Incidental Mutation 'IGL02540:Zfpm1'
| ID |
297685 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfpm1
|
| Ensembl Gene |
ENSMUSG00000049577 |
| Gene Name |
zinc finger protein, multitype 1 |
| Synonyms |
Fog1, Friend of GATA-1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.797)
|
| Stock # |
IGL02540
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
123008880-123063990 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123058859 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 160
(S160G)
|
| 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: S160G
PolyPhen 2
Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000058037
Gene: ENSMUSG00000049577
AA Change: S160G
| 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: ENSMUST00000176690
|
| SMART Domains |
Protein: ENSMUSP00000135092
Gene: ENSMUSG00000049577
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
51 |
71 |
3.13e1 |
SMART |
|
ZnF_C2H2
|
99 |
123 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
129 |
151 |
1.53e-1 |
SMART |
|
ZnF_C2H2
|
157 |
180 |
9.46e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177356
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212315
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adipor2 |
C |
A |
6: 119,336,456 (GRCm39) |
R169L |
probably benign |
Het |
| Arhgap1 |
C |
T |
2: 91,500,584 (GRCm39) |
T371I |
probably damaging |
Het |
| Brpf3 |
C |
T |
17: 29,047,328 (GRCm39) |
P1031S |
probably damaging |
Het |
| Cenpu |
A |
G |
8: 47,031,354 (GRCm39) |
H245R |
probably damaging |
Het |
| Dhx36 |
A |
G |
3: 62,414,309 (GRCm39) |
S18P |
probably benign |
Het |
| Dst |
A |
G |
1: 34,174,285 (GRCm39) |
T217A |
probably damaging |
Het |
| Ecpas |
A |
T |
4: 58,805,534 (GRCm39) |
|
probably benign |
Het |
| Entpd8 |
A |
G |
2: 24,974,731 (GRCm39) |
|
probably null |
Het |
| Fez1 |
A |
G |
9: 36,761,695 (GRCm39) |
R122G |
probably damaging |
Het |
| Heatr5b |
A |
T |
17: 79,081,001 (GRCm39) |
M1417K |
probably damaging |
Het |
| Higd1c |
T |
C |
15: 100,263,247 (GRCm39) |
|
probably benign |
Het |
| Icosl |
G |
A |
10: 77,905,370 (GRCm39) |
|
probably null |
Het |
| Il24 |
T |
C |
1: 130,815,040 (GRCm39) |
|
probably benign |
Het |
| Kank3 |
T |
A |
17: 34,038,161 (GRCm39) |
|
probably benign |
Het |
| Lrriq1 |
A |
G |
10: 103,050,880 (GRCm39) |
L624P |
probably benign |
Het |
| Mov10l1 |
C |
A |
15: 88,902,414 (GRCm39) |
T768K |
probably benign |
Het |
| Or14a258 |
T |
A |
7: 86,035,386 (GRCm39) |
T161S |
possibly damaging |
Het |
| Or5ak25 |
A |
G |
2: 85,269,259 (GRCm39) |
M81T |
probably benign |
Het |
| Or5aq7 |
A |
T |
2: 86,938,386 (GRCm39) |
L115Q |
probably damaging |
Het |
| Pkn2 |
A |
T |
3: 142,515,465 (GRCm39) |
F649I |
probably benign |
Het |
| Pld1 |
A |
G |
3: 28,083,309 (GRCm39) |
|
probably benign |
Het |
| Prrc2c |
G |
A |
1: 162,550,706 (GRCm39) |
S86L |
probably damaging |
Het |
| Rai1 |
G |
A |
11: 60,077,750 (GRCm39) |
A605T |
probably benign |
Het |
| Reln |
T |
A |
5: 22,239,750 (GRCm39) |
Q839L |
probably damaging |
Het |
| Rrp9 |
T |
C |
9: 106,360,746 (GRCm39) |
|
probably benign |
Het |
| Tanc1 |
G |
T |
2: 59,663,602 (GRCm39) |
G1120C |
probably damaging |
Het |
| Tmtc2 |
A |
T |
10: 105,249,200 (GRCm39) |
C178S |
probably benign |
Het |
| Vmn1r172 |
T |
A |
7: 23,359,350 (GRCm39) |
F78L |
probably benign |
Het |
|
| Other mutations in Zfpm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R3736: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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation