Incidental Mutation 'R6699:F830045P16Rik'
ID |
528674 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
F830045P16Rik
|
Ensembl Gene |
ENSMUSG00000043727 |
Gene Name |
RIKEN cDNA F830045P16 gene |
Synonyms |
Sirpb3 |
MMRRC Submission |
044817-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R6699 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
129300279-129378522 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 129302341 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 417
(D417G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058047
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050309]
|
AlphaFold |
Q8BJ95 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050309
AA Change: D417G
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000058047 Gene: ENSMUSG00000043727 AA Change: D417G
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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
Validation Efficiency |
100% (35/35) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam39 |
A |
G |
8: 41,279,694 (GRCm39) |
K695R |
probably benign |
Het |
Agfg1 |
G |
A |
1: 82,836,175 (GRCm39) |
|
probably null |
Het |
Ankrd44 |
G |
A |
1: 54,801,604 (GRCm39) |
T241I |
probably damaging |
Het |
Car15 |
T |
C |
16: 17,654,438 (GRCm39) |
D166G |
probably null |
Het |
Cpne2 |
G |
A |
8: 95,290,587 (GRCm39) |
V391M |
probably damaging |
Het |
Ddx27 |
C |
T |
2: 166,862,423 (GRCm39) |
T155I |
possibly damaging |
Het |
Fam217b |
T |
G |
2: 178,062,210 (GRCm39) |
M58R |
probably benign |
Het |
Fcgbpl1 |
A |
G |
7: 27,843,793 (GRCm39) |
T894A |
probably damaging |
Het |
Ftmt |
T |
C |
18: 52,464,737 (GRCm39) |
S18P |
possibly damaging |
Het |
Gm16494 |
C |
T |
17: 47,327,834 (GRCm39) |
V17M |
probably damaging |
Het |
Gm36864 |
A |
T |
7: 43,888,196 (GRCm39) |
I342F |
possibly damaging |
Het |
Grid2 |
C |
G |
6: 63,908,031 (GRCm39) |
R224G |
possibly damaging |
Het |
H4c12 |
A |
T |
13: 21,934,674 (GRCm39) |
M1K |
probably null |
Het |
Hmgcr |
T |
C |
13: 96,796,717 (GRCm39) |
E191G |
probably damaging |
Het |
Hrc |
A |
G |
7: 44,985,119 (GRCm39) |
D90G |
possibly damaging |
Het |
Kbtbd7 |
A |
G |
14: 79,665,632 (GRCm39) |
E488G |
probably benign |
Het |
Krtap26-1 |
T |
C |
16: 88,444,603 (GRCm39) |
N6S |
unknown |
Het |
Mgat2 |
A |
G |
12: 69,231,555 (GRCm39) |
D43G |
probably damaging |
Het |
Mrps30 |
A |
T |
13: 118,517,134 (GRCm39) |
S362T |
probably damaging |
Het |
Or10ag58 |
A |
T |
2: 87,265,160 (GRCm39) |
I110F |
probably benign |
Het |
Or2t43 |
T |
A |
11: 58,458,031 (GRCm39) |
I47L |
possibly damaging |
Het |
Pcdhb11 |
T |
A |
18: 37,555,990 (GRCm39) |
V440E |
probably damaging |
Het |
Pcdhb18 |
T |
A |
18: 37,625,005 (GRCm39) |
H778Q |
probably benign |
Het |
Plekha7 |
T |
C |
7: 115,734,410 (GRCm39) |
E1025G |
probably damaging |
Het |
Rnf39 |
T |
C |
17: 37,258,121 (GRCm39) |
W96R |
probably damaging |
Het |
Rph3al |
A |
T |
11: 75,791,663 (GRCm39) |
|
probably benign |
Het |
Rrm1 |
T |
A |
7: 102,110,032 (GRCm39) |
Y556N |
probably damaging |
Het |
Saal1 |
A |
T |
7: 46,342,241 (GRCm39) |
C401S |
probably damaging |
Het |
Sec14l3 |
T |
C |
11: 4,025,193 (GRCm39) |
S268P |
possibly damaging |
Het |
Tmem54 |
A |
G |
4: 129,005,118 (GRCm39) |
I199M |
probably benign |
Het |
Tomm70a |
A |
G |
16: 56,963,165 (GRCm39) |
M395V |
probably benign |
Het |
Topors |
A |
G |
4: 40,262,300 (GRCm39) |
V328A |
probably damaging |
Het |
Vmn2r61 |
T |
G |
7: 41,949,580 (GRCm39) |
S667A |
probably benign |
Het |
Vmn2r68 |
G |
A |
7: 84,881,583 (GRCm39) |
A499V |
possibly damaging |
Het |
Zcchc14 |
A |
T |
8: 122,335,355 (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 |
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 |
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 |
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'- TCTATGGAAGAAACCTCAAGACTCC -3'
(R):5'- TGACTGTCACTTGCCATGTG -3'
Sequencing Primer
(F):5'- CCTTAGAGTCTTCTGAAATGCAGC -3'
(R):5'- ATGTGCAGAGATTCTATCCCCAGG -3'
|
Posted On |
2018-07-24 |