Incidental Mutation 'R4300:Sirpb1b'
| ID |
322363 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sirpb1b
|
| Ensembl Gene |
ENSMUSG00000095028 |
| Gene Name |
signal-regulatory protein beta 1B |
| Synonyms |
|
| MMRRC Submission |
041657-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R4300 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
15560814-15640127 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 15613821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 87
(I87K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142068
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091319]
[ENSMUST00000192382]
[ENSMUST00000195778]
|
| AlphaFold |
A0A0A6YXN8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091319
AA Change: I87K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000088869
Gene: ENSMUSG00000095028
AA Change: I87K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
23 |
N/A |
INTRINSIC |
|
IG
|
37 |
143 |
8.19e-9 |
SMART |
|
IGc1
|
163 |
236 |
1.22e-4 |
SMART |
|
IGc1
|
266 |
339 |
2.21e-5 |
SMART |
|
transmembrane domain
|
364 |
386 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000192382
AA Change: I87K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142068
Gene: ENSMUSG00000095028
AA Change: I87K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
IG
|
37 |
143 |
3.3e-11 |
SMART |
|
IGc1
|
163 |
236 |
5.1e-7 |
SMART |
|
Pfam:C2-set_2
|
251 |
340 |
1e-4 |
PFAM |
|
Pfam:Ig_2
|
251 |
348 |
2.7e-1 |
PFAM |
|
Pfam:C1-set
|
258 |
341 |
1.3e-13 |
PFAM |
|
transmembrane domain
|
370 |
392 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193767
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194767
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195778
|
| SMART Domains |
Protein: ENSMUSP00000141533
Gene: ENSMUSG00000095028
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ig_2
|
14 |
66 |
5.6e-1 |
PFAM |
|
Pfam:Ig_3
|
22 |
52 |
7.8e-3 |
PFAM |
|
Pfam:V-set
|
24 |
75 |
1.9e-7 |
PFAM |
|
IGc1
|
96 |
169 |
5.1e-7 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
T |
A |
3: 146,356,675 (GRCm39) |
R78* |
probably null |
Het |
| A2m |
G |
A |
6: 121,650,434 (GRCm39) |
V1181I |
probably benign |
Het |
| Cacna1b |
T |
C |
2: 24,525,251 (GRCm39) |
S1639G |
probably damaging |
Het |
| Ccs |
T |
C |
19: 4,884,285 (GRCm39) |
T56A |
probably benign |
Het |
| Cd177 |
T |
C |
7: 24,449,845 (GRCm39) |
I547V |
possibly damaging |
Het |
| Ckmt2 |
C |
A |
13: 92,011,457 (GRCm39) |
|
probably null |
Het |
| Cyth1 |
A |
G |
11: 118,074,720 (GRCm39) |
F180L |
probably damaging |
Het |
| Dip2c |
A |
G |
13: 9,660,747 (GRCm39) |
I840M |
probably damaging |
Het |
| Gm37150 |
G |
A |
9: 72,292,758 (GRCm39) |
|
noncoding transcript |
Het |
| Herc1 |
A |
G |
9: 66,396,688 (GRCm39) |
D4255G |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kcnn4 |
G |
T |
7: 24,077,029 (GRCm39) |
V193L |
probably benign |
Het |
| Lrrc8d |
G |
A |
5: 105,961,606 (GRCm39) |
R672Q |
probably damaging |
Het |
| Mboat2 |
A |
G |
12: 25,009,082 (GRCm39) |
N463D |
probably benign |
Het |
| Mtfr1 |
T |
A |
3: 19,269,621 (GRCm39) |
|
probably null |
Het |
| Or10g6 |
A |
C |
9: 39,934,435 (GRCm39) |
I249L |
probably benign |
Het |
| Or5h24 |
T |
C |
16: 58,918,641 (GRCm39) |
Y238C |
unknown |
Het |
| Pcnt |
G |
C |
10: 76,203,225 (GRCm39) |
R2626G |
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,226,671 (GRCm39) |
I1072T |
probably damaging |
Het |
| Prc1 |
G |
A |
7: 79,960,964 (GRCm39) |
|
probably benign |
Het |
| Psph |
G |
T |
5: 129,864,529 (GRCm39) |
|
probably null |
Het |
| Rfx4 |
T |
C |
10: 84,740,966 (GRCm39) |
Y601H |
probably damaging |
Het |
| Rmc1 |
A |
G |
18: 12,321,919 (GRCm39) |
N513D |
probably benign |
Het |
| Setd5 |
T |
G |
6: 113,127,123 (GRCm39) |
V1249G |
probably damaging |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Spata31 |
A |
T |
13: 65,067,575 (GRCm39) |
H79L |
probably benign |
Het |
| Srbd1 |
C |
A |
17: 86,292,632 (GRCm39) |
R979L |
probably damaging |
Het |
| Stox2 |
A |
T |
8: 47,647,027 (GRCm39) |
Y208* |
probably null |
Het |
| Sun1 |
A |
T |
5: 139,213,349 (GRCm39) |
|
probably benign |
Het |
| Tfap4 |
T |
C |
16: 4,369,224 (GRCm39) |
D132G |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Tubgcp3 |
G |
T |
8: 12,707,600 (GRCm39) |
P130T |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,703,673 (GRCm39) |
E277G |
probably damaging |
Het |
|
| Other mutations in Sirpb1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01384:Sirpb1b
|
APN |
3 |
15,613,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01662:Sirpb1b
|
APN |
3 |
15,608,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02025:Sirpb1b
|
APN |
3 |
15,613,863 (GRCm39) |
missense |
probably damaging |
0.99 |
|
F5770:Sirpb1b
|
UTSW |
3 |
15,568,243 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0419:Sirpb1b
|
UTSW |
3 |
15,613,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1538:Sirpb1b
|
UTSW |
3 |
15,613,819 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3935:Sirpb1b
|
UTSW |
3 |
15,613,843 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4373:Sirpb1b
|
UTSW |
3 |
15,613,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4953:Sirpb1b
|
UTSW |
3 |
15,613,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5425:Sirpb1b
|
UTSW |
3 |
15,613,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6340:Sirpb1b
|
UTSW |
3 |
15,613,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6357:Sirpb1b
|
UTSW |
3 |
15,568,243 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6723:Sirpb1b
|
UTSW |
3 |
15,613,858 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7152:Sirpb1b
|
UTSW |
3 |
15,607,230 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7390:Sirpb1b
|
UTSW |
3 |
15,608,100 (GRCm39) |
nonsense |
probably null |
|
|
R7411:Sirpb1b
|
UTSW |
3 |
15,608,057 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7513:Sirpb1b
|
UTSW |
3 |
15,607,200 (GRCm39) |
nonsense |
probably null |
|
|
R7526:Sirpb1b
|
UTSW |
3 |
15,613,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8352:Sirpb1b
|
UTSW |
3 |
15,607,410 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8452:Sirpb1b
|
UTSW |
3 |
15,607,410 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8794:Sirpb1b
|
UTSW |
3 |
15,613,843 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9165:Sirpb1b
|
UTSW |
3 |
15,639,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9793:Sirpb1b
|
UTSW |
3 |
15,640,074 (GRCm39) |
unclassified |
probably benign |
|
|
V7583:Sirpb1b
|
UTSW |
3 |
15,568,243 (GRCm39) |
missense |
probably benign |
0.25 |
|
Z1177:Sirpb1b
|
UTSW |
3 |
15,640,001 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGTCTTCAGACCTGTAGGAG -3'
(R):5'- GAGCTGAAGGTGATCCAACC -3'
Sequencing Primer
(F):5'- TCTTCAGACCTGTAGGAGAAATG -3'
(R):5'- CTGAAGGTGATCCAACCTGTTAAATC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation