Incidental Mutation 'R3935:Sirpb1b'
| ID |
307123 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sirpb1b
|
| Ensembl Gene |
ENSMUSG00000095028 |
| Gene Name |
signal-regulatory protein beta 1B |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R3935 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
15560814-15640127 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 15613843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 80
(T80S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091319]
[ENSMUST00000192382]
[ENSMUST00000195778]
|
| AlphaFold |
A0A0A6YXN8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091319
AA Change: T80S
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000088869
Gene: ENSMUSG00000095028
AA Change: T80S
| 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 benign
Transcript: ENSMUST00000192382
AA Change: T80S
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000142068
Gene: ENSMUSG00000095028
AA Change: T80S
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arx |
T |
A |
X: 92,340,975 (GRCm39) |
L554Q |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,743,105 (GRCm39) |
V1622A |
possibly damaging |
Het |
| Bbof1 |
A |
G |
12: 84,457,984 (GRCm39) |
D83G |
probably damaging |
Het |
| Ccdc47 |
T |
C |
11: 106,092,823 (GRCm39) |
|
probably benign |
Het |
| Clstn3 |
G |
A |
6: 124,434,901 (GRCm39) |
T338I |
probably damaging |
Het |
| Dsc1 |
T |
A |
18: 20,230,298 (GRCm39) |
T336S |
probably benign |
Het |
| Elk3 |
A |
G |
10: 93,101,035 (GRCm39) |
S239P |
possibly damaging |
Het |
| Fbll1 |
T |
A |
11: 35,688,475 (GRCm39) |
I263F |
probably damaging |
Het |
| Fbxw8 |
T |
G |
5: 118,233,783 (GRCm39) |
I283L |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,774,824 (GRCm39) |
F133L |
probably benign |
Het |
| Gpr176 |
A |
G |
2: 118,109,777 (GRCm39) |
V494A |
probably benign |
Het |
| Gpr85 |
A |
G |
6: 13,836,044 (GRCm39) |
F287L |
probably benign |
Het |
| Hoxd11 |
A |
G |
2: 74,514,376 (GRCm39) |
N302S |
probably benign |
Het |
| Iqgap1 |
T |
G |
7: 80,393,585 (GRCm39) |
Y664S |
possibly damaging |
Het |
| Kansl1 |
A |
T |
11: 104,234,369 (GRCm39) |
D712E |
possibly damaging |
Het |
| Kif1b |
T |
C |
4: 149,321,617 (GRCm39) |
N1101D |
probably benign |
Het |
| Kyat1 |
A |
G |
2: 30,075,761 (GRCm39) |
L376P |
probably damaging |
Het |
| Lztr1 |
T |
A |
16: 17,340,059 (GRCm39) |
Y93* |
probably null |
Het |
| Nrip1 |
A |
G |
16: 76,091,323 (GRCm39) |
M78T |
possibly damaging |
Het |
| P4hb |
A |
C |
11: 120,453,235 (GRCm39) |
H440Q |
probably benign |
Het |
| Pbsn |
T |
C |
X: 76,891,702 (GRCm39) |
T32A |
probably damaging |
Het |
| Prg4 |
A |
G |
1: 150,333,908 (GRCm39) |
I152T |
possibly damaging |
Het |
| Prss36 |
A |
G |
7: 127,533,780 (GRCm39) |
L8P |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 17,177,150 (GRCm39) |
V2930A |
probably damaging |
Het |
| Ptchd4 |
G |
C |
17: 42,814,380 (GRCm39) |
L760F |
possibly damaging |
Het |
| Rbms3 |
A |
G |
9: 116,465,459 (GRCm39) |
L163P |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,158,120 (GRCm39) |
I418V |
probably damaging |
Het |
| Sf3a1 |
T |
A |
11: 4,130,024 (GRCm39) |
|
probably null |
Het |
| Slc16a7 |
C |
A |
10: 125,066,712 (GRCm39) |
R309L |
probably damaging |
Het |
| Slc35f1 |
C |
T |
10: 52,984,314 (GRCm39) |
T358I |
probably damaging |
Het |
| Slmap |
T |
C |
14: 26,180,570 (GRCm39) |
E411G |
probably benign |
Het |
| Ssu72 |
C |
T |
4: 155,789,876 (GRCm39) |
S13L |
probably benign |
Het |
| Sult2b1 |
C |
T |
7: 45,391,640 (GRCm39) |
V49M |
probably benign |
Het |
| Tmem80 |
T |
C |
7: 140,913,938 (GRCm39) |
Y30H |
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 |
|
R4300:Sirpb1b
|
UTSW |
3 |
15,613,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGACAACTCAGTGCCACCTC -3'
(R):5'- AAACTTGAGAAACCTGTGGTTC -3'
Sequencing Primer
(F):5'- TCAGTGCCACCTCCAGACTG -3'
(R):5'- CTTGAGAAACCTGTGGTTCTACATC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation