Incidental Mutation 'R2189:Zfpm2'
| ID |
237991 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfpm2
|
| Ensembl Gene |
ENSMUSG00000022306 |
| Gene Name |
zinc finger protein, multitype 2 |
| Synonyms |
FOG2, B330005D23Rik, FOG-2 |
| MMRRC Submission |
040191-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2189 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
40518438-40967988 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 40964579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 223
(F223I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155094
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053467]
[ENSMUST00000230319]
|
| AlphaFold |
Q8CCH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053467
AA Change: F355I
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000051335
Gene: ENSMUSG00000022306
AA Change: F355I
| 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 |
possibly damaging
Transcript: ENSMUST00000230319
AA Change: F223I
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
G |
C |
7: 78,747,839 (GRCm39) |
G870A |
probably damaging |
Het |
| Adamtsl2 |
T |
C |
2: 26,971,750 (GRCm39) |
W12R |
probably benign |
Het |
| Bsph1 |
G |
A |
7: 13,204,254 (GRCm39) |
|
probably null |
Het |
| Celsr1 |
G |
T |
15: 85,863,431 (GRCm39) |
H1200Q |
possibly damaging |
Het |
| Clptm1 |
A |
T |
7: 19,371,070 (GRCm39) |
Y355* |
probably null |
Het |
| Cry2 |
T |
C |
2: 92,242,037 (GRCm39) |
E572G |
possibly damaging |
Het |
| Dlk1 |
G |
A |
12: 109,420,975 (GRCm39) |
|
probably null |
Het |
| Eral1 |
A |
G |
11: 77,966,657 (GRCm39) |
V201A |
probably benign |
Het |
| Esrp1 |
A |
T |
4: 11,357,603 (GRCm39) |
M503K |
probably benign |
Het |
| Fam83e |
G |
T |
7: 45,371,607 (GRCm39) |
M1I |
probably null |
Het |
| Flt4 |
G |
A |
11: 49,526,525 (GRCm39) |
A835T |
probably benign |
Het |
| H2bc15 |
A |
G |
13: 21,938,447 (GRCm39) |
D52G |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,903,244 (GRCm39) |
S562G |
probably null |
Het |
| Icosl |
A |
G |
10: 77,909,759 (GRCm39) |
T235A |
possibly damaging |
Het |
| Itga6 |
A |
G |
2: 71,655,961 (GRCm39) |
D295G |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lipa |
A |
T |
19: 34,502,199 (GRCm39) |
L15Q |
probably benign |
Het |
| Mcc |
T |
C |
18: 44,667,297 (GRCm39) |
E218G |
possibly damaging |
Het |
| Mdga2 |
A |
G |
12: 66,519,970 (GRCm39) |
|
probably null |
Het |
| Mmadhc |
A |
C |
2: 50,178,958 (GRCm39) |
C153W |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,112,430 (GRCm39) |
D1799G |
probably damaging |
Het |
| Nlrp1b |
T |
A |
11: 71,060,621 (GRCm39) |
Q729L |
probably damaging |
Het |
| Ofcc1 |
T |
A |
13: 40,333,924 (GRCm39) |
Q389L |
probably benign |
Het |
| Or52b2 |
A |
G |
7: 104,986,809 (GRCm39) |
V38A |
probably benign |
Het |
| Or5m5 |
A |
G |
2: 85,814,412 (GRCm39) |
D76G |
probably damaging |
Het |
| Or5p4 |
A |
T |
7: 107,680,243 (GRCm39) |
M81L |
possibly damaging |
Het |
| Or5p50 |
T |
C |
7: 107,421,822 (GRCm39) |
I285V |
probably benign |
Het |
| Pml |
T |
C |
9: 58,142,157 (GRCm39) |
N225S |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,321,187 (GRCm39) |
E1215G |
probably benign |
Het |
| Scap |
T |
A |
9: 110,206,761 (GRCm39) |
I402N |
probably damaging |
Het |
| Sgsm2 |
A |
G |
11: 74,743,908 (GRCm39) |
L886P |
probably damaging |
Het |
| Sugct |
T |
C |
13: 17,836,851 (GRCm39) |
I104V |
probably benign |
Het |
| Tmem200c |
A |
G |
17: 69,147,681 (GRCm39) |
Q88R |
probably damaging |
Het |
| Tnfrsf1a |
T |
A |
6: 125,334,768 (GRCm39) |
L14Q |
probably benign |
Het |
| Tnk2 |
C |
T |
16: 32,490,239 (GRCm39) |
L381F |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,254,290 (GRCm39) |
V1454I |
probably benign |
Het |
| V1ra8 |
A |
C |
6: 90,179,944 (GRCm39) |
D49A |
probably damaging |
Het |
| Vmn2r5 |
A |
C |
3: 64,417,014 (GRCm39) |
M48R |
probably benign |
Het |
| Yars1 |
A |
G |
4: 129,099,982 (GRCm39) |
I227V |
probably damaging |
Het |
| Zfp850 |
C |
A |
7: 27,688,480 (GRCm39) |
R576L |
probably benign |
Het |
|
| Other mutations in Zfpm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00473:Zfpm2
|
APN |
15 |
40,962,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTAAGGTTTCCATCACTGGG -3'
(R):5'- TTGCATCCTTAGTCGGCATG -3'
Sequencing Primer
(F):5'- GAAACAAACAGGTGTGGCTCTC -3'
(R):5'- TCTGGCCAACAAGTCTGTG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation