Incidental Mutation 'R6752:Birc2'
ID |
530833 |
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 |
044869-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.895)
|
Stock # |
R6752 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
7818228-7837065 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 7857345 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 376
(A376V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111336
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013949]
[ENSMUST00000115672]
[ENSMUST00000115673]
[ENSMUST00000159323]
|
AlphaFold |
Q62210 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000013949
|
SMART Domains |
Protein: ENSMUSP00000013949 Gene: ENSMUSG00000032000
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 benign
Transcript: ENSMUST00000115672
AA Change: A376V
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000111336 Gene: ENSMUSG00000032000 AA Change: A376V
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
98% (55/56) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
C |
11: 84,086,309 (GRCm39) |
L45S |
probably benign |
Het |
Agbl2 |
G |
A |
2: 90,633,418 (GRCm39) |
C518Y |
probably damaging |
Het |
Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
Aox1 |
T |
C |
1: 58,086,398 (GRCm39) |
I101T |
probably benign |
Het |
Arhgap23 |
T |
C |
11: 97,343,074 (GRCm39) |
F241S |
probably damaging |
Het |
Asmt |
A |
G |
X: 169,110,096 (GRCm39) |
M202V |
probably benign |
Het |
Atp6v0a2 |
A |
G |
5: 124,779,452 (GRCm39) |
E189G |
probably damaging |
Het |
Ccbe1 |
C |
T |
18: 66,209,378 (GRCm39) |
|
probably null |
Het |
Chst2 |
C |
A |
9: 95,286,802 (GRCm39) |
E515* |
probably null |
Het |
Col12a1 |
A |
T |
9: 79,540,706 (GRCm39) |
N2426K |
possibly damaging |
Het |
Dmrt2 |
A |
G |
19: 25,655,706 (GRCm39) |
N435S |
probably damaging |
Het |
Dnah14 |
A |
G |
1: 181,421,017 (GRCm39) |
K123E |
probably benign |
Het |
Dock4 |
T |
A |
12: 40,870,616 (GRCm39) |
L1452Q |
probably damaging |
Het |
Galnt7 |
G |
A |
8: 58,105,985 (GRCm39) |
R10C |
probably damaging |
Het |
Gm16506 |
A |
G |
14: 43,964,876 (GRCm39) |
I22T |
unknown |
Het |
H2-Q6 |
A |
G |
17: 35,647,103 (GRCm39) |
T292A |
probably damaging |
Het |
Ifne |
A |
G |
4: 88,798,319 (GRCm39) |
M33T |
probably benign |
Het |
Igf2r |
G |
A |
17: 12,933,831 (GRCm39) |
R808W |
probably damaging |
Het |
Igfbp5 |
T |
C |
1: 72,903,068 (GRCm39) |
E169G |
probably damaging |
Het |
Inppl1 |
G |
A |
7: 101,481,749 (GRCm39) |
R198* |
probably null |
Het |
Irgm1 |
T |
C |
11: 48,757,290 (GRCm39) |
T174A |
probably damaging |
Het |
Itih3 |
C |
T |
14: 30,645,446 (GRCm39) |
G21S |
possibly damaging |
Het |
Klra4 |
G |
T |
6: 130,038,991 (GRCm39) |
Q134K |
probably benign |
Het |
Mfsd1 |
T |
A |
3: 67,503,936 (GRCm39) |
Y309* |
probably null |
Het |
Mrps10 |
A |
G |
17: 47,688,740 (GRCm39) |
N162S |
probably damaging |
Het |
Mtmr14 |
T |
C |
6: 113,217,358 (GRCm39) |
F90S |
probably damaging |
Het |
Myh15 |
A |
G |
16: 49,003,290 (GRCm39) |
D1783G |
probably damaging |
Het |
Myo3b |
A |
G |
2: 70,119,856 (GRCm39) |
E972G |
probably damaging |
Het |
Myt1 |
G |
T |
2: 181,442,875 (GRCm39) |
V455F |
probably damaging |
Het |
Nbea |
A |
T |
3: 55,944,640 (GRCm39) |
S575T |
probably benign |
Het |
Nbea |
T |
A |
3: 55,875,730 (GRCm39) |
T1647S |
probably benign |
Het |
Ntn4 |
A |
G |
10: 93,570,037 (GRCm39) |
N466S |
probably benign |
Het |
Or10ag52 |
A |
G |
2: 87,043,388 (GRCm39) |
M51V |
probably benign |
Het |
Or5b114-ps1 |
T |
A |
19: 13,352,890 (GRCm39) |
L188H |
unknown |
Het |
Or5h27 |
T |
A |
16: 59,006,694 (GRCm39) |
N51Y |
probably damaging |
Het |
Pcdhgb4 |
T |
A |
18: 37,853,704 (GRCm39) |
I33N |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
Pom121l2 |
T |
G |
13: 22,165,939 (GRCm39) |
F70C |
probably damaging |
Het |
Psmb5 |
T |
C |
14: 54,854,212 (GRCm39) |
T89A |
probably benign |
Het |
Rab11fip2 |
T |
C |
19: 59,895,475 (GRCm39) |
D471G |
probably damaging |
Het |
Rnh1 |
A |
G |
7: 140,743,354 (GRCm39) |
V207A |
probably benign |
Het |
Sh3tc2 |
C |
A |
18: 62,094,108 (GRCm39) |
T49N |
probably benign |
Het |
Skint4 |
T |
C |
4: 111,977,060 (GRCm39) |
M158T |
possibly damaging |
Het |
Skint7 |
T |
A |
4: 111,837,463 (GRCm39) |
H80Q |
probably benign |
Het |
Smg1 |
A |
G |
7: 117,762,539 (GRCm39) |
|
probably benign |
Het |
Sostdc1 |
T |
C |
12: 36,364,411 (GRCm39) |
V40A |
probably benign |
Het |
Sptlc1 |
C |
A |
13: 53,489,394 (GRCm39) |
K437N |
possibly damaging |
Het |
Stat2 |
T |
C |
10: 128,119,622 (GRCm39) |
F503L |
probably damaging |
Het |
Syt16 |
A |
T |
12: 74,275,987 (GRCm39) |
|
probably null |
Het |
Tspyl1 |
T |
C |
10: 34,158,583 (GRCm39) |
S103P |
probably benign |
Het |
Ube4a |
A |
T |
9: 44,837,246 (GRCm39) |
S1053R |
probably damaging |
Het |
Vipr1 |
A |
G |
9: 121,482,959 (GRCm39) |
N58S |
probably damaging |
Het |
Zfp184 |
C |
A |
13: 22,143,578 (GRCm39) |
A428E |
probably damaging |
Het |
Zfp292 |
A |
C |
4: 34,808,593 (GRCm39) |
F1484V |
possibly damaging |
Het |
Zfp599 |
G |
A |
9: 22,160,840 (GRCm39) |
H442Y |
probably damaging |
Het |
Zfp944 |
G |
A |
17: 22,558,500 (GRCm39) |
T249I |
probably benign |
Het |
Zkscan14 |
T |
A |
5: 145,132,316 (GRCm39) |
H405L |
probably 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 |
|
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'- TCTATGAGGCCTGAAGCATAAAC -3'
(R):5'- AAATGGAGCAGGTCTGTTGGTC -3'
Sequencing Primer
(F):5'- AAATTTCTCCAAGCGGGCTG -3'
(R):5'- CATTTTCAGTGCAGTGCTAGGATGC -3'
|
Posted On |
2018-08-01 |