Incidental Mutation 'R1225:Blzf1'
ID |
152855 |
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 |
039294-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.321)
|
Stock # |
R1225 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
164117368-164135056 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 164127165 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 209
(E209G)
|
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: E216G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000027866 Gene: ENSMUSG00000026577 AA Change: E216G
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: E209G
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000083196 Gene: ENSMUSG00000026577 AA Change: E209G
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: E209G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113479 Gene: ENSMUSG00000026577 AA Change: E209G
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 |
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 |
|
Meta Mutation Damage Score |
0.6960 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730013G03Rik |
T |
A |
1: 192,515,953 (GRCm39) |
|
noncoding transcript |
Het |
Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
Ahnak |
T |
A |
19: 8,980,247 (GRCm39) |
D510E |
probably damaging |
Het |
Angptl4 |
C |
T |
17: 34,000,165 (GRCm39) |
A68T |
possibly damaging |
Het |
Arid1a |
A |
G |
4: 133,414,676 (GRCm39) |
V1185A |
unknown |
Het |
Atp2c2 |
C |
A |
8: 120,461,984 (GRCm39) |
Q286K |
probably damaging |
Het |
Bmp6 |
A |
G |
13: 38,530,257 (GRCm39) |
T117A |
probably benign |
Het |
Cmip |
T |
C |
8: 118,172,110 (GRCm39) |
F394L |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,739,238 (GRCm39) |
D330V |
probably damaging |
Het |
Crebbp |
A |
T |
16: 3,944,820 (GRCm39) |
S491R |
probably benign |
Het |
Dedd |
G |
A |
1: 171,167,863 (GRCm39) |
|
probably null |
Het |
Dennd4a |
A |
G |
9: 64,818,957 (GRCm39) |
H1704R |
probably benign |
Het |
Dicer1 |
C |
T |
12: 104,657,866 (GRCm39) |
V1903I |
probably damaging |
Het |
Dnah9 |
A |
G |
11: 65,761,886 (GRCm39) |
V3868A |
possibly damaging |
Het |
Eif5b |
A |
G |
1: 38,076,709 (GRCm39) |
I674V |
probably damaging |
Het |
F13a1 |
T |
C |
13: 37,209,825 (GRCm39) |
N47D |
probably benign |
Het |
Fancd2 |
T |
C |
6: 113,512,822 (GRCm39) |
S53P |
probably damaging |
Het |
Fsip1 |
C |
A |
2: 118,078,831 (GRCm39) |
L170F |
probably damaging |
Het |
Git2 |
A |
T |
5: 114,871,239 (GRCm39) |
|
probably benign |
Het |
Gm9742 |
T |
C |
13: 8,079,875 (GRCm39) |
|
noncoding transcript |
Het |
Heatr4 |
C |
T |
12: 84,024,820 (GRCm39) |
E334K |
probably benign |
Het |
Hoga1 |
T |
G |
19: 42,058,628 (GRCm39) |
V110G |
probably damaging |
Het |
Ighv6-4 |
T |
A |
12: 114,370,170 (GRCm39) |
D75V |
probably damaging |
Het |
Inhca |
A |
T |
9: 103,132,038 (GRCm39) |
|
probably benign |
Het |
Med15 |
G |
T |
16: 17,540,652 (GRCm39) |
S31R |
probably damaging |
Het |
Nbeal2 |
T |
C |
9: 110,461,954 (GRCm39) |
E1467G |
probably damaging |
Het |
Or2ag1 |
A |
T |
7: 106,313,731 (GRCm39) |
D52E |
probably benign |
Het |
Or2t6 |
T |
A |
14: 14,175,600 (GRCm38) |
I161F |
possibly damaging |
Het |
Or5ac19 |
T |
C |
16: 59,089,587 (GRCm39) |
T148A |
probably benign |
Het |
Papss1 |
T |
C |
3: 131,285,062 (GRCm39) |
|
probably benign |
Het |
Pde4d |
A |
T |
13: 110,086,755 (GRCm39) |
M610L |
probably benign |
Het |
Prickle4 |
T |
G |
17: 47,999,614 (GRCm39) |
|
probably null |
Het |
Sema3g |
A |
G |
14: 30,942,636 (GRCm39) |
Y79C |
probably damaging |
Het |
Setbp1 |
T |
A |
18: 78,901,423 (GRCm39) |
D748V |
probably damaging |
Het |
Slc46a2 |
A |
T |
4: 59,914,125 (GRCm39) |
V266E |
probably benign |
Het |
Slc9a8 |
T |
C |
2: 167,313,443 (GRCm39) |
I435T |
probably benign |
Het |
Snx29 |
T |
C |
16: 11,238,550 (GRCm39) |
|
probably benign |
Het |
Son |
C |
T |
16: 91,454,228 (GRCm39) |
R992C |
probably damaging |
Het |
Stxbp5 |
T |
C |
10: 9,688,135 (GRCm39) |
N389D |
possibly damaging |
Het |
Vmn1r28 |
C |
T |
6: 58,242,951 (GRCm39) |
Q265* |
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 |
|
R4660:Blzf1
|
UTSW |
1 |
164,134,062 (GRCm39) |
intron |
probably benign |
|
R5047:Blzf1
|
UTSW |
1 |
164,134,037 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5552:Blzf1
|
UTSW |
1 |
164,130,058 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- CGGCGGCTTTCTCCAGCAG -3'
(R):5'- AGCTTGGTTGTCTTCTTCCATCCTAGA -3'
Sequencing Primer
(F):5'- aggagggagagggggag -3'
(R):5'- TCTTCCATCCTAGATAAATCGTGAG -3'
|
Posted On |
2014-01-29 |