Incidental Mutation 'R3742:Bclaf3'
| ID |
270430 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bclaf3
|
| Ensembl Gene |
ENSMUSG00000044150 |
| Gene Name |
Bclaf1 and Thrap3 family member 3 |
| Synonyms |
LOC382252, A830080D01Rik |
| MMRRC Submission |
040728-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3742 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
X |
| Chromosomal Location |
158315639-158376077 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 158334828 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 41
(H41Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057180]
[ENSMUST00000112464]
[ENSMUST00000131623]
[ENSMUST00000144598]
|
| AlphaFold |
A2AG58 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057180
AA Change: H41Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000051031
Gene: ENSMUSG00000044150
AA Change: H41Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:THRAP3_BCLAF1
|
2 |
602 |
3e-202 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112464
AA Change: H41Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000108083
Gene: ENSMUSG00000044150
AA Change: H41Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:THRAP3_BCLAF1
|
2 |
666 |
9.9e-162 |
PFAM |
|
low complexity region
|
706 |
717 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131623
AA Change: H41Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000116320
Gene: ENSMUSG00000044150
AA Change: H41Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:THRAP3_BCLAF1
|
2 |
60 |
1.2e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144598
AA Change: H41Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (32/33) |
| MGI Phenotype |
PHENOTYPE: Male chimeras hemizygous for either of two different gene trapped alleles of this gene appear normal at E8.5. [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 |
|---|
| Atp8b2 |
C |
G |
3: 89,853,338 (GRCm39) |
A726P |
probably benign |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Bsn |
C |
A |
9: 107,982,938 (GRCm39) |
R3605M |
unknown |
Het |
| Ctso |
G |
A |
3: 81,859,556 (GRCm39) |
V288I |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 118,095,076 (GRCm39) |
M718T |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,604,058 (GRCm39) |
T842S |
probably damaging |
Het |
| Epb41l5 |
T |
C |
1: 119,532,973 (GRCm39) |
Q388R |
probably benign |
Het |
| Fbxo6 |
A |
G |
4: 148,234,090 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
A |
C |
4: 82,930,104 (GRCm39) |
Y281D |
probably damaging |
Het |
| Gm6489 |
T |
A |
1: 31,326,764 (GRCm39) |
|
noncoding transcript |
Het |
| Gtpbp2 |
A |
G |
17: 46,476,808 (GRCm39) |
T329A |
probably benign |
Het |
| Hemgn |
T |
C |
4: 46,396,421 (GRCm39) |
T272A |
possibly damaging |
Het |
| Hinfp |
A |
G |
9: 44,213,812 (GRCm39) |
C22R |
probably damaging |
Het |
| Hoxc13 |
G |
A |
15: 102,829,873 (GRCm39) |
G84D |
possibly damaging |
Het |
| Ing5 |
T |
A |
1: 93,740,398 (GRCm39) |
S106R |
probably damaging |
Het |
| Mbd6 |
G |
A |
10: 127,120,812 (GRCm39) |
|
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Nup210l |
A |
T |
3: 90,114,701 (GRCm39) |
M1759L |
probably benign |
Het |
| Or10ag52 |
A |
G |
2: 87,043,340 (GRCm39) |
I35V |
probably benign |
Het |
| Or5b106 |
A |
G |
19: 13,123,258 (GRCm39) |
F255S |
probably damaging |
Het |
| Or7e168 |
A |
T |
9: 19,720,195 (GRCm39) |
I194F |
probably benign |
Het |
| Or7g25 |
A |
G |
9: 19,159,979 (GRCm39) |
S239P |
possibly damaging |
Het |
| Pde4d |
T |
G |
13: 109,877,013 (GRCm39) |
V53G |
probably benign |
Het |
| Shisa9 |
G |
A |
16: 12,085,528 (GRCm39) |
R379Q |
probably damaging |
Het |
| Syngr4 |
T |
C |
7: 45,545,194 (GRCm39) |
E5G |
possibly damaging |
Het |
| Tiam2 |
A |
G |
17: 3,464,388 (GRCm39) |
D39G |
possibly damaging |
Het |
| Tmem88b |
A |
G |
4: 155,869,884 (GRCm39) |
L59P |
probably damaging |
Het |
| Zfp386 |
T |
A |
12: 116,023,170 (GRCm39) |
L296* |
probably null |
Het |
| Zfp605 |
G |
T |
5: 110,276,564 (GRCm39) |
G561W |
probably damaging |
Het |
|
| Other mutations in Bclaf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00743:Bclaf3
|
APN |
X |
158,341,357 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL01062:Bclaf3
|
APN |
X |
158,336,415 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02394:Bclaf3
|
APN |
X |
158,338,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02562:Bclaf3
|
APN |
X |
158,349,434 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02861:Bclaf3
|
APN |
X |
158,338,524 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R3741:Bclaf3
|
UTSW |
X |
158,334,828 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3788:Bclaf3
|
UTSW |
X |
158,349,492 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3789:Bclaf3
|
UTSW |
X |
158,349,492 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4202:Bclaf3
|
UTSW |
X |
158,336,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4205:Bclaf3
|
UTSW |
X |
158,336,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTAGATTAACCTTGAGTGGG -3'
(R):5'- CTCCATGTAGGTTGCTGCAC -3'
Sequencing Primer
(F):5'- CCTTGAGTGGGATAGTAGTAGAATTC -3'
(R):5'- GGCATATACTGAGATCGTCTGTCATC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation