Incidental Mutation 'IGL00418:Mzf1'
| ID |
332373 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mzf1
|
| Ensembl Gene |
ENSMUSG00000030380 |
| Gene Name |
myeloid zinc finger 1 |
| Synonyms |
Zfp98, Zfp121, Znf42, Mzf2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.181)
|
| Stock # |
IGL00418
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
12776230-12788691 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 12778543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 287
(A287V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069289]
[ENSMUST00000182087]
[ENSMUST00000182490]
[ENSMUST00000182515]
|
| AlphaFold |
S4R1L6 |
| Predicted Effect |
silent
Transcript: ENSMUST00000069289
|
| SMART Domains |
Protein: ENSMUSP00000069122
Gene: ENSMUSG00000030380
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
34 |
N/A |
INTRINSIC |
|
SCAN
|
41 |
153 |
1.18e-70 |
SMART |
|
ZnF_C2H2
|
357 |
379 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
385 |
407 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
413 |
435 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
441 |
463 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
486 |
508 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
514 |
536 |
7.15e-2 |
SMART |
|
ZnF_C2H2
|
542 |
564 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
570 |
592 |
2.79e-4 |
SMART |
|
ZnF_C2H2
|
598 |
620 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
626 |
648 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
654 |
676 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
682 |
704 |
2.84e-5 |
SMART |
|
ZnF_C2H2
|
710 |
732 |
2.4e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182087
|
| SMART Domains |
Protein: ENSMUSP00000138163
Gene: ENSMUSG00000030380
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
34 |
N/A |
INTRINSIC |
|
SCAN
|
41 |
152 |
9.06e-58 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182293
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182490
AA Change: A366V
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000138271
Gene: ENSMUSG00000030380
AA Change: A366V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
103 |
113 |
N/A |
INTRINSIC |
|
SCAN
|
120 |
232 |
1.18e-70 |
SMART |
|
ZnF_C2H2
|
436 |
458 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
464 |
486 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
492 |
514 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
520 |
542 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
565 |
587 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
593 |
615 |
7.15e-2 |
SMART |
|
ZnF_C2H2
|
621 |
643 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
649 |
671 |
2.79e-4 |
SMART |
|
ZnF_C2H2
|
677 |
699 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
705 |
727 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
733 |
755 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
761 |
783 |
2.84e-5 |
SMART |
|
ZnF_C2H2
|
789 |
811 |
2.4e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182515
AA Change: A287V
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000138387
Gene: ENSMUSG00000030380
AA Change: A287V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
34 |
N/A |
INTRINSIC |
|
SCAN
|
41 |
153 |
1.18e-70 |
SMART |
|
ZnF_C2H2
|
357 |
379 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
385 |
407 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
413 |
435 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
441 |
463 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
486 |
508 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
514 |
536 |
7.15e-2 |
SMART |
|
ZnF_C2H2
|
542 |
564 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
570 |
592 |
2.79e-4 |
SMART |
|
ZnF_C2H2
|
598 |
620 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
626 |
648 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
654 |
676 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
682 |
704 |
2.84e-5 |
SMART |
|
ZnF_C2H2
|
710 |
732 |
2.4e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183176
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210727
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutants are prone to late-onset (>2 yr) neoplasias characterized by infiltration, enlargement and disruption of the liver by monomorphic cells of myeloid origin; hemopoietic progenitors show increased ability to sustain long-term hemopoiesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
A |
G |
12: 55,095,748 (GRCm39) |
I238T |
probably damaging |
Het |
| Akap4 |
T |
C |
X: 6,942,729 (GRCm39) |
V344A |
possibly damaging |
Het |
| Apex2 |
T |
C |
X: 149,355,048 (GRCm39) |
K430E |
probably benign |
Het |
| Aqp9 |
C |
T |
9: 71,040,013 (GRCm39) |
A90T |
probably damaging |
Het |
| Asb15 |
T |
A |
6: 24,558,642 (GRCm39) |
|
probably benign |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Bspry |
G |
T |
4: 62,414,342 (GRCm39) |
D312Y |
probably benign |
Het |
| Cdh16 |
G |
A |
8: 105,350,045 (GRCm39) |
R5W |
probably benign |
Het |
| Ciz1 |
C |
T |
2: 32,262,400 (GRCm39) |
R461C |
probably damaging |
Het |
| Cldn14 |
T |
A |
16: 93,716,189 (GRCm39) |
D219V |
probably benign |
Het |
| Clpb |
A |
T |
7: 101,436,952 (GRCm39) |
T706S |
probably benign |
Het |
| Cyp2d11 |
A |
T |
15: 82,276,669 (GRCm39) |
M90K |
probably benign |
Het |
| Cyp2j8 |
T |
A |
4: 96,332,853 (GRCm39) |
I498F |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,385,892 (GRCm39) |
|
probably benign |
Het |
| Dpyd |
T |
A |
3: 118,737,891 (GRCm39) |
F477L |
probably damaging |
Het |
| Dscaml1 |
C |
A |
9: 45,581,498 (GRCm39) |
S439* |
probably null |
Het |
| Faxc |
A |
G |
4: 21,958,490 (GRCm39) |
K216E |
possibly damaging |
Het |
| Fmo1 |
C |
T |
1: 162,663,815 (GRCm39) |
R238Q |
probably damaging |
Het |
| Gm14399 |
G |
A |
2: 174,973,315 (GRCm39) |
R147* |
probably null |
Het |
| H2-Ab1 |
G |
A |
17: 34,486,549 (GRCm39) |
V203M |
probably damaging |
Het |
| Heatr5b |
T |
C |
17: 79,060,570 (GRCm39) |
E2035G |
probably damaging |
Het |
| Hip1 |
A |
G |
5: 135,455,200 (GRCm39) |
I786T |
probably damaging |
Het |
| Homer1 |
T |
C |
13: 93,524,196 (GRCm39) |
|
probably benign |
Het |
| Igkv9-120 |
A |
G |
6: 68,026,971 (GRCm39) |
D2G |
possibly damaging |
Het |
| Irgm1 |
A |
T |
11: 48,756,832 (GRCm39) |
Y326* |
probably null |
Het |
| Kctd19 |
A |
T |
8: 106,115,095 (GRCm39) |
|
probably null |
Het |
| Large1 |
T |
C |
8: 73,550,469 (GRCm39) |
|
probably null |
Het |
| Nes |
A |
T |
3: 87,883,561 (GRCm39) |
K607* |
probably null |
Het |
| Pars2 |
T |
A |
4: 106,511,247 (GRCm39) |
V307E |
probably damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,488,785 (GRCm39) |
I1012F |
possibly damaging |
Het |
| Pole |
T |
C |
5: 110,451,431 (GRCm39) |
|
probably benign |
Het |
| Rbm14 |
T |
C |
19: 4,852,576 (GRCm39) |
|
probably benign |
Het |
| Scn2a |
A |
T |
2: 65,594,866 (GRCm39) |
Q1905L |
probably benign |
Het |
| Slc26a2 |
A |
G |
18: 61,331,812 (GRCm39) |
F540L |
probably benign |
Het |
| Slco2a1 |
T |
C |
9: 102,956,640 (GRCm39) |
|
probably benign |
Het |
| Tas2r106 |
T |
C |
6: 131,654,922 (GRCm39) |
|
probably null |
Het |
| Tmem175 |
T |
A |
5: 108,793,732 (GRCm39) |
D287E |
probably benign |
Het |
| Trappc12 |
T |
C |
12: 28,787,835 (GRCm39) |
K416R |
probably damaging |
Het |
| Trim2 |
A |
G |
3: 84,115,596 (GRCm39) |
L86P |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,783,544 (GRCm39) |
N240K |
probably damaging |
Het |
| Wdr90 |
A |
C |
17: 26,068,338 (GRCm39) |
I1330S |
probably damaging |
Het |
| Wfdc6a |
A |
G |
2: 164,426,914 (GRCm39) |
|
probably null |
Het |
| Zc3h12c |
C |
T |
9: 52,027,965 (GRCm39) |
V466M |
probably damaging |
Het |
| Zswim8 |
A |
G |
14: 20,768,543 (GRCm39) |
T1025A |
probably damaging |
Het |
|
| Other mutations in Mzf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01728:Mzf1
|
APN |
7 |
12,785,654 (GRCm39) |
splice site |
probably benign |
|
|
IGL02194:Mzf1
|
APN |
7 |
12,777,647 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02256:Mzf1
|
APN |
7 |
12,786,664 (GRCm39) |
splice site |
probably benign |
|
|
IGL02584:Mzf1
|
APN |
7 |
12,786,744 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02678:Mzf1
|
APN |
7 |
12,786,836 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0903:Mzf1
|
UTSW |
7 |
12,786,698 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0904:Mzf1
|
UTSW |
7 |
12,786,698 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0905:Mzf1
|
UTSW |
7 |
12,786,698 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1128:Mzf1
|
UTSW |
7 |
12,786,698 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1131:Mzf1
|
UTSW |
7 |
12,786,698 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1280:Mzf1
|
UTSW |
7 |
12,787,010 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1400:Mzf1
|
UTSW |
7 |
12,786,698 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1640:Mzf1
|
UTSW |
7 |
12,777,197 (GRCm39) |
makesense |
probably null |
|
|
R1687:Mzf1
|
UTSW |
7 |
12,786,698 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4014:Mzf1
|
UTSW |
7 |
12,777,883 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4721:Mzf1
|
UTSW |
7 |
12,777,448 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4721:Mzf1
|
UTSW |
7 |
12,777,223 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5511:Mzf1
|
UTSW |
7 |
12,785,526 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5611:Mzf1
|
UTSW |
7 |
12,778,554 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5728:Mzf1
|
UTSW |
7 |
12,777,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5868:Mzf1
|
UTSW |
7 |
12,787,116 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6283:Mzf1
|
UTSW |
7 |
12,787,296 (GRCm39) |
intron |
probably benign |
|
|
R7059:Mzf1
|
UTSW |
7 |
12,786,985 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7066:Mzf1
|
UTSW |
7 |
12,777,490 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7763:Mzf1
|
UTSW |
7 |
12,778,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8157:Mzf1
|
UTSW |
7 |
12,778,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8870:Mzf1
|
UTSW |
7 |
12,786,836 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9063:Mzf1
|
UTSW |
7 |
12,787,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9113:Mzf1
|
UTSW |
7 |
12,778,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9252:Mzf1
|
UTSW |
7 |
12,777,647 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9289:Mzf1
|
UTSW |
7 |
12,785,534 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9792:Mzf1
|
UTSW |
7 |
12,786,131 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2015-08-05 |
Incidental Mutation