Incidental Mutation 'R9497:Birc2'
ID |
717294 |
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 |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.895)
|
Stock # |
R9497 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
7818228-7837065 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 7861028 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 97
(Q97*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000013949
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013949]
[ENSMUST00000115672]
[ENSMUST00000115673]
[ENSMUST00000159323]
|
AlphaFold |
Q62210 |
Predicted Effect |
probably null
Transcript: ENSMUST00000013949
AA Change: Q97*
|
SMART Domains |
Protein: ENSMUSP00000013949 Gene: ENSMUSG00000032000 AA Change: Q97*
Domain | Start | End | E-Value | Type |
BIR
|
27 |
98 |
1.92e-34 |
SMART |
low complexity region
|
132 |
145 |
N/A |
INTRINSIC |
BIR
|
167 |
237 |
2.12e-36 |
SMART |
BIR
|
253 |
324 |
1.5e-36 |
SMART |
CARD
|
438 |
525 |
7.29e-4 |
SMART |
RING
|
555 |
589 |
1.43e-5 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000115672
AA Change: Q97*
|
SMART Domains |
Protein: ENSMUSP00000111336 Gene: ENSMUSG00000032000 AA Change: Q97*
Domain | Start | End | E-Value | Type |
BIR
|
27 |
98 |
1.92e-34 |
SMART |
low complexity region
|
132 |
145 |
N/A |
INTRINSIC |
BIR
|
167 |
237 |
2.12e-36 |
SMART |
BIR
|
253 |
324 |
1.5e-36 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000115673
AA Change: Q97*
|
SMART Domains |
Protein: ENSMUSP00000111337 Gene: ENSMUSG00000032000 AA Change: Q97*
Domain | Start | End | E-Value | Type |
BIR
|
27 |
98 |
1.92e-34 |
SMART |
low complexity region
|
132 |
145 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000159323
AA Change: Q97*
|
SMART Domains |
Protein: ENSMUSP00000125652 Gene: ENSMUSG00000032000 AA Change: Q97*
Domain | Start | End | E-Value | Type |
BIR
|
27 |
98 |
1.92e-34 |
SMART |
low complexity region
|
132 |
145 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161642
|
SMART Domains |
Protein: ENSMUSP00000125512 Gene: ENSMUSG00000032000
Domain | Start | End | E-Value | Type |
SCOP:d1g73d_
|
4 |
35 |
1e-6 |
SMART |
PDB:3T6P|A
|
4 |
106 |
2e-39 |
PDB |
low complexity region
|
107 |
125 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
|
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810459M11Rik |
A |
C |
1: 85,973,893 (GRCm39) |
E70A |
possibly damaging |
Het |
Abcb5 |
C |
A |
12: 118,899,850 (GRCm39) |
Q272H |
probably damaging |
Het |
Acoxl |
T |
C |
2: 127,719,706 (GRCm39) |
Y156H |
probably damaging |
Het |
Alg9 |
T |
C |
9: 50,711,436 (GRCm39) |
F305L |
probably damaging |
Het |
Apobec4 |
T |
C |
1: 152,632,947 (GRCm39) |
V325A |
probably benign |
Het |
Aqp9 |
T |
G |
9: 71,069,651 (GRCm39) |
D46A |
probably benign |
Het |
Atp13a4 |
T |
A |
16: 29,288,130 (GRCm39) |
|
probably null |
Het |
BC051019 |
A |
G |
7: 109,315,466 (GRCm39) |
F263S |
probably damaging |
Het |
Bicc1 |
A |
T |
10: 70,776,828 (GRCm39) |
|
probably null |
Het |
Capn13 |
G |
T |
17: 73,633,362 (GRCm39) |
T533N |
probably benign |
Het |
Casp6 |
G |
A |
3: 129,699,559 (GRCm39) |
V13M |
probably benign |
Het |
Cdh10 |
A |
T |
15: 18,964,267 (GRCm39) |
E143V |
probably damaging |
Het |
Cobl |
T |
A |
11: 12,203,501 (GRCm39) |
Q1067L |
probably benign |
Het |
Cr2 |
A |
G |
1: 194,850,743 (GRCm39) |
V241A |
probably damaging |
Het |
Cyp2c23 |
C |
T |
19: 44,010,085 (GRCm39) |
V87M |
probably damaging |
Het |
Cyp2j9 |
G |
A |
4: 96,460,211 (GRCm39) |
Q431* |
probably null |
Het |
Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
Cyp4a12b |
A |
T |
4: 115,271,768 (GRCm39) |
M160L |
probably benign |
Het |
Ddhd2 |
T |
A |
8: 26,217,731 (GRCm39) |
K715N |
possibly damaging |
Het |
Ecscr |
T |
C |
18: 35,851,436 (GRCm39) |
Y32C |
probably damaging |
Het |
Ednra |
A |
T |
8: 78,446,934 (GRCm39) |
L48Q |
probably benign |
Het |
Eya4 |
C |
T |
10: 22,987,458 (GRCm39) |
|
probably null |
Het |
F13a1 |
C |
A |
13: 37,082,118 (GRCm39) |
V529L |
probably benign |
Het |
Fam151b |
A |
T |
13: 92,610,621 (GRCm39) |
I56K |
probably damaging |
Het |
Fat3 |
A |
G |
9: 15,903,504 (GRCm39) |
I2997T |
probably damaging |
Het |
Fgfr2 |
A |
T |
7: 129,765,763 (GRCm39) |
F817I |
probably damaging |
Het |
Fras1 |
G |
T |
5: 96,884,895 (GRCm39) |
C2591F |
probably damaging |
Het |
Fryl |
T |
C |
5: 73,215,134 (GRCm39) |
D2214G |
|
Het |
Galntl6 |
A |
T |
8: 58,290,410 (GRCm39) |
D394E |
probably damaging |
Het |
Ggcx |
C |
A |
6: 72,406,190 (GRCm39) |
N605K |
probably damaging |
Het |
Gja5 |
A |
G |
3: 96,958,801 (GRCm39) |
N286S |
|
Het |
Gm4553 |
A |
T |
7: 141,719,298 (GRCm39) |
C43* |
probably null |
Het |
Gpr158 |
T |
C |
2: 21,831,825 (GRCm39) |
V975A |
probably benign |
Het |
Greb1l |
T |
A |
18: 10,458,600 (GRCm39) |
D60E |
probably benign |
Het |
Hao2 |
A |
T |
3: 98,784,462 (GRCm39) |
L301H |
probably damaging |
Het |
Hic1 |
A |
G |
11: 75,060,131 (GRCm39) |
L72P |
possibly damaging |
Het |
Hs3st5 |
A |
C |
10: 36,709,370 (GRCm39) |
N302H |
probably benign |
Het |
Htr1d |
A |
G |
4: 136,169,663 (GRCm39) |
|
probably benign |
Het |
Inka1 |
A |
G |
9: 107,861,938 (GRCm39) |
V128A |
probably benign |
Het |
Kdm7a |
T |
C |
6: 39,128,253 (GRCm39) |
D526G |
probably damaging |
Het |
Kif5a |
T |
C |
10: 127,079,353 (GRCm39) |
S282G |
probably damaging |
Het |
Klhdc7b |
T |
C |
15: 89,272,463 (GRCm39) |
V457A |
possibly damaging |
Het |
Lcorl |
A |
G |
5: 45,891,339 (GRCm39) |
V421A |
probably benign |
Het |
Ltc4s |
A |
G |
11: 50,127,386 (GRCm39) |
S150P |
unknown |
Het |
Mdfic |
C |
T |
6: 15,720,852 (GRCm39) |
R18W |
unknown |
Het |
Mdfic |
T |
G |
6: 15,770,508 (GRCm39) |
D171E |
probably benign |
Het |
Meis2 |
T |
C |
2: 115,694,724 (GRCm39) |
D473G |
possibly damaging |
Het |
Mettl17 |
A |
T |
14: 52,129,029 (GRCm39) |
Q433L |
unknown |
Het |
Mettl25 |
T |
C |
10: 105,677,090 (GRCm39) |
R31G |
probably damaging |
Het |
Mroh2b |
T |
A |
15: 4,950,845 (GRCm39) |
I581N |
probably damaging |
Het |
Myh7 |
A |
T |
14: 55,217,841 (GRCm39) |
N1091K |
probably benign |
Het |
Mysm1 |
T |
C |
4: 94,848,635 (GRCm39) |
D466G |
probably benign |
Het |
Ncoa6 |
T |
C |
2: 155,248,238 (GRCm39) |
T1689A |
probably damaging |
Het |
Ndfip2 |
A |
G |
14: 105,542,245 (GRCm39) |
T332A |
probably benign |
Het |
Nfkbil1 |
G |
A |
17: 35,439,605 (GRCm39) |
P303S |
probably damaging |
Het |
Nfx1 |
T |
G |
4: 40,994,104 (GRCm39) |
N604K |
probably benign |
Het |
Npb |
T |
C |
11: 120,499,473 (GRCm39) |
F47L |
probably benign |
Het |
Nr2c2 |
C |
T |
6: 92,133,673 (GRCm39) |
T259I |
possibly damaging |
Het |
Nt5el |
G |
T |
13: 105,236,987 (GRCm39) |
L79F |
probably damaging |
Het |
Obsl1 |
C |
T |
1: 75,467,484 (GRCm39) |
C1430Y |
probably damaging |
Het |
Or10al5 |
T |
A |
17: 38,062,942 (GRCm39) |
Y66N |
probably damaging |
Het |
Or10b1 |
A |
G |
10: 78,355,738 (GRCm39) |
I99V |
probably benign |
Het |
Or10g6 |
A |
T |
9: 39,934,616 (GRCm39) |
H309L |
probably benign |
Het |
Or4d5 |
G |
A |
9: 40,011,935 (GRCm39) |
P284S |
probably damaging |
Het |
Or4n4b |
C |
T |
14: 50,536,362 (GRCm39) |
V135I |
probably benign |
Het |
Or6c202 |
C |
A |
10: 128,996,464 (GRCm39) |
V130L |
probably benign |
Het |
Or6f1 |
G |
A |
7: 85,970,989 (GRCm39) |
T57M |
probably damaging |
Het |
Pdcd6 |
A |
T |
13: 74,453,695 (GRCm39) |
F148I |
probably damaging |
Het |
Pih1d1 |
A |
T |
7: 44,803,789 (GRCm39) |
Q16L |
unknown |
Het |
Ppp1r10 |
T |
C |
17: 36,235,786 (GRCm39) |
S123P |
probably damaging |
Het |
Ppp1r13b |
A |
T |
12: 111,807,446 (GRCm39) |
M305K |
probably benign |
Het |
Prg2 |
A |
G |
2: 84,811,685 (GRCm39) |
K2E |
possibly damaging |
Het |
Prkd1 |
A |
T |
12: 50,438,107 (GRCm39) |
|
probably null |
Het |
Rfx7 |
T |
A |
9: 72,526,423 (GRCm39) |
H1204Q |
probably benign |
Het |
Serpina3k |
A |
C |
12: 104,309,430 (GRCm39) |
Q291H |
probably benign |
Het |
Tafa4 |
T |
A |
6: 96,820,831 (GRCm39) |
I93F |
possibly damaging |
Het |
Tas2r107 |
G |
T |
6: 131,636,549 (GRCm39) |
Q167K |
probably benign |
Het |
Tle1 |
A |
C |
4: 72,071,135 (GRCm39) |
|
probably benign |
Het |
Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
Trpa1 |
C |
T |
1: 14,989,026 (GRCm39) |
E12K |
probably benign |
Het |
Vmn2r7 |
T |
C |
3: 64,614,474 (GRCm39) |
T447A |
probably benign |
Het |
Wdr86 |
T |
C |
5: 24,920,538 (GRCm39) |
Y283C |
probably benign |
Het |
Zfp329 |
A |
T |
7: 12,544,215 (GRCm39) |
Y436* |
probably null |
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 |
R0409:Birc2
|
UTSW |
9 |
7,819,385 (GRCm39) |
missense |
possibly damaging |
0.61 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCTCTGTGTTCATTGCAAAGTG -3'
(R):5'- TTCAGCTTTTCCCAGGGGAG -3'
Sequencing Primer
(F):5'- TAGGGACTTGTGCTCAAAGC -3'
(R):5'- AGTTCCTGTGTCAGAAAGGAGTC -3'
|
Posted On |
2022-07-18 |