Incidental Mutation 'R0356:Sirpb1c'
ID |
29816 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sirpb1c
|
Ensembl Gene |
ENSMUSG00000074677 |
Gene Name |
signal-regulatory protein beta 1C |
Synonyms |
|
MMRRC Submission |
038562-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R0356 (G1)
|
Quality Score |
224 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
15849311-15902694 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 15887309 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 175
(N175D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103986
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050623]
[ENSMUST00000108349]
[ENSMUST00000108350]
[ENSMUST00000108352]
[ENSMUST00000108354]
|
AlphaFold |
K7N6K7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050623
AA Change: N177D
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000061216 Gene: ENSMUSG00000074677 AA Change: N177D
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 |
possibly damaging
Transcript: ENSMUST00000108349
AA Change: N175D
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000103986 Gene: ENSMUSG00000074677 AA Change: N175D
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: N177D
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000103987 Gene: ENSMUSG00000074677 AA Change: N177D
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 |
probably benign
Transcript: ENSMUST00000108352
AA Change: N177D
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000103989 Gene: ENSMUSG00000074677 AA Change: N177D
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 |
possibly damaging
Transcript: ENSMUST00000108354
AA Change: N177D
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000103991 Gene: ENSMUSG00000074677 AA Change: N177D
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 |
unknown
Transcript: ENSMUST00000148194
AA Change: N45D
|
SMART Domains |
Protein: ENSMUSP00000120527 Gene: ENSMUSG00000074677 AA Change: N45D
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
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.6%
- 10x: 94.4%
- 20x: 86.1%
|
Validation Efficiency |
100% (47/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9430097D07Rik |
T |
C |
2: 32,464,418 (GRCm39) |
|
probably benign |
Het |
Adgrg6 |
C |
T |
10: 14,302,642 (GRCm39) |
V924M |
possibly damaging |
Het |
Anxa9 |
A |
G |
3: 95,215,387 (GRCm39) |
|
probably benign |
Het |
Ap3d1 |
G |
T |
10: 80,563,812 (GRCm39) |
S122R |
probably damaging |
Het |
Arhgap5 |
T |
C |
12: 52,563,091 (GRCm39) |
S21P |
probably damaging |
Het |
Atp13a5 |
A |
G |
16: 29,167,573 (GRCm39) |
|
probably benign |
Het |
AU040320 |
A |
T |
4: 126,731,155 (GRCm39) |
D618V |
probably damaging |
Het |
Cbfa2t2 |
T |
A |
2: 154,373,269 (GRCm39) |
D475E |
probably benign |
Het |
Ccdc202 |
T |
A |
14: 96,119,801 (GRCm39) |
V186E |
possibly damaging |
Het |
Ccdc62 |
G |
A |
5: 124,092,811 (GRCm39) |
V599I |
probably benign |
Het |
Cenpj |
T |
C |
14: 56,786,953 (GRCm39) |
E917G |
probably damaging |
Het |
Cog5 |
T |
C |
12: 31,887,180 (GRCm39) |
|
probably benign |
Het |
Col9a1 |
T |
A |
1: 24,224,328 (GRCm39) |
L170* |
probably null |
Het |
Daxx |
T |
A |
17: 34,132,867 (GRCm39) |
V627D |
probably benign |
Het |
Dnah9 |
A |
G |
11: 66,021,388 (GRCm39) |
|
probably null |
Het |
Drg2 |
T |
A |
11: 60,352,407 (GRCm39) |
V203E |
probably damaging |
Het |
Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
Fer1l4 |
T |
C |
2: 155,865,930 (GRCm39) |
Y1586C |
probably damaging |
Het |
Gp6 |
A |
T |
7: 4,373,141 (GRCm39) |
|
probably benign |
Het |
Hhip |
T |
C |
8: 80,724,121 (GRCm39) |
I374V |
probably benign |
Het |
Hspa12b |
G |
T |
2: 130,986,719 (GRCm39) |
V547L |
possibly damaging |
Het |
Iars1 |
G |
A |
13: 49,856,709 (GRCm39) |
V321I |
probably benign |
Het |
Itga8 |
T |
C |
2: 12,187,532 (GRCm39) |
M716V |
possibly damaging |
Het |
Lcn5 |
T |
C |
2: 25,550,705 (GRCm39) |
I131T |
probably damaging |
Het |
Mki67 |
G |
A |
7: 135,306,135 (GRCm39) |
T614M |
probably benign |
Het |
Mmp3 |
G |
A |
9: 7,451,768 (GRCm39) |
E369K |
probably benign |
Het |
Myt1l |
A |
G |
12: 29,861,500 (GRCm39) |
D94G |
unknown |
Het |
Neil1 |
T |
C |
9: 57,054,180 (GRCm39) |
I47V |
possibly damaging |
Het |
Nr5a2 |
T |
C |
1: 136,773,430 (GRCm39) |
N424S |
possibly damaging |
Het |
Or1e21 |
A |
T |
11: 73,344,906 (GRCm39) |
I44N |
possibly damaging |
Het |
Or51f5 |
A |
T |
7: 102,424,286 (GRCm39) |
D185V |
probably damaging |
Het |
Or5b120 |
A |
G |
19: 13,480,441 (GRCm39) |
T245A |
possibly damaging |
Het |
Or7e166 |
G |
T |
9: 19,624,743 (GRCm39) |
G207C |
probably damaging |
Het |
Pakap |
C |
A |
4: 57,855,628 (GRCm39) |
T360K |
possibly damaging |
Het |
Pde8b |
G |
T |
13: 95,182,962 (GRCm39) |
N265K |
probably damaging |
Het |
Prpf40b |
T |
C |
15: 99,203,080 (GRCm39) |
|
probably null |
Het |
Samd9l |
T |
C |
6: 3,375,107 (GRCm39) |
D718G |
possibly damaging |
Het |
Srgap1 |
A |
T |
10: 121,691,441 (GRCm39) |
|
probably null |
Het |
Tgm5 |
T |
A |
2: 120,884,055 (GRCm39) |
T313S |
probably damaging |
Het |
Tigar |
A |
G |
6: 127,068,145 (GRCm39) |
|
probably null |
Het |
Tmprss11b |
A |
G |
5: 86,808,326 (GRCm39) |
*417Q |
probably null |
Het |
Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
Ttll11 |
T |
C |
2: 35,792,688 (GRCm39) |
D385G |
possibly damaging |
Het |
Zfp426 |
T |
C |
9: 20,382,541 (GRCm39) |
T135A |
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 |
R0094:Sirpb1c
|
UTSW |
3 |
15,892,922 (GRCm39) |
missense |
possibly damaging |
0.73 |
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'- TGAGAGGGGCTCGATCTAAAGTGAC -3'
(R):5'- TGCCTGGTAACAACAATCCTGACAG -3'
Sequencing Primer
(F):5'- GCTCGATCTAAAGTGACATGATCC -3'
(R):5'- TGGTAACAACAATCCTGACAGTAAAC -3'
|
Posted On |
2013-04-24 |