Incidental Mutation 'R1128:Mzf1'
| ID |
96395 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mzf1
|
| Ensembl Gene |
ENSMUSG00000030380 |
| Gene Name |
myeloid zinc finger 1 |
| Synonyms |
Zfp98, Zfp121, Znf42, Mzf2 |
| MMRRC Submission |
039201-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.181)
|
| Stock # |
R1128 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
12776230-12788691 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 12786698 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 124
(R124L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138163
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069289]
[ENSMUST00000182087]
[ENSMUST00000182490]
[ENSMUST00000182515]
|
| AlphaFold |
S4R1L6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069289
AA Change: R124L
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000069122
Gene: ENSMUSG00000030380
AA Change: R124L
| 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 |
possibly damaging
Transcript: ENSMUST00000182087
AA Change: R124L
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000138163
Gene: ENSMUSG00000030380
AA Change: R124L
| 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: R203L
PolyPhen 2
Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000138271
Gene: ENSMUSG00000030380
AA Change: R203L
| 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: R124L
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000138387
Gene: ENSMUSG00000030380
AA Change: R124L
| 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 |
0.1109 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.4%
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akp3 |
G |
A |
1: 87,055,593 (GRCm39) |
G547R |
unknown |
Het |
| Amhr2 |
A |
T |
15: 102,361,256 (GRCm39) |
Q402L |
probably benign |
Het |
| Brip1 |
A |
T |
11: 85,955,763 (GRCm39) |
L917M |
possibly damaging |
Het |
| Dennd5a |
G |
A |
7: 109,520,541 (GRCm39) |
R415* |
probably null |
Het |
| Eif2ak1 |
G |
T |
5: 143,835,994 (GRCm39) |
|
probably null |
Het |
| Golga4 |
G |
A |
9: 118,377,852 (GRCm39) |
A458T |
probably benign |
Het |
| H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
| Ift88 |
C |
T |
14: 57,754,476 (GRCm39) |
R762* |
probably null |
Het |
| Kansl2 |
A |
T |
15: 98,431,566 (GRCm39) |
C28* |
probably null |
Het |
| Lct |
T |
C |
1: 128,229,046 (GRCm39) |
R816G |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,919,769 (GRCm39) |
N6809S |
probably null |
Het |
| Pak6 |
A |
G |
2: 118,526,990 (GRCm39) |
T662A |
probably benign |
Het |
| Pglyrp3 |
T |
C |
3: 91,935,479 (GRCm39) |
F243S |
probably benign |
Het |
| Rab44 |
T |
C |
17: 29,359,435 (GRCm39) |
V541A |
possibly damaging |
Het |
| Slc39a6 |
G |
T |
18: 24,718,349 (GRCm39) |
H569Q |
probably damaging |
Het |
| Slc4a7 |
T |
C |
14: 14,733,832 (GRCm38) |
S87P |
probably damaging |
Het |
| Spocd1 |
T |
C |
4: 129,850,599 (GRCm39) |
V875A |
possibly damaging |
Het |
| Tspan17 |
A |
G |
13: 54,942,984 (GRCm39) |
D146G |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCATCCAAAGTCCTGAACTTCCCC -3'
(R):5'- GCTACGCCCAGAAGTACATTCCAAG -3'
Sequencing Primer
(F):5'- CTCTTTTGACCTTGAGCAGAAAGC -3'
(R):5'- TACATTCCAAGGAACAGGTGC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation