Incidental Mutation 'R6022:Zfp438'
ID |
479015 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp438
|
Ensembl Gene |
ENSMUSG00000050945 |
Gene Name |
zinc finger protein 438 |
Synonyms |
9430091M14Rik, B830013J05Rik |
MMRRC Submission |
043256-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R6022 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
5210029-5334807 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 5213419 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 513
(N513I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067049
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063989]
|
AlphaFold |
Q8BFX2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063989
AA Change: N513I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000067049 Gene: ENSMUSG00000050945 AA Change: N513I
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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
G |
11: 9,240,759 (GRCm39) |
F874C |
probably damaging |
Het |
Adam9 |
T |
C |
8: 25,493,321 (GRCm39) |
T96A |
possibly damaging |
Het |
Arhgef26 |
C |
T |
3: 62,336,360 (GRCm39) |
T633M |
probably damaging |
Het |
Atxn2l |
A |
G |
7: 126,095,607 (GRCm39) |
|
probably null |
Het |
AW209491 |
C |
T |
13: 14,812,365 (GRCm39) |
A406V |
probably benign |
Het |
Brix1 |
C |
T |
15: 10,476,675 (GRCm39) |
R267H |
probably benign |
Het |
Caskin1 |
T |
A |
17: 24,715,709 (GRCm39) |
F158I |
probably benign |
Het |
Ces1g |
T |
A |
8: 94,055,085 (GRCm39) |
N204I |
probably damaging |
Het |
Chd1 |
A |
G |
17: 17,598,035 (GRCm39) |
I41V |
probably benign |
Het |
Crybg2 |
A |
T |
4: 133,801,584 (GRCm39) |
K915* |
probably null |
Het |
Dock4 |
T |
C |
12: 40,798,109 (GRCm39) |
V911A |
probably benign |
Het |
Dok5 |
A |
G |
2: 170,721,142 (GRCm39) |
Y302C |
probably damaging |
Het |
Dpysl4 |
A |
T |
7: 138,666,000 (GRCm39) |
|
probably benign |
Het |
Dsc3 |
A |
C |
18: 20,099,395 (GRCm39) |
V707G |
probably damaging |
Het |
Endog |
A |
G |
2: 30,062,921 (GRCm39) |
Y187C |
possibly damaging |
Het |
Fcrl5 |
A |
G |
3: 87,363,070 (GRCm39) |
T526A |
probably benign |
Het |
Gcat |
T |
C |
15: 78,926,478 (GRCm39) |
V116A |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,390,967 (GRCm39) |
D3975G |
probably damaging |
Het |
Jmy |
G |
T |
13: 93,590,086 (GRCm39) |
|
probably null |
Het |
Kif1b |
T |
C |
4: 149,282,989 (GRCm39) |
I1273V |
probably benign |
Het |
Lrriq1 |
G |
T |
10: 103,051,395 (GRCm39) |
N452K |
possibly damaging |
Het |
Lrrn3 |
T |
C |
12: 41,503,429 (GRCm39) |
E296G |
probably damaging |
Het |
Marco |
G |
A |
1: 120,416,294 (GRCm39) |
L208F |
probably benign |
Het |
Mme |
T |
A |
3: 63,272,218 (GRCm39) |
W606R |
probably damaging |
Het |
Parp14 |
G |
A |
16: 35,661,827 (GRCm39) |
P1403S |
probably benign |
Het |
Phc3 |
A |
G |
3: 30,984,174 (GRCm39) |
S647P |
probably damaging |
Het |
Prx |
A |
G |
7: 27,216,998 (GRCm39) |
K500E |
probably damaging |
Het |
Ptpn22 |
T |
A |
3: 103,793,421 (GRCm39) |
V524E |
probably benign |
Het |
Ptprj |
A |
T |
2: 90,301,667 (GRCm39) |
I155K |
probably benign |
Het |
Rad51ap2 |
A |
G |
12: 11,508,523 (GRCm39) |
E815G |
probably damaging |
Het |
Rnf150 |
T |
C |
8: 83,769,358 (GRCm39) |
V381A |
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,376,836 (GRCm39) |
K5103R |
probably benign |
Het |
Speer4a2 |
T |
G |
5: 26,289,677 (GRCm39) |
E250A |
probably benign |
Het |
Tecpr1 |
A |
T |
5: 144,136,009 (GRCm39) |
W961R |
possibly damaging |
Het |
Tnn |
A |
T |
1: 159,937,928 (GRCm39) |
D932E |
probably benign |
Het |
Tram2 |
G |
A |
1: 21,149,361 (GRCm39) |
|
probably benign |
Het |
Trbv26 |
T |
A |
6: 41,204,509 (GRCm39) |
|
probably benign |
Het |
Trmt11 |
A |
G |
10: 30,463,497 (GRCm39) |
I206T |
possibly damaging |
Het |
Ttk |
T |
C |
9: 83,721,375 (GRCm39) |
Y87H |
probably damaging |
Het |
Uri1 |
A |
T |
7: 37,660,902 (GRCm39) |
|
probably benign |
Het |
Vmn1r173 |
A |
G |
7: 23,402,260 (GRCm39) |
D165G |
probably benign |
Het |
Xpc |
A |
G |
6: 91,476,618 (GRCm39) |
S494P |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGATGGCCGAAATAGACTCG -3'
(R):5'- TCTCATACGGCTGTGCTGTC -3'
Sequencing Primer
(F):5'- CTCGGACATGACCAAATACTTTTGC -3'
(R):5'- CAGCAGCCTAGGTCAAGATGTTC -3'
|
Posted On |
2017-06-26 |