Incidental Mutation 'R8396:Birc2'
| ID |
647613 |
| 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 |
067812-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.906)
|
| Stock # |
R8396 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
7818228-7837065 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 7834301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 60
(V60A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091422
(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 benign
Transcript: ENSMUST00000074246
AA Change: V60A
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000091422
Gene: ENSMUSG00000057367
AA Change: V60A
| 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: V60A
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000140049
Gene: ENSMUSG00000057367
AA Change: V60A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef3 |
A |
G |
10: 18,528,280 (GRCm39) |
|
probably null |
Het |
| Arid1a |
T |
C |
4: 133,479,973 (GRCm39) |
Y317C |
probably damaging |
Het |
| Asxl2 |
A |
G |
12: 3,552,220 (GRCm39) |
T1321A |
probably benign |
Het |
| Bckdk |
A |
G |
7: 127,504,931 (GRCm39) |
Y129C |
probably damaging |
Het |
| Bmp8a |
T |
C |
4: 123,218,952 (GRCm39) |
H152R |
probably benign |
Het |
| C3 |
T |
C |
17: 57,528,029 (GRCm39) |
H730R |
probably benign |
Het |
| Ccser1 |
T |
A |
6: 61,289,088 (GRCm39) |
V417E |
probably benign |
Het |
| Cfap58 |
T |
A |
19: 48,017,540 (GRCm39) |
M800K |
probably damaging |
Het |
| Clip1 |
A |
G |
5: 123,780,627 (GRCm39) |
L352P |
probably damaging |
Het |
| Cr2 |
A |
G |
1: 194,840,376 (GRCm39) |
L522P |
probably damaging |
Het |
| Ctcf |
T |
A |
8: 106,393,379 (GRCm39) |
H347Q |
possibly damaging |
Het |
| Gm13271 |
A |
T |
4: 88,673,318 (GRCm39) |
M72L |
probably benign |
Het |
| Gpat4 |
GTGTT |
GT |
8: 23,669,498 (GRCm39) |
|
probably benign |
Het |
| Ighv5-8 |
C |
T |
12: 113,618,813 (GRCm39) |
A76V |
unknown |
Het |
| Irx5 |
G |
A |
8: 93,086,962 (GRCm39) |
G298D |
probably benign |
Het |
| Klf5 |
T |
C |
14: 99,539,670 (GRCm39) |
I361T |
possibly damaging |
Het |
| Lsm11 |
G |
A |
11: 45,835,591 (GRCm39) |
A50V |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,570,621 (GRCm39) |
K700R |
unknown |
Het |
| Muc5b |
A |
T |
7: 141,405,552 (GRCm39) |
T954S |
unknown |
Het |
| Nhsl1 |
A |
G |
10: 18,400,910 (GRCm39) |
N678S |
probably benign |
Het |
| Npsr1 |
T |
A |
9: 24,221,377 (GRCm39) |
I277N |
possibly damaging |
Het |
| Ntsr2 |
A |
G |
12: 16,706,821 (GRCm39) |
H283R |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,893,829 (GRCm39) |
I6746N |
probably benign |
Het |
| Obsl1 |
T |
C |
1: 75,480,350 (GRCm39) |
T425A |
probably benign |
Het |
| Pag1 |
T |
A |
3: 9,759,112 (GRCm39) |
E335D |
probably benign |
Het |
| Parp3 |
T |
A |
9: 106,351,447 (GRCm39) |
Q223L |
probably benign |
Het |
| Pogz |
T |
C |
3: 94,786,061 (GRCm39) |
V883A |
probably benign |
Het |
| Rsbn1l |
A |
T |
5: 21,132,665 (GRCm39) |
M198K |
probably benign |
Het |
| Sh3bgr |
A |
G |
16: 96,007,680 (GRCm39) |
|
probably null |
Het |
| Shc4 |
A |
G |
2: 125,471,617 (GRCm39) |
I600T |
probably damaging |
Het |
| Slc26a1 |
T |
C |
5: 108,821,715 (GRCm39) |
H74R |
probably benign |
Het |
| Slc7a11 |
A |
C |
3: 50,338,578 (GRCm39) |
I277S |
possibly damaging |
Het |
| Tep1 |
G |
T |
14: 51,074,529 (GRCm39) |
T1832N |
probably benign |
Het |
| Terf2 |
A |
G |
8: 107,809,613 (GRCm39) |
|
probably null |
Het |
| Tle4 |
G |
A |
19: 14,432,323 (GRCm39) |
Q458* |
probably null |
Het |
| Trim34b |
A |
T |
7: 103,979,083 (GRCm39) |
D110V |
probably damaging |
Het |
| Usp9y |
A |
T |
Y: 1,308,034 (GRCm39) |
N2267K |
possibly damaging |
Het |
| Vmn2r50 |
G |
A |
7: 9,781,639 (GRCm39) |
Q369* |
probably null |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zfp229 |
T |
C |
17: 21,965,077 (GRCm39) |
S436P |
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 |
|
|
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 |
|
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'- TGGCTGAAAGCAGAGTCTGTAC -3'
(R):5'- TTCATCTGGAAGTTTAAGCGGTC -3'
Sequencing Primer
(F):5'- AGTCTGTACAAAGCTGCAGC -3'
(R):5'- TACTACTCATGGACAAAACTGTCTC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation