Incidental Mutation 'R4009:F830045P16Rik'
ID |
311589 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
F830045P16Rik
|
Ensembl Gene |
ENSMUSG00000043727 |
Gene Name |
RIKEN cDNA F830045P16 gene |
Synonyms |
Sirpb3 |
MMRRC Submission |
040846-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R4009 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
129300279-129378522 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 129305467 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 302
(N302K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058047
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050309]
|
AlphaFold |
Q8BJ95 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050309
AA Change: N302K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000058047 Gene: ENSMUSG00000043727 AA Change: N302K
Domain | Start | End | E-Value | Type |
IG_like
|
51 |
123 |
7.95e-2 |
SMART |
IGc1
|
156 |
227 |
5.66e-4 |
SMART |
Pfam:C2-set_2
|
264 |
331 |
1.6e-6 |
PFAM |
IGc1
|
359 |
432 |
2.28e-7 |
SMART |
transmembrane domain
|
460 |
482 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
A |
T |
11: 109,980,933 (GRCm39) |
L35Q |
probably damaging |
Het |
Acss2 |
T |
A |
2: 155,399,548 (GRCm39) |
L529Q |
probably damaging |
Het |
Apc2 |
T |
A |
10: 80,149,426 (GRCm39) |
D1464E |
probably benign |
Het |
Atp8a2 |
A |
G |
14: 60,265,434 (GRCm39) |
S301P |
possibly damaging |
Het |
Cntln |
A |
G |
4: 84,981,452 (GRCm39) |
T877A |
probably benign |
Het |
Cntn6 |
T |
C |
6: 104,810,783 (GRCm39) |
I537T |
probably damaging |
Het |
Cyp2d12 |
T |
G |
15: 82,440,493 (GRCm39) |
L94R |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,564,164 (GRCm39) |
L1965P |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,510,148 (GRCm39) |
N1560S |
probably damaging |
Het |
Fxr1 |
G |
T |
3: 34,119,171 (GRCm39) |
R580L |
probably benign |
Het |
Gm5592 |
G |
T |
7: 40,938,934 (GRCm39) |
V739L |
probably benign |
Het |
Gna13 |
A |
G |
11: 109,286,843 (GRCm39) |
D222G |
probably damaging |
Het |
Grm7 |
T |
A |
6: 111,472,683 (GRCm39) |
Y841N |
probably damaging |
Het |
Kat2b |
G |
A |
17: 53,951,769 (GRCm39) |
|
probably null |
Het |
Kcng4 |
A |
G |
8: 120,352,824 (GRCm39) |
V362A |
probably damaging |
Het |
Kcnh1 |
T |
A |
1: 191,959,448 (GRCm39) |
I334N |
probably benign |
Het |
Mapkbp1 |
T |
C |
2: 119,854,086 (GRCm39) |
S1222P |
probably benign |
Het |
Or10a3m |
A |
T |
7: 108,313,366 (GRCm39) |
I269L |
probably benign |
Het |
Or10ag57 |
A |
T |
2: 87,218,924 (GRCm39) |
I292F |
possibly damaging |
Het |
Or11g26 |
T |
C |
14: 50,753,419 (GRCm39) |
S253P |
possibly damaging |
Het |
Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
Pik3cb |
A |
G |
9: 98,922,982 (GRCm39) |
Y1017H |
probably damaging |
Het |
Plpp5 |
A |
G |
8: 26,210,338 (GRCm39) |
E36G |
probably damaging |
Het |
Pnma8a |
A |
T |
7: 16,695,301 (GRCm39) |
K385N |
probably damaging |
Het |
Ptprd |
T |
G |
4: 75,874,634 (GRCm39) |
M1272L |
possibly damaging |
Het |
Rad51ap2 |
A |
G |
12: 11,507,052 (GRCm39) |
I325V |
probably benign |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Skint4 |
T |
C |
4: 111,977,306 (GRCm39) |
V232A |
possibly damaging |
Het |
Slc30a5 |
G |
A |
13: 100,945,741 (GRCm39) |
A537V |
probably damaging |
Het |
Tcerg1 |
CAATTGAAAA |
CAA |
18: 42,697,201 (GRCm39) |
|
probably null |
Het |
Tenm3 |
C |
A |
8: 48,802,258 (GRCm39) |
K162N |
probably damaging |
Het |
Vmn2r44 |
T |
A |
7: 8,380,987 (GRCm39) |
Q302L |
possibly damaging |
Het |
Zfp618 |
G |
A |
4: 63,051,801 (GRCm39) |
A861T |
probably benign |
Het |
|
Other mutations in F830045P16Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00339:F830045P16Rik
|
APN |
2 |
129,302,449 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01149:F830045P16Rik
|
APN |
2 |
129,302,232 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01556:F830045P16Rik
|
APN |
2 |
129,305,640 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01690:F830045P16Rik
|
APN |
2 |
129,314,614 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02169:F830045P16Rik
|
APN |
2 |
129,305,492 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03194:F830045P16Rik
|
APN |
2 |
129,302,240 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL03231:F830045P16Rik
|
APN |
2 |
129,302,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R0062:F830045P16Rik
|
UTSW |
2 |
129,305,624 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0062:F830045P16Rik
|
UTSW |
2 |
129,305,624 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0234:F830045P16Rik
|
UTSW |
2 |
129,305,384 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0234:F830045P16Rik
|
UTSW |
2 |
129,305,384 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0333:F830045P16Rik
|
UTSW |
2 |
129,314,777 (GRCm39) |
missense |
probably damaging |
0.96 |
R0479:F830045P16Rik
|
UTSW |
2 |
129,314,608 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0550:F830045P16Rik
|
UTSW |
2 |
129,305,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R0827:F830045P16Rik
|
UTSW |
2 |
129,314,696 (GRCm39) |
missense |
probably benign |
0.01 |
R1087:F830045P16Rik
|
UTSW |
2 |
129,314,639 (GRCm39) |
missense |
possibly damaging |
0.55 |
R1142:F830045P16Rik
|
UTSW |
2 |
129,302,252 (GRCm39) |
nonsense |
probably null |
|
R1642:F830045P16Rik
|
UTSW |
2 |
129,305,634 (GRCm39) |
missense |
probably benign |
0.00 |
R2022:F830045P16Rik
|
UTSW |
2 |
129,314,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R2044:F830045P16Rik
|
UTSW |
2 |
129,301,317 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4008:F830045P16Rik
|
UTSW |
2 |
129,305,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R4011:F830045P16Rik
|
UTSW |
2 |
129,305,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R4212:F830045P16Rik
|
UTSW |
2 |
129,302,273 (GRCm39) |
missense |
probably benign |
0.00 |
R4579:F830045P16Rik
|
UTSW |
2 |
129,305,423 (GRCm39) |
missense |
probably damaging |
0.97 |
R4838:F830045P16Rik
|
UTSW |
2 |
129,302,470 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5190:F830045P16Rik
|
UTSW |
2 |
129,314,635 (GRCm39) |
missense |
probably benign |
0.01 |
R5217:F830045P16Rik
|
UTSW |
2 |
129,305,493 (GRCm39) |
missense |
probably damaging |
1.00 |
R5297:F830045P16Rik
|
UTSW |
2 |
129,302,473 (GRCm39) |
missense |
probably benign |
0.10 |
R5352:F830045P16Rik
|
UTSW |
2 |
129,314,821 (GRCm39) |
missense |
probably damaging |
0.98 |
R6063:F830045P16Rik
|
UTSW |
2 |
129,316,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R6072:F830045P16Rik
|
UTSW |
2 |
129,314,614 (GRCm39) |
missense |
probably damaging |
1.00 |
R6173:F830045P16Rik
|
UTSW |
2 |
129,305,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R6383:F830045P16Rik
|
UTSW |
2 |
129,378,358 (GRCm39) |
missense |
probably benign |
0.04 |
R6386:F830045P16Rik
|
UTSW |
2 |
129,314,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R6425:F830045P16Rik
|
UTSW |
2 |
129,302,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R6699:F830045P16Rik
|
UTSW |
2 |
129,302,341 (GRCm39) |
missense |
probably damaging |
0.98 |
R6869:F830045P16Rik
|
UTSW |
2 |
129,316,481 (GRCm39) |
missense |
probably damaging |
0.99 |
R7751:F830045P16Rik
|
UTSW |
2 |
129,302,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R8012:F830045P16Rik
|
UTSW |
2 |
129,316,352 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8097:F830045P16Rik
|
UTSW |
2 |
129,305,505 (GRCm39) |
missense |
possibly damaging |
0.55 |
R8982:F830045P16Rik
|
UTSW |
2 |
129,314,812 (GRCm39) |
missense |
probably damaging |
0.98 |
R9143:F830045P16Rik
|
UTSW |
2 |
129,316,502 (GRCm39) |
missense |
probably benign |
0.00 |
R9179:F830045P16Rik
|
UTSW |
2 |
129,314,708 (GRCm39) |
missense |
probably benign |
|
R9280:F830045P16Rik
|
UTSW |
2 |
129,314,774 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:F830045P16Rik
|
UTSW |
2 |
129,378,450 (GRCm39) |
start gained |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACCAACTAAGGCCATTTCAGTG -3'
(R):5'- CTTCTTGCAGGAAGGACAGAG -3'
Sequencing Primer
(F):5'- CTAAGGCCATTTCAGTGAATAAACC -3'
(R):5'- CTTCTTGCAGGAAGGACAGAGTATTC -3'
|
Posted On |
2015-04-29 |