Incidental Mutation 'R4028:Birc2'
| ID |
313095 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.906)
|
| Stock # |
R4028 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
7818228-7837065 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7819352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 520
(N520S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074246]
[ENSMUST00000190341]
|
| AlphaFold |
Q62210 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074246
AA Change: N520S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000091422
Gene: ENSMUSG00000057367
AA Change: N520S
| 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 benign
Transcript: ENSMUST00000190341
AA Change: N520S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000140049
Gene: ENSMUSG00000057367
AA Change: N520S
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.2%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
A |
T |
7: 133,531,725 (GRCm39) |
N503K |
probably damaging |
Het |
| Anapc2 |
T |
A |
2: 25,167,750 (GRCm39) |
I439N |
probably damaging |
Het |
| Ank |
A |
G |
15: 27,544,343 (GRCm39) |
N35D |
probably damaging |
Het |
| C030005K15Rik |
T |
C |
10: 97,561,404 (GRCm39) |
Y109C |
unknown |
Het |
| Chrna5 |
T |
C |
9: 54,905,370 (GRCm39) |
W61R |
probably damaging |
Het |
| Clec1b |
G |
A |
6: 129,378,774 (GRCm39) |
R87H |
probably benign |
Het |
| Cox7a2l |
A |
G |
17: 83,810,069 (GRCm39) |
I123T |
probably benign |
Het |
| Cyp2j5 |
A |
T |
4: 96,529,653 (GRCm39) |
Y239* |
probably null |
Het |
| Dnajc6 |
G |
A |
4: 101,474,054 (GRCm39) |
C485Y |
probably damaging |
Het |
| Dync1i1 |
C |
T |
6: 5,961,842 (GRCm39) |
S341F |
probably damaging |
Het |
| Fbln1 |
A |
G |
15: 85,111,317 (GRCm39) |
N157S |
probably benign |
Het |
| Get1 |
T |
C |
16: 95,946,784 (GRCm39) |
|
probably null |
Het |
| Gpatch2 |
A |
G |
1: 186,958,337 (GRCm39) |
S231G |
possibly damaging |
Het |
| Grin2b |
T |
C |
6: 135,713,433 (GRCm39) |
D816G |
probably damaging |
Het |
| Kndc1 |
T |
A |
7: 139,509,941 (GRCm39) |
F1261Y |
probably damaging |
Het |
| Lefty1 |
T |
C |
1: 180,765,346 (GRCm39) |
S305P |
probably benign |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Mrc1 |
T |
C |
2: 14,243,059 (GRCm39) |
S62P |
probably damaging |
Het |
| Ntrk3 |
T |
C |
7: 77,842,458 (GRCm39) |
E790G |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Oog4 |
A |
T |
4: 143,166,770 (GRCm39) |
N11K |
probably benign |
Het |
| Or4c3 |
T |
C |
2: 89,851,567 (GRCm39) |
N281S |
probably damaging |
Het |
| Or52k2 |
A |
T |
7: 102,254,500 (GRCm39) |
D313V |
possibly damaging |
Het |
| Pibf1 |
A |
G |
14: 99,416,777 (GRCm39) |
E450G |
probably damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,350,603 (GRCm39) |
S483T |
possibly damaging |
Het |
| Pkdrej |
A |
T |
15: 85,701,693 (GRCm39) |
N1414K |
probably benign |
Het |
| Pld2 |
A |
G |
11: 70,445,731 (GRCm39) |
N655S |
probably damaging |
Het |
| Pramel28 |
T |
A |
4: 143,692,354 (GRCm39) |
T216S |
probably benign |
Het |
| Rcn1 |
G |
T |
2: 105,229,395 (GRCm39) |
Y52* |
probably null |
Het |
| Reck |
T |
C |
4: 43,922,931 (GRCm39) |
I402T |
probably damaging |
Het |
| Shisal2a |
G |
T |
4: 108,240,412 (GRCm39) |
C43* |
probably null |
Het |
| Slc28a3 |
T |
C |
13: 58,758,570 (GRCm39) |
S18G |
probably benign |
Het |
| Slc7a1 |
C |
A |
5: 148,282,622 (GRCm39) |
C75F |
probably benign |
Het |
| Snrnp200 |
A |
G |
2: 127,079,486 (GRCm39) |
D1865G |
probably damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,769,344 (GRCm39) |
I378N |
probably damaging |
Het |
| Trim3 |
A |
G |
7: 105,267,452 (GRCm39) |
V309A |
probably benign |
Het |
| Tshz1 |
T |
C |
18: 84,032,954 (GRCm39) |
K485E |
possibly damaging |
Het |
| Zdhhc11 |
T |
C |
13: 74,125,390 (GRCm39) |
L210P |
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 |
|
|
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'- ACCTGAAACGTCTTCTGTTGG -3'
(R):5'- ACAGTTGACACATGTCCTTCC -3'
Sequencing Primer
(F):5'- CTGAAACGTCTTCTGTTGGAATATAC -3'
(R):5'- CTATCCTGGATAATCTTCTTGAGGC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation