Incidental Mutation 'R1272:Bzw1'
| ID |
151333 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bzw1
|
| Ensembl Gene |
ENSMUSG00000051223 |
| Gene Name |
basic leucine zipper and W2 domains 1 |
| Synonyms |
1200015E15Rik |
| MMRRC Submission |
039338-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1272 (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 58436979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 70
(L70P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050552]
[ENSMUST00000186949]
[ENSMUST00000188630]
[ENSMUST00000188898]
|
| AlphaFold |
Q9CQC6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050552
AA Change: L70P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051935
Gene: ENSMUSG00000051223
AA Change: L70P
| Domain | Start | End | E-Value | Type |
|---|
|
eIF5C
|
325 |
410 |
3.75e-37 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186949
AA Change: L102P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140319
Gene: ENSMUSG00000051223
AA Change: L102P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
25 |
N/A |
INTRINSIC |
|
eIF5C
|
357 |
442 |
1.8e-39 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188630
AA Change: L70P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188898
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
A |
G |
2: 151,313,977 (GRCm39) |
L567P |
probably damaging |
Het |
| Aldh3b1 |
A |
G |
19: 3,971,746 (GRCm39) |
L75P |
probably damaging |
Het |
| Ap1m2 |
A |
T |
9: 21,217,006 (GRCm39) |
V110E |
possibly damaging |
Het |
| Cacna1e |
T |
C |
1: 154,320,714 (GRCm39) |
K1347R |
probably damaging |
Het |
| Cd320 |
T |
C |
17: 34,067,138 (GRCm39) |
V209A |
possibly damaging |
Het |
| Cmya5 |
T |
C |
13: 93,231,620 (GRCm39) |
E1156G |
possibly damaging |
Het |
| Dop1a |
A |
G |
9: 86,403,477 (GRCm39) |
D1559G |
probably damaging |
Het |
| Kel |
A |
T |
6: 41,680,404 (GRCm39) |
W19R |
probably benign |
Het |
| Ksr1 |
G |
A |
11: 79,036,904 (GRCm39) |
Q68* |
probably null |
Het |
| Leo1 |
G |
A |
9: 75,357,795 (GRCm39) |
D397N |
possibly damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Mapre3 |
T |
A |
5: 31,019,232 (GRCm39) |
N25K |
probably damaging |
Het |
| Mki67 |
T |
A |
7: 135,302,143 (GRCm39) |
K964* |
probably null |
Het |
| Nav3 |
G |
C |
10: 109,572,860 (GRCm39) |
H1600D |
probably damaging |
Het |
| Rdh10 |
C |
A |
1: 16,178,240 (GRCm39) |
H171N |
probably damaging |
Het |
| Ric8a |
T |
C |
7: 140,442,289 (GRCm39) |
M513T |
probably benign |
Het |
| Rnf20 |
A |
G |
4: 49,651,496 (GRCm39) |
E654G |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tfcp2l1 |
C |
A |
1: 118,560,043 (GRCm39) |
P45Q |
probably damaging |
Het |
| Usp54 |
C |
T |
14: 20,611,178 (GRCm39) |
V1213I |
probably damaging |
Het |
| Zfp616 |
A |
T |
11: 73,976,062 (GRCm39) |
Q777L |
probably benign |
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 |
|
R1138:Bzw1
|
UTSW |
1 |
58,440,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1229:Bzw1
|
UTSW |
1 |
58,433,378 (GRCm39) |
missense |
probably benign |
0.45 |
|
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'- GAGCAGCCATGTAGTTCTTGACCAG -3'
(R):5'- TGGGACAGAGTCCAACCTATCTCAC -3'
Sequencing Primer
(F):5'- CCATGTAGTTCTTGACCAGGTAGG -3'
(R):5'- ACTATCTCCAACCCTTAGCTTACAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation