Incidental Mutation 'R7066:Mzf1'
ID |
548566 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mzf1
|
Ensembl Gene |
ENSMUSG00000030380 |
Gene Name |
myeloid zinc finger 1 |
Synonyms |
Zfp98, Zfp121, Znf42, Mzf2 |
MMRRC Submission |
045162-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.181)
|
Stock # |
R7066 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
12776230-12788691 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 12777490 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 638
(V638E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138387
(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 |
possibly damaging
Transcript: ENSMUST00000182490
AA Change: V717E
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000138271 Gene: ENSMUSG00000030380 AA Change: V717E
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: V638E
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000138387 Gene: ENSMUSG00000030380 AA Change: V638E
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (52/53) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
T |
C |
19: 31,904,514 (GRCm39) |
V175A |
probably damaging |
Het |
Adamts5 |
A |
T |
16: 85,659,652 (GRCm39) |
V880E |
probably damaging |
Het |
Adgrf1 |
T |
A |
17: 43,621,151 (GRCm39) |
F463I |
probably benign |
Het |
Ano1 |
T |
A |
7: 144,190,823 (GRCm39) |
E249D |
probably benign |
Het |
Aoc1 |
A |
G |
6: 48,885,553 (GRCm39) |
D686G |
probably damaging |
Het |
Cacna1d |
A |
T |
14: 30,074,935 (GRCm39) |
|
probably benign |
Het |
Cdc42ep4 |
A |
G |
11: 113,620,044 (GRCm39) |
S116P |
probably damaging |
Het |
Ces2a |
T |
C |
8: 105,466,880 (GRCm39) |
V463A |
probably damaging |
Het |
Depdc5 |
A |
G |
5: 33,059,192 (GRCm39) |
D297G |
probably benign |
Het |
Fsip2 |
T |
A |
2: 82,821,235 (GRCm39) |
V5656E |
possibly damaging |
Het |
Gbp5 |
A |
G |
3: 142,213,490 (GRCm39) |
T469A |
probably benign |
Het |
Gm21663 |
C |
G |
5: 26,146,259 (GRCm39) |
|
probably null |
Het |
Iqch |
A |
G |
9: 63,432,027 (GRCm39) |
V456A |
probably benign |
Het |
Lpcat1 |
A |
C |
13: 73,659,500 (GRCm39) |
I373L |
probably benign |
Het |
Morc2b |
C |
T |
17: 33,355,610 (GRCm39) |
V721I |
probably benign |
Het |
Mrgprb1 |
C |
T |
7: 48,097,424 (GRCm39) |
V163M |
probably benign |
Het |
Mtfr2 |
A |
G |
10: 20,229,972 (GRCm39) |
I142V |
possibly damaging |
Het |
Muc16 |
A |
T |
9: 18,569,317 (GRCm39) |
S1067R |
unknown |
Het |
Myh14 |
T |
C |
7: 44,280,179 (GRCm39) |
S892G |
possibly damaging |
Het |
Mylk2 |
C |
T |
2: 152,753,588 (GRCm39) |
|
probably null |
Het |
Ncoa1 |
C |
T |
12: 4,372,934 (GRCm39) |
V156I |
possibly damaging |
Het |
Nf1 |
A |
G |
11: 79,447,546 (GRCm39) |
E2450G |
probably damaging |
Het |
Or14j3 |
T |
A |
17: 37,901,034 (GRCm39) |
D70V |
probably damaging |
Het |
Or1e29 |
A |
G |
11: 73,668,018 (GRCm39) |
I45T |
probably damaging |
Het |
Or4a72 |
T |
C |
2: 89,406,047 (GRCm39) |
T8A |
probably damaging |
Het |
Or4f60 |
G |
A |
2: 111,902,541 (GRCm39) |
P129L |
probably damaging |
Het |
Or5t7 |
T |
A |
2: 86,507,570 (GRCm39) |
T36S |
possibly damaging |
Het |
Or6c88 |
T |
C |
10: 129,407,373 (GRCm39) |
L283S |
probably damaging |
Het |
Or8g54 |
A |
G |
9: 39,707,420 (GRCm39) |
I250V |
probably benign |
Het |
Or8k17 |
T |
C |
2: 86,067,002 (GRCm39) |
D52G |
probably damaging |
Het |
P4htm |
T |
G |
9: 108,474,162 (GRCm39) |
K125N |
probably damaging |
Het |
Patj |
A |
G |
4: 98,301,434 (GRCm39) |
T240A |
probably benign |
Het |
Pcolce2 |
T |
C |
9: 95,563,674 (GRCm39) |
V220A |
probably benign |
Het |
Pcyox1 |
A |
T |
6: 86,371,478 (GRCm39) |
I136N |
probably damaging |
Het |
Pde4b |
A |
G |
4: 102,460,003 (GRCm39) |
S395G |
probably benign |
Het |
Peg3 |
C |
A |
7: 6,711,856 (GRCm39) |
R1122L |
probably damaging |
Het |
Plekhm1 |
A |
G |
11: 103,261,814 (GRCm39) |
V922A |
possibly damaging |
Het |
Rad51c |
T |
C |
11: 87,293,502 (GRCm39) |
N118S |
possibly damaging |
Het |
Rb1cc1 |
T |
A |
1: 6,320,229 (GRCm39) |
V1216D |
possibly damaging |
Het |
Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
Rlf |
T |
C |
4: 121,005,984 (GRCm39) |
M999V |
probably benign |
Het |
Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,125 (GRCm39) |
|
probably benign |
Het |
Samd7 |
G |
C |
3: 30,805,272 (GRCm39) |
K18N |
probably benign |
Het |
Sema5b |
A |
C |
16: 35,471,682 (GRCm39) |
D425A |
probably benign |
Het |
Siglecg |
A |
G |
7: 43,061,166 (GRCm39) |
E413G |
probably benign |
Het |
Tcaf1 |
A |
T |
6: 42,656,111 (GRCm39) |
N288K |
probably damaging |
Het |
Tdp1 |
A |
G |
12: 99,860,991 (GRCm39) |
D210G |
probably benign |
Het |
Umps |
A |
T |
16: 33,782,103 (GRCm39) |
L273* |
probably null |
Het |
Vcan |
A |
T |
13: 89,853,805 (GRCm39) |
V385D |
probably damaging |
Het |
Wdr59 |
T |
C |
8: 112,192,477 (GRCm39) |
T676A |
probably benign |
Het |
Zdbf2 |
A |
G |
1: 63,346,718 (GRCm39) |
H1699R |
probably benign |
Het |
Zfp27 |
AATCCGCTTGTGCA |
AA |
7: 29,594,446 (GRCm39) |
|
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 |
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 |
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'- TACTCAGTGCTGTGGACACG -3'
(R):5'- AATGTGGCAAGACCTTCCG -3'
Sequencing Primer
(F):5'- TTGAAGCGTCGGCCACAG -3'
(R):5'- AAGACCTTCCGCCAGCG -3'
|
Posted On |
2019-05-13 |