Incidental Mutation 'R0094:Sirpb1c'
| ID |
67055 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sirpb1c
|
| Ensembl Gene |
ENSMUSG00000074677 |
| Gene Name |
signal-regulatory protein beta 1C |
| Synonyms |
|
| MMRRC Submission |
038380-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R0094 (G1)
|
| Quality Score |
87 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
15849311-15902694 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 15892922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 94
(T94K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061216
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050623]
[ENSMUST00000108349]
[ENSMUST00000108350]
[ENSMUST00000108352]
[ENSMUST00000108354]
|
| AlphaFold |
K7N6K7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050623
AA Change: T94K
PolyPhen 2
Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000061216
Gene: ENSMUSG00000074677
AA Change: T94K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
IG
|
37 |
143 |
3.51e-8 |
SMART |
|
IGc1
|
163 |
236 |
4.07e-4 |
SMART |
|
IGc1
|
266 |
339 |
2.21e-5 |
SMART |
|
transmembrane domain
|
364 |
386 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108349
AA Change: T92K
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000103986
Gene: ENSMUSG00000074677
AA Change: T92K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
23 |
N/A |
INTRINSIC |
|
IG
|
35 |
141 |
3.51e-8 |
SMART |
|
IGc1
|
161 |
234 |
4.07e-4 |
SMART |
|
IGc1
|
264 |
337 |
2.21e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108350
AA Change: T94K
PolyPhen 2
Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103987
Gene: ENSMUSG00000074677
AA Change: T94K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
IG
|
37 |
143 |
3.51e-8 |
SMART |
|
IGc1
|
163 |
236 |
4.07e-4 |
SMART |
|
IGc1
|
266 |
339 |
2.21e-5 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108352
AA Change: T94K
PolyPhen 2
Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103989
Gene: ENSMUSG00000074677
AA Change: T94K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
IG
|
37 |
143 |
3.51e-8 |
SMART |
|
IGc1
|
163 |
236 |
4.07e-4 |
SMART |
|
IGc1
|
266 |
339 |
2.21e-5 |
SMART |
|
transmembrane domain
|
370 |
392 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108354
AA Change: T94K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000103991
Gene: ENSMUSG00000074677
AA Change: T94K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
IG
|
37 |
143 |
3.51e-8 |
SMART |
|
IGc1
|
163 |
236 |
4.07e-4 |
SMART |
|
IGc1
|
266 |
339 |
2.21e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124067
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148194
|
| SMART Domains |
Protein: ENSMUSP00000120527
Gene: ENSMUSG00000074677
| Domain | Start | End | E-Value | Type |
|---|
|
IGc1
|
32 |
105 |
4.07e-4 |
SMART |
|
IGc1
|
135 |
208 |
2.21e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191802
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
T |
A |
9: 46,218,184 (GRCm39) |
T185S |
possibly damaging |
Het |
| Amotl1 |
A |
G |
9: 14,486,683 (GRCm39) |
S441P |
probably benign |
Het |
| Ap5z1 |
G |
A |
5: 142,462,567 (GRCm39) |
V626M |
probably benign |
Het |
| Cacna2d3 |
C |
T |
14: 28,892,460 (GRCm39) |
|
probably null |
Het |
| Cfap77 |
A |
T |
2: 28,874,446 (GRCm39) |
V128D |
probably damaging |
Het |
| Colgalt1 |
T |
C |
8: 72,075,802 (GRCm39) |
V483A |
probably damaging |
Het |
| Dcdc2b |
T |
C |
4: 129,504,104 (GRCm39) |
|
probably null |
Het |
| Dsg2 |
A |
T |
18: 20,724,910 (GRCm39) |
T439S |
probably benign |
Het |
| Dtx1 |
A |
G |
5: 120,820,689 (GRCm39) |
Y455H |
probably damaging |
Het |
| Frmpd1 |
C |
A |
4: 45,284,899 (GRCm39) |
S1240* |
probably null |
Het |
| Gypa |
T |
A |
8: 81,227,560 (GRCm39) |
H69Q |
unknown |
Het |
| Mfap5 |
G |
A |
6: 122,502,951 (GRCm39) |
V54I |
probably damaging |
Het |
| Mroh7 |
C |
T |
4: 106,560,381 (GRCm39) |
G641E |
probably damaging |
Het |
| Mvd |
C |
T |
8: 123,166,442 (GRCm39) |
R65H |
probably benign |
Het |
| Or14c40 |
A |
G |
7: 86,313,502 (GRCm39) |
S211G |
probably benign |
Het |
| Pigs |
T |
A |
11: 78,230,864 (GRCm39) |
N370K |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,800,250 (GRCm39) |
T3004A |
possibly damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,279,470 (GRCm39) |
R2949S |
probably damaging |
Het |
| Ptpro |
T |
C |
6: 137,363,350 (GRCm39) |
Y495H |
probably benign |
Het |
| Rfc4 |
G |
T |
16: 22,934,178 (GRCm39) |
Q208K |
probably benign |
Het |
| Rpa2 |
T |
C |
4: 132,497,893 (GRCm39) |
S52P |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,828,770 (GRCm39) |
N1136K |
probably damaging |
Het |
| Spp2 |
T |
A |
1: 88,348,402 (GRCm39) |
|
probably null |
Het |
| Ubr3 |
C |
T |
2: 69,781,706 (GRCm39) |
T628I |
probably damaging |
Het |
| Vmn1r213 |
A |
G |
13: 23,195,819 (GRCm39) |
H134R |
probably damaging |
Het |
| Vmn2r59 |
T |
C |
7: 41,661,722 (GRCm39) |
R698G |
probably benign |
Het |
|
| Other mutations in Sirpb1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01963:Sirpb1c
|
APN |
3 |
15,892,937 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0356:Sirpb1c
|
UTSW |
3 |
15,887,309 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0442:Sirpb1c
|
UTSW |
3 |
15,856,710 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3731:Sirpb1c
|
UTSW |
3 |
15,887,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4812:Sirpb1c
|
UTSW |
3 |
15,887,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5802:Sirpb1c
|
UTSW |
3 |
15,886,240 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6315:Sirpb1c
|
UTSW |
3 |
15,886,470 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7107:Sirpb1c
|
UTSW |
3 |
15,892,941 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7148:Sirpb1c
|
UTSW |
3 |
15,887,223 (GRCm39) |
nonsense |
probably null |
|
|
R7349:Sirpb1c
|
UTSW |
3 |
15,886,310 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7356:Sirpb1c
|
UTSW |
3 |
15,886,297 (GRCm39) |
missense |
probably benign |
|
|
R7359:Sirpb1c
|
UTSW |
3 |
15,887,389 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7466:Sirpb1c
|
UTSW |
3 |
15,886,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7629:Sirpb1c
|
UTSW |
3 |
15,902,559 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7720:Sirpb1c
|
UTSW |
3 |
15,886,236 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7726:Sirpb1c
|
UTSW |
3 |
15,902,550 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7853:Sirpb1c
|
UTSW |
3 |
15,887,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7886:Sirpb1c
|
UTSW |
3 |
15,886,366 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8519:Sirpb1c
|
UTSW |
3 |
15,902,526 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8847:Sirpb1c
|
UTSW |
3 |
15,886,584 (GRCm39) |
nonsense |
probably null |
|
|
R8854:Sirpb1c
|
UTSW |
3 |
15,887,308 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGAAACCTCTAGCACATAGCACG -3'
(R):5'- GAGAGCTGAAGGTGATCCAACCTG -3'
Sequencing Primer
(F):5'- CAGAGTATTAGAGCCTTCGGACC -3'
(R):5'- CTGAAGGTGATCCAACCTGTTAAATC -3'
|
| Posted On |
2013-08-20 |
Incidental Mutation