Incidental Mutation 'R7233:Birc2'
ID |
562640 |
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 |
045343-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.906)
|
Stock # |
R7233 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
7818228-7837065 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 7827009 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 326
(C326S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091422
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074246]
[ENSMUST00000190341]
|
AlphaFold |
Q62210 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000074246
AA Change: C326S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000091422 Gene: ENSMUSG00000057367 AA Change: C326S
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 |
probably damaging
Transcript: ENSMUST00000190341
AA Change: C326S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140049 Gene: ENSMUSG00000057367 AA Change: C326S
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 |
0.9721 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (75/75) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox3 |
A |
G |
5: 35,762,641 (GRCm39) |
K505R |
probably benign |
Het |
Arhgap24 |
A |
G |
5: 103,026,367 (GRCm39) |
K263E |
probably benign |
Het |
Ark2n |
C |
A |
18: 77,722,882 (GRCm39) |
V385F |
probably damaging |
Het |
Armc2 |
A |
T |
10: 41,799,800 (GRCm39) |
V686D |
probably damaging |
Het |
Bhmt |
T |
A |
13: 93,758,025 (GRCm39) |
K229* |
probably null |
Het |
Blzf1 |
A |
T |
1: 164,123,512 (GRCm39) |
|
probably null |
Het |
Camsap3 |
T |
A |
8: 3,650,371 (GRCm39) |
F223Y |
probably damaging |
Het |
Ccdc126 |
C |
T |
6: 49,316,775 (GRCm39) |
T85M |
probably damaging |
Het |
Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
Ces2h |
T |
A |
8: 105,744,088 (GRCm39) |
C279S |
probably damaging |
Het |
Cfap44 |
T |
A |
16: 44,242,771 (GRCm39) |
L725Q |
probably damaging |
Het |
Cibar2 |
A |
G |
8: 120,898,661 (GRCm39) |
L131P |
probably damaging |
Het |
Clip1 |
T |
C |
5: 123,749,922 (GRCm39) |
E987G |
probably damaging |
Het |
Cog1 |
G |
T |
11: 113,540,556 (GRCm39) |
R57L |
probably damaging |
Het |
Ctdspl |
T |
C |
9: 118,849,114 (GRCm39) |
|
probably null |
Het |
Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
Dnttip2 |
T |
C |
3: 122,070,039 (GRCm39) |
V418A |
probably benign |
Het |
Dop1a |
G |
A |
9: 86,403,749 (GRCm39) |
A186T |
probably benign |
Het |
Efcab3 |
T |
C |
11: 104,730,669 (GRCm39) |
S1966P |
possibly damaging |
Het |
Engase |
T |
A |
11: 118,373,827 (GRCm39) |
V323E |
probably damaging |
Het |
Farsb |
A |
G |
1: 78,447,718 (GRCm39) |
|
probably null |
Het |
Fpr2 |
G |
T |
17: 18,113,766 (GRCm39) |
W254L |
probably damaging |
Het |
Frmd3 |
A |
C |
4: 73,932,023 (GRCm39) |
H6P |
probably benign |
Het |
Fscn1 |
C |
T |
5: 142,956,029 (GRCm39) |
S366L |
possibly damaging |
Het |
Galt |
T |
A |
4: 41,758,267 (GRCm39) |
I344N |
probably benign |
Het |
Gfra4 |
A |
T |
2: 130,883,037 (GRCm39) |
V194E |
probably damaging |
Het |
Golgb1 |
T |
C |
16: 36,735,120 (GRCm39) |
S1497P |
possibly damaging |
Het |
Igfn1 |
A |
C |
1: 135,897,873 (GRCm39) |
S898A |
probably benign |
Het |
Igkv1-135 |
T |
C |
6: 67,587,332 (GRCm39) |
S68P |
probably benign |
Het |
Lama2 |
A |
T |
10: 27,107,659 (GRCm39) |
C784S |
probably damaging |
Het |
Lars2 |
G |
T |
9: 123,241,019 (GRCm39) |
G229* |
probably null |
Het |
Lats2 |
A |
T |
14: 57,960,151 (GRCm39) |
|
probably null |
Het |
Lgr6 |
A |
C |
1: 134,928,214 (GRCm39) |
|
probably null |
Het |
Lrp1 |
A |
T |
10: 127,430,930 (GRCm39) |
I373N |
probably damaging |
Het |
Maml2 |
A |
T |
9: 13,532,067 (GRCm39) |
H427L |
|
Het |
Mansc1 |
A |
G |
6: 134,598,806 (GRCm39) |
V37A |
probably damaging |
Het |
Map4k3 |
A |
G |
17: 80,905,077 (GRCm39) |
V738A |
possibly damaging |
Het |
Mastl |
A |
G |
2: 23,023,670 (GRCm39) |
I351T |
probably benign |
Het |
Mcmdc2 |
T |
G |
1: 10,002,408 (GRCm39) |
|
probably null |
Het |
Mrgprd |
A |
G |
7: 144,875,672 (GRCm39) |
D181G |
possibly damaging |
Het |
Msantd5f9 |
G |
T |
4: 73,835,808 (GRCm39) |
L219M |
probably benign |
Het |
Msra |
T |
C |
14: 64,360,714 (GRCm39) |
Y209C |
probably damaging |
Het |
Musk |
A |
G |
4: 58,373,307 (GRCm39) |
E759G |
possibly damaging |
Het |
Nab1 |
T |
C |
1: 52,498,378 (GRCm39) |
*487W |
probably null |
Het |
Or2z9 |
A |
G |
8: 72,853,900 (GRCm39) |
T99A |
probably benign |
Het |
Or5p66 |
T |
A |
7: 107,885,923 (GRCm39) |
T137S |
probably benign |
Het |
Pkdrej |
A |
G |
15: 85,705,349 (GRCm39) |
S196P |
probably damaging |
Het |
Pln |
A |
G |
10: 53,220,008 (GRCm39) |
T17A |
probably damaging |
Het |
Polrmt |
A |
T |
10: 79,581,619 (GRCm39) |
|
probably null |
Het |
Ppp1r14a |
T |
A |
7: 28,988,949 (GRCm39) |
Y64N |
probably damaging |
Het |
Ppp1r9a |
A |
T |
6: 5,134,804 (GRCm39) |
H959L |
probably benign |
Het |
Pramel42 |
A |
T |
5: 94,685,524 (GRCm39) |
M395L |
probably benign |
Het |
Prmt7 |
A |
G |
8: 106,946,642 (GRCm39) |
T75A |
probably damaging |
Het |
Prom1 |
T |
C |
5: 44,194,816 (GRCm39) |
S319G |
possibly damaging |
Het |
Prtg |
G |
A |
9: 72,819,273 (GRCm39) |
G1089S |
probably benign |
Het |
Ptprd |
T |
C |
4: 75,978,020 (GRCm39) |
D596G |
probably benign |
Het |
Rbm12 |
C |
T |
2: 155,937,894 (GRCm39) |
G793S |
unknown |
Het |
Rora |
A |
T |
9: 69,104,804 (GRCm39) |
R43* |
probably null |
Het |
Sez6 |
T |
C |
11: 77,863,963 (GRCm39) |
Y482H |
probably damaging |
Het |
Skint2 |
A |
T |
4: 112,483,122 (GRCm39) |
N176Y |
probably damaging |
Het |
Slc44a2 |
G |
T |
9: 21,259,445 (GRCm39) |
|
probably null |
Het |
Sox6 |
A |
G |
7: 115,089,044 (GRCm39) |
V606A |
possibly damaging |
Het |
Spa17 |
T |
C |
9: 37,514,587 (GRCm39) |
|
probably null |
Het |
Syne1 |
A |
C |
10: 5,252,160 (GRCm39) |
L2498R |
probably damaging |
Het |
Synpo2 |
T |
G |
3: 122,911,333 (GRCm39) |
H104P |
probably benign |
Het |
Tapbp |
G |
T |
17: 34,138,943 (GRCm39) |
A46S |
probably damaging |
Het |
Tbc1d30 |
C |
A |
10: 121,107,962 (GRCm39) |
R480L |
probably benign |
Het |
Tshz1 |
T |
C |
18: 84,032,944 (GRCm39) |
D488G |
possibly damaging |
Het |
Ulk1 |
A |
G |
5: 110,956,908 (GRCm39) |
L70P |
probably damaging |
Het |
Zcchc17 |
T |
A |
4: 130,221,116 (GRCm39) |
D145V |
probably damaging |
Het |
Zfp318 |
T |
A |
17: 46,716,978 (GRCm39) |
L1037M |
probably damaging |
Het |
Zfp324 |
C |
T |
7: 12,704,524 (GRCm39) |
Q238* |
probably null |
Het |
Zfp874a |
A |
G |
13: 67,590,776 (GRCm39) |
Y303H |
possibly damaging |
Het |
Zfp975 |
T |
C |
7: 42,311,918 (GRCm39) |
K232E |
probably benign |
Het |
Zfp982 |
T |
A |
4: 147,597,718 (GRCm39) |
N358K |
probably benign |
Het |
Zmiz1 |
C |
T |
14: 25,650,092 (GRCm39) |
P417S |
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 |
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 |
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'- TGAACCTGGCCACATAGGTG -3'
(R):5'- CAATGAGAATGTGGTGTGTGAC -3'
Sequencing Primer
(F):5'- ACATCCTAGGGTTACTGATGCATGC -3'
(R):5'- AATGAGAATGTGGTGTGTGACAGTTG -3'
|
Posted On |
2019-06-26 |