Incidental Mutation 'IGL01967:Zfp438'
| ID |
181569 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp438
|
| Ensembl Gene |
ENSMUSG00000050945 |
| Gene Name |
zinc finger protein 438 |
| Synonyms |
9430091M14Rik, B830013J05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
IGL01967
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
5210029-5334807 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5214049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 303
(E303G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063989]
|
| AlphaFold |
Q8BFX2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063989
AA Change: E303G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000067049
Gene: ENSMUSG00000050945
AA Change: E303G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
132 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
263 |
274 |
N/A |
INTRINSIC |
|
low complexity region
|
427 |
439 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
493 |
515 |
5.72e-1 |
SMART |
|
ZnF_C2H2
|
521 |
543 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
553 |
576 |
5.2e0 |
SMART |
|
ZnF_C2H2
|
635 |
658 |
1.86e1 |
SMART |
|
ZnF_C2H2
|
746 |
769 |
1.13e1 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
G |
12: 118,831,707 (GRCm39) |
L1215P |
probably damaging |
Het |
| Abce1 |
T |
C |
8: 80,412,620 (GRCm39) |
D569G |
probably damaging |
Het |
| Adnp |
A |
G |
2: 168,025,339 (GRCm39) |
V652A |
possibly damaging |
Het |
| Bco2 |
A |
G |
9: 50,446,809 (GRCm39) |
I448T |
probably damaging |
Het |
| Cdh20 |
T |
A |
1: 104,868,762 (GRCm39) |
H84Q |
probably damaging |
Het |
| Cep126 |
A |
G |
9: 8,095,209 (GRCm39) |
|
probably null |
Het |
| Clca4b |
A |
G |
3: 144,633,951 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,202,649 (GRCm39) |
N142Y |
probably damaging |
Het |
| Gnaq |
C |
T |
19: 16,355,524 (GRCm39) |
R247C |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,874,896 (GRCm39) |
E282V |
probably damaging |
Het |
| Klf3 |
T |
C |
5: 64,979,430 (GRCm39) |
S91P |
probably damaging |
Het |
| Lmtk2 |
C |
A |
5: 144,119,597 (GRCm39) |
H1353N |
probably benign |
Het |
| Magi1 |
G |
T |
6: 93,685,115 (GRCm39) |
H526Q |
probably damaging |
Het |
| Mecr |
A |
G |
4: 131,589,192 (GRCm39) |
|
probably null |
Het |
| Mllt6 |
T |
C |
11: 97,565,603 (GRCm39) |
F630L |
probably damaging |
Het |
| Nav1 |
T |
C |
1: 135,464,983 (GRCm39) |
N274S |
probably damaging |
Het |
| Nmi |
T |
C |
2: 51,846,052 (GRCm39) |
|
probably null |
Het |
| Or7e170 |
A |
G |
9: 19,794,885 (GRCm39) |
S239P |
probably damaging |
Het |
| Perm1 |
G |
T |
4: 156,302,118 (GRCm39) |
G221W |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,303,524 (GRCm39) |
N1681K |
possibly damaging |
Het |
| Ptch2 |
T |
C |
4: 116,971,430 (GRCm39) |
|
probably benign |
Het |
| Sc5d |
A |
T |
9: 42,169,930 (GRCm39) |
L97Q |
possibly damaging |
Het |
| Scaf8 |
T |
A |
17: 3,247,213 (GRCm39) |
N845K |
possibly damaging |
Het |
| Sema7a |
A |
G |
9: 57,863,678 (GRCm39) |
K284E |
probably damaging |
Het |
| Slc16a3 |
G |
A |
11: 120,847,864 (GRCm39) |
V351M |
probably damaging |
Het |
| Strn3 |
A |
G |
12: 51,699,596 (GRCm39) |
I192T |
probably damaging |
Het |
| Syne2 |
A |
C |
12: 75,988,077 (GRCm39) |
D1745A |
probably damaging |
Het |
| Ttc13 |
T |
C |
8: 125,439,386 (GRCm39) |
T123A |
probably damaging |
Het |
| Zbtb18 |
T |
A |
1: 177,275,348 (GRCm39) |
V236D |
probably benign |
Het |
| Zfp644 |
T |
C |
5: 106,786,109 (GRCm39) |
Q146R |
probably damaging |
Het |
| Zfp972 |
A |
T |
2: 177,563,495 (GRCm39) |
N38K |
probably damaging |
Het |
|
| Other mutations in Zfp438 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01907:Zfp438
|
APN |
18 |
5,213,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02003:Zfp438
|
APN |
18 |
5,214,503 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02305:Zfp438
|
APN |
18 |
5,213,674 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02439:Zfp438
|
APN |
18 |
5,213,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02744:Zfp438
|
APN |
18 |
5,214,760 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02836:Zfp438
|
APN |
18 |
5,245,427 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0308:Zfp438
|
UTSW |
18 |
5,213,638 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0437:Zfp438
|
UTSW |
18 |
5,214,910 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1540:Zfp438
|
UTSW |
18 |
5,210,740 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1594:Zfp438
|
UTSW |
18 |
5,213,515 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1804:Zfp438
|
UTSW |
18 |
5,213,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2057:Zfp438
|
UTSW |
18 |
5,214,085 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2256:Zfp438
|
UTSW |
18 |
5,213,508 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4549:Zfp438
|
UTSW |
18 |
5,214,073 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4747:Zfp438
|
UTSW |
18 |
5,214,403 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4858:Zfp438
|
UTSW |
18 |
5,213,154 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4887:Zfp438
|
UTSW |
18 |
5,213,776 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5543:Zfp438
|
UTSW |
18 |
5,213,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5646:Zfp438
|
UTSW |
18 |
5,214,526 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6022:Zfp438
|
UTSW |
18 |
5,213,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6058:Zfp438
|
UTSW |
18 |
5,213,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6460:Zfp438
|
UTSW |
18 |
5,213,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6703:Zfp438
|
UTSW |
18 |
5,214,044 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6766:Zfp438
|
UTSW |
18 |
5,213,780 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7252:Zfp438
|
UTSW |
18 |
5,214,874 (GRCm39) |
nonsense |
probably null |
|
|
R7283:Zfp438
|
UTSW |
18 |
5,214,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7429:Zfp438
|
UTSW |
18 |
5,214,139 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7769:Zfp438
|
UTSW |
18 |
5,213,377 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8139:Zfp438
|
UTSW |
18 |
5,214,013 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8291:Zfp438
|
UTSW |
18 |
5,211,010 (GRCm39) |
nonsense |
probably null |
|
|
R8802:Zfp438
|
UTSW |
18 |
5,213,417 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8819:Zfp438
|
UTSW |
18 |
5,213,383 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8922:Zfp438
|
UTSW |
18 |
5,213,422 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9224:Zfp438
|
UTSW |
18 |
5,210,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9416:Zfp438
|
UTSW |
18 |
5,214,054 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9442:Zfp438
|
UTSW |
18 |
5,214,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9529:Zfp438
|
UTSW |
18 |
5,213,501 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
| Posted On |
2014-05-07 |
Incidental Mutation