Incidental Mutation 'R1138:Bzw1'
| ID |
95255 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bzw1
|
| Ensembl Gene |
ENSMUSG00000051223 |
| Gene Name |
basic leucine zipper and W2 domains 1 |
| Synonyms |
1200015E15Rik |
| MMRRC Submission |
039211-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1138 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
58432057-58446512 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58440545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 173
(Y173H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050552]
[ENSMUST00000186949]
[ENSMUST00000188630]
[ENSMUST00000188898]
|
| AlphaFold |
Q9CQC6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050552
AA Change: Y232H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000051935
Gene: ENSMUSG00000051223
AA Change: Y232H
| Domain | Start | End | E-Value | Type |
|---|
|
eIF5C
|
325 |
410 |
3.75e-37 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186949
AA Change: Y264H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140319
Gene: ENSMUSG00000051223
AA Change: Y264H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
25 |
N/A |
INTRINSIC |
|
eIF5C
|
357 |
442 |
1.8e-39 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188630
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188898
AA Change: Y173H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,967,497 (GRCm39) |
N974K |
probably benign |
Het |
| Brd8dc |
C |
T |
18: 34,713,297 (GRCm39) |
V258I |
probably benign |
Het |
| Bub1b |
C |
T |
2: 118,453,570 (GRCm39) |
T467I |
probably benign |
Het |
| Chl1 |
A |
G |
6: 103,670,140 (GRCm39) |
D526G |
probably benign |
Het |
| Dnajc22 |
AGACACT |
A |
15: 99,002,308 (GRCm39) |
|
probably benign |
Het |
| Dstyk |
A |
G |
1: 132,391,224 (GRCm39) |
N920S |
probably benign |
Het |
| Glra3 |
A |
G |
8: 56,542,011 (GRCm39) |
|
probably null |
Het |
| Hpgd |
G |
A |
8: 56,760,712 (GRCm39) |
M136I |
probably benign |
Het |
| Igfbp2 |
A |
G |
1: 72,888,257 (GRCm39) |
D133G |
probably damaging |
Het |
| Lin54 |
A |
G |
5: 100,591,993 (GRCm39) |
M642T |
probably damaging |
Het |
| Map7d1 |
T |
C |
4: 126,135,912 (GRCm39) |
T99A |
possibly damaging |
Het |
| Mfsd4b5 |
C |
T |
10: 39,851,150 (GRCm39) |
C35Y |
probably damaging |
Het |
| Mycbp2 |
G |
T |
14: 103,412,262 (GRCm39) |
N2570K |
possibly damaging |
Het |
| Nr4a2 |
T |
C |
2: 57,002,391 (GRCm39) |
S21G |
probably damaging |
Het |
| Oacyl |
T |
A |
18: 65,858,521 (GRCm39) |
L209Q |
probably damaging |
Het |
| Or4c125 |
T |
C |
2: 89,170,434 (GRCm39) |
I71V |
probably benign |
Het |
| Pkd1 |
C |
A |
17: 24,805,006 (GRCm39) |
N3218K |
probably damaging |
Het |
| Scyl3 |
A |
G |
1: 163,761,234 (GRCm39) |
N46S |
possibly damaging |
Het |
| Sh2d3c |
G |
T |
2: 32,639,417 (GRCm39) |
R349L |
probably benign |
Het |
| Siae |
G |
A |
9: 37,553,988 (GRCm39) |
R366H |
probably damaging |
Het |
| Tmem108 |
T |
C |
9: 103,376,168 (GRCm39) |
N427S |
possibly damaging |
Het |
|
| Other mutations in Bzw1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00272:Bzw1
|
APN |
1 |
58,442,101 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL00583:Bzw1
|
APN |
1 |
58,440,494 (GRCm39) |
splice site |
probably benign |
|
|
IGL00816:Bzw1
|
APN |
1 |
58,438,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01625:Bzw1
|
APN |
1 |
58,440,599 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1229:Bzw1
|
UTSW |
1 |
58,433,378 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1272:Bzw1
|
UTSW |
1 |
58,436,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1837:Bzw1
|
UTSW |
1 |
58,439,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4491:Bzw1
|
UTSW |
1 |
58,443,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5525:Bzw1
|
UTSW |
1 |
58,442,065 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5641:Bzw1
|
UTSW |
1 |
58,436,883 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7794:Bzw1
|
UTSW |
1 |
58,439,959 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8214:Bzw1
|
UTSW |
1 |
58,444,196 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9077:Bzw1
|
UTSW |
1 |
58,438,190 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0050:Bzw1
|
UTSW |
1 |
58,440,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGTGTCCTTCTGGCTAATGGAAC -3'
(R):5'- ATCTGCACAAGAGCAGCTTACGTCC -3'
Sequencing Primer
(F):5'- AGCAGCTTTTGCTGTAAAGCTC -3'
(R):5'- AGCAGCTTACGTCCTTGAATG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation