Incidental Mutation 'R0855:Blzf1'
| ID |
82675 |
| 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 |
039034-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.255)
|
| Stock # |
R0855 (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 164119950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 353
(T353A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027866]
[ENSMUST00000027867]
[ENSMUST00000086032]
[ENSMUST00000120447]
|
| AlphaFold |
Q8R2X8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027866
AA Change: T360A
PolyPhen 2
Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000027866
Gene: ENSMUSG00000026577
AA Change: T360A
| 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 |
probably benign
Transcript: ENSMUST00000027867
|
| SMART Domains |
Protein: ENSMUSP00000027867
Gene: ENSMUSG00000026578
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
116 |
122 |
N/A |
INTRINSIC |
|
coiled coil region
|
334 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
485 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086032
AA Change: T353A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000083196
Gene: ENSMUSG00000026577
AA Change: T353A
| 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 benign
Transcript: ENSMUST00000120447
AA Change: T353A
PolyPhen 2
Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113479
Gene: ENSMUSG00000026577
AA Change: T353A
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.9%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700046A07Rik |
A |
G |
18: 62,886,414 (GRCm39) |
|
noncoding transcript |
Het |
| Ak3 |
T |
C |
19: 29,000,345 (GRCm39) |
K189E |
probably benign |
Het |
| Anks3 |
A |
T |
16: 4,773,811 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
C |
A |
3: 88,961,761 (GRCm39) |
H2378N |
possibly damaging |
Het |
| Baz1a |
A |
G |
12: 54,947,348 (GRCm39) |
|
probably benign |
Het |
| Bicra |
A |
G |
7: 15,705,929 (GRCm39) |
F1504S |
probably damaging |
Het |
| Btn1a1 |
C |
A |
13: 23,648,489 (GRCm39) |
V115F |
probably damaging |
Het |
| Cd38 |
T |
A |
5: 44,060,927 (GRCm39) |
|
probably null |
Het |
| Cep250 |
T |
C |
2: 155,806,031 (GRCm39) |
C109R |
probably damaging |
Het |
| Cnksr1 |
C |
T |
4: 133,960,377 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
T |
A |
9: 54,273,724 (GRCm39) |
N3048I |
probably benign |
Het |
| Impdh1 |
T |
A |
6: 29,206,971 (GRCm39) |
H116L |
probably damaging |
Het |
| Kank4 |
C |
A |
4: 98,659,681 (GRCm39) |
W799L |
probably damaging |
Het |
| Kcnk7 |
C |
T |
19: 5,756,103 (GRCm39) |
H110Y |
probably benign |
Het |
| Mak |
T |
C |
13: 41,223,640 (GRCm39) |
E25G |
probably damaging |
Het |
| Mrpl54 |
G |
A |
10: 81,102,759 (GRCm39) |
|
probably benign |
Het |
| Myh10 |
A |
C |
11: 68,702,627 (GRCm39) |
D1767A |
possibly damaging |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Ndufaf6 |
A |
T |
4: 11,051,169 (GRCm39) |
H310Q |
probably damaging |
Het |
| Osbpl6 |
G |
T |
2: 76,415,477 (GRCm39) |
G467V |
probably damaging |
Het |
| Osbpl6 |
A |
G |
2: 76,422,183 (GRCm39) |
E673G |
probably damaging |
Het |
| Picalm |
T |
A |
7: 89,840,356 (GRCm39) |
D458E |
possibly damaging |
Het |
| Ppp2ca |
G |
A |
11: 52,012,752 (GRCm39) |
R294H |
probably benign |
Het |
| Prdm14 |
T |
A |
1: 13,195,761 (GRCm39) |
N100I |
probably benign |
Het |
| Rbbp6 |
A |
G |
7: 122,591,471 (GRCm39) |
T510A |
probably benign |
Het |
| Sars1 |
C |
A |
3: 108,334,248 (GRCm39) |
E503D |
probably benign |
Het |
| Smtn |
T |
C |
11: 3,471,880 (GRCm39) |
D853G |
probably damaging |
Het |
| Tbx20 |
A |
G |
9: 24,636,908 (GRCm39) |
M393T |
probably benign |
Het |
| Thada |
T |
C |
17: 84,744,083 (GRCm39) |
T742A |
probably damaging |
Het |
| Tmem63a |
T |
C |
1: 180,788,625 (GRCm39) |
S321P |
possibly damaging |
Het |
| Trim24 |
T |
A |
6: 37,892,137 (GRCm39) |
C223* |
probably null |
Het |
| Usp48 |
T |
C |
4: 137,335,465 (GRCm39) |
F213L |
probably damaging |
Het |
| Vmn2r109 |
A |
T |
17: 20,761,670 (GRCm39) |
Y562* |
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 |
|
|
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 |
|
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'- CTGAGCATGGCTCCAACAGACTAC -3'
(R):5'- CTGCTTTGAGTCTCAGGAGAGGAAAC -3'
Sequencing Primer
(F):5'- GACTACACACTAAAGAGCAATGAG -3'
(R):5'- CAGAAGAATGGAGGTCTGATTCTTAC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation