Incidental Mutation 'IGL01135:Blzf1'
| ID |
50330 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Blzf1
|
| Ensembl Gene |
ENSMUSG00000026577 |
| Gene Name |
basic leucine zipper nuclear factor 1 |
| Synonyms |
1700030G05Rik, Jem-1, Blzf1l, Golgin-45 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.321)
|
| Stock # |
IGL01135
|
| Quality Score |
|
|
Status
|
|
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| 5730507C01Rik |
G |
A |
12: 18,583,375 (GRCm39) |
R145H |
possibly damaging |
Het |
| Acox3 |
T |
A |
5: 35,746,096 (GRCm39) |
V93E |
probably benign |
Het |
| Ankar |
T |
C |
1: 72,704,378 (GRCm39) |
N848S |
probably benign |
Het |
| Cc2d1a |
G |
T |
8: 84,870,033 (GRCm39) |
H161N |
probably benign |
Het |
| Ceacam23 |
A |
T |
7: 17,636,396 (GRCm39) |
|
noncoding transcript |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Ckmt1 |
A |
C |
2: 121,191,631 (GRCm39) |
D267A |
probably damaging |
Het |
| Dtl |
G |
T |
1: 191,280,442 (GRCm39) |
T364K |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,477,877 (GRCm39) |
F2308I |
probably damaging |
Het |
| Fbxo41 |
A |
T |
6: 85,454,890 (GRCm39) |
S673T |
probably benign |
Het |
| Flnb |
G |
A |
14: 7,909,736 (GRCm38) |
V1397I |
probably benign |
Het |
| Gdi2 |
A |
G |
13: 3,598,855 (GRCm39) |
|
probably benign |
Het |
| Grik3 |
C |
T |
4: 125,526,208 (GRCm39) |
T147I |
probably benign |
Het |
| Htr1a |
T |
C |
13: 105,581,792 (GRCm39) |
V344A |
possibly damaging |
Het |
| Isg20l2 |
A |
T |
3: 87,839,068 (GRCm39) |
D93V |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,282,293 (GRCm39) |
|
probably null |
Het |
| Mfsd4b3-ps |
A |
G |
10: 39,824,068 (GRCm39) |
M64T |
probably benign |
Het |
| Nox3 |
T |
A |
17: 3,746,527 (GRCm39) |
|
probably benign |
Het |
| Or2ag12 |
C |
T |
7: 106,277,400 (GRCm39) |
A98T |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,290,794 (GRCm39) |
N1204K |
probably damaging |
Het |
| Pou4f3 |
C |
T |
18: 42,529,031 (GRCm39) |
Q325* |
probably null |
Het |
| Rap1a |
T |
A |
3: 105,639,351 (GRCm39) |
T103S |
probably benign |
Het |
| Rfc4 |
G |
A |
16: 22,934,526 (GRCm39) |
R165C |
probably damaging |
Het |
| Smtnl1 |
A |
G |
2: 84,649,231 (GRCm39) |
S8P |
probably benign |
Het |
| Syt17 |
C |
T |
7: 117,981,270 (GRCm39) |
G351S |
possibly damaging |
Het |
| Tcf20 |
T |
A |
15: 82,738,101 (GRCm39) |
M1117L |
probably benign |
Het |
| Tent5a |
A |
G |
9: 85,208,652 (GRCm39) |
V57A |
probably damaging |
Het |
| Tgfbr3 |
A |
T |
5: 107,362,894 (GRCm39) |
H39Q |
probably damaging |
Het |
| Trdmt1 |
T |
C |
2: 13,526,071 (GRCm39) |
|
probably null |
Het |
| Twf2 |
A |
G |
9: 106,090,027 (GRCm39) |
I127V |
probably benign |
Het |
| Unc13c |
A |
G |
9: 73,392,175 (GRCm39) |
V2059A |
probably damaging |
Het |
|
| Other mutations in Blzf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation