Incidental Mutation 'IGL00473:Zfpm2'
| ID |
4099 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfpm2
|
| Ensembl Gene |
ENSMUSG00000022306 |
| Gene Name |
zinc finger protein, multitype 2 |
| Synonyms |
FOG2, B330005D23Rik, FOG-2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00473
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
40518438-40967988 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 40962683 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 247
(K247M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053467]
[ENSMUST00000230319]
|
| AlphaFold |
Q8CCH7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053467
AA Change: K247M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051335
Gene: ENSMUSG00000022306
AA Change: K247M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
35 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
250 |
270 |
4.27e1 |
SMART |
|
ZnF_C2H2
|
296 |
320 |
1.25e-1 |
SMART |
|
ZnF_C2H2
|
335 |
357 |
4.05e-1 |
SMART |
|
ZnF_C2H2
|
363 |
385 |
6.23e-2 |
SMART |
|
ZnF_C2H2
|
548 |
569 |
1.43e1 |
SMART |
|
ZnF_C2H2
|
687 |
714 |
1.06e2 |
SMART |
|
low complexity region
|
731 |
741 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
854 |
874 |
5.4e1 |
SMART |
|
ZnF_C2H2
|
1119 |
1145 |
4.99e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230319
AA Change: K115M
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The zinc finger protein encoded by this gene is a widely expressed member of the FOG family of transcription factors. The family members modulate the activity of GATA family proteins, which are important regulators of hematopoiesis and cardiogenesis in mammals. It has been demonstrated that the protein can both activate and down-regulate expression of GATA-target genes, suggesting different modulation in different promoter contexts. A related mRNA suggests an alternatively spliced product but this information is not yet fully supported by the sequence. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit cardiac defects, including absence of coronary vasculature, resulting in lethality between E12.5 and E15.5. Conditional mutations reveal errors in ovary and testis development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arcn1 |
A |
G |
9: 44,668,444 (GRCm39) |
V264A |
probably benign |
Het |
| Asap1 |
T |
C |
15: 64,045,064 (GRCm39) |
|
probably benign |
Het |
| Brpf1 |
A |
C |
6: 113,293,645 (GRCm39) |
Q571H |
probably damaging |
Het |
| C9orf72 |
C |
T |
4: 35,213,616 (GRCm39) |
G178E |
possibly damaging |
Het |
| Creb3 |
G |
T |
4: 43,565,517 (GRCm39) |
R232L |
probably benign |
Het |
| Cst5 |
G |
T |
2: 149,247,293 (GRCm39) |
S3I |
unknown |
Het |
| Cyp4a14 |
A |
G |
4: 115,347,149 (GRCm39) |
|
probably benign |
Het |
| Daxx |
C |
T |
17: 34,130,581 (GRCm39) |
Q199* |
probably null |
Het |
| Eml5 |
A |
G |
12: 98,771,751 (GRCm39) |
|
probably benign |
Het |
| Gbp6 |
T |
A |
5: 105,422,145 (GRCm39) |
K520* |
probably null |
Het |
| Gcfc2 |
T |
A |
6: 81,921,355 (GRCm39) |
C454S |
probably damaging |
Het |
| Gm9894 |
T |
A |
13: 67,913,236 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr15 |
C |
T |
16: 58,538,441 (GRCm39) |
C216Y |
probably damaging |
Het |
| Gzmn |
T |
C |
14: 56,404,436 (GRCm39) |
K134E |
probably benign |
Het |
| Kat2b |
T |
G |
17: 53,970,651 (GRCm39) |
I679S |
possibly damaging |
Het |
| Klhl10 |
A |
G |
11: 100,347,240 (GRCm39) |
Y478C |
probably damaging |
Het |
| Mapt |
A |
G |
11: 104,178,009 (GRCm39) |
D54G |
probably damaging |
Het |
| Mocs1 |
A |
G |
17: 49,740,229 (GRCm39) |
E52G |
probably benign |
Het |
| Plekhn1 |
T |
G |
4: 156,307,820 (GRCm39) |
T369P |
probably damaging |
Het |
| Prdm6 |
T |
A |
18: 53,673,357 (GRCm39) |
F172L |
probably benign |
Het |
| Prl7b1 |
A |
T |
13: 27,788,573 (GRCm39) |
V94D |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 156,975,387 (GRCm39) |
T1116A |
probably benign |
Het |
| Rreb1 |
A |
T |
13: 38,114,767 (GRCm39) |
K709* |
probably null |
Het |
| Ruvbl1 |
A |
T |
6: 88,468,550 (GRCm39) |
R357W |
probably damaging |
Het |
| Slc4a5 |
T |
C |
6: 83,273,579 (GRCm39) |
L973P |
probably damaging |
Het |
| Srp72 |
A |
G |
5: 77,132,023 (GRCm39) |
Y234C |
probably damaging |
Het |
| Synrg |
G |
A |
11: 83,930,072 (GRCm39) |
M1070I |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,462,512 (GRCm39) |
I889K |
possibly damaging |
Het |
| Zbtb40 |
G |
A |
4: 136,714,651 (GRCm39) |
T1046M |
probably damaging |
Het |
| Zfp978 |
A |
G |
4: 147,475,317 (GRCm39) |
N288S |
probably benign |
Het |
|
| Other mutations in Zfpm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00815:Zfpm2
|
APN |
