Incidental Mutation 'R6768:Zfpm1'
| ID |
532046 |
| 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 |
044884-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.797)
|
| Stock # |
R6768 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
123008880-123063990 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 123061195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 253
(D253E)
|
| 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 |
probably damaging
Transcript: ENSMUST00000054052
AA Change: D253E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058037
Gene: ENSMUSG00000049577
AA Change: D253E
| 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 |
|
| Meta Mutation Damage Score |
0.2234 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 97.2%
|
| Validation Efficiency |
96% (45/47) |
| 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 |
|---|
| Adam6b |
G |
A |
12: 113,453,863 (GRCm39) |
V227I |
probably benign |
Het |
| Agtrap |
A |
G |
4: 148,166,067 (GRCm39) |
V106A |
probably benign |
Het |
| Aldh3a2 |
A |
C |
11: 61,144,536 (GRCm39) |
S341A |
probably benign |
Het |
| Bmper |
T |
A |
9: 23,292,749 (GRCm39) |
C353S |
probably damaging |
Het |
| Casq1 |
C |
T |
1: 172,047,245 (GRCm39) |
D5N |
probably benign |
Het |
| Ccin |
G |
A |
4: 43,984,574 (GRCm39) |
R327H |
probably benign |
Het |
| Chuk |
A |
G |
19: 44,085,390 (GRCm39) |
V252A |
probably damaging |
Het |
| Colec11 |
T |
C |
12: 28,645,100 (GRCm39) |
|
probably null |
Het |
| Cpeb3 |
G |
A |
19: 37,002,432 (GRCm39) |
T643I |
possibly damaging |
Het |
| Cstpp1 |
A |
T |
2: 91,252,303 (GRCm39) |
H19Q |
probably damaging |
Het |
| Ctcfl |
A |
G |
2: 172,959,084 (GRCm39) |
V214A |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,220,793 (GRCm39) |
E2199G |
probably damaging |
Het |
| Eno2 |
T |
C |
6: 124,744,711 (GRCm39) |
E45G |
probably damaging |
Het |
| Foxa2 |
T |
C |
2: 147,885,747 (GRCm39) |
H181R |
probably damaging |
Het |
| Fpgs |
A |
G |
2: 32,576,635 (GRCm39) |
S331P |
probably benign |
Het |
| Gm47189 |
A |
G |
14: 41,492,035 (GRCm39) |
S81P |
probably benign |
Het |
| Igsf8 |
C |
A |
1: 172,145,099 (GRCm39) |
P142Q |
probably damaging |
Het |
| Islr |
G |
T |
9: 58,064,893 (GRCm39) |
Q205K |
possibly damaging |
Het |
| Josd1 |
A |
G |
15: 79,561,323 (GRCm39) |
W162R |
probably benign |
Het |
| Lrrc37a |
G |
A |
11: 103,390,949 (GRCm39) |
T1492I |
probably benign |
Het |
| Meox1 |
A |
G |
11: 101,770,161 (GRCm39) |
F189L |
probably damaging |
Het |
| Mtf1 |
G |
A |
4: 124,731,578 (GRCm39) |
D385N |
probably benign |
Het |
| Naip2 |
A |
T |
13: 100,314,832 (GRCm39) |
C315* |
probably null |
Het |
| Ncaph2 |
T |
A |
15: 89,248,202 (GRCm39) |
Y166* |
probably null |
Het |
| Nr1i3 |
G |
A |
1: 171,044,966 (GRCm39) |
V270M |
probably damaging |
Het |
| Or11h4b |
A |
G |
14: 50,919,049 (GRCm39) |
L14S |
probably damaging |
Het |
| Or13c7 |
T |
C |
4: 43,854,351 (GRCm39) |
I14T |
probably benign |
Het |
| Panx3 |
T |
C |
9: 37,575,322 (GRCm39) |
K180R |
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
| Reln |
A |
C |
5: 22,183,905 (GRCm39) |
V1698G |
probably damaging |
Het |
| Rnf213 |
G |
T |
11: 119,333,062 (GRCm39) |
R2757L |
probably damaging |
Het |
| Scgb2b26 |
G |
T |
7: 33,644,379 (GRCm39) |
T4K |
probably damaging |
Het |
| Sdhb |
A |
G |
4: 140,706,364 (GRCm39) |
E267G |
probably damaging |
Het |
| Sorbs1 |
A |
T |
19: 40,315,991 (GRCm39) |
N383K |
probably damaging |
Het |
| Stk11ip |
T |
A |
1: 75,509,279 (GRCm39) |
C766S |
probably benign |
Het |
| Taf6l |
A |
C |
19: 8,751,913 (GRCm39) |
S592A |
probably damaging |
Het |
| Tmem145 |
G |
A |
7: 25,008,061 (GRCm39) |
G235D |
probably damaging |
Het |
| Tuba3b |
T |
A |
6: 145,564,455 (GRCm39) |
|
probably null |
Het |
| Ubl7 |
A |
T |
9: 57,820,045 (GRCm39) |
E32D |
probably benign |
Het |
| Vmn1r168 |
A |
T |
7: 23,240,460 (GRCm39) |
T106S |
probably damaging |
Het |
| Vmn2r59 |
C |
A |
7: 41,661,392 (GRCm39) |
V808F |
probably benign |
Het |
| Vmn2r61 |
C |
T |
7: 41,949,748 (GRCm39) |
P723S |
probably damaging |
Het |
| Wwc2 |
A |
G |
8: 48,353,826 (GRCm39) |
Y103H |
possibly damaging |
Het |
| Zfp11 |
G |
T |
5: 129,735,415 (GRCm39) |
D15E |
probably benign |
Het |
| Zfp428 |
G |
A |
7: 24,214,908 (GRCm39) |
G162R |
probably damaging |
Het |
| Zfp629 |
G |
A |
7: 127,209,997 (GRCm39) |
T604I |
probably benign |
Het |
| Zhx1 |
G |
T |
15: 57,917,499 (GRCm39) |
T249K |
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 |
|
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 |
|
|
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'- GTAGGAGCTGAGTCCTCATGTC -3'
(R):5'- TTTCCTGACCACCAGTCCAG -3'
Sequencing Primer
(F):5'- CTGTGCAGGGACAGGAGAATCC -3'
(R):5'- TGACCACCAGTCCAGTGCAG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation