Incidental Mutation 'R2005:Birc2'
| ID |
225382 |
| 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 |
040014-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.895)
|
| Stock # |
R2005 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
7818228-7837065 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 7860342 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 292
(C292Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013949]
[ENSMUST00000115672]
[ENSMUST00000115673]
[ENSMUST00000159323]
|
| AlphaFold |
Q62210 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000013949
AA Change: C292Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000013949
Gene: ENSMUSG00000032000
AA Change: C292Y
| 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 damaging
Transcript: ENSMUST00000115672
AA Change: C292Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111336
Gene: ENSMUSG00000032000
AA Change: C292Y
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.0%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
A |
12: 118,841,562 (GRCm39) |
A961V |
probably benign |
Het |
| Adcy10 |
A |
G |
1: 165,352,591 (GRCm39) |
Y475C |
probably benign |
Het |
| Adgrb3 |
T |
C |
1: 25,150,799 (GRCm39) |
M1145V |
probably benign |
Het |
| Akr1c21 |
A |
G |
13: 4,624,214 (GRCm39) |
T23A |
probably damaging |
Het |
| Ankrd33b |
A |
T |
15: 31,297,814 (GRCm39) |
S314R |
probably damaging |
Het |
| Apc |
T |
C |
18: 34,443,962 (GRCm39) |
|
probably null |
Het |
| Atg9a |
T |
A |
1: 75,162,635 (GRCm39) |
Q460L |
probably benign |
Het |
| Capn5 |
T |
C |
7: 97,778,570 (GRCm39) |
I350V |
probably benign |
Het |
| Cc2d2a |
G |
A |
5: 43,883,715 (GRCm39) |
|
probably null |
Het |
| Cdh22 |
T |
A |
2: 165,022,843 (GRCm39) |
E76V |
probably damaging |
Het |
| Cdh8 |
T |
C |
8: 99,760,103 (GRCm39) |
|
probably null |
Het |
| Cdkn1b |
ATTCTTCTTC |
ATTCTTCTTCTTC |
6: 134,898,919 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
T |
A |
10: 92,720,630 (GRCm39) |
D2608V |
unknown |
Het |
| Crebrf |
T |
C |
17: 26,961,857 (GRCm39) |
V318A |
possibly damaging |
Het |
| Cwf19l2 |
A |
T |
9: 3,430,720 (GRCm39) |
N351Y |
possibly damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,631,789 (GRCm39) |
M136K |
probably damaging |
Het |
| Ddx10 |
A |
G |
9: 53,151,775 (GRCm39) |
|
probably null |
Het |
| Ddx47 |
A |
G |
6: 134,995,084 (GRCm39) |
N92S |
probably benign |
Het |
| Ddx50 |
T |
A |
10: 62,476,243 (GRCm39) |
H306L |
probably benign |
Het |
| Dnajc27 |
A |
G |
12: 4,147,317 (GRCm39) |
T167A |
possibly damaging |
Het |
| Dscam |
T |
G |
16: 96,840,120 (GRCm39) |
K162N |
probably benign |
Het |
| Eif4h |
G |
A |
5: 134,656,531 (GRCm39) |
T53I |
probably benign |
Het |
| Elmo2 |
T |
C |
2: 165,140,199 (GRCm39) |
N332S |
probably benign |
Het |
| Ergic3 |
A |
G |
2: 155,853,028 (GRCm39) |
N157S |
possibly damaging |
Het |
| F2rl1 |
G |
T |
13: 95,649,782 (GRCm39) |
R367S |
probably damaging |
Het |
| Fbxo36 |
G |
A |
1: 84,877,790 (GRCm39) |
A151T |
probably benign |
Het |
| Foxf2 |
G |
T |
13: 31,810,124 (GRCm39) |
R21L |
unknown |
Het |
| Gmip |
T |
A |
8: 70,266,693 (GRCm39) |
H269Q |
probably benign |
Het |
| Gng4 |
T |
A |
13: 13,980,751 (GRCm39) |
V32E |
probably benign |
Het |
| Grm3 |
T |
C |
5: 9,639,793 (GRCm39) |
Y84C |
possibly damaging |
Het |
| Helz2 |
C |
T |
2: 180,873,122 (GRCm39) |
R2396H |
probably benign |
Het |
| Icosl |
A |
T |
10: 77,907,787 (GRCm39) |
M116L |
possibly damaging |
Het |
| Itgb3bp |
A |
C |
4: 99,702,295 (GRCm39) |
N16K |
probably benign |
Het |
| Kcnt2 |
A |
G |
1: 140,480,756 (GRCm39) |
M824V |
probably damaging |
Het |
| Mki67 |
T |
A |
7: 135,300,238 (GRCm39) |
K1599* |
probably null |
Het |
| Mmp25 |
G |
A |
17: 23,859,216 (GRCm39) |
R144W |
probably damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,953,068 (GRCm39) |
I450F |
possibly damaging |
Het |
| Mroh2b |
A |
T |
15: 4,946,640 (GRCm39) |
K480M |
probably damaging |
Het |
| Nbn |
T |
A |
4: 15,979,351 (GRCm39) |
D445E |
probably benign |
Het |
| Npbwr1 |
T |
A |
1: 5,986,570 (GRCm39) |
S315C |
probably damaging |
Het |
| Or10ag56 |
T |
A |
2: 87,139,792 (GRCm39) |
S240T |
probably benign |
Het |
| Or1e19 |
A |
T |
11: 73,316,065 (GRCm39) |
V248E |
probably damaging |
Het |
| Or5d38 |
A |
G |
2: 87,954,891 (GRCm39) |
L146P |
probably damaging |
Het |
| Or7g16 |
G |
A |
9: 18,726,801 (GRCm39) |
S263L |
probably benign |
Het |
| Pard3b |
A |
T |
1: 62,184,050 (GRCm39) |
E183D |
probably benign |
Het |
| Pde10a |
G |
A |
17: 9,147,923 (GRCm39) |
|
probably null |
Het |
| Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
| Prdm13 |
T |
C |
4: 21,685,695 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
T |
A |
2: 37,279,765 (GRCm39) |
K461* |
probably null |
Het |
| Reep2 |
C |
T |
18: 34,978,674 (GRCm39) |
T117M |
probably damaging |
Het |
| Rhbdd1 |
A |
G |
1: 82,318,531 (GRCm39) |
N138S |
probably benign |
Het |
| Rnf19a |
A |
T |
15: 36,241,916 (GRCm39) |
F708I |
possibly damaging |
Het |
| Robo2 |
G |
A |
16: 73,730,003 (GRCm39) |
H1069Y |
possibly damaging |
Het |
| Rpl9 |
C |
T |
5: 65,546,878 (GRCm39) |
V112I |
probably benign |
Het |
| Sec16a |
A |
C |
2: 26,329,092 (GRCm39) |
S974R |
probably benign |
Het |
| Sfrp5 |
A |
G |
19: 42,187,275 (GRCm39) |
M265T |
probably benign |
Het |
| Skint7 |
T |
C |
4: 111,842,047 (GRCm39) |
I305T |
probably benign |
Het |
| Slc6a7 |
T |
C |
18: 61,134,713 (GRCm39) |
D454G |
possibly damaging |
Het |
| Slco6c1 |
A |
G |
1: 97,009,214 (GRCm39) |
I407T |
probably damaging |
Het |
| Slfn8 |
A |
T |
11: 82,894,976 (GRCm39) |
M610K |
probably damaging |
Het |
| Spidr |
A |
G |
16: 15,865,913 (GRCm39) |
S299P |
probably damaging |
Het |
| Sptbn4 |
C |
T |
7: 27,065,844 (GRCm39) |
W2034* |
probably null |
Het |
| Stard9 |
T |
A |
2: 120,495,426 (GRCm39) |
F100L |
possibly damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Stc1 |
T |
C |
14: 69,269,096 (GRCm39) |
|
probably null |
Het |
| Sun2 |
T |
C |
15: 79,610,825 (GRCm39) |
E667G |
possibly damaging |
Het |
| Tacc2 |
T |
C |
7: 130,333,280 (GRCm39) |
S511P |
probably damaging |
Het |
| Tasp1 |
T |
G |
2: 139,819,598 (GRCm39) |
K202Q |
probably damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,939,546 (GRCm39) |
F501L |
probably damaging |
Het |
| Tgds |
A |
G |
14: 118,368,068 (GRCm39) |
V35A |
possibly damaging |
Het |
| Tubgcp6 |
G |
A |
15: 88,988,369 (GRCm39) |
T860I |
probably benign |
Het |
| Twf1 |
C |
T |
15: 94,483,328 (GRCm39) |
|
probably null |
Het |
| Vangl1 |
A |
G |
3: 102,070,782 (GRCm39) |
S385P |
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,696,618 (GRCm39) |
I263T |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,213,004 (GRCm39) |
L892P |
possibly damaging |
Het |
| Wnk4 |
T |
C |
11: 101,154,716 (GRCm39) |
C302R |
probably damaging |
Het |
| Zfp395 |
A |
G |
14: 65,626,334 (GRCm39) |
E191G |
possibly damaging |
Het |
| Zkscan17 |
A |
G |
11: 59,383,042 (GRCm39) |
L302P |
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 |
|
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 |
|
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'- TAACTATCACAATGCAAAGCACTTAA -3'
(R):5'- GTGCACTAGTTCATTCCCAGGA -3'
Sequencing Primer
(F):5'- TCTAGAAGTCTAGTCACAGAGGCTC -3'
(R):5'- TTCCCAGGAACTTGCAAGTG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation