Incidental Mutation 'R1400:Mzf1'
| ID |
160326 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mzf1
|
| Ensembl Gene |
ENSMUSG00000030380 |
| Gene Name |
myeloid zinc finger 1 |
| Synonyms |
Zfp98, Zfp121, Znf42, Mzf2 |
| MMRRC Submission |
039462-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.181)
|
| Stock # |
R1400 (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: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.8%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130008F23Rik |
T |
C |
17: 41,191,195 (GRCm39) |
E78G |
probably damaging |
Het |
| Acsf2 |
T |
C |
11: 94,461,142 (GRCm39) |
I345V |
probably benign |
Het |
| Akap11 |
T |
A |
14: 78,751,402 (GRCm39) |
K328N |
probably damaging |
Het |
| Aoc1 |
T |
A |
6: 48,883,217 (GRCm39) |
Y364* |
probably null |
Het |
| Aoc1 |
A |
T |
6: 48,883,645 (GRCm39) |
Q507L |
probably benign |
Het |
| Atp6v1c2 |
T |
C |
12: 17,339,131 (GRCm39) |
T207A |
probably benign |
Het |
| Atr |
C |
A |
9: 95,744,901 (GRCm39) |
Q73K |
probably benign |
Het |
| Cage1 |
A |
G |
13: 38,216,400 (GRCm39) |
S17P |
possibly damaging |
Het |
| Cfap44 |
A |
T |
16: 44,241,575 (GRCm39) |
I649F |
probably benign |
Het |
| Cops4 |
A |
G |
5: 100,681,412 (GRCm39) |
K200R |
probably damaging |
Het |
| Crygd |
A |
G |
1: 65,102,367 (GRCm39) |
S32P |
probably damaging |
Het |
| Cyp3a11 |
A |
G |
5: 145,799,299 (GRCm39) |
I296T |
probably damaging |
Het |
| Fads3 |
A |
G |
19: 10,033,664 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
T |
C |
18: 58,213,265 (GRCm39) |
E974G |
possibly damaging |
Het |
| Gcgr |
A |
G |
11: 120,425,812 (GRCm39) |
H45R |
probably benign |
Het |
| Gcn1 |
T |
C |
5: 115,752,220 (GRCm39) |
I2112T |
probably damaging |
Het |
| Gm43302 |
A |
T |
5: 105,422,622 (GRCm39) |
I470N |
probably damaging |
Het |
| Hoxa13 |
C |
G |
6: 52,260,647 (GRCm38) |
|
probably benign |
Het |
| Hoxa13 |
G |
C |
6: 52,260,648 (GRCm38) |
|
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Krt13 |
C |
A |
11: 100,012,110 (GRCm39) |
G71V |
probably damaging |
Het |
| Las1l |
T |
C |
X: 94,990,506 (GRCm39) |
T390A |
possibly damaging |
Het |
| Lifr |
T |
A |
15: 7,220,346 (GRCm39) |
V992E |
probably benign |
Het |
| Mbd5 |
T |
C |
2: 49,164,788 (GRCm39) |
|
probably null |
Het |
| Ndst3 |
A |
G |
3: 123,350,477 (GRCm39) |
F636S |
probably damaging |
Het |
| Necab1 |
T |
C |
4: 14,975,185 (GRCm39) |
D232G |
possibly damaging |
Het |
| Nlrp4e |
A |
T |
7: 23,021,085 (GRCm39) |
E524V |
possibly damaging |
Het |
| Nxf3 |
T |
A |
X: 134,976,794 (GRCm39) |
T349S |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Or4c12 |
T |
A |
2: 89,773,886 (GRCm39) |
H191L |
possibly damaging |
Het |
| Or4n5 |
A |
T |
14: 50,133,148 (GRCm39) |
I37K |
possibly damaging |
Het |
| Or7g29 |
A |
G |
9: 19,286,358 (GRCm39) |
V273A |
probably damaging |
Het |
| Or9g19 |
T |
C |
2: 85,600,477 (GRCm39) |
C111R |
possibly damaging |
Het |
| Plscr1l1 |
G |
T |
9: 92,233,180 (GRCm39) |
C25F |
probably benign |
Het |
| Ppm1e |
T |
A |
11: 87,122,592 (GRCm39) |
N455I |
probably damaging |
Het |
| Prkag2 |
G |
A |
5: 25,078,916 (GRCm39) |
T158I |
probably damaging |
Het |
| Ptpn18 |
T |
C |
1: 34,502,587 (GRCm39) |
|
probably null |
Het |
| Rai14 |
T |
G |
15: 10,571,634 (GRCm39) |
K936N |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,035,808 (GRCm39) |
L1077P |
probably damaging |
Het |
| Rgn |
C |
A |
X: 20,416,696 (GRCm39) |
Q27K |
probably benign |
Het |
| Ryr2 |
C |
T |
13: 11,609,962 (GRCm39) |
S723N |
probably benign |
Het |
| Scamp1 |
A |
G |
13: 94,361,455 (GRCm39) |
F142L |
possibly damaging |
Het |
| Selenon |
A |
G |
4: 134,278,829 (GRCm39) |
V67A |
probably benign |
Het |
| Slc5a5 |
T |
C |
8: 71,342,079 (GRCm39) |
I292V |
possibly damaging |
Het |
| Smarca2 |
C |
A |
19: 26,654,140 (GRCm39) |
T775K |
probably damaging |
Het |
| Stab1 |
C |
T |
14: 30,861,787 (GRCm39) |
V2437I |
possibly damaging |
Het |
| Tas2r143 |
C |
T |
6: 42,377,317 (GRCm39) |
A49V |
probably benign |
Het |
| Tlr7 |
T |
A |
X: 166,090,845 (GRCm39) |
N214Y |
probably damaging |
Het |
| Unc13a |
C |
A |
8: 72,103,865 (GRCm39) |
D856Y |
probably damaging |
Het |
| Upp2 |
T |
C |
2: 58,680,118 (GRCm39) |
Y263H |
probably damaging |
Het |
| Vill |
T |
C |
9: 118,892,415 (GRCm39) |
S349P |
probably benign |
Het |
| Zfp644 |
T |
C |
5: 106,785,336 (GRCm39) |
|
probably null |
Het |
| Zfp664 |
T |
C |
5: 124,963,217 (GRCm39) |
C204R |
unknown |
Het |
| Zfp729b |
A |
G |
13: 67,740,913 (GRCm39) |
Y451H |
possibly 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 |
|
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 |
|
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 |
2014-03-14 |
Incidental Mutation