Incidental Mutation 'R1617:Birc2'
| ID |
174368 |
| 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 |
039654-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.895)
|
| Stock # |
R1617 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
7818228-7837065 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 7826952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 345
(Y345N)
|
| 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: Y345N
PolyPhen 2
Score 0.657 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000091422
Gene: ENSMUSG00000057367
AA Change: Y345N
| 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: Y345N
PolyPhen 2
Score 0.657 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000140049
Gene: ENSMUSG00000057367
AA Change: Y345N
| 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 |
0.0954 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.0%
|
| Validation Efficiency |
98% (83/85) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
A |
13: 119,603,473 (GRCm39) |
I91K |
probably damaging |
Het |
| AAdacl4fm3 |
T |
G |
4: 144,441,961 (GRCm39) |
T97P |
probably damaging |
Het |
| Adamts16 |
T |
A |
13: 70,946,154 (GRCm39) |
M254L |
probably benign |
Het |
| Adgre5 |
T |
C |
8: 84,456,806 (GRCm39) |
I192V |
possibly damaging |
Het |
| Akr1c21 |
G |
A |
13: 4,626,351 (GRCm39) |
|
probably null |
Het |
| Amz2 |
A |
G |
11: 109,324,850 (GRCm39) |
T245A |
probably benign |
Het |
| Aqp7 |
A |
C |
4: 41,036,109 (GRCm39) |
M43R |
probably null |
Het |
| Arid3c |
G |
A |
4: 41,725,103 (GRCm39) |
P315S |
probably damaging |
Het |
| Blnk |
T |
C |
19: 40,950,807 (GRCm39) |
T115A |
probably benign |
Het |
| Col5a1 |
T |
C |
2: 27,842,393 (GRCm39) |
S423P |
unknown |
Het |
| Corin |
A |
T |
5: 72,661,295 (GRCm39) |
F66Y |
possibly damaging |
Het |
| Cpd |
A |
T |
11: 76,737,495 (GRCm39) |
W100R |
probably damaging |
Het |
| Cpsf1 |
A |
T |
15: 76,486,570 (GRCm39) |
Y296* |
probably null |
Het |
| Cyp2d34 |
T |
C |
15: 82,505,046 (GRCm39) |
T5A |
probably benign |
Het |
| Dhrs7c |
G |
T |
11: 67,705,903 (GRCm39) |
V219L |
possibly damaging |
Het |
| Dnah3 |
T |
C |
7: 119,689,169 (GRCm39) |
M82V |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,786,747 (GRCm39) |
S3629P |
probably damaging |
Het |
| Fbrs |
T |
C |
7: 127,086,883 (GRCm39) |
L33P |
probably damaging |
Het |
| Fhip1b |
A |
G |
7: 105,034,269 (GRCm39) |
L454P |
probably damaging |
Het |
| Galnt11 |
T |
A |
5: 25,463,891 (GRCm39) |
S388T |
probably damaging |
Het |
| Glmp |
A |
G |
3: 88,235,426 (GRCm39) |
|
probably benign |
Het |
| Gm9894 |
A |
G |
13: 67,920,845 (GRCm39) |
|
noncoding transcript |
Het |
| Grik3 |
A |
G |
4: 125,584,985 (GRCm39) |
M618V |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,620,778 (GRCm39) |
D1144G |
probably damaging |
Het |
| Hnrnpa2b1 |
T |
C |
6: 51,443,378 (GRCm39) |
K161R |
possibly damaging |
Het |
| Kmt2c |
T |
C |
5: 25,580,925 (GRCm39) |
I523V |
probably benign |
Het |
| Lmln |
C |
T |
16: 32,937,500 (GRCm39) |
P622S |
probably damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,110,680 (GRCm39) |
T467A |
probably damaging |
Het |
| Map1s |
T |
A |
8: 71,366,095 (GRCm39) |
N333K |
probably damaging |
Het |
| Mgat4d |
C |
A |
8: 84,092,340 (GRCm39) |
A242D |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,417,261 (GRCm39) |
Y3402* |
probably null |
Het |
| Myo3b |
G |
T |
2: 70,111,562 (GRCm39) |
A922S |
probably benign |
Het |
| Nphs1 |
T |
C |
7: 30,181,956 (GRCm39) |
V1183A |
probably benign |
Het |
| Nup160 |
T |
A |
2: 90,509,843 (GRCm39) |
C31S |
probably benign |
Het |
| Or4c58 |
T |
C |
2: 89,674,598 (GRCm39) |
T240A |
probably benign |
Het |
| Or8k25 |
A |
T |
2: 86,244,035 (GRCm39) |
Y120* |
probably null |
Het |
| Pcdhb5 |
T |
G |
18: 37,454,455 (GRCm39) |
Y278* |
probably null |
Het |
| Pkhd1 |
T |
A |
1: 20,268,274 (GRCm39) |
E3368V |
possibly damaging |
Het |
| Pla2g6 |
A |
G |
15: 79,173,341 (GRCm39) |
M676T |
probably benign |
Het |
| Plcb1 |
A |
T |
2: 135,179,361 (GRCm39) |
N590Y |
probably damaging |
Het |
| Prr12 |
G |
A |
7: 44,699,018 (GRCm39) |
|
probably benign |
Het |
| Psat1 |
A |
G |
19: 15,901,666 (GRCm39) |
|
probably null |
Het |
| Ptpn9 |
T |
G |
9: 56,934,692 (GRCm39) |
I152S |
possibly damaging |
Het |
| Ric8b |
T |
A |
10: 84,783,475 (GRCm39) |
F111Y |
probably damaging |
Het |
| Slc44a3 |
G |
A |
3: 121,254,914 (GRCm39) |
A568V |
probably benign |
Het |
| Smarcd3 |
T |
G |
5: 24,800,192 (GRCm39) |
R213S |
probably damaging |
Het |
| Snx13 |
T |
C |
12: 35,136,895 (GRCm39) |
Y119H |
probably damaging |
Het |
| Socs2 |
C |
A |
10: 95,248,943 (GRCm39) |
E57* |
probably null |
Het |
| Spred1 |
C |
T |
2: 117,005,828 (GRCm39) |
P197S |
probably benign |
Het |
| Srek1 |
G |
T |
13: 103,880,112 (GRCm39) |
P482Q |
unknown |
Het |
| Tapbp |
A |
G |
17: 34,139,405 (GRCm39) |
T134A |
probably benign |
Het |
| Tarbp1 |
T |
C |
8: 127,171,007 (GRCm39) |
I998V |
possibly damaging |
Het |
| Tbcel |
G |
T |
9: 42,372,589 (GRCm39) |
|
probably benign |
Het |
| Tec |
A |
G |
5: 72,939,448 (GRCm39) |
F189S |
probably damaging |
Het |
| Tmprss11g |
A |
T |
5: 86,647,422 (GRCm39) |
Y39N |
probably damaging |
Het |
| Tmtc1 |
A |
G |
6: 148,256,902 (GRCm39) |
|
probably benign |
Het |
| Trpa1 |
A |
G |
1: 14,943,899 (GRCm39) |
I1070T |
probably damaging |
Het |
| Trpm2 |
T |
A |
10: 77,771,709 (GRCm39) |
|
probably null |
Het |
| Ttc21b |
G |
T |
2: 66,056,379 (GRCm39) |
T669K |
probably benign |
Het |
| Ttll4 |
G |
A |
1: 74,718,560 (GRCm39) |
R137H |
probably benign |
Het |
| Ubqln3 |
G |
T |
7: 103,792,067 (GRCm39) |
L8I |
possibly damaging |
Het |
| Ung |
C |
A |
5: 114,269,415 (GRCm39) |
N42K |
probably benign |
Het |
| Upp1 |
T |
C |
11: 9,084,865 (GRCm39) |
S195P |
probably damaging |
Het |
| Urb1 |
T |
C |
16: 90,557,340 (GRCm39) |
E1762G |
possibly damaging |
Het |
| Utp11 |
T |
C |
4: 124,579,904 (GRCm39) |
K35E |
probably damaging |
Het |
| Vav3 |
A |
T |
3: 109,418,294 (GRCm39) |
K305I |
probably damaging |
Het |
| Vmn1r197 |
A |
G |
13: 22,512,498 (GRCm39) |
I140V |
possibly damaging |
Het |
| Vmn2r-ps158 |
A |
G |
7: 42,673,503 (GRCm39) |
E187G |
probably benign |
Het |
| Zfc3h1 |
A |
G |
10: 115,226,827 (GRCm39) |
T295A |
probably benign |
Het |
| Zfp268 |
A |
T |
4: 145,350,877 (GRCm39) |
|
probably benign |
Het |
| Zfp46 |
T |
C |
4: 136,017,823 (GRCm39) |
L219P |
probably damaging |
Het |
| Zfp493 |
G |
A |
13: 67,931,999 (GRCm39) |
V33M |
probably damaging |
Het |
| Zfp92 |
T |
C |
X: 72,463,466 (GRCm39) |
|
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 |
|
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 |
|
|
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'- CCCAAACTAGGCGGGTCTTTCTTTC -3'
(R):5'- CAACACAATGAGAATGTGGTGTGTGAC -3'
Sequencing Primer
(F):5'- ccgcttcatttaacctggaac -3'
(R):5'- CTACTGGGTTGTGATATAAACAGGG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation