Incidental Mutation 'IGL01907:Zfp438'
ID |
179693 |
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 # |
IGL01907
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
5210029-5334807 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 5213815 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 381
(A381V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067049
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063989]
|
AlphaFold |
Q8BFX2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063989
AA Change: A381V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000067049 Gene: ENSMUSG00000050945 AA Change: A381V
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap1g1 |
T |
C |
8: 110,569,975 (GRCm39) |
|
probably benign |
Het |
Asph |
A |
T |
4: 9,514,643 (GRCm39) |
D491E |
possibly damaging |
Het |
Cyrib |
A |
G |
15: 63,803,535 (GRCm39) |
|
probably benign |
Het |
D930020B18Rik |
A |
G |
10: 121,477,915 (GRCm39) |
N47D |
probably damaging |
Het |
Gad1 |
T |
C |
2: 70,404,470 (GRCm39) |
V120A |
possibly damaging |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm10717 |
A |
T |
9: 3,026,287 (GRCm39) |
Y195F |
probably damaging |
Het |
Grin2b |
T |
G |
6: 135,710,738 (GRCm39) |
E936A |
probably damaging |
Het |
Iars1 |
T |
C |
13: 49,863,131 (GRCm39) |
F528L |
probably damaging |
Het |
Iyd |
C |
T |
10: 3,490,407 (GRCm39) |
P38S |
probably damaging |
Het |
Krt24 |
A |
G |
11: 99,176,030 (GRCm39) |
F2L |
unknown |
Het |
Mnat1 |
T |
A |
12: 73,319,213 (GRCm39) |
S279T |
probably benign |
Het |
Mptx1 |
A |
T |
1: 174,160,212 (GRCm39) |
I173L |
probably benign |
Het |
Or9g20 |
T |
A |
2: 85,629,946 (GRCm39) |
T223S |
probably benign |
Het |
Per1 |
T |
C |
11: 68,996,425 (GRCm39) |
S810P |
probably benign |
Het |
Racgap1 |
T |
A |
15: 99,524,214 (GRCm39) |
K398* |
probably null |
Het |
Rnf133 |
T |
C |
6: 23,649,303 (GRCm39) |
N209D |
probably benign |
Het |
Rp1 |
T |
C |
1: 4,418,730 (GRCm39) |
E794G |
possibly damaging |
Het |
Ryr3 |
A |
T |
2: 112,699,346 (GRCm39) |
|
probably benign |
Het |
Slc27a2 |
A |
G |
2: 126,429,794 (GRCm39) |
T465A |
probably benign |
Het |
Smarca2 |
T |
C |
19: 26,675,865 (GRCm39) |
M1035T |
possibly damaging |
Het |
Spink5 |
A |
G |
18: 44,129,743 (GRCm39) |
N445D |
probably damaging |
Het |
Stard3nl |
G |
A |
13: 19,556,759 (GRCm39) |
A127V |
probably damaging |
Het |
Trim69 |
C |
T |
2: 121,998,142 (GRCm39) |
T38M |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Zfp438 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01967:Zfp438
|
APN |
18 |
5,214,049 (GRCm39) |
missense |
probably benign |
0.00 |
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 |