Incidental Mutation 'R7059:Mzf1'
| ID |
548121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mzf1
|
| Ensembl Gene |
ENSMUSG00000030380 |
| Gene Name |
myeloid zinc finger 1 |
| Synonyms |
Zfp98, Zfp121, Znf42, Mzf2 |
| MMRRC Submission |
045156-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.181)
|
| Stock # |
R7059 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12776230-12788691 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 12786985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 28
(S28R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138163
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069289]
[ENSMUST00000182087]
[ENSMUST00000182490]
[ENSMUST00000182515]
|
| AlphaFold |
S4R1L6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069289
AA Change: S28R
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000069122
Gene: ENSMUSG00000030380
AA Change: S28R
| 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 damaging
Transcript: ENSMUST00000182087
AA Change: S28R
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000138163
Gene: ENSMUSG00000030380
AA Change: S28R
| 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: S107R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000138271
Gene: ENSMUSG00000030380
AA Change: S107R
| 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: S28R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000138387
Gene: ENSMUSG00000030380
AA Change: S28R
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (54/55) |
| 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 |
|---|
| 9430097D07Rik |
T |
C |
2: 32,464,509 (GRCm39) |
|
probably benign |
Het |
| Abca16 |
A |
G |
7: 120,020,971 (GRCm39) |
T5A |
probably benign |
Het |
| Abraxas1 |
T |
C |
5: 100,954,103 (GRCm39) |
D349G |
probably benign |
Het |
| Adcyap1r1 |
T |
A |
6: 55,468,295 (GRCm39) |
L405Q |
probably damaging |
Het |
| Aqp5 |
A |
T |
15: 99,492,127 (GRCm39) |
T125S |
probably benign |
Het |
| Asah1 |
A |
T |
8: 41,800,106 (GRCm39) |
N169K |
probably damaging |
Het |
| Atl3 |
A |
G |
19: 7,511,333 (GRCm39) |
N515D |
probably benign |
Het |
| Atl3 |
A |
C |
19: 7,511,334 (GRCm39) |
N520T |
probably benign |
Het |
| Atp6v1c2 |
C |
A |
12: 17,339,005 (GRCm39) |
E249* |
probably null |
Het |
| Bcl2a1b |
T |
A |
9: 89,081,813 (GRCm39) |
I134K |
probably damaging |
Het |
| Brd10 |
T |
A |
19: 29,696,945 (GRCm39) |
E849D |
probably benign |
Het |
| Btbd10 |
C |
T |
7: 112,929,129 (GRCm39) |
R159H |
probably damaging |
Het |
| Chmp6 |
T |
C |
11: 119,806,866 (GRCm39) |
F7L |
probably damaging |
Het |
| Colq |
C |
A |
14: 31,247,991 (GRCm39) |
C409F |
probably damaging |
Het |
| Cpox |
T |
A |
16: 58,491,290 (GRCm39) |
V167E |
probably damaging |
Het |
| Cul3 |
T |
C |
1: 80,254,141 (GRCm39) |
Y545C |
probably benign |
Het |
| Dqx1 |
C |
T |
6: 83,041,790 (GRCm39) |
A544V |
probably benign |
Het |
| Dzip3 |
A |
G |
16: 48,801,305 (GRCm39) |
I73T |
probably benign |
Het |
| Epha3 |
T |
A |
16: 63,388,818 (GRCm39) |
Y810F |
probably damaging |
Het |
| Esp36 |
A |
T |
17: 38,727,942 (GRCm39) |
I113N |
unknown |
Het |
| Fbxw17 |
T |
A |
13: 50,586,584 (GRCm39) |
W429R |
probably damaging |
Het |
| Fcrl2 |
A |
T |
3: 87,164,647 (GRCm39) |
I293N |
possibly damaging |
Het |
| Fhad1 |
CGG |
CG |
4: 141,645,602 (GRCm39) |
|
probably null |
Het |
| Gm8126 |
T |
A |
14: 43,118,975 (GRCm39) |
L148H |
probably benign |
Het |
| Gpr39 |
C |
A |
1: 125,605,696 (GRCm39) |
S208Y |
probably damaging |
Het |
| Heatr5a |
T |
C |
12: 51,935,017 (GRCm39) |
E1662G |
probably damaging |
Het |
| Hgfac |
T |
A |
5: 35,201,773 (GRCm39) |
L302Q |
possibly damaging |
Het |
| Itih1 |
G |
A |
14: 30,653,266 (GRCm39) |
H721Y |
possibly damaging |
Het |
| Kat8 |
A |
G |
7: 127,524,075 (GRCm39) |
I372V |
probably benign |
Het |
| Kcnk1 |
T |
A |
8: 126,756,466 (GRCm39) |
Y329* |
probably null |
Het |
| Kcns2 |
A |
T |
15: 34,838,981 (GRCm39) |
I115F |
probably damaging |
Het |
| Kif1a |
C |
T |
1: 92,974,551 (GRCm39) |
|
probably benign |
Het |
| Lcn2 |
T |
A |
2: 32,277,608 (GRCm39) |
D127V |
possibly damaging |
Het |
| Lrfn1 |
T |
C |
7: 28,166,355 (GRCm39) |
V583A |
possibly damaging |
Het |
| Map3k1 |
T |
C |
13: 111,909,312 (GRCm39) |
I55V |
probably benign |
Het |
| Mapk9 |
T |
C |
11: 49,757,874 (GRCm39) |
|
probably null |
Het |
| Mrpl18 |
A |
G |
17: 13,132,668 (GRCm39) |
S154P |
possibly damaging |
Het |
| Mst1 |
C |
A |
9: 107,961,263 (GRCm39) |
H524Q |
probably benign |
Het |
| Mtpap |
T |
C |
18: 4,396,202 (GRCm39) |
L498P |
probably damaging |
Het |
| Myl3 |
C |
T |
9: 110,571,105 (GRCm39) |
|
probably benign |
Het |
| Myrfl |
T |
C |
10: 116,685,111 (GRCm39) |
T90A |
probably benign |
Het |
| Olfm1 |
T |
C |
2: 28,112,628 (GRCm39) |
S205P |
probably damaging |
Het |
| Or52e8 |
A |
T |
7: 104,625,224 (GRCm39) |
|
probably null |
Het |
| Prrc2a |
G |
A |
17: 35,376,364 (GRCm39) |
P809S |
probably damaging |
Het |
| Rab5c |
G |
A |
11: 100,610,789 (GRCm39) |
R40C |
probably damaging |
Het |
| Rbm48 |
A |
T |
5: 3,640,625 (GRCm39) |
C251* |
probably null |
Het |
| Rxfp1 |
A |
T |
3: 79,559,576 (GRCm39) |
V415E |
probably damaging |
Het |
| Slc12a6 |
T |
A |
2: 112,183,257 (GRCm39) |
L748Q |
probably damaging |
Het |
| Slc19a3 |
T |
A |
1: 83,000,090 (GRCm39) |
Y309F |
probably damaging |
Het |
| Slc36a1 |
A |
G |
11: 55,114,498 (GRCm39) |
D192G |
probably damaging |
Het |
| Slc38a4 |
G |
T |
15: 96,906,895 (GRCm39) |
S281* |
probably null |
Het |
| Syne1 |
A |
T |
10: 5,296,859 (GRCm39) |
S1201T |
probably damaging |
Het |
| Tex15 |
C |
A |
8: 34,064,758 (GRCm39) |
T1396K |
possibly damaging |
Het |
| Zswim8 |
G |
T |
14: 20,764,641 (GRCm39) |
|
probably null |
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 |
|
|
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'- AGAGCTCTAGCACCTGTTCC -3'
(R):5'- TGGCTCATATAGAGTTCCCACG -3'
Sequencing Primer
(F):5'- AGCACCTGTTCCTTGGAATG -3'
(R):5'- ATGGCACTCAGTCAGCATTCG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation