Incidental Mutation 'R1087:F830045P16Rik'
ID |
85058 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
F830045P16Rik
|
Ensembl Gene |
ENSMUSG00000043727 |
Gene Name |
RIKEN cDNA F830045P16 gene |
Synonyms |
Sirpb3 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R1087 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
129300279-129378522 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 129314639 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 213
(T213A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058047
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050309]
|
AlphaFold |
Q8BJ95 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050309
AA Change: T213A
PolyPhen 2
Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000058047 Gene: ENSMUSG00000043727 AA Change: T213A
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 |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anxa11 |
A |
G |
14: 25,870,603 (GRCm39) |
M56V |
unknown |
Het |
Arid4a |
G |
A |
12: 71,122,112 (GRCm39) |
S509N |
probably benign |
Het |
Atp8b3 |
T |
C |
10: 80,356,017 (GRCm39) |
R1232G |
probably benign |
Het |
Axdnd1 |
T |
A |
1: 156,193,259 (GRCm39) |
M643L |
probably benign |
Het |
Bsph1 |
A |
G |
7: 13,206,106 (GRCm39) |
Y57C |
probably damaging |
Het |
Car13 |
G |
A |
3: 14,706,885 (GRCm39) |
W6* |
probably null |
Het |
Ccdc192 |
T |
C |
18: 57,863,870 (GRCm39) |
S225P |
probably damaging |
Het |
Ccng2 |
T |
C |
5: 93,421,303 (GRCm39) |
I271T |
probably benign |
Het |
Ces1f |
T |
A |
8: 93,984,923 (GRCm39) |
D468V |
probably damaging |
Het |
Chil4 |
A |
G |
3: 106,117,881 (GRCm39) |
Y130H |
probably benign |
Het |
Clns1a |
T |
A |
7: 97,354,862 (GRCm39) |
H69Q |
possibly damaging |
Het |
Cnot11 |
T |
A |
1: 39,579,139 (GRCm39) |
S335T |
probably benign |
Het |
Dcaf11 |
A |
G |
14: 55,806,581 (GRCm39) |
S461G |
probably damaging |
Het |
Dlst |
G |
A |
12: 85,179,413 (GRCm39) |
M417I |
probably damaging |
Het |
Dock4 |
A |
C |
12: 40,779,937 (GRCm39) |
I612L |
probably benign |
Het |
Endod1 |
A |
G |
9: 14,268,489 (GRCm39) |
V332A |
possibly damaging |
Het |
Gm5773 |
A |
T |
3: 93,681,065 (GRCm39) |
I246F |
probably damaging |
Het |
Gml2 |
T |
A |
15: 74,695,946 (GRCm39) |
D113E |
possibly damaging |
Het |
Grik1 |
T |
C |
16: 87,803,265 (GRCm39) |
E309G |
probably benign |
Het |
Hectd1 |
A |
T |
12: 51,823,355 (GRCm39) |
I1013K |
probably damaging |
Het |
Kcmf1 |
T |
C |
6: 72,835,863 (GRCm39) |
E22G |
probably damaging |
Het |
Kdm5b |
T |
A |
1: 134,528,375 (GRCm39) |
C361S |
probably damaging |
Het |
Kif21b |
T |
C |
1: 136,090,561 (GRCm39) |
S1150P |
probably damaging |
Het |
Man2b1 |
G |
A |
8: 85,821,800 (GRCm39) |
V701M |
probably damaging |
Het |
Marchf10 |
T |
C |
11: 105,281,488 (GRCm39) |
R266G |
probably damaging |
Het |
Milr1 |
A |
G |
11: 106,645,848 (GRCm39) |
Y130C |
probably damaging |
Het |
Nampt |
A |
G |
12: 32,883,042 (GRCm39) |
T76A |
possibly damaging |
Het |
Nek10 |
A |
G |
14: 14,827,059 (GRCm38) |
N86D |
possibly damaging |
Het |
Nms |
T |
G |
1: 38,983,192 (GRCm39) |
|
probably null |
Het |
Or10w1 |
T |
A |
19: 13,632,376 (GRCm39) |
C194* |
probably null |
Het |
Parp14 |
A |
G |
16: 35,678,658 (GRCm39) |
S437P |
probably damaging |
Het |
Pif1 |
A |
G |
9: 65,496,377 (GRCm39) |
M226V |
probably benign |
Het |
Rnf169 |
T |
C |
7: 99,592,204 (GRCm39) |
R216G |
probably benign |
Het |
Rorb |
T |
C |
19: 18,937,778 (GRCm39) |
K307R |
probably damaging |
Het |
Scube2 |
T |
C |
7: 109,430,882 (GRCm39) |
D439G |
probably damaging |
Het |
Serpinb8 |
T |
C |
1: 107,534,727 (GRCm39) |
V266A |
probably damaging |
Het |
Strip2 |
A |
G |
6: 29,927,633 (GRCm39) |
E226G |
probably damaging |
Het |
Trim23 |
A |
G |
13: 104,324,618 (GRCm39) |
D212G |
possibly damaging |
Het |
Vmn1r172 |
T |
A |
7: 23,359,673 (GRCm39) |
V186D |
possibly damaging |
Het |
Vwde |
A |
T |
6: 13,186,803 (GRCm39) |
C895S |
probably damaging |
Het |
Zswim8 |
C |
A |
14: 20,767,933 (GRCm39) |
|
probably null |
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 |
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 |
R4009: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'- CATACAGTGGGAGTGGCTCTTCAAG -3'
(R):5'- GACCCAGAGATCCAAGATCATGTGC -3'
Sequencing Primer
(F):5'- CAAGAGCATCCTCTCTGGGAAG -3'
(R):5'- TGTGCATCAAAAAGTGAACCTGAC -3'
|
Posted On |
2013-11-18 |