Incidental Mutation 'IGL02154:Sirpb1a'
| ID |
282150 |
| 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 # |
IGL02154
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
15436887-15491487 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15475504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 344
(T344A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141504
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099201]
[ENSMUST00000192700]
[ENSMUST00000194144]
|
| AlphaFold |
A0A0A6YYP6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099201
AA Change: T344A
PolyPhen 2
Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000096807
Gene: ENSMUSG00000095788
AA Change: T344A
| 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 damaging
Transcript: ENSMUST00000192700
AA Change: T344A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000141504
Gene: ENSMUSG00000095788
AA Change: T344A
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armc3 |
G |
A |
2: 19,290,948 (GRCm39) |
|
probably null |
Het |
| Armh4 |
G |
A |
14: 50,010,399 (GRCm39) |
T436I |
possibly damaging |
Het |
| AW551984 |
G |
A |
9: 39,500,398 (GRCm39) |
R787C |
possibly damaging |
Het |
| Cadm1 |
A |
T |
9: 47,725,201 (GRCm39) |
I321L |
probably benign |
Het |
| Cfap57 |
A |
G |
4: 118,470,214 (GRCm39) |
L222P |
probably damaging |
Het |
| Cox20 |
A |
G |
1: 178,150,119 (GRCm39) |
I98V |
probably benign |
Het |
| Dmrta1 |
A |
G |
4: 89,580,150 (GRCm39) |
N370S |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 118,015,087 (GRCm39) |
F386L |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,320,559 (GRCm39) |
I1323V |
probably benign |
Het |
| Fndc3b |
A |
G |
3: 27,592,266 (GRCm39) |
S211P |
probably damaging |
Het |
| Galnt10 |
T |
G |
11: 57,675,531 (GRCm39) |
L597V |
probably damaging |
Het |
| Gtf2e2 |
T |
C |
8: 34,245,989 (GRCm39) |
|
probably null |
Het |
| Inpp4b |
T |
A |
8: 82,696,130 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
T |
G |
6: 145,083,967 (GRCm39) |
M44R |
possibly damaging |
Het |
| Lacc1 |
A |
G |
14: 77,270,727 (GRCm39) |
V269A |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,740,395 (GRCm39) |
D3750G |
probably benign |
Het |
| Mme |
A |
T |
3: 63,250,976 (GRCm39) |
Q339L |
probably benign |
Het |
| Mmp3 |
A |
T |
9: 7,453,662 (GRCm39) |
I428L |
probably benign |
Het |
| Myrf |
A |
T |
19: 10,193,482 (GRCm39) |
I558N |
probably damaging |
Het |
| Or52e8 |
C |
T |
7: 104,625,188 (GRCm39) |
M1I |
probably null |
Het |
| Phb1 |
A |
G |
11: 95,565,997 (GRCm39) |
I94V |
possibly damaging |
Het |
| Prg4 |
T |
A |
1: 150,330,613 (GRCm39) |
|
probably benign |
Het |
| Skap2 |
T |
C |
6: 51,989,308 (GRCm39) |
|
probably benign |
Het |
| Slc29a1 |
A |
G |
17: 45,897,089 (GRCm39) |
I399T |
probably damaging |
Het |
| Sorl1 |
C |
T |
9: 41,915,330 (GRCm39) |
V1300I |
probably benign |
Het |
| Tas2r117 |
T |
C |
6: 132,780,678 (GRCm39) |
V272A |
probably benign |
Het |
| Tctn2 |
C |
A |
5: 124,746,624 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem51 |
T |
C |
4: 141,759,089 (GRCm39) |
N220D |
probably damaging |
Het |
| Trak2 |
T |
C |
1: 58,947,888 (GRCm39) |
D584G |
probably damaging |
Het |
| Vmn1r78 |
A |
G |
7: 11,886,472 (GRCm39) |
I28V |
probably benign |
Het |
| Vmn2r95 |
A |
C |
17: 18,672,248 (GRCm39) |
I662L |
probably benign |
Het |
| Vwa8 |
C |
A |
14: 79,086,733 (GRCm39) |
R4S |
possibly 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 |
|
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 |
2015-04-16 |
Incidental Mutation