Incidental Mutation 'R4014:Mzf1'
ID |
356349 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mzf1
|
Ensembl Gene |
ENSMUSG00000030380 |
Gene Name |
myeloid zinc finger 1 |
Synonyms |
Zfp98, Zfp121, Znf42, Mzf2 |
MMRRC Submission |
040951-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.204)
|
Stock # |
R4014 (G1)
|
Quality Score |
66 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
12776230-12788691 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 12777883 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 586
(V586A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138271
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069289]
[ENSMUST00000182087]
[ENSMUST00000182490]
[ENSMUST00000182515]
|
AlphaFold |
S4R1L6 |
Predicted Effect |
probably benign
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 |
possibly damaging
Transcript: ENSMUST00000182490
AA Change: V586A
PolyPhen 2
Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000138271 Gene: ENSMUSG00000030380 AA Change: V586A
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 |
probably benign
Transcript: ENSMUST00000182515
AA Change: V507A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000138387 Gene: ENSMUSG00000030380 AA Change: V507A
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
|
Meta Mutation Damage Score |
0.1158 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
Validation Efficiency |
100% (49/49) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
A |
T |
19: 43,811,559 (GRCm39) |
Q1008L |
probably benign |
Het |
Adgrg7 |
A |
G |
16: 56,562,651 (GRCm39) |
F562S |
probably damaging |
Het |
Alms1 |
T |
A |
6: 85,655,334 (GRCm39) |
N3293K |
probably benign |
Het |
Cdk20 |
T |
A |
13: 64,585,319 (GRCm39) |
V201D |
probably benign |
Het |
Cenpf |
A |
G |
1: 189,385,356 (GRCm39) |
V2308A |
probably benign |
Het |
Chek1 |
T |
C |
9: 36,634,050 (GRCm39) |
|
probably benign |
Het |
Ciz1 |
G |
T |
2: 32,264,356 (GRCm39) |
E497D |
probably damaging |
Het |
Clcn6 |
A |
G |
4: 148,102,067 (GRCm39) |
F339S |
probably damaging |
Het |
Dctpp1 |
G |
A |
7: 126,856,285 (GRCm39) |
R146C |
probably damaging |
Het |
Dennd5a |
C |
T |
7: 109,534,688 (GRCm39) |
|
probably null |
Het |
Dmxl1 |
G |
A |
18: 49,997,029 (GRCm39) |
V442I |
probably benign |
Het |
Dmxl2 |
C |
A |
9: 54,285,993 (GRCm39) |
|
probably null |
Het |
Dnah11 |
A |
G |
12: 117,938,649 (GRCm39) |
I3273T |
probably benign |
Het |
Dnhd1 |
T |
A |
7: 105,364,045 (GRCm39) |
D4132E |
probably damaging |
Het |
Dst |
G |
A |
1: 34,230,363 (GRCm39) |
W2327* |
probably null |
Het |
Epb41 |
A |
T |
4: 131,709,756 (GRCm39) |
|
probably benign |
Het |
Frem2 |
C |
T |
3: 53,559,774 (GRCm39) |
V1578I |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,813,862 (GRCm39) |
T3394A |
probably benign |
Het |
Gabra5 |
C |
T |
7: 57,138,758 (GRCm39) |
D97N |
probably damaging |
Het |
Habp2 |
A |
G |
19: 56,308,054 (GRCm39) |
E546G |
probably benign |
Het |
Hace1 |
A |
G |
10: 45,464,470 (GRCm39) |
|
probably benign |
Het |
Herc4 |
T |
C |
10: 63,123,323 (GRCm39) |
S433P |
probably benign |
Het |
Igf2bp2 |
T |
C |
16: 21,882,426 (GRCm39) |
N425S |
probably damaging |
Het |
Krt26 |
C |
T |
11: 99,226,128 (GRCm39) |
G189S |
probably damaging |
Het |
Lama2 |
A |
T |
10: 26,860,372 (GRCm39) |
D3038E |
probably damaging |
Het |
Lmbrd2 |
T |
C |
15: 9,151,672 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
A |
G |
2: 40,692,996 (GRCm39) |
F3401L |
possibly damaging |
Het |
Map2k7 |
T |
A |
8: 4,297,663 (GRCm39) |
S421R |
possibly damaging |
Het |
Matn1 |
A |
G |
4: 130,679,258 (GRCm39) |
Q304R |
possibly damaging |
Het |
Muc4 |
C |
T |
16: 32,575,647 (GRCm39) |
|
probably benign |
Het |
Muc5b |
G |
A |
7: 141,417,367 (GRCm39) |
V3438M |
probably benign |
Het |
Myo3a |
A |
G |
2: 22,468,182 (GRCm39) |
R479G |
possibly damaging |
Het |
Or7g12 |
T |
C |
9: 18,900,178 (GRCm39) |
V298A |
probably benign |
Het |
Or9g20 |
A |
T |
2: 85,629,820 (GRCm39) |
Y265N |
probably damaging |
Het |
Pcdhgb7 |
A |
T |
18: 37,885,416 (GRCm39) |
E195D |
probably benign |
Het |
Pde4b |
A |
G |
4: 102,412,822 (GRCm39) |
D199G |
probably benign |
Het |
Rnf213 |
C |
T |
11: 119,336,555 (GRCm39) |
Q3309* |
probably null |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Slc22a4 |
C |
G |
11: 53,888,218 (GRCm39) |
C270S |
probably benign |
Het |
Smarca2 |
G |
A |
19: 26,661,327 (GRCm39) |
|
probably null |
Het |
Spata31d1c |
T |
C |
13: 65,183,213 (GRCm39) |
S252P |
probably damaging |
Het |
Tyr |
A |
G |
7: 87,087,148 (GRCm39) |
S455P |
probably benign |
Het |
Urb1 |
A |
T |
16: 90,566,353 (GRCm39) |
M1478K |
probably damaging |
Het |
Usp1 |
A |
G |
4: 98,822,939 (GRCm39) |
D751G |
probably damaging |
Het |
Vmn1r214 |
G |
A |
13: 23,219,520 (GRCm39) |
C338Y |
probably benign |
Het |
Vmn2r103 |
A |
G |
17: 20,013,866 (GRCm39) |
I219M |
possibly damaging |
Het |
Wwp2 |
A |
G |
8: 108,212,253 (GRCm39) |
N139S |
probably benign |
Het |
|
Other mutations in Mzf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00418:Mzf1
|
APN |
7 |
12,778,543 (GRCm39) |
missense |
possibly damaging |
0.85 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAAGGTCTTGCCACATTCG -3'
(R):5'- AGAGTGTGGCCAGAGCTTTC -3'
Sequencing Primer
(F):5'- AAGGGCCGCTCTCCAGTG -3'
(R):5'- TTTCGGCAGCGCTCCAAC -3'
|
Posted On |
2015-11-02 |