Incidental Mutation 'R1070:Blzf1'
| ID |
86149 |
| 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 |
039156-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.255)
|
| Stock # |
R1070 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
164117368-164135056 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 164131499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027866]
[ENSMUST00000086032]
[ENSMUST00000120447]
[ENSMUST00000191947]
[ENSMUST00000193808]
[ENSMUST00000193683]
|
| AlphaFold |
Q8R2X8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027866
|
| SMART Domains |
Protein: ENSMUSP00000027866
Gene: ENSMUSG00000026577
| 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: ENSMUST00000086032
|
| SMART Domains |
Protein: ENSMUSP00000083196
Gene: ENSMUSG00000026577
| 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
|
| SMART Domains |
Protein: ENSMUSP00000113479
Gene: ENSMUSG00000026577
| 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: ENSMUST00000191947
|
| SMART Domains |
Protein: ENSMUSP00000141431
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192225
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195474
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193237
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193683
|
| SMART Domains |
Protein: ENSMUSP00000141963
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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.7%
|
| Validation Efficiency |
95% (41/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,520,263 (GRCm39) |
D1367G |
probably damaging |
Het |
| Actr3b |
A |
G |
5: 26,053,491 (GRCm39) |
|
probably benign |
Het |
| Agtr1b |
A |
T |
3: 20,369,912 (GRCm39) |
N231K |
probably benign |
Het |
| Bach1 |
T |
C |
16: 87,517,009 (GRCm39) |
S517P |
probably benign |
Het |
| Bptf |
G |
T |
11: 106,945,881 (GRCm39) |
Q2453K |
possibly damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Heatr4 |
T |
C |
12: 84,024,841 (GRCm39) |
T327A |
possibly damaging |
Het |
| Hes1 |
T |
C |
16: 29,886,101 (GRCm39) |
I235T |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,565,341 (GRCm39) |
D2262V |
probably damaging |
Het |
| Ifi208 |
C |
T |
1: 173,510,610 (GRCm39) |
A255V |
probably damaging |
Het |
| Inhbe |
T |
C |
10: 127,187,382 (GRCm39) |
I11M |
probably benign |
Het |
| Ipo9 |
T |
C |
1: 135,334,281 (GRCm39) |
E315G |
possibly damaging |
Het |
| Itih1 |
G |
T |
14: 30,664,413 (GRCm39) |
|
probably benign |
Het |
| Kcnk2 |
A |
G |
1: 188,988,960 (GRCm39) |
|
probably benign |
Het |
| Kdm4c |
T |
A |
4: 74,291,865 (GRCm39) |
Y827* |
probably null |
Het |
| Kif5a |
T |
C |
10: 127,081,275 (GRCm39) |
T220A |
probably benign |
Het |
| Krt78 |
A |
G |
15: 101,854,728 (GRCm39) |
Y1028H |
possibly damaging |
Het |
| Ldc1 |
T |
C |
4: 130,112,949 (GRCm39) |
E149G |
probably benign |
Het |
| Mylk4 |
T |
C |
13: 32,908,801 (GRCm39) |
D333G |
probably benign |
Het |
| Net1 |
A |
T |
13: 3,962,930 (GRCm39) |
S45T |
probably benign |
Het |
| Npat |
T |
A |
9: 53,483,892 (GRCm39) |
F1403I |
probably damaging |
Het |
| Or5h25 |
A |
G |
16: 58,930,182 (GRCm39) |
S264P |
probably benign |
Het |
| Or5p57 |
T |
C |
7: 107,665,858 (GRCm39) |
D49G |
probably benign |
Het |
| Or7a35 |
C |
T |
10: 78,853,684 (GRCm39) |
P176L |
probably damaging |
Het |
| Pcif1 |
T |
C |
2: 164,731,058 (GRCm39) |
Y404H |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,390,052 (GRCm39) |
|
probably null |
Het |
| Rab3a |
A |
G |
8: 71,209,840 (GRCm39) |
N40S |
probably damaging |
Het |
| Raf1 |
T |
C |
6: 115,614,660 (GRCm39) |
N74D |
probably benign |
Het |
| Rap1gap2 |
A |
G |
11: 74,327,853 (GRCm39) |
V139A |
possibly damaging |
Het |
| Rdh12 |
T |
C |
12: 79,260,522 (GRCm39) |
L206P |
probably damaging |
Het |
| Rimoc1 |
C |
A |
15: 4,015,848 (GRCm39) |
V239F |
probably benign |
Het |
| Sdhb |
T |
C |
4: 140,698,547 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Strip1 |
T |
C |
3: 107,534,724 (GRCm39) |
E102G |
possibly damaging |
Het |
| Sult2a8 |
T |
A |
7: 14,147,698 (GRCm39) |
I198F |
probably damaging |
Het |
| Tars3 |
T |
C |
7: 65,305,444 (GRCm39) |
S223P |
probably damaging |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Vcam1 |
C |
T |
3: 115,904,552 (GRCm39) |
V732M |
possibly damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,652,681 (GRCm39) |
Y458H |
probably damaging |
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 |
|
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'- AAAGTAACTTCATTCCAGCCCACTGAG -3'
(R):5'- AGTCCATCAGTCCAAGGGAAAGCC -3'
Sequencing Primer
(F):5'- CCAGTTAGATACTTGGTTCAAGTC -3'
(R):5'- TGATTAGCGCCTGATCCCAG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation