Incidental Mutation 'IGL03126:Bcl2l2'
| ID |
410172 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bcl2l2
|
| Ensembl Gene |
ENSMUSG00000089682 |
| Gene Name |
BCL2-like 2 |
| Synonyms |
Bcl-w, bclw, Gtrgal2, Gtrosa41 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.634)
|
| Stock # |
IGL03126
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
55120900-55125691 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55122224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 129
(Y129C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022806]
[ENSMUST00000133397]
[ENSMUST00000134077]
[ENSMUST00000172844]
[ENSMUST00000227108]
|
| AlphaFold |
P70345 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022806
AA Change: Y129C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022806
Gene: ENSMUSG00000089682
AA Change: Y129C
| Domain | Start | End | E-Value | Type |
|---|
|
BH4
|
6 |
32 |
1.28e-11 |
SMART |
|
BCL
|
46 |
144 |
1.22e-45 |
SMART |
|
low complexity region
|
172 |
188 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131243
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133397
AA Change: Y129C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116385
Gene: ENSMUSG00000089682
AA Change: Y129C
| Domain | Start | End | E-Value | Type |
|---|
|
BH4
|
6 |
32 |
1.28e-11 |
SMART |
|
BCL
|
46 |
144 |
1.22e-45 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134077
AA Change: Y129C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117229
Gene: ENSMUSG00000092232
AA Change: Y129C
| Domain | Start | End | E-Value | Type |
|---|
|
BH4
|
6 |
32 |
1.28e-11 |
SMART |
|
BCL
|
46 |
144 |
1.22e-45 |
SMART |
|
low complexity region
|
155 |
169 |
N/A |
INTRINSIC |
|
RRM
|
200 |
272 |
4.19e-17 |
SMART |
|
low complexity region
|
314 |
326 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172844
AA Change: Y15C
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133286
Gene: ENSMUSG00000089682
AA Change: Y15C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bcl-2
|
1 |
30 |
3.9e-7 |
PFAM |
|
Blast:BCL
|
31 |
53 |
1e-7 |
BLAST |
|
transmembrane domain
|
55 |
77 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227108
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators. Expression of this gene in cells has been shown to contribute to reduced cell apoptosis under cytotoxic conditions. Studies of the related gene in mice indicated a role in the survival of NGF- and BDNF-dependent neurons. Mutation and knockout studies of the mouse gene demonstrated an essential role in adult spermatogenesis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream PABPN1 (poly(A) binding protein, nuclear 1) gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous null mutants are male sterile with progressive loss of germ cells, Sertoli cells and Leydig cells beginning at puberty. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,617,563 (GRCm39) |
N562S |
probably benign |
Het |
| Abi1 |
A |
G |
2: 22,843,479 (GRCm39) |
V316A |
probably benign |
Het |
| Acsm1 |
A |
T |
7: 119,232,403 (GRCm39) |
Q100L |
possibly damaging |
Het |
| Akr1c21 |
T |
C |
13: 4,627,457 (GRCm39) |
Y184H |
possibly damaging |
Het |
| Anks3 |
T |
C |
16: 4,775,891 (GRCm39) |
T104A |
probably damaging |
Het |
| Cenpf |
T |
A |
1: 189,391,207 (GRCm39) |
K875I |
probably damaging |
Het |
| Cntnap1 |
T |
C |
11: 101,067,127 (GRCm39) |
V15A |
probably benign |
Het |
| Dnaaf9 |
A |
T |
2: 130,633,915 (GRCm39) |
|
probably null |
Het |
| Elmo3 |
C |
A |
8: 106,033,013 (GRCm39) |
R66S |
probably damaging |
Het |
| Elp1 |
A |
G |
4: 56,779,717 (GRCm39) |
S565P |
probably benign |
Het |
| Epn1 |
C |
A |
7: 5,098,684 (GRCm39) |
A370E |
probably benign |
Het |
| Esrrg |
T |
C |
1: 187,730,184 (GRCm39) |
|
probably benign |
Het |
| Fgd5 |
T |
G |
6: 92,042,145 (GRCm39) |
L1034R |
probably damaging |
Het |
| Fpgs |
A |
G |
2: 32,573,135 (GRCm39) |
V567A |
possibly damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| H3c3 |
T |
C |
13: 23,929,425 (GRCm39) |
K19R |
possibly damaging |
Het |
| Hsd17b14 |
T |
C |
7: 45,205,503 (GRCm39) |
F38S |
possibly damaging |
Het |
| Larp1 |
T |
C |
11: 57,941,703 (GRCm39) |
V712A |
possibly damaging |
Het |
| Mep1b |
T |
C |
18: 21,221,617 (GRCm39) |
F189S |
probably damaging |
Het |
| Mill1 |
T |
C |
7: 17,989,832 (GRCm39) |
V38A |
probably benign |
Het |
| Niban2 |
C |
T |
2: 32,766,398 (GRCm39) |
R13W |
possibly damaging |
Het |
| Npy4r |
T |
C |
14: 33,868,290 (GRCm39) |
I333V |
probably benign |
Het |
| Numa1 |
G |
T |
7: 101,649,874 (GRCm39) |
E1202* |
probably null |
Het |
| Or3a1b |
C |
T |
11: 74,012,610 (GRCm39) |
A165V |
probably benign |
Het |
| Or6k6 |
A |
G |
1: 173,945,276 (GRCm39) |
I102T |
probably benign |
Het |
| Oxr1 |
A |
T |
15: 41,683,645 (GRCm39) |
Q356L |
possibly damaging |
Het |
| Prdx2 |
T |
C |
8: 85,698,198 (GRCm39) |
F130L |
probably damaging |
Het |
| Rasa1 |
A |
T |
13: 85,404,515 (GRCm39) |
S248R |
possibly damaging |
Het |
| Rgs19 |
A |
G |
2: 181,333,114 (GRCm39) |
S49P |
probably benign |
Het |
| Rinl |
A |
G |
7: 28,495,075 (GRCm39) |
|
probably benign |
Het |
| Serpinb11 |
T |
C |
1: 107,307,654 (GRCm39) |
F362L |
probably damaging |
Het |
| Slamf8 |
T |
C |
1: 172,411,736 (GRCm39) |
H253R |
possibly damaging |
Het |
| Tet3 |
C |
A |
6: 83,353,769 (GRCm39) |
R829L |
probably damaging |
Het |
| Trappc8 |
A |
G |
18: 20,996,652 (GRCm39) |
L420P |
probably damaging |
Het |
| Ube2u |
A |
T |
4: 100,407,199 (GRCm39) |
*353Y |
probably null |
Het |
| Wbp1l |
A |
C |
19: 46,632,838 (GRCm39) |
D46A |
probably damaging |
Het |
| Zbtb21 |
A |
G |
16: 97,752,945 (GRCm39) |
V474A |
probably damaging |
Het |
|
| Other mutations in Bcl2l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R2656:Bcl2l2
|
UTSW |
14 |
55,122,889 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4042:Bcl2l2
|
UTSW |
14 |
55,122,091 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5278:Bcl2l2
|
UTSW |
14 |
55,122,251 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6129:Bcl2l2
|
UTSW |
14 |
55,122,202 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6234:Bcl2l2
|
UTSW |
14 |
55,122,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7205:Bcl2l2
|
UTSW |
14 |
55,122,058 (GRCm39) |
missense |
probably benign |
|
|
R7699:Bcl2l2
|
UTSW |
14 |
55,121,836 (GRCm39) |
start gained |
probably benign |
|
|
R7747:Bcl2l2
|
UTSW |
14 |
55,121,836 (GRCm39) |
start gained |
probably benign |
|
|
R7748:Bcl2l2
|
UTSW |
14 |
55,121,836 (GRCm39) |
start gained |
probably benign |
|
|
R7779:Bcl2l2
|
UTSW |
14 |
55,121,836 (GRCm39) |
start gained |
probably benign |
|
|
R7845:Bcl2l2
|
UTSW |
14 |
55,122,308 (GRCm39) |
missense |
unknown |
|
|
R7855:Bcl2l2
|
UTSW |
14 |
55,121,836 (GRCm39) |
start gained |
probably benign |
|
|
R8017:Bcl2l2
|
UTSW |
14 |
55,121,840 (GRCm39) |
start codon destroyed |
probably null |
0.86 |
|
R8427:Bcl2l2
|
UTSW |
14 |
55,122,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation