Incidental Mutation 'R6325:Birc7'
| ID |
510228 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Birc7
|
| Ensembl Gene |
ENSMUSG00000038840 |
| Gene Name |
baculoviral IAP repeat-containing 7 |
| Synonyms |
ML-IAP, Livin, KIAP |
| MMRRC Submission |
044479-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R6325 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
180570816-180575803 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 180571243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 102
(D102N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104503
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108875]
|
| AlphaFold |
A2AWP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108875
AA Change: D102N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000104503
Gene: ENSMUSG00000038840
AA Change: D102N
| Domain | Start | End | E-Value | Type |
|---|
|
BIR
|
91 |
162 |
1.41e-32 |
SMART |
|
low complexity region
|
227 |
238 |
N/A |
INTRINSIC |
|
RING
|
239 |
272 |
1.65e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137859
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (30/30) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the inhibitor of apoptosis protein (IAP) family, and contains a single copy of a baculovirus IAP repeat (BIR) as well as a RING-type zinc finger domain. The BIR domain is essential for inhibitory activity and interacts with caspases, while the RING finger domain sometimes enhances antiapoptotic activity but does not inhibit apoptosis alone. Elevated levels of the encoded protein may be associated with cancer progression and play a role in chemotherapy sensitivity. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal retinal morphology and function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
T |
C |
2: 127,964,944 (GRCm39) |
I596T |
probably benign |
Het |
| Arhgef4 |
G |
A |
1: 34,762,558 (GRCm39) |
A605T |
unknown |
Het |
| Cct8 |
A |
C |
16: 87,292,615 (GRCm39) |
|
probably null |
Het |
| Cntn5 |
T |
C |
9: 10,144,328 (GRCm39) |
|
probably null |
Het |
| Cyp11a1 |
A |
G |
9: 57,932,851 (GRCm39) |
N396D |
probably benign |
Het |
| Dip2b |
T |
C |
15: 100,052,163 (GRCm39) |
S255P |
probably benign |
Het |
| Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
| Fancm |
T |
A |
12: 65,171,826 (GRCm39) |
M1822K |
probably damaging |
Het |
| Far2 |
T |
C |
6: 148,058,995 (GRCm39) |
V227A |
probably benign |
Het |
| Fbrsl1 |
A |
G |
5: 110,525,273 (GRCm39) |
F100L |
probably damaging |
Het |
| Gpd2 |
T |
C |
2: 57,194,408 (GRCm39) |
S104P |
probably damaging |
Het |
| Grp |
T |
C |
18: 66,006,824 (GRCm39) |
|
probably null |
Het |
| Hamp |
A |
C |
7: 30,643,328 (GRCm39) |
H27Q |
probably benign |
Het |
| Hecw1 |
T |
A |
13: 14,491,031 (GRCm39) |
S241C |
probably damaging |
Het |
| Itsn2 |
T |
A |
12: 4,756,351 (GRCm39) |
I1349N |
probably damaging |
Het |
| Nr4a2 |
A |
G |
2: 57,002,430 (GRCm39) |
Y8H |
probably damaging |
Het |
| Or2ak7 |
T |
A |
11: 58,575,354 (GRCm39) |
Y218* |
probably null |
Het |
| Or2w1 |
A |
T |
13: 21,317,245 (GRCm39) |
Q100L |
probably damaging |
Het |
| Pla2g2e |
T |
C |
4: 138,607,736 (GRCm39) |
Y39H |
probably damaging |
Het |
| Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
| Prss1l |
T |
C |
6: 41,373,590 (GRCm39) |
V151A |
probably benign |
Het |
| Ptpn20 |
A |
T |
14: 33,352,962 (GRCm39) |
T234S |
possibly damaging |
Het |
| Smarca2 |
T |
A |
19: 26,655,763 (GRCm39) |
V810E |
probably damaging |
Het |
| Taar2 |
A |
T |
10: 23,816,615 (GRCm39) |
M52L |
probably benign |
Het |
| Tex47 |
A |
T |
5: 7,354,935 (GRCm39) |
R39* |
probably null |
Het |
| Tnxb |
T |
A |
17: 34,911,398 (GRCm39) |
V1567D |
probably damaging |
Het |
| Ttll6 |
T |
C |
11: 96,026,331 (GRCm39) |
Y79H |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Zfp462 |
C |
T |
4: 55,080,680 (GRCm39) |
T1344I |
probably benign |
Het |
| Zfp804a |
A |
T |
2: 82,087,382 (GRCm39) |
I404L |
possibly damaging |
Het |
|
| Other mutations in Birc7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02092:Birc7
|
APN |
2 |
180,574,979 (GRCm39) |
missense |
probably benign |
0.09 |
|
PIT4514001:Birc7
|
UTSW |
2 |
180,573,099 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0427:Birc7
|
UTSW |
2 |
180,571,307 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0626:Birc7
|
UTSW |
2 |
180,573,098 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1597:Birc7
|
UTSW |
2 |
180,570,974 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2115:Birc7
|
UTSW |
2 |
180,572,642 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5557:Birc7
|
UTSW |
2 |
180,574,772 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5594:Birc7
|
UTSW |
2 |
180,575,129 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7459:Birc7
|
UTSW |
2 |
180,571,150 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7947:Birc7
|
UTSW |
2 |
180,575,103 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8886:Birc7
|
UTSW |
2 |
180,574,786 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACCCCACTGTCCGTGTAAC -3'
(R):5'- AAGCCCAGAATTTCATAGTGGC -3'
Sequencing Primer
(F):5'- GTCCGTGTAACCATGTCCTG -3'
(R):5'- CCCAGAATTTCATAGTGGCTTTGAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation