Incidental Mutation 'R3933:Bcl2l14'
| ID |
308555 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bcl2l14
|
| Ensembl Gene |
ENSMUSG00000030200 |
| Gene Name |
BCL2 like 14 |
| Synonyms |
9030625M01Rik, 4930452K23Rik, Bcl-G, 4933405K19Rik |
| MMRRC Submission |
040920-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R3933 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
134373292-134415687 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 134400771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 64
(D64G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032321]
[ENSMUST00000111960]
[ENSMUST00000127865]
[ENSMUST00000163589]
|
| AlphaFold |
Q9CPT0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032321
AA Change: D64G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000032321
Gene: ENSMUSG00000030200
AA Change: D64G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
|
SCOP:d1maz__
|
200 |
320 |
5e-23 |
SMART |
|
Blast:BCL
|
217 |
316 |
4e-43 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111960
AA Change: D64G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107591
Gene: ENSMUSG00000030200
AA Change: D64G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
|
SCOP:d1maz__
|
200 |
320 |
5e-23 |
SMART |
|
Blast:BCL
|
217 |
316 |
4e-43 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000127865
AA Change: D64G
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000115608
Gene: ENSMUSG00000030200
AA Change: D64G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142612
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163589
AA Change: D64G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132525
Gene: ENSMUSG00000030200
AA Change: D64G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
|
SCOP:d1maz__
|
200 |
320 |
5e-23 |
SMART |
|
Blast:BCL
|
217 |
316 |
4e-43 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205104
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.1%
|
| Validation Efficiency |
96% (43/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. Overexpression of this gene has been shown to induce apoptosis in cells. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported for this gene. [provided by RefSeq, May 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,304,856 (GRCm39) |
F3350L |
probably damaging |
Het |
| Acp6 |
T |
C |
3: 97,073,499 (GRCm39) |
V146A |
probably benign |
Het |
| Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
| Arhgef33 |
A |
G |
17: 80,680,749 (GRCm39) |
I630V |
probably benign |
Het |
| Astn2 |
G |
A |
4: 66,322,192 (GRCm39) |
R136C |
unknown |
Het |
| C1rl |
T |
A |
6: 124,485,781 (GRCm39) |
L384* |
probably null |
Het |
| Ccdc6 |
TCCGCCGCCGCC |
TCCGCCGCC |
10: 70,025,000 (GRCm39) |
|
probably benign |
Het |
| Coch |
T |
C |
12: 51,650,121 (GRCm39) |
I370T |
probably damaging |
Het |
| Ercc5 |
T |
A |
1: 44,207,016 (GRCm39) |
M643K |
probably benign |
Het |
| Fut8 |
A |
C |
12: 77,522,033 (GRCm39) |
K557N |
probably damaging |
Het |
| Hsdl2 |
T |
C |
4: 59,597,274 (GRCm39) |
Y88H |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,242,879 (GRCm39) |
V670A |
probably damaging |
Het |
| Itga8 |
A |
G |
2: 12,194,330 (GRCm39) |
I690T |
probably benign |
Het |
| Lepr |
T |
C |
4: 101,622,498 (GRCm39) |
|
probably benign |
Het |
| Matn2 |
T |
C |
15: 34,345,566 (GRCm39) |
|
probably null |
Het |
| Mei1 |
A |
G |
15: 81,967,353 (GRCm39) |
K310E |
possibly damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Msl3 |
C |
T |
X: 167,454,813 (GRCm39) |
A87T |
probably damaging |
Het |
| Nalf2 |
G |
A |
X: 98,865,470 (GRCm39) |
V266M |
possibly damaging |
Het |
| Ogdh |
T |
C |
11: 6,292,601 (GRCm39) |
V438A |
possibly damaging |
Het |
| Opa1 |
A |
T |
16: 29,429,698 (GRCm39) |
E401D |
probably damaging |
Het |
| Or4f17-ps1 |
T |
C |
2: 111,358,300 (GRCm39) |
Y232H |
probably damaging |
Het |
| Or5aq6 |
T |
A |
2: 86,923,106 (GRCm39) |
I212F |
probably benign |
Het |
| Parp2 |
G |
A |
14: 51,056,844 (GRCm39) |
V323M |
probably benign |
Het |
| Pip5k1a |
A |
G |
3: 94,979,314 (GRCm39) |
S161P |
probably benign |
Het |
| Pold3 |
T |
C |
7: 99,770,608 (GRCm39) |
E8G |
probably damaging |
Het |
| Pomt1 |
G |
A |
2: 32,135,631 (GRCm39) |
V332I |
probably benign |
Het |
| Ppp2ca |
T |
A |
11: 52,010,089 (GRCm39) |
N232K |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,101,318 (GRCm39) |
D2274V |
probably damaging |
Het |
| Pwwp2b |
G |
A |
7: 138,835,950 (GRCm39) |
V464I |
possibly damaging |
Het |
| Rgs7bp |
T |
C |
13: 105,189,506 (GRCm39) |
M98V |
probably benign |
Het |
| Rubcn |
A |
G |
16: 32,649,629 (GRCm39) |
|
probably null |
Het |
| Scai |
A |
T |
2: 38,965,064 (GRCm39) |
D593E |
probably benign |
Het |
| Slc24a2 |
T |
C |
4: 87,094,422 (GRCm39) |
T366A |
probably benign |
Het |
| Sp100 |
A |
G |
1: 85,608,830 (GRCm39) |
I320V |
probably benign |
Het |
| Syngr2 |
C |
A |
11: 117,704,243 (GRCm39) |
P206Q |
probably damaging |
Het |
| Tatdn3 |
A |
T |
1: 190,778,521 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
C |
T |
6: 12,555,225 (GRCm39) |
G220S |
probably benign |
Het |
| Vmn2r10 |
C |
A |
5: 109,150,088 (GRCm39) |
A319S |
possibly damaging |
Het |
| Vmn2r11 |
C |
T |
5: 109,201,260 (GRCm39) |
A415T |
probably damaging |
Het |
| Vmn2r88 |
A |
G |
14: 51,651,435 (GRCm39) |
M258V |
probably benign |
Het |
| Wiz |
G |
A |
17: 32,576,872 (GRCm39) |
R561C |
probably damaging |
Het |
| Yju2b |
G |
A |
8: 84,986,981 (GRCm39) |
A172V |
probably benign |
Het |
| Zfp422 |
T |
C |
6: 116,603,420 (GRCm39) |
K193R |
probably benign |
Het |
|
| Other mutations in Bcl2l14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01359:Bcl2l14
|
APN |
6 |
134,400,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02451:Bcl2l14
|
APN |
6 |
134,400,804 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1115:Bcl2l14
|
UTSW |
6 |
134,409,102 (GRCm39) |
splice site |
probably benign |
|
|
R1482:Bcl2l14
|
UTSW |
6 |
134,404,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1952:Bcl2l14
|
UTSW |
6 |
134,409,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3932:Bcl2l14
|
UTSW |
6 |
134,400,771 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5772:Bcl2l14
|
UTSW |
6 |
134,404,362 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6295:Bcl2l14
|
UTSW |
6 |
134,404,370 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7078:Bcl2l14
|
UTSW |
6 |
134,400,786 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7496:Bcl2l14
|
UTSW |
6 |
134,404,417 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7785:Bcl2l14
|
UTSW |
6 |
134,409,223 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7792:Bcl2l14
|
UTSW |
6 |
134,409,277 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7949:Bcl2l14
|
UTSW |
6 |
134,407,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8474:Bcl2l14
|
UTSW |
6 |
134,400,720 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8907:Bcl2l14
|
UTSW |
6 |
134,400,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8990:Bcl2l14
|
UTSW |
6 |
134,400,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Bcl2l14
|
UTSW |
6 |
134,404,334 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGTGTGTATGACCTGGAAGAC -3'
(R):5'- GAGCTGTTCACAAGCCTACC -3'
Sequencing Primer
(F):5'- ACATTCCCCTGGAGGATGATGATC -3'
(R):5'- TGCTCCACACTGCTCAGAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation