Incidental Mutation 'R5552:Blzf1'
| ID |
435161 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Blzf1
|
| Ensembl Gene |
ENSMUSG00000026577 |
| Gene Name |
basic leucine zipper nuclear factor 1 |
| Synonyms |
1700030G05Rik, Jem-1, Blzf1l, Golgin-45 |
| MMRRC Submission |
043109-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.321)
|
| Stock # |
R5552 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
164117368-164135056 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 164130058 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 91
(I91N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113479
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027866]
[ENSMUST00000086032]
[ENSMUST00000120447]
[ENSMUST00000193808]
|
| AlphaFold |
Q8R2X8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027866
AA Change: I98N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027866
Gene: ENSMUSG00000026577
AA Change: I98N
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
130 |
175 |
N/A |
INTRINSIC |
|
Pfam:DASH_Hsk3
|
191 |
236 |
2.9e-13 |
PFAM |
|
coiled coil region
|
243 |
276 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086032
AA Change: I91N
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000083196
Gene: ENSMUSG00000026577
AA Change: I91N
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
123 |
168 |
N/A |
INTRINSIC |
|
Pfam:DASH_Hsk3
|
184 |
230 |
2.6e-18 |
PFAM |
|
coiled coil region
|
236 |
269 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120447
AA Change: I91N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113479
Gene: ENSMUSG00000026577
AA Change: I91N
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
123 |
168 |
N/A |
INTRINSIC |
|
Pfam:DASH_Hsk3
|
184 |
230 |
2.6e-18 |
PFAM |
|
coiled coil region
|
236 |
269 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124007
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148884
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193808
|
| SMART Domains |
Protein: ENSMUSP00000141771
Gene: ENSMUSG00000026575
| Domain | Start | End | E-Value | Type |
|---|
|
DM10
|
22 |
110 |
1.9e-37 |
SMART |
|
NDK
|
110 |
248 |
1.75e-68 |
SMART |
|
NDK
|
256 |
394 |
1.11e-43 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
A |
G |
6: 88,813,530 (GRCm39) |
Y403H |
probably benign |
Het |
| Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
| Arhgap19 |
T |
C |
19: 41,772,819 (GRCm39) |
I291M |
probably benign |
Het |
| Cdh2 |
T |
C |
18: 16,773,520 (GRCm39) |
T270A |
possibly damaging |
Het |
| Chd5 |
T |
A |
4: 152,470,272 (GRCm39) |
M1906K |
possibly damaging |
Het |
| Cpsf1 |
T |
C |
15: 76,483,846 (GRCm39) |
D799G |
probably benign |
Het |
| Csnk1g3 |
T |
C |
18: 54,065,355 (GRCm39) |
F313L |
probably benign |
Het |
| Cyfip1 |
T |
C |
7: 55,521,855 (GRCm39) |
V53A |
possibly damaging |
Het |
| Dcst1 |
T |
C |
3: 89,272,373 (GRCm39) |
D30G |
probably benign |
Het |
| Dlgap2 |
G |
T |
8: 14,881,342 (GRCm39) |
G805* |
probably null |
Het |
| Dot1l |
CCAGCCCCACCCTCAGCC |
CCAGCC |
10: 80,619,462 (GRCm39) |
|
probably benign |
Het |
| Epha8 |
T |
C |
4: 136,659,210 (GRCm39) |
N843S |
probably damaging |
Het |
| Evi5 |
A |
T |
5: 107,966,855 (GRCm39) |
V222E |
probably damaging |
Het |
| Gli1 |
C |
A |
10: 127,166,131 (GRCm39) |
A1041S |
probably benign |
Het |
| Glipr1l1 |
A |
T |
10: 111,898,243 (GRCm39) |
Q116L |
probably benign |
Het |
| H3c4 |
A |
G |
13: 23,760,295 (GRCm39) |
D107G |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,480,914 (GRCm39) |
L2985Q |
possibly damaging |
Het |
| Hk2 |
G |
T |
6: 82,707,804 (GRCm39) |
R694S |
possibly damaging |
Het |
| Htt |
A |
G |
5: 34,979,118 (GRCm39) |
M834V |
probably benign |
Het |
| Itpr2 |
A |
G |
6: 146,195,578 (GRCm39) |
Y1600H |
probably benign |
Het |
| Med1 |
A |
T |
11: 98,057,157 (GRCm39) |
Y340* |
probably null |
Het |
| Mov10l1 |
T |
A |
15: 88,938,569 (GRCm39) |
|
probably null |
Het |
| Mrc1 |
T |
C |
2: 14,284,768 (GRCm39) |
F586L |
probably benign |
Het |
| Mrrf |
T |
A |
2: 36,037,973 (GRCm39) |
D81E |
possibly damaging |
Het |
| Nod1 |
A |
G |
6: 54,921,616 (GRCm39) |
F234S |
probably damaging |
Het |
| Odad2 |
A |
G |
18: 7,285,360 (GRCm39) |
V267A |
possibly damaging |
Het |
| Or10ak9 |
T |
A |
4: 118,726,665 (GRCm39) |
I228N |
probably damaging |
Het |
| Or6c69c |
T |
C |
10: 129,911,014 (GRCm39) |
V245A |
probably damaging |
Het |
| Pde4a |
T |
C |
9: 21,112,682 (GRCm39) |
V343A |
probably damaging |
Het |
| Pmfbp1 |
T |
A |
8: 110,258,383 (GRCm39) |
L649Q |
probably damaging |
Het |
| Polq |
A |
G |
16: 36,914,872 (GRCm39) |
I2511V |
possibly damaging |
Het |
| Pramel51 |
T |
A |
12: 88,145,135 (GRCm39) |
T64S |
probably benign |
Het |
| Serac1 |
T |
A |
17: 6,106,967 (GRCm39) |
R361* |
probably null |
Het |
| Serpina3g |
T |
C |
12: 104,206,595 (GRCm39) |
V132A |
probably damaging |
Het |
| Thada |
A |
C |
17: 84,736,558 (GRCm39) |
S908A |
probably benign |
Het |
| Zfp280b |
C |
T |
10: 75,875,497 (GRCm39) |
Q459* |
probably null |
Het |
|
| Other mutations in Blzf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01135:Blzf1
|
APN |
1 |
164,131,499 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01445:Blzf1
|
APN |
1 |
164,130,189 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02448:Blzf1
|
APN |
1 |
164,123,350 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
FR4737:Blzf1
|
UTSW |
1 |
164,131,486 (GRCm39) |
frame shift |
probably null |
|
|
R0855:Blzf1
|
UTSW |
1 |
164,119,950 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1070:Blzf1
|
UTSW |
1 |
164,131,499 (GRCm39) |
unclassified |
probably benign |
|
|
R1225:Blzf1
|
UTSW |
1 |
164,127,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4660:Blzf1
|
UTSW |
1 |
164,134,062 (GRCm39) |
intron |
probably benign |
|
|
R5047:Blzf1
|
UTSW |
1 |
164,134,037 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5641:Blzf1
|
UTSW |
1 |
164,134,038 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6677:Blzf1
|
UTSW |
1 |
164,130,181 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7085:Blzf1
|
UTSW |
1 |
164,129,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7233:Blzf1
|
UTSW |
1 |
164,123,512 (GRCm39) |
splice site |
probably null |
|
|
R7293:Blzf1
|
UTSW |
1 |
164,123,452 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7801:Blzf1
|
UTSW |
1 |
164,123,478 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8669:Blzf1
|
UTSW |
1 |
164,130,113 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8712:Blzf1
|
UTSW |
1 |
164,125,859 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9657:Blzf1
|
UTSW |
1 |
164,134,023 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCCTTCTTTGTCCTGAAG -3'
(R):5'- TACTTCGACCCCAATCCGAG -3'
Sequencing Primer
(F):5'- GAAGTAGCCTCCTTTCAGAATTCTTG -3'
(R):5'- CCCAATCCGAGGAGCAGGAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation