Incidental Mutation 'IGL02439:Zfp438'
| ID |
293399 |
| 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 # |
IGL02439
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
5210029-5334807 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 5213216 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 581
(S581C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063989]
|
| AlphaFold |
Q8BFX2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063989
AA Change: S581C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067049
Gene: ENSMUSG00000050945
AA Change: S581C
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610042L04Rik |
A |
T |
14: 4,348,890 (GRCm38) |
Y17F |
probably benign |
Het |
| Ablim2 |
A |
C |
5: 36,015,206 (GRCm39) |
T507P |
possibly damaging |
Het |
| Arhgef28 |
T |
C |
13: 98,067,647 (GRCm39) |
Y1426C |
possibly damaging |
Het |
| Cftr |
T |
A |
6: 18,258,237 (GRCm39) |
Y592* |
probably null |
Het |
| Eogt |
C |
T |
6: 97,120,934 (GRCm39) |
G93D |
possibly damaging |
Het |
| Exosc9 |
A |
G |
3: 36,607,180 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,874,582 (GRCm39) |
I1329V |
probably benign |
Het |
| Gal3st1 |
T |
C |
11: 3,948,110 (GRCm39) |
F106L |
possibly damaging |
Het |
| Gulp1 |
A |
T |
1: 44,820,164 (GRCm39) |
I216F |
probably damaging |
Het |
| Ints13 |
A |
T |
6: 146,455,721 (GRCm39) |
|
probably benign |
Het |
| Kars1 |
G |
A |
8: 112,724,268 (GRCm39) |
T453I |
probably benign |
Het |
| Kif14 |
A |
G |
1: 136,417,999 (GRCm39) |
D844G |
probably damaging |
Het |
| Lgals3bp |
A |
T |
11: 118,289,046 (GRCm39) |
C93S |
probably damaging |
Het |
| Lst1 |
T |
C |
17: 35,405,958 (GRCm39) |
I32V |
probably benign |
Het |
| Malsu1 |
T |
A |
6: 49,052,121 (GRCm39) |
Y114N |
probably damaging |
Het |
| Ndufa5 |
A |
T |
6: 24,519,201 (GRCm39) |
V41E |
probably damaging |
Het |
| Nme6 |
C |
A |
9: 109,670,999 (GRCm39) |
P80T |
probably damaging |
Het |
| Odad2 |
T |
A |
18: 7,268,444 (GRCm39) |
R358S |
probably benign |
Het |
| Or5ac20 |
A |
G |
16: 59,104,818 (GRCm39) |
L14P |
probably damaging |
Het |
| Padi4 |
T |
C |
4: 140,473,532 (GRCm39) |
D635G |
probably damaging |
Het |
| Pcf11 |
C |
T |
7: 92,311,049 (GRCm39) |
S313N |
possibly damaging |
Het |
| Pdik1l |
T |
C |
4: 134,006,015 (GRCm39) |
H309R |
probably benign |
Het |
| Pdk2 |
A |
T |
11: 94,930,323 (GRCm39) |
|
probably benign |
Het |
| Pprc1 |
A |
G |
19: 46,060,758 (GRCm39) |
S1606G |
possibly damaging |
Het |
| Ptch1 |
A |
G |
13: 63,692,910 (GRCm39) |
I230T |
probably damaging |
Het |
| Scn10a |
C |
T |
9: 119,447,914 (GRCm39) |
R1381Q |
probably benign |
Het |
| Sestd1 |
T |
C |
2: 77,027,174 (GRCm39) |
K479E |
possibly damaging |
Het |
| Sez6l2 |
C |
T |
7: 126,567,361 (GRCm39) |
S892L |
probably damaging |
Het |
| Slc39a9 |
G |
T |
12: 80,713,350 (GRCm39) |
A83S |
probably benign |
Het |
| Slc6a6 |
A |
G |
6: 91,726,808 (GRCm39) |
Y483C |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tas2r131 |
A |
G |
6: 132,934,732 (GRCm39) |
S26P |
probably damaging |
Het |
| Timd2 |
A |
G |
11: 46,569,063 (GRCm39) |
|
probably benign |
Het |
| Tmem126a |
T |
C |
7: 90,104,641 (GRCm39) |
E27G |
probably damaging |
Het |
| Tns2 |
G |
A |
15: 102,022,978 (GRCm39) |
G1256E |
probably damaging |
Het |
| Trpv6 |
T |
A |
6: 41,602,421 (GRCm39) |
I322F |
probably damaging |
Het |
| Tshr |
G |
A |
12: 91,504,321 (GRCm39) |
V420M |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,596,431 (GRCm39) |
A20161S |
probably damaging |
Het |
| Vmn2r66 |
A |
T |
7: 84,654,455 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation