Incidental Mutation 'R8285:Maz'
| ID |
638420 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
067653-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.510)
|
| Stock # |
R8285 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
126621306-126626177 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 126624644 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 292
(Y292C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032916
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032915]
[ENSMUST00000032916]
[ENSMUST00000159916]
[ENSMUST00000202045]
[ENSMUST00000202624]
[ENSMUST00000205461]
[ENSMUST00000205568]
[ENSMUST00000206254]
[ENSMUST00000206291]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000032916
AA Change: Y292C
PolyPhen 2
Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000032916
Gene: ENSMUSG00000030678
AA Change: Y292C
| 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 |
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 |
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: ENSMUST00000205461
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205568
AA Change: Y292C
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205754
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206254
AA Change: Y269C
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206291
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
A |
G |
10: 88,904,079 (GRCm39) |
I206T |
probably damaging |
Het |
| Atp5pf |
A |
G |
16: 84,625,390 (GRCm39) |
L71P |
probably damaging |
Het |
| Bcar3 |
A |
T |
3: 122,306,383 (GRCm39) |
I468F |
probably benign |
Het |
| Ddi1 |
T |
A |
9: 6,265,808 (GRCm39) |
Q187L |
probably benign |
Het |
| Dgkh |
T |
C |
14: 78,865,566 (GRCm39) |
N139D |
probably benign |
Het |
| Fan1 |
A |
T |
7: 64,016,348 (GRCm39) |
I592N |
probably damaging |
Het |
| Fchsd2 |
T |
C |
7: 100,883,128 (GRCm39) |
F252S |
possibly damaging |
Het |
| Gad2 |
T |
A |
2: 22,514,940 (GRCm39) |
N139K |
probably benign |
Het |
| Gm12695 |
G |
A |
4: 96,657,990 (GRCm39) |
R60W |
possibly damaging |
Het |
| Gucy1b2 |
A |
G |
14: 62,657,556 (GRCm39) |
V224A |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,239,974 (GRCm39) |
D514G |
probably benign |
Het |
| Igsf23 |
T |
C |
7: 19,675,881 (GRCm39) |
D113G |
possibly damaging |
Het |
| Inhbc |
T |
C |
10: 127,206,010 (GRCm39) |
T86A |
probably benign |
Het |
| Itga11 |
T |
C |
9: 62,659,540 (GRCm39) |
S431P |
probably damaging |
Het |
| Kif13b |
A |
G |
14: 65,019,825 (GRCm39) |
H1398R |
probably benign |
Het |
| Lce1f |
T |
C |
3: 92,626,238 (GRCm39) |
S140G |
unknown |
Het |
| Mapt |
T |
A |
11: 104,189,628 (GRCm39) |
D215E |
probably benign |
Het |
| Mfsd8 |
G |
A |
3: 40,789,628 (GRCm39) |
R140C |
probably damaging |
Het |
| Mpo |
A |
G |
11: 87,688,393 (GRCm39) |
M351V |
probably benign |
Het |
| Muc16 |
G |
A |
9: 18,554,273 (GRCm39) |
P4007S |
unknown |
Het |
| Or4k47 |
A |
T |
2: 111,452,390 (GRCm39) |
S10T |
probably benign |
Het |
| Or5h26 |
G |
A |
16: 58,988,176 (GRCm39) |
T110I |
probably benign |
Het |
| Or5t9 |
T |
C |
2: 86,659,443 (GRCm39) |
F116L |
probably benign |
Het |
| Ppp3ca |
A |
G |
3: 136,587,205 (GRCm39) |
D229G |
probably damaging |
Het |
| Pramel25 |
T |
A |
4: 143,520,636 (GRCm39) |
D293E |
probably benign |
Het |
| Rab39 |
A |
T |
9: 53,617,231 (GRCm39) |
I62N |
probably damaging |
Het |
| Rgs6 |
A |
G |
12: 83,162,949 (GRCm39) |
E385G |
probably benign |
Het |
| Scaf8 |
T |
C |
17: 3,227,404 (GRCm39) |
S340P |
unknown |
Het |
| Scpep1 |
A |
G |
11: 88,843,293 (GRCm39) |
L55P |
probably damaging |
Het |
| Sorbs2 |
T |
C |
8: 46,249,104 (GRCm39) |
L785P |
probably damaging |
Het |
| Supt16 |
A |
T |
14: 52,418,540 (GRCm39) |
V239E |
possibly damaging |
Het |
| Usf3 |
T |
C |
16: 44,041,207 (GRCm39) |
S1896P |
probably damaging |
Het |
| Xrcc1 |
G |
A |
7: 24,271,703 (GRCm39) |
R562H |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,466,916 (GRCm39) |
T2383I |
probably benign |
Het |
|
| Other mutations in Maz |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01947:Maz
|
APN |
7 |
126,623,614 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGACAGGCCACCTTGTTG -3'
(R):5'- ATGAAGATGCCCACCATGGTG -3'
Sequencing Primer
(F):5'- AGGCCACCTTGTTGCCCTC -3'
(R):5'- CCCCTGAGCCTCTTGAGTG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation