Incidental Mutation 'R9289:Mzf1'
| ID |
704139 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mzf1
|
| Ensembl Gene |
ENSMUSG00000030380 |
| Gene Name |
myeloid zinc finger 1 |
| Synonyms |
Zfp98, Zfp121, Znf42, Mzf2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.204)
|
| Stock # |
R9289 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12776230-12788691 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 12785534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 299
(H299L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069289]
[ENSMUST00000182087]
[ENSMUST00000182490]
[ENSMUST00000182515]
|
| AlphaFold |
S4R1L6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069289
AA Change: H220L
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000069122
Gene: ENSMUSG00000030380
AA Change: H220L
| 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: M159L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000138163
Gene: ENSMUSG00000030380
AA Change: M159L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
34 |
N/A |
INTRINSIC |
|
SCAN
|
41 |
152 |
9.06e-58 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182490
AA Change: H299L
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000138271
Gene: ENSMUSG00000030380
AA Change: H299L
| 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: H220L
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000138387
Gene: ENSMUSG00000030380
AA Change: H220L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (53/53) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
C |
T |
5: 144,982,333 (GRCm39) |
T306I |
probably benign |
Het |
| Aurkb |
T |
C |
11: 68,941,175 (GRCm39) |
I250T |
probably damaging |
Het |
| C1qtnf1 |
A |
G |
11: 118,334,672 (GRCm39) |
T51A |
probably benign |
Het |
| C1rb |
G |
T |
6: 124,552,272 (GRCm39) |
R330L |
possibly damaging |
Het |
| Cd8b1 |
G |
A |
6: 71,306,777 (GRCm39) |
|
probably null |
Het |
| Cep57l1 |
A |
T |
10: 41,607,082 (GRCm39) |
D160E |
probably damaging |
Het |
| Ces1f |
C |
T |
8: 93,992,491 (GRCm39) |
S320N |
probably benign |
Het |
| Cfap54 |
A |
G |
10: 92,656,936 (GRCm39) |
S3039P |
possibly damaging |
Het |
| Chia1 |
A |
T |
3: 106,022,502 (GRCm39) |
|
probably benign |
Het |
| Chka |
T |
G |
19: 3,935,953 (GRCm39) |
F220V |
possibly damaging |
Het |
| Cmtm2b |
A |
G |
8: 105,048,980 (GRCm39) |
|
probably benign |
Het |
| Dgcr8 |
C |
T |
16: 18,098,079 (GRCm39) |
|
probably benign |
Het |
| Dhx30 |
T |
C |
9: 109,920,603 (GRCm39) |
T304A |
possibly damaging |
Het |
| Dhx30 |
A |
T |
9: 109,922,189 (GRCm39) |
D164E |
probably benign |
Het |
| Dip2b |
A |
T |
15: 100,071,152 (GRCm39) |
K661I |
probably damaging |
Het |
| Dlgap4 |
G |
T |
2: 156,546,514 (GRCm39) |
R394L |
possibly damaging |
Het |
| Dop1b |
T |
A |
16: 93,568,681 (GRCm39) |
L1581H |
probably damaging |
Het |
| Fam219a |
C |
A |
4: 41,521,942 (GRCm39) |
G46V |
probably damaging |
Het |
| Fer1l6 |
G |
A |
15: 58,490,766 (GRCm39) |
V1028M |
probably damaging |
Het |
| Glb1 |
C |
A |
9: 114,249,558 (GRCm39) |
A129E |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,447,608 (GRCm39) |
V1767A |
probably benign |
Het |
| Ift88 |
T |
A |
14: 57,718,199 (GRCm39) |
S591T |
probably benign |
Het |
| Itgb4 |
A |
G |
11: 115,885,187 (GRCm39) |
K1023R |
probably benign |
Het |
| Mfng |
C |
A |
15: 78,643,457 (GRCm39) |
S250I |
probably damaging |
Het |
| Mmp9 |
A |
G |
2: 164,796,800 (GRCm39) |
T723A |
probably benign |
Het |
| Naa40 |
T |
C |
19: 7,211,485 (GRCm39) |
K47E |
possibly damaging |
Het |
| Ncdn |
A |
C |
4: 126,643,903 (GRCm39) |
F306L |
possibly damaging |
Het |
| Notch3 |
A |
G |
17: 32,377,254 (GRCm39) |
C246R |
probably damaging |
Het |
| Npc1l1 |
A |
T |
11: 6,168,355 (GRCm39) |
Y945* |
probably null |
Het |
| Or2av9 |
T |
A |
11: 58,380,745 (GRCm39) |
I279L |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or2y14 |
C |
T |
11: 49,404,635 (GRCm39) |
P57S |
probably damaging |
Het |
| Or52n5 |
T |
C |
7: 104,587,816 (GRCm39) |
W28R |
probably damaging |
Het |
| Pcnx1 |
C |
A |
12: 82,028,853 (GRCm39) |
D1044E |
|
Het |
| Pgm2l1 |
T |
A |
7: 99,919,629 (GRCm39) |
I575K |
probably damaging |
Het |
| Plat |
T |
C |
8: 23,272,100 (GRCm39) |
I553T |
probably damaging |
Het |
| Prrc2c |
A |
G |
1: 162,507,130 (GRCm39) |
V2513A |
probably benign |
Het |
| Qser1 |
A |
T |
2: 104,617,593 (GRCm39) |
V983E |
possibly damaging |
Het |
| Ring1 |
A |
G |
17: 34,241,547 (GRCm39) |
S190P |
possibly damaging |
Het |
| Rnf150 |
A |
G |
8: 83,716,982 (GRCm39) |
E163G |
probably benign |
Het |
| Scgb2b12 |
T |
C |
7: 32,026,060 (GRCm39) |
H44R |
probably benign |
Het |
| Septin4 |
T |
A |
11: 87,459,792 (GRCm39) |
C513* |
probably null |
Het |
| Shtn1 |
T |
C |
19: 58,998,257 (GRCm39) |
K379E |
probably damaging |
Het |
| Slc52a2 |
G |
T |
15: 76,424,475 (GRCm39) |
V238L |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,744,639 (GRCm39) |
H3171R |
possibly damaging |
Het |
| Tada3 |
A |
G |
6: 113,347,264 (GRCm39) |
V342A |
possibly damaging |
Het |
| Tbc1d20 |
T |
C |
2: 152,153,262 (GRCm39) |
V264A |
probably damaging |
Het |
| Tmco5 |
G |
A |
2: 116,710,745 (GRCm39) |
A22T |
probably benign |
Het |
| Tmem63b |
A |
G |
17: 45,975,697 (GRCm39) |
F549S |
probably benign |
Het |
| Trav16d-dv11 |
T |
C |
14: 53,285,086 (GRCm39) |
F54S |
probably benign |
Het |
| Trim7 |
A |
T |
11: 48,736,281 (GRCm39) |
K5* |
probably null |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Zfp78 |
T |
C |
7: 6,381,367 (GRCm39) |
I139T |
probably benign |
Het |
| Zfp839 |
T |
A |
12: 110,834,878 (GRCm39) |
V711D |
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 |
|
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 |
|
R9792:Mzf1
|
UTSW |
7 |
12,786,131 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTCTTGAGTAGGGGCAGAG -3'
(R):5'- TCCCTAGAGCTCCTGGAATC -3'
Sequencing Primer
(F):5'- GGGCTCATAGATGTAGTGGAAC -3'
(R):5'- TAGAGCTCCTGGAATCTGGGC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation