Incidental Mutation 'R8314:Birc2'
| ID |
641571 |
| 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 |
067719-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.906)
|
| Stock # |
R8314 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
7818228-7837065 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 7872942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125652
(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
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (67/67) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059G10Rik |
T |
A |
9: 122,777,993 (GRCm39) |
T84S |
probably benign |
Het |
| 4930533K18Rik |
A |
G |
10: 70,711,106 (GRCm39) |
T76A |
noncoding transcript |
Het |
| Adgrl1 |
C |
T |
8: 84,665,018 (GRCm39) |
T1235I |
probably damaging |
Het |
| Ak4 |
C |
T |
4: 101,320,782 (GRCm39) |
T197M |
possibly damaging |
Het |
| Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
| Alox12e |
T |
C |
11: 70,206,998 (GRCm39) |
M603V |
possibly damaging |
Het |
| Ap3d1 |
A |
T |
10: 80,559,373 (GRCm39) |
I267N |
possibly damaging |
Het |
| Arhgef2 |
T |
A |
3: 88,528,600 (GRCm39) |
I12N |
probably benign |
Het |
| Asnsd1 |
A |
T |
1: 53,385,814 (GRCm39) |
M520K |
probably damaging |
Het |
| B3galt5 |
T |
C |
16: 96,116,649 (GRCm39) |
L94P |
probably damaging |
Het |
| Cd177 |
T |
C |
7: 24,450,013 (GRCm39) |
S541G |
probably benign |
Het |
| Cdh8 |
T |
C |
8: 99,898,011 (GRCm39) |
D434G |
probably damaging |
Het |
| Cdkn3 |
A |
T |
14: 47,007,330 (GRCm39) |
|
silent |
Het |
| Ciita |
A |
T |
16: 10,328,852 (GRCm39) |
R379W |
probably damaging |
Het |
| Cntrl |
T |
A |
2: 35,065,155 (GRCm39) |
M2153K |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,208,258 (GRCm39) |
D1232E |
probably benign |
Het |
| Cyp4a30b |
A |
C |
4: 115,315,535 (GRCm39) |
H252P |
probably benign |
Het |
| Dad1 |
G |
A |
14: 54,491,269 (GRCm39) |
R11W |
probably damaging |
Het |
| Ddit3 |
A |
G |
10: 127,131,590 (GRCm39) |
|
probably null |
Het |
| Dusp22 |
G |
A |
13: 30,892,914 (GRCm39) |
|
probably benign |
Het |
| Dzank1 |
A |
G |
2: 144,344,878 (GRCm39) |
L293P |
probably damaging |
Het |
| Edf1 |
A |
G |
2: 25,447,977 (GRCm39) |
D5G |
probably damaging |
Het |
| Entrep3 |
T |
C |
3: 89,095,453 (GRCm39) |
|
probably null |
Het |
| Ep400 |
T |
A |
5: 110,903,619 (GRCm39) |
M327L |
unknown |
Het |
| Fam135a |
A |
T |
1: 24,061,002 (GRCm39) |
H1341Q |
possibly damaging |
Het |
| Fbxl3 |
C |
T |
14: 103,326,876 (GRCm39) |
V169I |
probably benign |
Het |
| Gm4787 |
A |
G |
12: 81,425,909 (GRCm39) |
L83P |
probably damaging |
Het |
| Habp4 |
A |
G |
13: 64,332,565 (GRCm39) |
E392G |
probably damaging |
Het |
| Hspg2 |
C |
A |
4: 137,266,986 (GRCm39) |
P1997Q |
probably benign |
Het |
| Ints9 |
T |
C |
14: 65,266,479 (GRCm39) |
S444P |
probably damaging |
Het |
| Kif18b |
G |
A |
11: 102,803,900 (GRCm39) |
S420L |
probably benign |
Het |
| Klhl17 |
T |
A |
4: 156,318,470 (GRCm39) |
M51L |
probably benign |
Het |
| Kmt2b |
C |
T |
7: 30,278,347 (GRCm39) |
E1555K |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 15,757,643 (GRCm39) |
D972E |
unknown |
Het |
| Mapk8ip3 |
A |
T |
17: 25,120,748 (GRCm39) |
S805R |
probably benign |
Het |
| Mmp13 |
G |
A |
9: 7,272,931 (GRCm39) |
C97Y |
probably damaging |
Het |
| Moxd1 |
T |
A |
10: 24,128,438 (GRCm39) |
N163K |
possibly damaging |
Het |
| Nbea |
T |
C |
3: 55,916,672 (GRCm39) |
I863V |
probably damaging |
Het |
| Nectin4 |
A |
G |
1: 171,212,295 (GRCm39) |
T298A |
probably benign |
Het |
| Net1 |
T |
C |
13: 3,962,672 (GRCm39) |
|
probably benign |
Het |
| Ntn1 |
T |
C |
11: 68,276,450 (GRCm39) |
D166G |
probably damaging |
Het |
| Opa3 |
C |
A |
7: 18,978,940 (GRCm39) |
A135E |
possibly damaging |
Het |
| Or1e31 |
T |
G |
11: 73,690,568 (GRCm39) |
N5T |
noncoding transcript |
Het |
| Or4c3d |
T |
C |
2: 89,882,441 (GRCm39) |
T76A |
probably benign |
Het |
| Or51v14 |
T |
C |
7: 103,261,254 (GRCm39) |
Q102R |
probably damaging |
Het |
| Or5w14 |
A |
G |
2: 87,541,546 (GRCm39) |
F235L |
probably benign |
Het |
| Or8g30 |
A |
G |
9: 39,230,601 (GRCm39) |
F103S |
probably damaging |
Het |
| Osbpl5 |
T |
C |
7: 143,248,833 (GRCm39) |
I608V |
probably benign |
Het |
| Phc1 |
A |
C |
6: 122,297,937 (GRCm39) |
S782R |
unknown |
Het |
| Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
| Pip5k1b |
T |
A |
19: 24,332,563 (GRCm39) |
T374S |
probably benign |
Het |
| Prkaa1 |
A |
G |
15: 5,208,354 (GRCm39) |
S541G |
probably damaging |
Het |
| Ptpn20 |
A |
G |
14: 33,344,504 (GRCm39) |
N143D |
possibly damaging |
Het |
| Rabep1 |
A |
G |
11: 70,784,486 (GRCm39) |
D207G |
possibly damaging |
Het |
| Rbbp8 |
G |
A |
18: 11,853,682 (GRCm39) |
M296I |
probably benign |
Het |
| Recql4 |
C |
A |
15: 76,594,380 (GRCm39) |
R46L |
probably damaging |
Het |
| Scgb2b18 |
T |
C |
7: 32,872,582 (GRCm39) |
I74M |
probably benign |
Het |
| Shc4 |
A |
G |
2: 125,497,536 (GRCm39) |
I391T |
possibly damaging |
Het |
| Slc38a4 |
A |
G |
15: 96,908,190 (GRCm39) |
F184L |
probably benign |
Het |
| Slc7a6 |
A |
G |
8: 106,895,590 (GRCm39) |
|
probably benign |
Het |
| Smim13 |
G |
T |
13: 41,426,110 (GRCm39) |
G49* |
probably null |
Het |
| Tbc1d19 |
A |
G |
5: 54,054,389 (GRCm39) |
D459G |
probably damaging |
Het |
| Tnpo1 |
T |
C |
13: 99,021,133 (GRCm39) |
N82S |
possibly damaging |
Het |
| Tpp2 |
G |
A |
1: 43,973,387 (GRCm39) |
V47I |
probably benign |
Het |
| Umodl1 |
G |
T |
17: 31,203,806 (GRCm39) |
A540S |
probably damaging |
Het |
| Vmn2r83 |
G |
A |
10: 79,317,313 (GRCm39) |
V519I |
possibly damaging |
Het |
| Zfp641 |
T |
C |
15: 98,188,464 (GRCm39) |
I139V |
probably damaging |
Het |
| Zfyve21 |
A |
T |
12: 111,789,715 (GRCm39) |
I60F |
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 |
|
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 |
|
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'- GCAGGTTCTCCTTCGGATCTAG -3'
(R):5'- AAGAGCCAAGAGCCTTCAAG -3'
Sequencing Primer
(F):5'- TTCGGATCTAGTCACCCCGG -3'
(R):5'- CTTTCAGTAAATGACACGAAGAGG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation