Incidental Mutation 'IGL01329:Birc2'
ID |
74428 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Birc2
|
Ensembl Gene |
ENSMUSG00000057367 |
Gene Name |
baculoviral IAP repeat-containing 2 |
Synonyms |
cIAP1, Api1, HIAP1, cIAP-1, MIAP1, mcIAP1, MIHB, IAP1 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.906)
|
Stock # |
IGL01329
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
7818228-7837065 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 7860733 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 195
(Y195C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111336
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013949]
[ENSMUST00000115672]
[ENSMUST00000115673]
[ENSMUST00000159323]
|
AlphaFold |
Q62210 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000013949
AA Change: Y195C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000013949 Gene: ENSMUSG00000032000 AA Change: Y195C
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 damaging
Transcript: ENSMUST00000115672
AA Change: Y195C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000111336 Gene: ENSMUSG00000032000 AA Change: Y195C
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 benign
Transcript: ENSMUST00000115673
|
SMART Domains |
Protein: ENSMUSP00000111337 Gene: ENSMUSG00000032000
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: ENSMUST00000159323
|
SMART Domains |
Protein: ENSMUSP00000125652 Gene: ENSMUSG00000032000
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 |
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
T |
C |
5: 8,944,166 (GRCm39) |
|
probably null |
Het |
Ankib1 |
A |
T |
5: 3,784,194 (GRCm39) |
|
probably benign |
Het |
Cand2 |
T |
C |
6: 115,759,755 (GRCm39) |
I142T |
probably benign |
Het |
Cdh15 |
T |
C |
8: 123,592,062 (GRCm39) |
|
probably benign |
Het |
Ceacam5 |
G |
A |
7: 17,479,534 (GRCm39) |
G217D |
probably damaging |
Het |
Cfap54 |
T |
A |
10: 92,917,385 (GRCm39) |
H25L |
unknown |
Het |
Cfap95 |
A |
G |
19: 23,630,100 (GRCm39) |
|
probably benign |
Het |
Col22a1 |
A |
G |
15: 71,778,889 (GRCm39) |
V266A |
probably benign |
Het |
D3Ertd751e |
A |
G |
3: 41,703,132 (GRCm39) |
D69G |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,622,164 (GRCm39) |
I1518V |
probably damaging |
Het |
Entpd8 |
A |
G |
2: 24,974,358 (GRCm39) |
K381R |
probably benign |
Het |
Fli1 |
T |
A |
9: 32,335,397 (GRCm39) |
K345I |
probably damaging |
Het |
G6pd2 |
T |
C |
5: 61,967,281 (GRCm39) |
V352A |
probably damaging |
Het |
Gbp11 |
C |
T |
5: 105,475,482 (GRCm39) |
|
probably null |
Het |
Gm11992 |
A |
G |
11: 9,018,383 (GRCm39) |
*292W |
probably null |
Het |
Ifnar2 |
T |
A |
16: 91,188,599 (GRCm39) |
|
probably benign |
Het |
Impg1 |
T |
C |
9: 80,230,111 (GRCm39) |
K661R |
probably benign |
Het |
Inf2 |
G |
T |
12: 112,578,290 (GRCm39) |
E651* |
probably null |
Het |
Ints1 |
A |
G |
5: 139,753,258 (GRCm39) |
|
probably benign |
Het |
Iqcf4 |
T |
C |
9: 106,447,832 (GRCm39) |
K26E |
probably benign |
Het |
Map4k3 |
A |
G |
17: 80,951,613 (GRCm39) |
V289A |
probably benign |
Het |
Mis18bp1 |
T |
C |
12: 65,205,215 (GRCm39) |
K319R |
possibly damaging |
Het |
Nubpl |
T |
C |
12: 52,352,638 (GRCm39) |
V291A |
probably damaging |
Het |
Or4f56 |
A |
G |
2: 111,703,295 (GRCm39) |
F302L |
probably benign |
Het |
Or4k15c |
C |
T |
14: 50,321,454 (GRCm39) |
R228H |
probably benign |
Het |
Or8b57 |
A |
G |
9: 40,003,324 (GRCm39) |
S313P |
possibly damaging |
Het |
Or8k38 |
T |
C |
2: 86,488,551 (GRCm39) |
N84D |
probably benign |
Het |
Otof |
A |
G |
5: 30,598,723 (GRCm39) |
S29P |
probably benign |
Het |
Pcca |
A |
G |
14: 122,927,545 (GRCm39) |
D436G |
possibly damaging |
Het |
Rasef |
T |
A |
4: 73,645,882 (GRCm39) |
T496S |
probably damaging |
Het |
Saa2 |
A |
G |
7: 46,402,896 (GRCm39) |
D49G |
probably benign |
Het |
Scart1 |
T |
A |
7: 139,804,552 (GRCm39) |
|
probably null |
Het |
Scn2a |
A |
G |
2: 65,547,852 (GRCm39) |
I1015V |
probably benign |
Het |
Sim2 |
T |
C |
16: 93,907,119 (GRCm39) |
Y154H |
possibly damaging |
Het |
Spag17 |
A |
G |
3: 100,002,865 (GRCm39) |
H1863R |
probably benign |
Het |
Supt16 |
C |
T |
14: 52,414,489 (GRCm39) |
E438K |
probably benign |
Het |
Svil |
A |
G |
18: 5,064,501 (GRCm39) |
E1111G |
probably benign |
Het |
Trabd2b |
T |
C |
4: 114,266,322 (GRCm39) |
V112A |
probably damaging |
Het |
Vmn1r205 |
T |
C |
13: 22,776,273 (GRCm39) |
I276M |
probably benign |
Het |
Vps13d |
A |
T |
4: 144,882,776 (GRCm39) |
I939N |
possibly damaging |
Het |
Zc3h11a |
T |
C |
1: 133,553,600 (GRCm39) |
M515V |
probably benign |
Het |
Zfp457 |
T |
C |
13: 67,442,330 (GRCm39) |
T82A |
possibly damaging |
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 |
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 |
|
R9497:Birc2
|
UTSW |
9 |
7,861,028 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2013-10-07 |