15 |
40,962,887 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL00821:Zfpm2
|
APN |
15 |
40,966,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01622:Zfpm2
|
APN |
15 |
40,965,320 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01623:Zfpm2
|
APN |
15 |
40,965,320 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01807:Zfpm2
|
APN |
15 |
40,616,452 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01872:Zfpm2
|
APN |
15 |
40,965,783 (GRCm39) |
missense |
probably benign |
|
|
IGL02087:Zfpm2
|
APN |
15 |
40,966,517 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02123:Zfpm2
|
APN |
15 |
40,965,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02355:Zfpm2
|
APN |
15 |
40,962,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02362:Zfpm2
|
APN |
15 |
40,962,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02579:Zfpm2
|
APN |
15 |
40,962,868 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02752:Zfpm2
|
APN |
15 |
40,965,415 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02792:Zfpm2
|
APN |
15 |
40,966,409 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02861:Zfpm2
|
APN |
15 |
40,966,662 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03180:Zfpm2
|
APN |
15 |
40,964,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03344:Zfpm2
|
APN |
15 |
40,966,170 (GRCm39) |
missense |
probably benign |
|
|
R0305:Zfpm2
|
UTSW |
15 |
40,637,431 (GRCm39) |
splice site |
probably benign |
|
|
R0365:Zfpm2
|
UTSW |
15 |
40,637,462 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1171:Zfpm2
|
UTSW |
15 |
40,965,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1456:Zfpm2
|
UTSW |
15 |
40,965,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1482:Zfpm2
|
UTSW |
15 |
40,962,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1580:Zfpm2
|
UTSW |
15 |
40,966,605 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2119:Zfpm2
|
UTSW |
15 |
40,966,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2189:Zfpm2
|
UTSW |
15 |
40,964,579 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2867:Zfpm2
|
UTSW |
15 |
40,962,785 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2867:Zfpm2
|
UTSW |
15 |
40,962,785 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2886:Zfpm2
|
UTSW |
15 |
40,965,719 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3024:Zfpm2
|
UTSW |
15 |
40,966,355 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4043:Zfpm2
|
UTSW |
15 |
40,734,023 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4178:Zfpm2
|
UTSW |
15 |
40,966,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4465:Zfpm2
|
UTSW |
15 |
40,959,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5263:Zfpm2
|
UTSW |
15 |
40,962,791 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5266:Zfpm2
|
UTSW |
15 |
40,962,865 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5352:Zfpm2
|
UTSW |
15 |
40,733,938 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5584:Zfpm2
|
UTSW |
15 |
40,965,933 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5661:Zfpm2
|
UTSW |
15 |
40,959,467 (GRCm39) |
nonsense |
probably null |
|
|
R6437:Zfpm2
|
UTSW |
15 |
40,962,793 (GRCm39) |
missense |
probably benign |
|
|
R6660:Zfpm2
|
UTSW |
15 |
40,518,981 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6742:Zfpm2
|
UTSW |
15 |
40,965,114 (GRCm39) |
missense |
probably benign |
|
|
R6749:Zfpm2
|
UTSW |
15 |
40,818,104 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7363:Zfpm2
|
UTSW |
15 |
40,616,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7401:Zfpm2
|
UTSW |
15 |
40,966,386 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7657:Zfpm2
|
UTSW |
15 |
40,966,671 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7690:Zfpm2
|
UTSW |
15 |
40,818,162 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R7698:Zfpm2
|
UTSW |
15 |
40,959,487 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7893:Zfpm2
|
UTSW |
15 |
40,966,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8081:Zfpm2
|
UTSW |
15 |
40,965,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8223:Zfpm2
|
UTSW |
15 |
40,616,355 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9028:Zfpm2
|
UTSW |
15 |
40,966,758 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9065:Zfpm2
|
UTSW |
15 |
40,962,712 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9234:Zfpm2
|
UTSW |
15 |
40,966,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9474:Zfpm2
|
UTSW |
15 |
40,966,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9694:Zfpm2
|
UTSW |
15 |
40,965,710 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Posted On |
2012-04-20 |
Incidental Mutation