Incidental Mutation 'IGL02003:Zfp438'
| ID |
182198 |
| 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: 0.103)
|
| Stock # |
IGL02003
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
5210029-5334807 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 5214503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 152
(C152S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063989]
|
| AlphaFold |
Q8BFX2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063989
AA Change: C152S
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000067049
Gene: ENSMUSG00000050945
AA Change: C152S
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449E01Rik |
A |
G |
14: 105,736,392 (GRCm39) |
|
noncoding transcript |
Het |
| Adam1b |
G |
A |
5: 121,639,354 (GRCm39) |
L564F |
probably damaging |
Het |
| Alms1 |
C |
T |
6: 85,599,205 (GRCm39) |
P1344S |
possibly damaging |
Het |
| Cnnm2 |
G |
T |
19: 46,856,998 (GRCm39) |
G699W |
probably damaging |
Het |
| Crybg2 |
A |
G |
4: 133,799,767 (GRCm39) |
K309R |
probably benign |
Het |
| Csnk2a1 |
C |
T |
2: 152,118,890 (GRCm39) |
R333* |
probably null |
Het |
| Eif3m |
C |
T |
2: 104,843,188 (GRCm39) |
|
probably benign |
Het |
| Fgfr2 |
T |
C |
7: 129,820,802 (GRCm39) |
D244G |
probably damaging |
Het |
| H2-Q10 |
A |
G |
17: 35,781,338 (GRCm39) |
I47V |
probably benign |
Het |
| Hmcn2 |
C |
T |
2: 31,318,994 (GRCm39) |
T3898I |
possibly damaging |
Het |
| Isyna1 |
G |
A |
8: 71,049,407 (GRCm39) |
V440M |
possibly damaging |
Het |
| Itpr3 |
A |
G |
17: 27,340,449 (GRCm39) |
K2654E |
probably damaging |
Het |
| Lrrd1 |
C |
T |
5: 3,899,857 (GRCm39) |
T54I |
probably damaging |
Het |
| Lrrk2 |
G |
A |
15: 91,615,694 (GRCm39) |
V843M |
probably damaging |
Het |
| Morc2b |
A |
T |
17: 33,357,298 (GRCm39) |
V158D |
probably benign |
Het |
| Mroh7 |
T |
C |
4: 106,559,726 (GRCm39) |
T734A |
probably damaging |
Het |
| Mylk3 |
T |
C |
8: 86,085,727 (GRCm39) |
D136G |
probably benign |
Het |
| Nos1 |
T |
C |
5: 118,043,530 (GRCm39) |
S602P |
probably damaging |
Het |
| Nsmaf |
T |
C |
4: 6,418,522 (GRCm39) |
I428V |
probably benign |
Het |
| Nup93 |
T |
G |
8: 95,028,737 (GRCm39) |
Y323* |
probably null |
Het |
| Or5ac21 |
G |
A |
16: 59,123,996 (GRCm39) |
G161D |
probably damaging |
Het |
| Or7g21 |
A |
T |
9: 19,032,361 (GRCm39) |
M34L |
probably benign |
Het |
| Or8b50 |
C |
T |
9: 38,518,136 (GRCm39) |
A125V |
probably damaging |
Het |
| Ppm1m |
C |
A |
9: 106,076,356 (GRCm39) |
G13W |
probably damaging |
Het |
| Prok1 |
T |
G |
3: 107,142,979 (GRCm39) |
H75P |
probably damaging |
Het |
| Ptprb |
A |
T |
10: 116,203,410 (GRCm39) |
I1774F |
probably damaging |
Het |
| Rasl10b |
A |
T |
11: 83,308,679 (GRCm39) |
E73V |
probably damaging |
Het |
| Rhbdl3 |
A |
G |
11: 80,228,342 (GRCm39) |
T271A |
possibly damaging |
Het |
| Serpina3a |
A |
G |
12: 104,082,259 (GRCm39) |
M11V |
probably benign |
Het |
| Setdb2 |
T |
C |
14: 59,650,939 (GRCm39) |
E464G |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,735,625 (GRCm39) |
I749T |
possibly damaging |
Het |
| Slco6d1 |
T |
A |
1: 98,408,493 (GRCm39) |
I463N |
probably damaging |
Het |
| Sncb |
A |
T |
13: 54,910,743 (GRCm39) |
V51E |
probably damaging |
Het |
| Stk32c |
A |
G |
7: 138,768,069 (GRCm39) |
S71P |
possibly damaging |
Het |
| Tet1 |
A |
G |
10: 62,652,179 (GRCm39) |
V1613A |
possibly damaging |
Het |
| Vmn2r91 |
T |
A |
17: 18,327,921 (GRCm39) |
I505K |
probably benign |
Het |
| Zfp110 |
A |
T |
7: 12,583,832 (GRCm39) |
K827* |
probably null |
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 |
|
IGL01967:Zfp438
|
APN |
18 |
5,214,049 (GRCm39) |
missense |
probably benign |
0.00 |
|
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