Incidental Mutation 'R3736:Zfpm1'
| ID |
270128 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfpm1
|
| Ensembl Gene |
ENSMUSG00000049577 |
| Gene Name |
zinc finger protein, multitype 1 |
| Synonyms |
Fog1, Friend of GATA-1 |
| MMRRC Submission |
040723-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.797)
|
| Stock # |
R3736 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
123008880-123063990 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 123050475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 117
(C117Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058037
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054052]
[ENSMUST00000127664]
|
| AlphaFold |
O35615 |
| PDB Structure |
Solution structure of the third zinc finger domain of FOG-1 [SOLUTION NMR]
Solution structure of the PR domain of FOG-1 [SOLUTION NMR]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054052
AA Change: C117Y
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000058037
Gene: ENSMUSG00000049577
AA Change: C117Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
94 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
255 |
275 |
3.13e1 |
SMART |
|
ZnF_C2H2
|
303 |
327 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
333 |
355 |
1.53e-1 |
SMART |
|
ZnF_C2H2
|
361 |
384 |
9.46e0 |
SMART |
|
low complexity region
|
508 |
525 |
N/A |
INTRINSIC |
|
low complexity region
|
570 |
578 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
590 |
610 |
1.41e2 |
SMART |
|
low complexity region
|
626 |
643 |
N/A |
INTRINSIC |
|
low complexity region
|
644 |
663 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
696 |
723 |
1.78e2 |
SMART |
|
low complexity region
|
725 |
755 |
N/A |
INTRINSIC |
|
low complexity region
|
761 |
779 |
N/A |
INTRINSIC |
|
low complexity region
|
785 |
806 |
N/A |
INTRINSIC |
|
low complexity region
|
823 |
834 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
836 |
856 |
7.77e1 |
SMART |
|
ZnF_C2H2
|
868 |
891 |
1.96e1 |
SMART |
|
low complexity region
|
948 |
961 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
963 |
989 |
4.99e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176883
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (53/53) |
| MGI Phenotype |
PHENOTYPE: Homozygous mutants have poorly vascularized yolk sacs and small, pale livers. Mutants die between embryonic days 10.5 and 12.5 with severe anemia associated with a block in megakaryocyte development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
G |
A |
7: 29,273,996 (GRCm39) |
|
noncoding transcript |
Het |
| Acot12 |
T |
A |
13: 91,932,465 (GRCm39) |
I487N |
probably benign |
Het |
| Acox3 |
A |
G |
5: 35,768,497 (GRCm39) |
K686R |
probably benign |
Het |
| Adgrf2 |
T |
C |
17: 43,021,903 (GRCm39) |
E307G |
probably benign |
Het |
| Ang2 |
G |
A |
14: 51,433,113 (GRCm39) |
R90* |
probably null |
Het |
| Ankrd11 |
A |
T |
8: 123,618,524 (GRCm39) |
V1776D |
probably damaging |
Het |
| Atp12a |
G |
A |
14: 56,611,884 (GRCm39) |
V353I |
possibly damaging |
Het |
| Bbs7 |
A |
G |
3: 36,661,819 (GRCm39) |
Y127H |
possibly damaging |
Het |
| C8a |
T |
C |
4: 104,674,812 (GRCm39) |
E509G |
probably benign |
Het |
| Ccdc158 |
A |
C |
5: 92,780,283 (GRCm39) |
L930R |
possibly damaging |
Het |
| Ccdc162 |
T |
C |
10: 41,465,564 (GRCm39) |
|
probably null |
Het |
| Cep170b |
A |
T |
12: 112,707,438 (GRCm39) |
I395F |
probably damaging |
Het |
| Cimip2c |
A |
T |
5: 30,639,442 (GRCm39) |
Y123F |
probably benign |
Het |
| Clcn3 |
T |
A |
8: 61,436,686 (GRCm39) |
|
probably benign |
Het |
| Ctps1 |
T |
C |
4: 120,400,943 (GRCm39) |
T459A |
probably benign |
Het |
| Cyp2j8 |
T |
A |
4: 96,332,836 (GRCm39) |
R503S |
probably damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,598,109 (GRCm39) |
V1767I |
probably benign |
Het |
| Evi5 |
A |
T |
5: 107,966,849 (GRCm39) |
V224D |
probably damaging |
Het |
| F8 |
G |
A |
X: 74,254,981 (GRCm39) |
P2138S |
probably damaging |
Het |
| Helq |
T |
G |
5: 100,938,054 (GRCm39) |
D464A |
possibly damaging |
Het |
| Irag1 |
A |
G |
7: 110,523,170 (GRCm39) |
V297A |
probably benign |
Het |
| Irag2 |
G |
A |
6: 145,106,596 (GRCm39) |
|
probably benign |
Het |
| Kcnk10 |
A |
G |
12: 98,456,171 (GRCm39) |
V203A |
probably benign |
Het |
| Lef1 |
C |
T |
3: 130,984,715 (GRCm39) |
P160S |
possibly damaging |
Het |
| Lyn |
G |
T |
4: 3,745,330 (GRCm39) |
W78C |
probably damaging |
Het |
| Med12l |
T |
A |
3: 58,998,916 (GRCm39) |
H614Q |
probably damaging |
Het |
| Mogs |
C |
A |
6: 83,093,757 (GRCm39) |
T242K |
possibly damaging |
Het |
| Morc3 |
T |
A |
16: 93,671,700 (GRCm39) |
V910E |
probably damaging |
Het |
| Ncapg |
A |
T |
5: 45,853,469 (GRCm39) |
Q906L |
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,027,320 (GRCm39) |
Y234C |
probably damaging |
Het |
| Olr1 |
T |
A |
6: 129,476,838 (GRCm39) |
|
probably benign |
Het |
| Or5p76 |
A |
G |
7: 108,122,626 (GRCm39) |
V177A |
possibly damaging |
Het |
| Osmr |
A |
T |
15: 6,851,561 (GRCm39) |
Y656N |
probably damaging |
Het |
| Pde4dip |
A |
T |
3: 97,631,427 (GRCm39) |
F1161I |
probably damaging |
Het |
| Poc5 |
A |
G |
13: 96,533,324 (GRCm39) |
S151G |
probably damaging |
Het |
| Rmnd5a |
T |
C |
6: 71,373,846 (GRCm39) |
D316G |
possibly damaging |
Het |
| Shroom3 |
T |
C |
5: 93,112,303 (GRCm39) |
V1888A |
possibly damaging |
Het |
| Shtn1 |
A |
T |
19: 59,010,700 (GRCm39) |
S256T |
probably benign |
Het |
| Sptlc2 |
G |
A |
12: 87,388,339 (GRCm39) |
A381V |
probably benign |
Het |
| Suclg2 |
T |
A |
6: 95,474,677 (GRCm39) |
I363F |
probably damaging |
Het |
| Tas2r134 |
C |
A |
2: 51,517,786 (GRCm39) |
N88K |
probably damaging |
Het |
| Tbc1d32 |
A |
G |
10: 56,005,189 (GRCm39) |
Y815H |
probably damaging |
Het |
| Tnrc6b |
G |
C |
15: 80,773,364 (GRCm39) |
|
probably benign |
Het |
| Vti1a |
T |
A |
19: 55,369,364 (GRCm39) |
|
probably null |
Het |
| Zfp273 |
T |
A |
13: 67,973,626 (GRCm39) |
C251* |
probably null |
Het |
| Zfp683 |
C |
A |
4: 133,784,742 (GRCm39) |
Q330K |
probably benign |
Het |
| Zscan4d |
T |
C |
7: 10,896,803 (GRCm39) |
N189S |
probably benign |
Het |
|
| Other mutations in Zfpm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02540:Zfpm1
|
APN |
8 |
123,058,859 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0006:Zfpm1
|
UTSW |
8 |
123,061,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0508:Zfpm1
|
UTSW |
8 |
123,061,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0631:Zfpm1
|
UTSW |
8 |
123,063,613 (GRCm39) |
intron |
probably benign |
|
|
R0729:Zfpm1
|
UTSW |
8 |
123,063,398 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0883:Zfpm1
|
UTSW |
8 |
123,062,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1469:Zfpm1
|
UTSW |
8 |
123,062,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1469:Zfpm1
|
UTSW |
8 |
123,062,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1509:Zfpm1
|
UTSW |
8 |
123,034,285 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1938:Zfpm1
|
UTSW |
8 |
123,061,663 (GRCm39) |
splice site |
probably null |
|
|
R2060:Zfpm1
|
UTSW |
8 |
123,063,331 (GRCm39) |
missense |
probably benign |
0.37 |
|
R3735:Zfpm1
|
UTSW |
8 |
123,050,475 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4528:Zfpm1
|
UTSW |
8 |
123,062,381 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4735:Zfpm1
|
UTSW |
8 |
123,062,219 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4924:Zfpm1
|
UTSW |
8 |
123,061,347 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5347:Zfpm1
|
UTSW |
8 |
123,062,269 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5375:Zfpm1
|
UTSW |
8 |
123,062,812 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5470:Zfpm1
|
UTSW |
8 |
123,060,532 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6358:Zfpm1
|
UTSW |
8 |
123,063,850 (GRCm39) |
intron |
probably benign |
|
|
R6768:Zfpm1
|
UTSW |
8 |
123,061,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6966:Zfpm1
|
UTSW |
8 |
123,058,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7422:Zfpm1
|
UTSW |
8 |
123,063,698 (GRCm39) |
missense |
unknown |
|
|
R7782:Zfpm1
|
UTSW |
8 |
123,063,689 (GRCm39) |
missense |
unknown |
|
|
R8065:Zfpm1
|
UTSW |
8 |
123,062,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8067:Zfpm1
|
UTSW |
8 |
123,062,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8192:Zfpm1
|
UTSW |
8 |
123,058,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8835:Zfpm1
|
UTSW |
8 |
123,063,772 (GRCm39) |
missense |
unknown |
|
|
R9308:Zfpm1
|
UTSW |
8 |
123,034,231 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9342:Zfpm1
|
UTSW |
8 |
123,061,308 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9698:Zfpm1
|
UTSW |
8 |
123,063,868 (GRCm39) |
missense |
unknown |
|
|
R9763:Zfpm1
|
UTSW |
8 |
123,062,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1192:Zfpm1
|
UTSW |
8 |
123,060,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCTGCAGACTGTGACCAAG -3'
(R):5'- CTACTCATTGCAGACGCTCC -3'
Sequencing Primer
(F):5'- GCAGACTGTGACCAAGCCATG -3'
(R):5'- AGACGCTCCCCAGGAAGTC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation