Incidental Mutation 'R0333:F830045P16Rik'
ID |
38324 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
F830045P16Rik
|
Ensembl Gene |
ENSMUSG00000043727 |
Gene Name |
RIKEN cDNA F830045P16 gene |
Synonyms |
Sirpb3 |
MMRRC Submission |
038542-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R0333 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
129300279-129378522 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 129314777 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 167
(Y167H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058047
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050309]
|
AlphaFold |
Q8BJ95 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050309
AA Change: Y167H
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000058047 Gene: ENSMUSG00000043727 AA Change: Y167H
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: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
Validation Efficiency |
100% (53/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alas1 |
T |
C |
9: 106,118,480 (GRCm39) |
N214S |
probably benign |
Het |
Antxr1 |
A |
G |
6: 87,165,820 (GRCm39) |
|
probably benign |
Het |
Atxn7l3 |
A |
T |
11: 102,185,818 (GRCm39) |
|
probably null |
Het |
Cab39l |
A |
G |
14: 59,737,060 (GRCm39) |
E60G |
probably damaging |
Het |
Cdc5l |
G |
T |
17: 45,704,142 (GRCm39) |
|
probably benign |
Het |
Cux2 |
T |
C |
5: 121,998,671 (GRCm39) |
E1423G |
probably benign |
Het |
Dbndd1 |
G |
T |
8: 124,233,512 (GRCm39) |
Q165K |
probably damaging |
Het |
Drd1 |
C |
A |
13: 54,208,082 (GRCm39) |
C37F |
probably damaging |
Het |
Elp3 |
G |
A |
14: 65,828,042 (GRCm39) |
P11L |
probably benign |
Het |
Gimap3 |
G |
A |
6: 48,742,664 (GRCm39) |
Q89* |
probably null |
Het |
H2ac25 |
C |
A |
11: 58,845,685 (GRCm39) |
S41* |
probably null |
Het |
Herc1 |
G |
A |
9: 66,371,981 (GRCm39) |
|
probably null |
Het |
Ipo11 |
A |
G |
13: 107,007,271 (GRCm39) |
V603A |
probably benign |
Het |
Kifap3 |
G |
A |
1: 163,624,833 (GRCm39) |
A130T |
probably damaging |
Het |
Klhl23 |
A |
G |
2: 69,664,241 (GRCm39) |
Y530C |
probably damaging |
Het |
Map4k1 |
C |
T |
7: 28,699,186 (GRCm39) |
|
probably benign |
Het |
Mroh2b |
T |
A |
15: 4,960,600 (GRCm39) |
L778M |
probably damaging |
Het |
Mtdh |
T |
C |
15: 34,118,247 (GRCm39) |
S344P |
possibly damaging |
Het |
Ncoa3 |
T |
G |
2: 165,896,211 (GRCm39) |
N371K |
probably damaging |
Het |
Ncor2 |
C |
A |
5: 125,111,408 (GRCm39) |
|
probably benign |
Het |
Nrn1l |
A |
G |
8: 106,621,052 (GRCm39) |
E48G |
probably benign |
Het |
Nudcd1 |
A |
G |
15: 44,264,683 (GRCm39) |
I271T |
probably benign |
Het |
Or1e17 |
A |
T |
11: 73,831,593 (GRCm39) |
I174F |
possibly damaging |
Het |
Or2t1 |
T |
C |
14: 14,328,498 (GRCm38) |
L129P |
probably damaging |
Het |
Pard3b |
A |
G |
1: 62,269,371 (GRCm39) |
N653S |
probably benign |
Het |
Plekhg1 |
A |
C |
10: 3,914,419 (GRCm39) |
K1380N |
probably damaging |
Het |
Ppara |
T |
A |
15: 85,675,161 (GRCm39) |
I210N |
probably damaging |
Het |
Ppp2r5b |
A |
G |
19: 6,279,077 (GRCm39) |
|
probably benign |
Het |
Prkn |
T |
C |
17: 11,286,027 (GRCm39) |
F6L |
probably damaging |
Het |
Prr14l |
A |
G |
5: 32,985,337 (GRCm39) |
L1386P |
probably damaging |
Het |
Ralgapa1 |
A |
G |
12: 55,829,685 (GRCm39) |
|
probably benign |
Het |
Reln |
A |
T |
5: 22,134,240 (GRCm39) |
L2563I |
probably damaging |
Het |
Rps7 |
A |
G |
12: 28,681,200 (GRCm39) |
|
probably benign |
Het |
Rslcan18 |
T |
C |
13: 67,246,686 (GRCm39) |
K309E |
probably damaging |
Het |
Sec14l5 |
C |
T |
16: 4,984,930 (GRCm39) |
T92M |
probably damaging |
Het |
Slc22a8 |
G |
A |
19: 8,585,514 (GRCm39) |
|
probably benign |
Het |
Smad2 |
G |
A |
18: 76,395,692 (GRCm39) |
A44T |
probably damaging |
Het |
Smcr8 |
T |
C |
11: 60,671,048 (GRCm39) |
V732A |
possibly damaging |
Het |
Spata2l |
A |
G |
8: 123,960,371 (GRCm39) |
F306S |
probably damaging |
Het |
Stab2 |
T |
C |
10: 86,677,491 (GRCm39) |
D2552G |
probably benign |
Het |
Tctn3 |
A |
T |
19: 40,595,711 (GRCm39) |
L358H |
possibly damaging |
Het |
Tk2 |
C |
T |
8: 104,975,146 (GRCm39) |
|
probably benign |
Het |
Tm6sf2 |
C |
T |
8: 70,530,564 (GRCm39) |
R215C |
probably damaging |
Het |
Tmbim6 |
T |
C |
15: 99,304,555 (GRCm39) |
I204T |
probably damaging |
Het |
Tubgcp2 |
C |
A |
7: 139,579,260 (GRCm39) |
W675C |
probably damaging |
Het |
Usp48 |
T |
A |
4: 137,321,794 (GRCm39) |
I62N |
probably damaging |
Het |
Vmn2r74 |
T |
C |
7: 85,601,491 (GRCm39) |
T716A |
probably benign |
Het |
Vps13b |
C |
A |
15: 35,879,949 (GRCm39) |
T3008K |
probably damaging |
Het |
Wnk1 |
G |
A |
6: 119,905,124 (GRCm39) |
|
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 |
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 |
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'- TTTAGCCACAATGCCCTGAGGAC -3'
(R):5'- ATCTGAGTGACCCTGAGACAGGTG -3'
Sequencing Primer
(F):5'- GGAAACAAGGCACTTACCTCTG -3'
(R):5'- CCCTGAGACAGGTGGATAAGTC -3'
|
Posted On |
2013-05-23 |