Incidental Mutation 'IGL01678:Sirpb1a'
| ID |
103696 |
| 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: 0.057)
|
| Stock # |
IGL01678
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
15436887-15491487 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 15476370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 142
(S142R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141659
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099201]
[ENSMUST00000192700]
[ENSMUST00000194144]
|
| AlphaFold |
A0A0A6YYP6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099201
AA Change: S209R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096807
Gene: ENSMUSG00000095788
AA Change: S209R
| 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: S209R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141504
Gene: ENSMUSG00000095788
AA Change: S209R
| 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 damaging
Transcript: ENSMUST00000194144
AA Change: S142R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141659
Gene: ENSMUSG00000095788
AA Change: S142R
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
A |
T |
4: 144,504,443 (GRCm39) |
M236K |
probably benign |
Het |
| Abcc1 |
T |
A |
16: 14,222,883 (GRCm39) |
M186K |
probably null |
Het |
| Adamts3 |
T |
C |
5: 89,855,715 (GRCm39) |
N385S |
probably damaging |
Het |
| Adamts6 |
T |
C |
13: 104,450,196 (GRCm39) |
V299A |
probably damaging |
Het |
| Angel1 |
T |
C |
12: 86,763,800 (GRCm39) |
E500G |
probably benign |
Het |
| Car9 |
T |
C |
4: 43,512,941 (GRCm39) |
|
probably benign |
Het |
| Colec11 |
A |
G |
12: 28,644,867 (GRCm39) |
F209S |
probably damaging |
Het |
| Dnaaf10 |
T |
C |
11: 17,182,790 (GRCm39) |
V317A |
probably benign |
Het |
| Dock10 |
A |
G |
1: 80,521,069 (GRCm39) |
Y1179H |
probably damaging |
Het |
| Ece1 |
T |
A |
4: 137,690,044 (GRCm39) |
W697R |
probably damaging |
Het |
| Eml2 |
T |
A |
7: 18,920,047 (GRCm39) |
M117K |
probably benign |
Het |
| Flii |
G |
T |
11: 60,607,672 (GRCm39) |
|
probably benign |
Het |
| Frmpd1 |
T |
A |
4: 45,243,717 (GRCm39) |
D63E |
probably damaging |
Het |
| Ftmt |
A |
T |
18: 52,465,206 (GRCm39) |
H174L |
probably damaging |
Het |
| Gpr37l1 |
A |
G |
1: 135,094,791 (GRCm39) |
V151A |
probably damaging |
Het |
| Inppl1 |
T |
C |
7: 101,481,803 (GRCm39) |
T180A |
probably benign |
Het |
| Klhdc4 |
T |
C |
8: 122,523,677 (GRCm39) |
D513G |
possibly damaging |
Het |
| Klrb1a |
A |
G |
6: 128,595,411 (GRCm39) |
|
probably benign |
Het |
| Nit1 |
A |
G |
1: 171,170,262 (GRCm39) |
V270A |
probably damaging |
Het |
| Or6c5 |
A |
C |
10: 129,074,537 (GRCm39) |
D173A |
possibly damaging |
Het |
| Phox2b |
T |
A |
5: 67,256,262 (GRCm39) |
Y8F |
probably damaging |
Het |
| Psg20 |
T |
A |
7: 18,414,795 (GRCm39) |
S364C |
probably damaging |
Het |
| Rab38 |
T |
A |
7: 88,079,740 (GRCm39) |
V44E |
probably damaging |
Het |
| Rapgef4 |
T |
C |
2: 72,072,569 (GRCm39) |
|
probably benign |
Het |
| Ror1 |
C |
T |
4: 100,283,165 (GRCm39) |
P410L |
possibly damaging |
Het |
| Rptn |
A |
G |
3: 93,304,118 (GRCm39) |
N484D |
probably benign |
Het |
| Smox |
G |
A |
2: 131,353,979 (GRCm39) |
R17H |
possibly damaging |
Het |
| Top6bl |
T |
A |
19: 4,722,193 (GRCm39) |
I76L |
possibly damaging |
Het |
| Trpm7 |
A |
T |
2: 126,658,719 (GRCm39) |
C1146S |
probably damaging |
Het |
| Upf3a |
C |
T |
8: 13,841,930 (GRCm39) |
A155V |
probably benign |
Het |
| Vmn1r212 |
A |
T |
13: 23,068,081 (GRCm39) |
V84D |
probably damaging |
Het |
| Vmn2r40 |
T |
C |
7: 8,923,105 (GRCm39) |
N419D |
probably damaging |
Het |
| Zfp143 |
C |
A |
7: 109,679,558 (GRCm39) |
|
probably benign |
Het |
| Zmat4 |
T |
A |
8: 24,392,064 (GRCm39) |
C7S |
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 |
|
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 |
2014-01-21 |
Incidental Mutation