Incidental Mutation 'R2867:Birc2'
| ID |
266397 |
| 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 |
040456-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.895)
|
| Stock # |
R2867 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
7818228-7837065 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to C
at 7834478 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 1
(M1R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054878]
[ENSMUST00000074246]
[ENSMUST00000190341]
|
| AlphaFold |
Q62210 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054878
|
| SMART Domains |
Protein: ENSMUSP00000062610
Gene: ENSMUSG00000057367
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
67 |
86 |
N/A |
INTRINSIC |
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000074246
AA Change: M1R
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000091422
Gene: ENSMUSG00000057367
AA Change: M1R
| 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 |
noncoding transcript
Transcript: ENSMUST00000189935
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000190341
AA Change: M1R
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000140049
Gene: ENSMUSG00000057367
AA Change: M1R
| 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 |
noncoding transcript
Transcript: ENSMUST00000191248
|
| Meta Mutation Damage Score |
0.9436 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (30/31) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adss2 |
T |
C |
1: 177,595,378 (GRCm39) |
|
probably null |
Het |
| Arid3c |
T |
C |
4: 41,725,958 (GRCm39) |
D215G |
probably damaging |
Het |
| Caprin2 |
G |
A |
6: 148,747,738 (GRCm39) |
|
silent |
Het |
| Cog4 |
C |
A |
8: 111,593,291 (GRCm39) |
|
probably benign |
Het |
| Cpz |
T |
C |
5: 35,659,705 (GRCm39) |
K647E |
probably benign |
Het |
| Ctnna2 |
T |
C |
6: 77,091,905 (GRCm39) |
|
probably benign |
Het |
| Cyp7a1 |
T |
C |
4: 6,272,493 (GRCm39) |
E240G |
probably damaging |
Het |
| Dnaaf11 |
A |
T |
15: 66,310,257 (GRCm39) |
L337* |
probably null |
Het |
| Efhc2 |
A |
T |
X: 17,027,484 (GRCm39) |
|
probably benign |
Homo |
| Epha6 |
T |
C |
16: 59,780,659 (GRCm39) |
|
probably null |
Het |
| Evc |
T |
A |
5: 37,473,619 (GRCm39) |
|
probably benign |
Het |
| Fbf1 |
A |
G |
11: 116,052,274 (GRCm39) |
|
probably benign |
Het |
| Grin2b |
A |
G |
6: 135,710,637 (GRCm39) |
F970L |
probably damaging |
Het |
| Gtf3c4 |
A |
G |
2: 28,729,916 (GRCm39) |
|
probably benign |
Het |
| Kcnma1 |
A |
T |
14: 23,423,275 (GRCm39) |
N682K |
probably benign |
Het |
| Kif20b |
A |
G |
19: 34,917,528 (GRCm39) |
E631G |
probably damaging |
Het |
| Lctl |
T |
C |
9: 64,045,150 (GRCm39) |
S550P |
probably benign |
Het |
| Mapk10 |
C |
T |
5: 103,186,548 (GRCm39) |
D25N |
probably benign |
Het |
| Mgst2 |
A |
G |
3: 51,571,954 (GRCm39) |
|
silent |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 87,588,033 (GRCm39) |
N302D |
probably benign |
Het |
| Pcdh7 |
A |
T |
5: 57,879,236 (GRCm39) |
K930N |
probably damaging |
Het |
| Pramel16 |
T |
A |
4: 143,675,456 (GRCm39) |
I457L |
probably benign |
Het |
| Proca1 |
A |
T |
11: 78,095,806 (GRCm39) |
N146I |
probably damaging |
Het |
| RP23-211L5.9 |
T |
C |
6: 68,872,634 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
A |
T |
13: 11,776,235 (GRCm39) |
W1101R |
probably damaging |
Het |
| Slc35d3 |
T |
C |
10: 19,725,209 (GRCm39) |
T216A |
probably benign |
Het |
| Terb1 |
C |
T |
8: 105,174,485 (GRCm39) |
|
probably benign |
Het |
| Thnsl2 |
C |
A |
6: 71,108,945 (GRCm39) |
D289Y |
probably damaging |
Het |
| Tigd4 |
A |
G |
3: 84,501,259 (GRCm39) |
N59D |
possibly damaging |
Het |
| Togaram2 |
T |
C |
17: 72,016,592 (GRCm39) |
S649P |
probably benign |
Het |
| Tradd |
G |
T |
8: 105,986,145 (GRCm39) |
F182L |
probably benign |
Het |
| Trav17 |
A |
T |
14: 54,044,383 (GRCm39) |
Y50F |
probably benign |
Het |
| Usp37 |
A |
T |
1: 74,489,691 (GRCm39) |
D808E |
probably damaging |
Het |
| Usp42 |
G |
A |
5: 143,701,219 (GRCm39) |
P935S |
possibly damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,690,123 (GRCm39) |
D333G |
possibly damaging |
Het |
| Zfpm2 |
C |
T |
15: 40,962,785 (GRCm39) |
A149V |
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 |
|
|
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 |
|
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'- CTCCTCTCTGAGACAGGAACTC -3'
(R):5'- CCAGAAGAGTTCATGTGACCC -3'
Sequencing Primer
(F):5'- CTCCCCTGGGAAAAGCTGAATATG -3'
(R):5'- CCCAAAGAGTCCTAACTAGTGTCTTG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation