Incidental Mutation 'R0409:Birc2'
ID |
36520 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Birc2
|
Ensembl Gene |
ENSMUSG00000057367 |
Gene Name |
baculoviral IAP repeat-containing 2 |
Synonyms |
cIAP1, Api1, HIAP1, cIAP-1, MIAP1, mcIAP1, MIHB, IAP1 |
MMRRC Submission |
038611-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.906)
|
Stock # |
R0409 (G1)
|
Quality Score |
176 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
7818228-7837065 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 7819385 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 509
(V509G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140049
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074246]
[ENSMUST00000190341]
|
AlphaFold |
Q62210 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074246
AA Change: V509G
PolyPhen 2
Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000091422 Gene: ENSMUSG00000057367 AA Change: V509G
Domain | Start | End | E-Value | Type |
BIR
|
44 |
115 |
4.06e-33 |
SMART |
BIR
|
175 |
245 |
4.25e-36 |
SMART |
BIR
|
260 |
331 |
2.24e-35 |
SMART |
low complexity region
|
432 |
446 |
N/A |
INTRINSIC |
CARD
|
447 |
535 |
1.64e-20 |
SMART |
low complexity region
|
552 |
563 |
N/A |
INTRINSIC |
RING
|
565 |
599 |
1.65e-5 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190341
AA Change: V509G
PolyPhen 2
Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000140049 Gene: ENSMUSG00000057367 AA Change: V509G
Domain | Start | End | E-Value | Type |
BIR
|
44 |
115 |
4.06e-33 |
SMART |
BIR
|
175 |
245 |
4.25e-36 |
SMART |
BIR
|
260 |
331 |
2.24e-35 |
SMART |
low complexity region
|
432 |
446 |
N/A |
INTRINSIC |
CARD
|
447 |
535 |
1.64e-20 |
SMART |
low complexity region
|
552 |
563 |
N/A |
INTRINSIC |
RING
|
565 |
599 |
1.65e-5 |
SMART |
|
Meta Mutation Damage Score |
0.3222 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.8%
|
Validation Efficiency |
100% (55/55) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of a family of proteins that inhibits apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. This encoded protein inhibits apoptosis induced by serum deprivation and menadione, a potent inducer of free radicals. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] PHENOTYPE: Homozygous null mice showed a modest reduction in the number of lymphocytes. Mice homozygous for a knock-in allele exhibit increased T cell poliferation and IFNG secretion in response to anti-CD3 stimulation. [provided by MGI curators]
|
Allele List at MGI |
All alleles(4) : Targeted, knock-out(2) Gene trapped(2)
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
G |
T |
10: 87,061,816 (GRCm39) |
A89S |
probably damaging |
Het |
Alkbh3 |
T |
A |
2: 93,831,793 (GRCm39) |
I146F |
possibly damaging |
Het |
Aox1 |
A |
T |
1: 58,375,783 (GRCm39) |
I871F |
possibly damaging |
Het |
Car7 |
G |
A |
8: 105,275,056 (GRCm39) |
A165T |
probably damaging |
Het |
Ccdc81 |
A |
G |
7: 89,535,423 (GRCm39) |
V271A |
probably benign |
Het |
Cdc40 |
G |
T |
10: 40,723,164 (GRCm39) |
H302N |
probably damaging |
Het |
Cep104 |
C |
T |
4: 154,067,510 (GRCm39) |
|
probably benign |
Het |
Cfap54 |
C |
A |
10: 92,612,075 (GRCm39) |
S3161I |
probably benign |
Het |
Chil5 |
A |
G |
3: 105,942,282 (GRCm39) |
|
probably benign |
Het |
Chil6 |
C |
T |
3: 106,311,492 (GRCm39) |
G96D |
probably benign |
Het |
Cnot1 |
T |
C |
8: 96,475,483 (GRCm39) |
K531E |
probably damaging |
Het |
Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
Disp3 |
T |
G |
4: 148,356,416 (GRCm39) |
E148A |
probably damaging |
Het |
Eps8l2 |
A |
G |
7: 140,922,893 (GRCm39) |
Y52C |
probably damaging |
Het |
Exph5 |
C |
A |
9: 53,285,643 (GRCm39) |
T908K |
probably benign |
Het |
Fat4 |
C |
T |
3: 39,031,562 (GRCm39) |
S2449F |
probably damaging |
Het |
Faxc |
T |
A |
4: 21,948,751 (GRCm39) |
N154K |
probably benign |
Het |
Fbxo43 |
C |
T |
15: 36,162,503 (GRCm39) |
A235T |
probably benign |
Het |
Fnip1 |
A |
G |
11: 54,371,180 (GRCm39) |
|
probably null |
Het |
Fsd1l |
T |
C |
4: 53,679,932 (GRCm39) |
L210P |
probably benign |
Het |
Gm6420 |
A |
C |
1: 23,295,119 (GRCm39) |
S123R |
unknown |
Het |
Gm8801 |
T |
G |
17: 36,258,268 (GRCm39) |
|
noncoding transcript |
Het |
Gmfb |
T |
C |
14: 47,053,679 (GRCm39) |
I36V |
probably benign |
Het |
Gsap |
G |
A |
5: 21,427,443 (GRCm39) |
|
probably benign |
Het |
Hectd1 |
T |
A |
12: 51,829,339 (GRCm39) |
I969L |
possibly damaging |
Het |
Il21r |
G |
T |
7: 125,229,012 (GRCm39) |
|
probably benign |
Het |
Lrrc7 |
A |
G |
3: 157,867,063 (GRCm39) |
F893L |
possibly damaging |
Het |
Map2 |
A |
G |
1: 66,472,739 (GRCm39) |
I1715V |
probably damaging |
Het |
Mlh3 |
A |
G |
12: 85,287,628 (GRCm39) |
I1339T |
possibly damaging |
Het |
Nacad |
T |
C |
11: 6,549,810 (GRCm39) |
D1127G |
probably benign |
Het |
Noc3l |
A |
G |
19: 38,806,371 (GRCm39) |
|
probably benign |
Het |
Nup93 |
A |
G |
8: 95,030,293 (GRCm39) |
D384G |
probably damaging |
Het |
Or5m9b |
T |
A |
2: 85,905,646 (GRCm39) |
C187* |
probably null |
Het |
Or5p54 |
T |
C |
7: 107,554,433 (GRCm39) |
I195T |
probably benign |
Het |
Or8b40 |
C |
T |
9: 38,027,547 (GRCm39) |
L152F |
probably benign |
Het |
Pls1 |
A |
T |
9: 95,668,972 (GRCm39) |
|
probably benign |
Het |
Prkcb |
A |
T |
7: 122,024,200 (GRCm39) |
H75L |
probably damaging |
Het |
Rev1 |
A |
T |
1: 38,113,449 (GRCm39) |
Y539* |
probably null |
Het |
Rnf10 |
A |
T |
5: 115,393,506 (GRCm39) |
|
probably benign |
Het |
Rnpepl1 |
A |
G |
1: 92,843,582 (GRCm39) |
Y234C |
probably damaging |
Het |
Sdk2 |
T |
C |
11: 113,741,717 (GRCm39) |
|
probably benign |
Het |
Sec23b |
T |
A |
2: 144,409,832 (GRCm39) |
M240K |
probably benign |
Het |
Sema5a |
A |
T |
15: 32,681,755 (GRCm39) |
N945Y |
probably damaging |
Het |
Snapc4 |
C |
A |
2: 26,257,228 (GRCm39) |
R799L |
probably benign |
Het |
Spata31g1 |
A |
C |
4: 42,972,203 (GRCm39) |
K512T |
probably damaging |
Het |
Tctn3 |
T |
C |
19: 40,599,860 (GRCm39) |
|
probably benign |
Het |
Tex56 |
A |
T |
13: 35,108,532 (GRCm39) |
I5L |
probably benign |
Het |
Tfpt |
G |
A |
7: 3,623,898 (GRCm39) |
Q50* |
probably null |
Het |
Trim80 |
T |
C |
11: 115,332,039 (GRCm39) |
V77A |
probably damaging |
Het |
Trp73 |
T |
A |
4: 154,148,841 (GRCm39) |
D256V |
possibly damaging |
Het |
Utrn |
G |
T |
10: 12,519,345 (GRCm39) |
N2202K |
probably benign |
Het |
Vps13c |
T |
A |
9: 67,858,926 (GRCm39) |
F2792Y |
probably benign |
Het |
|
Other mutations in Birc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00909:Birc2
|
APN |
9 |
7,833,666 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00972:Birc2
|
APN |
9 |
7,833,716 (GRCm39) |
missense |
probably benign |
0.36 |
IGL01329:Birc2
|
APN |
9 |
7,860,733 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02852:Birc2
|
APN |
9 |
7,854,484 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02888:Birc2
|
APN |
9 |
7,819,559 (GRCm39) |
missense |
probably benign |
0.22 |
IGL03135:Birc2
|
APN |
9 |
7,849,722 (GRCm39) |
splice site |
probably benign |
|
IGL03399:Birc2
|
APN |
9 |
7,821,088 (GRCm39) |
missense |
probably damaging |
1.00 |
1mM(1):Birc2
|
UTSW |
9 |
7,819,409 (GRCm39) |
missense |
probably damaging |
0.98 |
R0478:Birc2
|
UTSW |
9 |
7,860,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R0905:Birc2
|
UTSW |
9 |
7,851,052 (GRCm39) |
makesense |
probably null |
|
R1617:Birc2
|
UTSW |
9 |
7,826,952 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1864:Birc2
|
UTSW |
9 |
7,819,518 (GRCm39) |
missense |
probably benign |
0.06 |
R1934:Birc2
|
UTSW |
9 |
7,854,500 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2005:Birc2
|
UTSW |
9 |
7,860,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R2156:Birc2
|
UTSW |
9 |
7,826,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R2519:Birc2
|
UTSW |
9 |
7,821,180 (GRCm39) |
missense |
possibly damaging |
0.46 |
R2867:Birc2
|
UTSW |
9 |
7,834,478 (GRCm39) |
start codon destroyed |
probably null |
0.08 |
R2867:Birc2
|
UTSW |
9 |
7,834,478 (GRCm39) |
start codon destroyed |
probably null |
0.08 |
R3019:Birc2
|
UTSW |
9 |
7,857,390 (GRCm39) |
critical splice donor site |
probably null |
|
R4028:Birc2
|
UTSW |
9 |
7,819,352 (GRCm39) |
missense |
probably benign |
0.01 |
R4169:Birc2
|
UTSW |
9 |
7,849,684 (GRCm39) |
missense |
possibly damaging |
0.78 |
R4243:Birc2
|
UTSW |
9 |
7,834,386 (GRCm39) |
missense |
probably benign |
0.00 |
R4250:Birc2
|
UTSW |
9 |
7,818,936 (GRCm39) |
missense |
probably benign |
0.00 |
R4584:Birc2
|
UTSW |
9 |
7,833,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R4952:Birc2
|
UTSW |
9 |
7,836,741 (GRCm39) |
missense |
probably damaging |
0.99 |
R4964:Birc2
|
UTSW |
9 |
7,860,553 (GRCm39) |
missense |
probably benign |
0.01 |
R5017:Birc2
|
UTSW |
9 |
7,818,886 (GRCm39) |
nonsense |
probably null |
|
R5338:Birc2
|
UTSW |
9 |
7,857,360 (GRCm39) |
missense |
probably benign |
0.01 |
R5395:Birc2
|
UTSW |
9 |
7,861,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R5877:Birc2
|
UTSW |
9 |
7,849,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R5914:Birc2
|
UTSW |
9 |
7,857,343 (GRCm39) |
makesense |
probably null |
|
R6148:Birc2
|
UTSW |
9 |
7,849,684 (GRCm39) |
missense |
possibly damaging |
0.78 |
R6163:Birc2
|
UTSW |
9 |
7,819,036 (GRCm39) |
missense |
probably benign |
0.15 |
R6471:Birc2
|
UTSW |
9 |
7,857,421 (GRCm39) |
missense |
probably benign |
0.00 |
R6747:Birc2
|
UTSW |
9 |
7,860,262 (GRCm39) |
critical splice donor site |
probably null |
|
R6752:Birc2
|
UTSW |
9 |
7,857,345 (GRCm39) |
missense |
probably benign |
0.10 |
R6789:Birc2
|
UTSW |
9 |
7,836,966 (GRCm39) |
intron |
probably benign |
|
R6795:Birc2
|
UTSW |
9 |
7,833,873 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6812:Birc2
|
UTSW |
9 |
7,854,418 (GRCm39) |
missense |
probably damaging |
0.99 |
R6941:Birc2
|
UTSW |
9 |
7,819,469 (GRCm39) |
missense |
probably benign |
0.00 |
R7105:Birc2
|
UTSW |
9 |
7,819,442 (GRCm39) |
missense |
probably damaging |
1.00 |
R7135:Birc2
|
UTSW |
9 |
7,818,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R7233:Birc2
|
UTSW |
9 |
7,827,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R7460:Birc2
|
UTSW |
9 |
7,818,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R7517:Birc2
|
UTSW |
9 |
7,819,424 (GRCm39) |
missense |
probably benign |
0.00 |
R8078:Birc2
|
UTSW |
9 |
7,858,742 (GRCm39) |
missense |
probably damaging |
0.98 |
R8101:Birc2
|
UTSW |
9 |
7,861,005 (GRCm39) |
missense |
probably benign |
0.00 |
R8146:Birc2
|
UTSW |
9 |
7,818,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R8314:Birc2
|
UTSW |
9 |
7,872,942 (GRCm39) |
intron |
probably benign |
|
R8371:Birc2
|
UTSW |
9 |
7,849,427 (GRCm39) |
missense |
probably damaging |
1.00 |
R8396:Birc2
|
UTSW |
9 |
7,834,301 (GRCm39) |
missense |
probably benign |
0.05 |
R9009:Birc2
|
UTSW |
9 |
7,833,937 (GRCm39) |
missense |
probably benign |
|
R9497:Birc2
|
UTSW |
9 |
7,861,028 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACTGCTCTTCCAATGACAAGCCTG -3'
(R):5'- TGGCCCTCTTTCAACAGTTGACAC -3'
Sequencing Primer
(F):5'- ATGTGCTGAAGCACTAGCTC -3'
(R):5'- TTTCAACAGTTGACACATGTCC -3'
|
Posted On |
2013-05-09 |