Incidental Mutation 'IGL01947:Maz'
| ID |
181280 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Maz
|
| Ensembl Gene |
ENSMUSG00000030678 |
| Gene Name |
MYC-associated zinc finger protein (purine-binding transcription factor) |
| Synonyms |
PUR1, Pur-1, SAF-1, SAF-2 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.510)
|
| Stock # |
IGL01947
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
126621306-126626177 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 126623614 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032915]
[ENSMUST00000032916]
[ENSMUST00000159916]
[ENSMUST00000161931]
[ENSMUST00000205568]
[ENSMUST00000205461]
[ENSMUST00000206254]
[ENSMUST00000206291]
[ENSMUST00000202045]
[ENSMUST00000202624]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032915
|
| SMART Domains |
Protein: ENSMUSP00000032915
Gene: ENSMUSG00000030677
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
36 |
371 |
1.12e-140 |
SMART |
|
low complexity region
|
399 |
428 |
N/A |
INTRINSIC |
|
coiled coil region
|
460 |
496 |
N/A |
INTRINSIC |
|
HhH1
|
597 |
616 |
2.16e0 |
SMART |
|
HhH1
|
627 |
646 |
8.65e0 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000032916
|
| SMART Domains |
Protein: ENSMUSP00000032916
Gene: ENSMUSG00000030678
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
130 |
179 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
190 |
212 |
4.11e-2 |
SMART |
|
low complexity region
|
231 |
272 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
279 |
301 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
307 |
329 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
337 |
360 |
1.22e-4 |
SMART |
|
ZnF_C2H2
|
366 |
388 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
392 |
413 |
6.57e0 |
SMART |
|
low complexity region
|
435 |
451 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
476 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000032918
|
| SMART Domains |
Protein: ENSMUSP00000032918
Gene: ENSMUSG00000030680
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
64 |
77 |
N/A |
INTRINSIC |
|
Pfam:PAXIP1_C
|
85 |
217 |
7.2e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159916
|
| SMART Domains |
Protein: ENSMUSP00000124520
Gene: ENSMUSG00000045114
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
69 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
146 |
169 |
N/A |
INTRINSIC |
|
Pfam:CD225
|
263 |
337 |
3.8e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160767
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161728
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161931
|
| SMART Domains |
Protein: ENSMUSP00000143833
Gene: ENSMUSG00000045114
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205568
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205461
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206953
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000206254
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206924
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205754
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206655
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202936
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206291
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201963
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201606
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202045
|
| SMART Domains |
Protein: ENSMUSP00000144042
Gene: ENSMUSG00000045114
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD225
|
1 |
52 |
3.5e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202624
|
| SMART Domains |
Protein: ENSMUSP00000144099
Gene: ENSMUSG00000107068
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
64 |
77 |
N/A |
INTRINSIC |
|
Pfam:PAXIP1_C
|
85 |
176 |
5.9e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201686
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
C |
3: 151,216,428 (GRCm39) |
|
probably null |
Het |
| Aloxe3 |
T |
A |
11: 69,033,847 (GRCm39) |
|
probably benign |
Het |
| Atic |
C |
T |
1: 71,609,996 (GRCm39) |
|
probably benign |
Het |
| Avpr1a |
T |
C |
10: 122,288,087 (GRCm39) |
V365A |
probably benign |
Het |
| Brd7 |
A |
G |
8: 89,059,503 (GRCm39) |
|
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,845,579 (GRCm39) |
N332D |
probably damaging |
Het |
| Cdh20 |
C |
T |
1: 104,921,649 (GRCm39) |
P649S |
possibly damaging |
Het |
| Cgnl1 |
T |
C |
9: 71,632,326 (GRCm39) |
T342A |
probably damaging |
Het |
| Chst10 |
A |
G |
1: 38,904,646 (GRCm39) |
L349P |
probably damaging |
Het |
| Cox6b2 |
T |
A |
7: 4,754,929 (GRCm39) |
K77* |
probably null |
Het |
| Crnkl1 |
G |
A |
2: 145,763,744 (GRCm39) |
A498V |
probably benign |
Het |
| Cux1 |
A |
G |
5: 136,303,979 (GRCm39) |
L1394P |
probably benign |
Het |
| Dapp1 |
T |
C |
3: 137,641,404 (GRCm39) |
Y197C |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,959,280 (GRCm39) |
I164T |
probably benign |
Het |
| Disp3 |
T |
A |
4: 148,344,976 (GRCm39) |
I472F |
probably damaging |
Het |
| Gm10392 |
A |
T |
11: 77,408,306 (GRCm39) |
D104E |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gpd1 |
A |
G |
15: 99,618,112 (GRCm39) |
I143V |
possibly damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,608,643 (GRCm39) |
N1513I |
possibly damaging |
Het |
| Jakmip2 |
T |
C |
18: 43,680,159 (GRCm39) |
I733V |
probably benign |
Het |
| Klhl12 |
T |
A |
1: 134,391,689 (GRCm39) |
L107H |
probably damaging |
Het |
| Lcn8 |
A |
G |
2: 25,545,157 (GRCm39) |
D109G |
probably damaging |
Het |
| Mttp |
T |
A |
3: 137,812,890 (GRCm39) |
D595V |
probably damaging |
Het |
| Mymk |
A |
C |
2: 26,956,406 (GRCm39) |
L58R |
possibly damaging |
Het |
| Nckap1 |
A |
C |
2: 80,339,097 (GRCm39) |
I977S |
probably damaging |
Het |
| Nckap1l |
A |
T |
15: 103,399,442 (GRCm39) |
I1021F |
probably benign |
Het |
| Or12d2 |
A |
T |
17: 37,624,556 (GRCm39) |
C240S |
probably damaging |
Het |
| Or4f14b |
A |
T |
2: 111,775,339 (GRCm39) |
M154K |
probably benign |
Het |
| Or4f6 |
A |
T |
2: 111,839,361 (GRCm39) |
S57T |
possibly damaging |
Het |
| Or6c38 |
G |
A |
10: 128,929,747 (GRCm39) |
T32I |
possibly damaging |
Het |
| Pde5a |
T |
A |
3: 122,629,259 (GRCm39) |
F644L |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,592,440 (GRCm39) |
I68T |
probably damaging |
Het |
| Pik3r4 |
T |
A |
9: 105,563,349 (GRCm39) |
V1242D |
possibly damaging |
Het |
| Ppp6r2 |
G |
T |
15: 89,162,929 (GRCm39) |
W517L |
probably damaging |
Het |
| Scrib |
A |
T |
15: 75,933,616 (GRCm39) |
I703K |
probably benign |
Het |
| Serpina1b |
T |
C |
12: 103,695,576 (GRCm39) |
S322G |
probably benign |
Het |
| Siglecg |
C |
A |
7: 43,058,187 (GRCm39) |
Q25K |
probably benign |
Het |
| Slc12a3 |
G |
A |
8: 95,092,447 (GRCm39) |
|
probably null |
Het |
| Slc6a13 |
G |
T |
6: 121,302,116 (GRCm39) |
|
probably null |
Het |
| Stard13 |
A |
T |
5: 150,986,309 (GRCm39) |
D282E |
probably damaging |
Het |
| Tpte |
A |
T |
8: 22,845,489 (GRCm39) |
Y513F |
possibly damaging |
Het |
| Ubox5 |
T |
A |
2: 130,442,579 (GRCm39) |
K36I |
possibly damaging |
Het |
|
| Other mutations in Maz |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0049:Maz
|
UTSW |
7 |
126,623,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Maz
|
UTSW |
7 |
126,623,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1381:Maz
|
UTSW |
7 |
126,622,324 (GRCm39) |
nonsense |
probably null |
|
|
R2114:Maz
|
UTSW |
7 |
126,624,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4628:Maz
|
UTSW |
7 |
126,624,519 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4629:Maz
|
UTSW |
7 |
126,624,519 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4895:Maz
|
UTSW |
7 |
126,624,472 (GRCm39) |
splice site |
probably null |
|
|
R5479:Maz
|
UTSW |
7 |
126,624,860 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5668:Maz
|
UTSW |
7 |
126,624,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7008:Maz
|
UTSW |
7 |
126,623,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7324:Maz
|
UTSW |
7 |
126,623,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7325:Maz
|
UTSW |
7 |
126,624,725 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7432:Maz
|
UTSW |
7 |
126,622,220 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7456:Maz
|
UTSW |
7 |
126,625,489 (GRCm39) |
nonsense |
probably null |
|
|
R8285:Maz
|
UTSW |
7 |
126,624,644 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9298:Maz
|
UTSW |
7 |
126,625,075 (GRCm39) |
small deletion |
probably benign |
|
|
R9383:Maz
|
UTSW |
7 |
126,624,083 (GRCm39) |
nonsense |
probably null |
|
|
R9492:Maz
|
UTSW |
7 |
126,622,292 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9549:Maz
|
UTSW |
7 |
126,625,578 (GRCm39) |
missense |
unknown |
|
|
R9593:Maz
|
UTSW |
7 |
126,624,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF003:Maz
|
UTSW |
7 |
126,624,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0035:Maz
|
UTSW |
7 |
126,625,055 (GRCm39) |
unclassified |
probably benign |
|
|
Z1088:Maz
|
UTSW |
7 |
126,623,646 (GRCm39) |
frame shift |
probably null |
|
|
Z1177:Maz
|
UTSW |
7 |
126,625,068 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation