Incidental Mutation 'R5190:F830045P16Rik'
| ID |
398035 |
| 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: 0.059)
|
| Stock # |
R5190 (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 129314635 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 214
(D214G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058047
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050309]
|
| AlphaFold |
Q8BJ95 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050309
AA Change: D214G
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000058047
Gene: ENSMUSG00000043727
AA Change: D214G
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Abca7 |
T |
C |
10: 79,835,427 (GRCm39) |
|
probably null |
Het |
| Abca8a |
C |
T |
11: 109,980,735 (GRCm39) |
|
probably null |
Het |
| Ablim3 |
A |
G |
18: 61,952,982 (GRCm39) |
Y361H |
probably benign |
Het |
| Acan |
C |
T |
7: 78,748,289 (GRCm39) |
T1020I |
probably benign |
Het |
| Baat |
A |
G |
4: 49,499,652 (GRCm39) |
L218P |
probably damaging |
Het |
| Bcl11b |
C |
A |
12: 107,955,975 (GRCm39) |
C58F |
probably damaging |
Het |
| Cand2 |
G |
T |
6: 115,766,474 (GRCm39) |
A360S |
probably damaging |
Het |
| Cdh2 |
A |
G |
18: 16,783,372 (GRCm39) |
V62A |
possibly damaging |
Het |
| Cep44 |
C |
T |
8: 56,985,831 (GRCm39) |
V354I |
probably benign |
Het |
| Col3a1 |
G |
A |
1: 45,368,244 (GRCm39) |
R309Q |
unknown |
Het |
| Col3a1 |
G |
A |
1: 45,383,967 (GRCm39) |
|
probably benign |
Het |
| Coq5 |
A |
G |
5: 115,433,839 (GRCm39) |
|
probably null |
Het |
| Crtac1 |
A |
G |
19: 42,322,347 (GRCm39) |
I131T |
possibly damaging |
Het |
| Decr1 |
C |
T |
4: 15,924,270 (GRCm39) |
V217M |
probably damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,051,724 (GRCm39) |
V1706A |
probably benign |
Het |
| Dop1a |
A |
G |
9: 86,369,357 (GRCm39) |
I63M |
probably damaging |
Het |
| Fam216a |
T |
A |
5: 122,505,584 (GRCm39) |
|
probably null |
Het |
| Fdxacb1 |
A |
C |
9: 50,683,387 (GRCm39) |
H248P |
possibly damaging |
Het |
| Gnai1 |
A |
T |
5: 18,496,596 (GRCm39) |
V109E |
probably benign |
Het |
| Helz2 |
A |
T |
2: 180,872,550 (GRCm39) |
|
probably null |
Het |
| Itgam |
T |
C |
7: 127,715,489 (GRCm39) |
|
probably null |
Het |
| Kcnh1 |
A |
G |
1: 192,187,836 (GRCm39) |
S766G |
probably benign |
Het |
| Klra1 |
C |
A |
6: 130,352,241 (GRCm39) |
C167F |
probably damaging |
Het |
| Krtap9-3 |
T |
A |
11: 99,488,808 (GRCm39) |
T25S |
probably benign |
Het |
| Mapk6 |
T |
C |
9: 75,295,626 (GRCm39) |
Y624C |
probably damaging |
Het |
| Or10ag2 |
A |
G |
2: 87,249,187 (GRCm39) |
Y263C |
probably damaging |
Het |
| Or1ad8 |
T |
G |
11: 50,898,381 (GRCm39) |
I194S |
probably damaging |
Het |
| Or2y1g |
T |
C |
11: 49,171,209 (GRCm39) |
V78A |
probably damaging |
Het |
| Or52e4 |
C |
T |
7: 104,705,660 (GRCm39) |
S69L |
probably damaging |
Het |
| Or9m2 |
T |
A |
2: 87,821,107 (GRCm39) |
Y217* |
probably null |
Het |
| P3h2 |
A |
G |
16: 25,803,699 (GRCm39) |
S356P |
possibly damaging |
Het |
| Pde12 |
C |
T |
14: 26,387,532 (GRCm39) |
|
probably null |
Het |
| Rln3 |
T |
G |
8: 84,769,866 (GRCm39) |
K94N |
probably damaging |
Het |
| Skint5 |
T |
C |
4: 113,620,711 (GRCm39) |
I668V |
unknown |
Het |
| Slitrk5 |
C |
A |
14: 111,916,852 (GRCm39) |
Q159K |
probably damaging |
Het |
| Trim3 |
G |
T |
7: 105,268,716 (GRCm39) |
N79K |
probably damaging |
Het |
| Tyw1 |
T |
A |
5: 130,296,756 (GRCm39) |
C101* |
probably null |
Het |
| Ulk2 |
T |
C |
11: 61,672,537 (GRCm39) |
T934A |
probably benign |
Het |
| Unc5b |
T |
C |
10: 60,608,072 (GRCm39) |
Y687C |
probably benign |
Het |
| Vmn1r195 |
C |
T |
13: 22,462,556 (GRCm39) |
R9* |
probably null |
Het |
| Zfc3h1 |
T |
G |
10: 115,254,597 (GRCm39) |
L1397R |
probably damaging |
Het |
| Zfp296 |
T |
C |
7: 19,311,332 (GRCm39) |
V9A |
probably benign |
Het |
| Zfp423 |
T |
A |
8: 88,509,091 (GRCm39) |
S397C |
probably damaging |
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 |
|
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 |
|
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'- AGTGGGAGTGGCTCTTCAAG -3'
(R):5'- CCAGAGATCCAAGATCATGTGC -3'
Sequencing Primer
(F):5'- AGAGCATCCTCTCTGGGAAG -3'
(R):5'- GTGCATCAAAAAGTGAACCTGACTTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation