Incidental Mutation 'R6747:Birc2'
| ID |
530595 |
| 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 |
044864-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.895)
|
| Stock # |
R6747 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
7818228-7837065 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 7860262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013949]
[ENSMUST00000115672]
[ENSMUST00000115673]
[ENSMUST00000159323]
|
| AlphaFold |
Q62210 |
| Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000115672
|
| SMART Domains |
Protein: ENSMUSP00000111336
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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.0%
|
| Validation Efficiency |
97% (68/70) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
C |
T |
3: 121,919,962 (GRCm39) |
|
probably null |
Het |
| Acyp1 |
C |
T |
12: 85,325,679 (GRCm39) |
V107I |
probably null |
Het |
| Aftph |
T |
C |
11: 20,676,144 (GRCm39) |
|
probably null |
Het |
| Agtpbp1 |
A |
T |
13: 59,692,167 (GRCm39) |
|
probably null |
Het |
| Arhgap15 |
C |
A |
2: 44,006,689 (GRCm39) |
P269T |
probably damaging |
Het |
| Arhgap30 |
T |
C |
1: 171,235,297 (GRCm39) |
V557A |
probably damaging |
Het |
| Asb3 |
T |
A |
11: 31,031,493 (GRCm39) |
M410K |
probably benign |
Het |
| B4galnt2 |
T |
C |
11: 95,759,460 (GRCm39) |
|
probably null |
Het |
| Cav2 |
A |
T |
6: 17,286,950 (GRCm39) |
N69Y |
probably damaging |
Het |
| Cc2d2b |
G |
A |
19: 40,784,111 (GRCm39) |
C826Y |
probably benign |
Het |
| Cenpf |
T |
A |
1: 189,385,051 (GRCm39) |
T2410S |
probably benign |
Het |
| Chchd1 |
A |
G |
14: 20,753,448 (GRCm39) |
D24G |
probably benign |
Het |
| Cmip |
G |
A |
8: 118,163,618 (GRCm39) |
G450S |
probably benign |
Het |
| Col11a1 |
C |
T |
3: 114,006,099 (GRCm39) |
Q534* |
probably null |
Het |
| Col3a1 |
G |
T |
1: 45,377,782 (GRCm39) |
|
probably benign |
Het |
| Cox4i1 |
T |
C |
8: 121,399,969 (GRCm39) |
I31T |
possibly damaging |
Het |
| Cstf3 |
G |
T |
2: 104,477,112 (GRCm39) |
V168F |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,873,154 (GRCm39) |
I352T |
probably benign |
Het |
| Ddx52 |
T |
C |
11: 83,846,128 (GRCm39) |
V456A |
probably damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,323,372 (GRCm39) |
H1337Q |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,675,221 (GRCm39) |
T369A |
probably benign |
Het |
| Dppa1 |
T |
A |
11: 46,516,422 (GRCm39) |
I8F |
unknown |
Het |
| Ebf1 |
G |
T |
11: 44,774,641 (GRCm39) |
V213F |
probably damaging |
Het |
| Foxb2 |
C |
A |
19: 16,850,197 (GRCm39) |
E270* |
probably null |
Het |
| Gclc |
A |
T |
9: 77,695,527 (GRCm39) |
R450W |
probably damaging |
Het |
| Grin2d |
T |
C |
7: 45,511,692 (GRCm39) |
E251G |
probably damaging |
Het |
| Hal |
A |
T |
10: 93,336,539 (GRCm39) |
N423Y |
probably damaging |
Het |
| Krtap4-8 |
T |
A |
11: 99,670,917 (GRCm39) |
I185F |
unknown |
Het |
| Lrp3 |
T |
A |
7: 34,910,862 (GRCm39) |
Q61L |
probably benign |
Het |
| Met |
A |
C |
6: 17,571,466 (GRCm39) |
Q1296H |
probably damaging |
Het |
| Mphosph9 |
T |
A |
5: 124,435,762 (GRCm39) |
N557I |
possibly damaging |
Het |
| Mrpl46 |
C |
A |
7: 78,432,729 (GRCm39) |
W16C |
probably benign |
Het |
| Myh13 |
G |
A |
11: 67,241,245 (GRCm39) |
R874Q |
probably damaging |
Het |
| Nelfb |
G |
A |
2: 25,093,393 (GRCm39) |
T453I |
probably benign |
Het |
| Nos2 |
A |
G |
11: 78,843,780 (GRCm39) |
D909G |
probably damaging |
Het |
| Nr5a2 |
T |
C |
1: 136,810,082 (GRCm39) |
E431G |
possibly damaging |
Het |
| Nsmce2 |
A |
G |
15: 59,463,573 (GRCm39) |
D149G |
probably benign |
Het |
| Or52b1 |
C |
T |
7: 104,979,234 (GRCm39) |
R55H |
probably benign |
Het |
| Or5ac21 |
T |
C |
16: 59,124,004 (GRCm39) |
F164L |
probably benign |
Het |
| Pcbp4 |
C |
A |
9: 106,337,847 (GRCm39) |
|
probably null |
Het |
| Peg10 |
A |
G |
6: 4,757,137 (GRCm39) |
|
probably benign |
Het |
| Pms2 |
C |
T |
5: 143,862,237 (GRCm39) |
P154L |
probably benign |
Het |
| Pou6f2 |
A |
C |
13: 18,303,772 (GRCm39) |
L112R |
probably benign |
Het |
| Pramel30 |
T |
C |
4: 144,059,548 (GRCm39) |
W420R |
probably benign |
Het |
| Prdm6 |
A |
T |
18: 53,598,118 (GRCm39) |
|
probably benign |
Het |
| Prob1 |
G |
A |
18: 35,788,207 (GRCm39) |
R12W |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 51,968,275 (GRCm39) |
|
probably null |
Het |
| Rpl9-ps6 |
A |
G |
19: 32,443,543 (GRCm39) |
S137P |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCAGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
| Sec23ip |
A |
G |
7: 128,354,573 (GRCm39) |
|
silent |
Het |
| Slc38a9 |
T |
C |
13: 112,826,714 (GRCm39) |
C151R |
probably benign |
Het |
| Slc39a8 |
T |
C |
3: 135,554,941 (GRCm39) |
|
probably null |
Het |
| Slc6a18 |
C |
A |
13: 73,826,110 (GRCm39) |
|
probably benign |
Het |
| Snw1 |
T |
C |
12: 87,511,480 (GRCm39) |
D57G |
probably damaging |
Het |
| Sox6 |
C |
G |
7: 115,140,966 (GRCm39) |
R505P |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,387,039 (GRCm39) |
|
probably null |
Het |
| Spire2 |
C |
T |
8: 124,083,585 (GRCm39) |
R190C |
probably damaging |
Het |
| Stard9 |
A |
C |
2: 120,528,864 (GRCm39) |
H1707P |
possibly damaging |
Het |
| Tenm3 |
G |
T |
8: 48,796,278 (GRCm39) |
T237K |
probably damaging |
Het |
| Themis2 |
T |
A |
4: 132,523,573 (GRCm39) |
E31V |
possibly damaging |
Het |
| Trim56 |
T |
G |
5: 137,143,375 (GRCm39) |
Q47P |
probably damaging |
Het |
| Trim58 |
T |
C |
11: 58,542,090 (GRCm39) |
I350T |
probably benign |
Het |
| Ttll7 |
C |
T |
3: 146,649,811 (GRCm39) |
P639S |
probably benign |
Het |
| Ubxn6 |
A |
G |
17: 56,377,650 (GRCm39) |
|
probably null |
Het |
| Vmn2r114 |
A |
T |
17: 23,528,850 (GRCm39) |
F417L |
probably benign |
Het |
| Vmn2r29 |
T |
A |
7: 7,234,421 (GRCm39) |
M822L |
probably benign |
Het |
| Vps9d1 |
T |
C |
8: 123,980,746 (GRCm39) |
D27G |
probably damaging |
Het |
| Wdr3 |
C |
T |
3: 100,046,040 (GRCm39) |
R931Q |
probably damaging |
Het |
| Whamm |
G |
A |
7: 81,228,050 (GRCm39) |
|
probably null |
Het |
| Zcchc24 |
T |
C |
14: 25,757,457 (GRCm39) |
H142R |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,806,894 (GRCm39) |
K2050R |
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 |
|
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'- AGCAGGCTCACAGTGCTTG -3'
(R):5'- CGGGCTTTTATTATACAGGTAAGAAAC -3'
Sequencing Primer
(F):5'- TCTAGAAGTCTAGTCACAGAGGCTC -3'
(R):5'- GACACAGTGATGATGTCAAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation