Incidental Mutation 'R5047:Blzf1'
| ID |
453349 |
| 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 |
042637-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.321)
|
| Stock # |
R5047 (G1)
|
| Quality Score |
52 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
164117368-164135056 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 164134037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 4
(M4T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113479
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027866]
[ENSMUST00000086032]
[ENSMUST00000120447]
[ENSMUST00000191947]
[ENSMUST00000193808]
[ENSMUST00000193683]
|
| AlphaFold |
Q8R2X8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027866
AA Change: M4T
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000027866
Gene: ENSMUSG00000026577
AA Change: M4T
| 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
AA Change: M4T
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000083196
Gene: ENSMUSG00000026577
AA Change: M4T
| 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 |
possibly damaging
Transcript: ENSMUST00000120447
AA Change: M4T
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113479
Gene: ENSMUSG00000026577
AA Change: M4T
| 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 |
0.7952 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.5%
|
| Validation Efficiency |
96% (49/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
A |
T |
14: 44,406,698 (GRCm39) |
M117K |
possibly damaging |
Het |
| Adamts13 |
G |
A |
2: 26,886,922 (GRCm39) |
A1020T |
probably damaging |
Het |
| Armh4 |
G |
T |
14: 50,007,895 (GRCm39) |
A526D |
probably damaging |
Het |
| Atg3 |
C |
A |
16: 44,998,595 (GRCm39) |
D132E |
probably benign |
Het |
| Cdon |
G |
A |
9: 35,389,935 (GRCm39) |
R863Q |
probably damaging |
Het |
| Cyp2d40 |
C |
T |
15: 82,644,460 (GRCm39) |
R255H |
unknown |
Het |
| Evi5 |
T |
C |
5: 107,969,740 (GRCm39) |
K57R |
probably damaging |
Het |
| Fam186b |
T |
C |
15: 99,178,567 (GRCm39) |
E253G |
probably damaging |
Het |
| Fcgr1 |
A |
T |
3: 96,193,200 (GRCm39) |
F266I |
probably benign |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Gm10142 |
G |
T |
10: 77,551,996 (GRCm39) |
C119F |
probably damaging |
Het |
| Gpr63 |
A |
G |
4: 25,008,202 (GRCm39) |
S309G |
probably benign |
Het |
| Herc3 |
C |
T |
6: 58,832,745 (GRCm39) |
Q137* |
probably null |
Het |
| Jmy |
T |
A |
13: 93,578,080 (GRCm39) |
H696L |
possibly damaging |
Het |
| Kif13a |
T |
C |
13: 46,941,561 (GRCm39) |
H972R |
probably benign |
Het |
| Lama1 |
C |
T |
17: 68,050,276 (GRCm39) |
Q296* |
probably null |
Het |
| Lmf1 |
C |
T |
17: 25,850,812 (GRCm39) |
|
probably benign |
Het |
| Lpp |
T |
C |
16: 24,790,596 (GRCm39) |
C352R |
probably damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,599,881 (GRCm39) |
|
probably benign |
Het |
| Maml3 |
G |
T |
3: 51,598,262 (GRCm39) |
D807E |
possibly damaging |
Het |
| Mdc1 |
T |
A |
17: 36,158,736 (GRCm39) |
V372D |
probably benign |
Het |
| Mst1 |
C |
A |
9: 107,961,508 (GRCm39) |
H579Q |
probably benign |
Het |
| Or11g24 |
T |
C |
14: 50,662,696 (GRCm39) |
F240S |
probably damaging |
Het |
| Or1r1 |
T |
C |
11: 73,875,204 (GRCm39) |
T77A |
probably damaging |
Het |
| Or4a39 |
A |
G |
2: 89,237,057 (GRCm39) |
V122A |
probably damaging |
Het |
| Or8d1 |
G |
A |
9: 38,766,585 (GRCm39) |
V76I |
probably benign |
Het |
| Pcdhb22 |
G |
T |
18: 37,652,179 (GRCm39) |
G216C |
probably damaging |
Het |
| Phlpp2 |
A |
T |
8: 110,640,251 (GRCm39) |
H472L |
probably benign |
Het |
| Plscr3 |
A |
G |
11: 69,740,917 (GRCm39) |
|
probably null |
Het |
| Rab7 |
A |
T |
6: 87,982,205 (GRCm39) |
|
probably null |
Het |
| Rad50 |
A |
G |
11: 53,565,523 (GRCm39) |
|
probably null |
Het |
| Scgb1b20 |
A |
G |
7: 33,072,737 (GRCm39) |
|
probably null |
Het |
| Scn9a |
A |
C |
2: 66,392,824 (GRCm39) |
L256R |
probably damaging |
Het |
| Spag1 |
G |
T |
15: 36,195,588 (GRCm39) |
Q260H |
probably damaging |
Het |
| Tatdn3 |
T |
A |
1: 190,778,475 (GRCm39) |
I239F |
probably damaging |
Het |
| Tcof1 |
A |
G |
18: 60,964,986 (GRCm39) |
S578P |
possibly damaging |
Het |
| Top3b |
A |
G |
16: 16,709,282 (GRCm39) |
T657A |
probably benign |
Het |
| Tstd3 |
A |
G |
4: 21,759,621 (GRCm39) |
|
probably null |
Het |
| Ttc4 |
A |
T |
4: 106,525,435 (GRCm39) |
L233H |
probably damaging |
Het |
| Vmn2r130 |
T |
A |
17: 23,282,794 (GRCm39) |
M158K |
probably benign |
Het |
| Yeats2 |
A |
T |
16: 20,027,215 (GRCm39) |
Q822L |
probably damaging |
Het |
| Zfp976 |
A |
T |
7: 42,262,843 (GRCm39) |
C331* |
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 |
|
|
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'- GAACAGTTGTATTACCTGCCTTACTAG -3'
(R):5'- CATTACAGCCCGTCAAAAGG -3'
Sequencing Primer
(F):5'- CTCTCTGAGTTCAAGGCCAATGAG -3'
(R):5'- TTACAGCCCGTCAAAAGGAAATAATG -3'
|
| Posted On |
2017-02-01 |
Incidental Mutation