Incidental Mutation 'IGL02584:Mzf1'
ID |
299461 |
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 # |
IGL02584
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
12776230-12788691 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 12786744 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 109
(W109R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138387
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069289]
[ENSMUST00000182087]
[ENSMUST00000182490]
[ENSMUST00000182515]
|
AlphaFold |
S4R1L6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069289
AA Change: W109R
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000069122 Gene: ENSMUSG00000030380 AA Change: W109R
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
AA Change: W109R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000138163 Gene: ENSMUSG00000030380 AA Change: W109R
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: W188R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000138271 Gene: ENSMUSG00000030380 AA Change: W188R
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 damaging
Transcript: ENSMUST00000182515
AA Change: W109R
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000138387 Gene: ENSMUSG00000030380 AA Change: W109R
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110057P08Rik |
A |
T |
16: 88,971,744 (GRCm39) |
Y22F |
unknown |
Het |
Adgrb3 |
A |
G |
1: 25,544,065 (GRCm39) |
L312P |
probably damaging |
Het |
Anpep |
T |
C |
7: 79,475,141 (GRCm39) |
|
probably benign |
Het |
Arhgef6 |
T |
G |
X: 56,291,738 (GRCm39) |
|
probably benign |
Het |
Catsperg1 |
T |
C |
7: 28,884,146 (GRCm39) |
D989G |
probably damaging |
Het |
Ccnj |
T |
A |
19: 40,833,185 (GRCm39) |
V121E |
probably benign |
Het |
Cdyl |
T |
C |
13: 35,867,769 (GRCm39) |
L15P |
probably benign |
Het |
Cnrip1 |
T |
A |
11: 17,028,536 (GRCm39) |
M156K |
probably damaging |
Het |
Cryga |
T |
A |
1: 65,142,175 (GRCm39) |
S73C |
probably benign |
Het |
Dennd4a |
A |
G |
9: 64,758,580 (GRCm39) |
T240A |
probably damaging |
Het |
Eml6 |
A |
G |
11: 29,699,387 (GRCm39) |
S1789P |
probably damaging |
Het |
Esr2 |
A |
T |
12: 76,192,036 (GRCm39) |
W331R |
probably damaging |
Het |
Fbh1 |
A |
T |
2: 11,764,769 (GRCm39) |
L455H |
probably benign |
Het |
Gm21698 |
T |
A |
5: 26,192,391 (GRCm39) |
E65V |
probably damaging |
Het |
Grm8 |
G |
T |
6: 27,762,438 (GRCm39) |
F262L |
probably benign |
Het |
Haus3 |
A |
T |
5: 34,323,602 (GRCm39) |
L336* |
probably null |
Het |
Hfm1 |
A |
C |
5: 107,026,528 (GRCm39) |
|
probably null |
Het |
Hgfac |
T |
C |
5: 35,201,305 (GRCm39) |
|
probably benign |
Het |
Ighv1-22 |
T |
C |
12: 114,709,942 (GRCm39) |
E101G |
probably benign |
Het |
Impg2 |
A |
G |
16: 56,085,374 (GRCm39) |
E1027G |
probably damaging |
Het |
Lypd5 |
A |
T |
7: 24,052,993 (GRCm39) |
T217S |
possibly damaging |
Het |
Myrf |
A |
G |
19: 10,189,587 (GRCm39) |
|
probably benign |
Het |
Ndufb4 |
A |
T |
16: 37,469,532 (GRCm39) |
|
probably benign |
Het |
Ntn1 |
A |
G |
11: 68,168,356 (GRCm39) |
V367A |
probably damaging |
Het |
Oprk1 |
A |
G |
1: 5,668,827 (GRCm39) |
K91R |
probably damaging |
Het |
Or5m11b |
C |
T |
2: 85,806,219 (GRCm39) |
L211F |
probably damaging |
Het |
Pdlim1 |
A |
G |
19: 40,231,844 (GRCm39) |
|
probably null |
Het |
Ppp1r11 |
G |
A |
17: 37,260,781 (GRCm39) |
R61C |
probably damaging |
Het |
Racgap1 |
T |
C |
15: 99,521,515 (GRCm39) |
D547G |
probably benign |
Het |
Sema4b |
A |
G |
7: 79,874,736 (GRCm39) |
T709A |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Supt5 |
T |
C |
7: 28,025,592 (GRCm39) |
H218R |
probably benign |
Het |
Tmem132c |
T |
A |
5: 127,582,063 (GRCm39) |
I426N |
probably damaging |
Het |
Tpcn1 |
T |
C |
5: 120,677,097 (GRCm39) |
N696S |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,566,506 (GRCm39) |
N26383S |
possibly damaging |
Het |
Vax2 |
A |
G |
6: 83,688,495 (GRCm39) |
T73A |
probably benign |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
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 |
|
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 |
2015-04-16 |