0A6YYP6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099201
AA Change: M325L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000096807
Gene: ENSMUSG00000095788
AA Change: M325L
| 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 benign
Transcript: ENSMUST00000192700
AA Change: M325L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000141504
Gene: ENSMUSG00000095788
AA Change: M325L
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
A |
T |
8: 111,770,419 (GRCm39) |
I406F |
possibly damaging |
Het |
| Adgrb2 |
A |
G |
4: 129,886,085 (GRCm39) |
E75G |
probably damaging |
Het |
| Angptl2 |
T |
C |
2: 33,136,215 (GRCm39) |
Y467H |
probably damaging |
Het |
| Arap1 |
G |
T |
7: 101,049,812 (GRCm39) |
|
probably null |
Het |
| Arfgap1 |
G |
A |
2: 180,613,371 (GRCm39) |
C22Y |
probably damaging |
Het |
| Artn |
G |
A |
4: 117,784,484 (GRCm39) |
P25S |
probably damaging |
Het |
| Bicra |
G |
T |
7: 15,723,113 (GRCm39) |
Q135K |
probably benign |
Het |
| Clpx |
T |
C |
9: 65,226,026 (GRCm39) |
V367A |
probably damaging |
Het |
| Clstn3 |
C |
T |
6: 124,434,990 (GRCm39) |
W308* |
probably null |
Het |
| Cpb2 |
T |
A |
14: 75,495,071 (GRCm39) |
V67D |
probably damaging |
Het |
| Cyp2c38 |
A |
G |
19: 39,449,114 (GRCm39) |
Y80H |
probably damaging |
Het |
| Dbt |
A |
G |
3: 116,327,032 (GRCm39) |
D127G |
probably benign |
Het |
| Elp1 |
T |
A |
4: 56,771,059 (GRCm39) |
E961D |
probably benign |
Het |
| Fhod1 |
G |
A |
8: 106,057,055 (GRCm39) |
A973V |
probably benign |
Het |
| Flacc1 |
T |
G |
1: 58,709,553 (GRCm39) |
K201Q |
probably damaging |
Het |
| Focad |
A |
T |
4: 88,328,927 (GRCm39) |
*1713C |
probably null |
Het |
| Gemin5 |
A |
T |
11: 58,025,744 (GRCm39) |
|
probably benign |
Het |
| Gpr22 |
C |
T |
12: 31,758,709 (GRCm39) |
|
probably benign |
Het |
| Kif23 |
T |
A |
9: 61,827,182 (GRCm39) |
T890S |
probably damaging |
Het |
| Kmt5b |
T |
A |
19: 3,836,618 (GRCm39) |
S52T |
possibly damaging |
Het |
| Lipo3 |
A |
T |
19: 33,763,083 (GRCm39) |
D53E |
probably damaging |
Het |
| Lrrc14b |
G |
A |
13: 74,511,691 (GRCm39) |
R130C |
probably damaging |
Het |
| Myt1 |
T |
A |
2: 181,467,704 (GRCm39) |
I1046K |
probably damaging |
Het |
| Napsa |
A |
T |
7: 44,236,061 (GRCm39) |
I367F |
probably damaging |
Het |
| Or5aq1b |
C |
T |
2: 86,902,077 (GRCm39) |
V134I |
probably benign |
Het |
| Or8b56 |
A |
T |
9: 38,739,185 (GRCm39) |
Y66F |
probably damaging |
Het |
| Rgcc |
T |
G |
14: 79,538,185 (GRCm39) |
S69R |
probably damaging |
Het |
| Rin3 |
T |
A |
12: 102,335,307 (GRCm39) |
I326N |
probably benign |
Het |
| Sipa1 |
C |
A |
19: 5,711,006 (GRCm39) |
M1I |
probably null |
Het |
| Sult1a1 |
C |
A |
7: 126,274,451 (GRCm39) |
V71F |
possibly damaging |
Het |
| Tgds |
G |
T |
14: 118,350,506 (GRCm39) |
P349Q |
probably damaging |
Het |
| Tmem63c |
T |
A |
12: 87,115,918 (GRCm39) |
H186Q |
probably damaging |
Het |
| Trappc9 |
A |
G |
15: 72,924,016 (GRCm39) |
L242S |
probably damaging |
Het |
| Trip12 |
T |
A |
1: 84,743,919 (GRCm39) |
|
probably benign |
Het |
| Zfp451 |
T |
C |
1: 33,816,412 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
2013-12-09 |
Incidental Mutation