Incidental Mutation 'IGL03153:Zfp446'
ID |
411153 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfp446
|
Ensembl Gene |
ENSMUSG00000033961 |
Gene Name |
zinc finger protein 446 |
Synonyms |
A630035I11Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
IGL03153
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
12711726-12718323 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 12711834 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 19
(A19E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039073
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038701]
[ENSMUST00000045810]
[ENSMUST00000108535]
[ENSMUST00000108536]
[ENSMUST00000108537]
[ENSMUST00000124387]
[ENSMUST00000128293]
|
AlphaFold |
Q8C9M8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038701
|
SMART Domains |
Protein: ENSMUSP00000041944 Gene: ENSMUSG00000004500
Domain | Start | End | E-Value | Type |
KRAB
|
31 |
91 |
8.89e-30 |
SMART |
ZnF_C2H2
|
291 |
313 |
2.95e-3 |
SMART |
ZnF_C2H2
|
319 |
341 |
1.82e-3 |
SMART |
ZnF_C2H2
|
347 |
369 |
6.88e-4 |
SMART |
ZnF_C2H2
|
375 |
397 |
1.95e-3 |
SMART |
ZnF_C2H2
|
403 |
425 |
2.71e-2 |
SMART |
ZnF_C2H2
|
431 |
453 |
2.95e-3 |
SMART |
ZnF_C2H2
|
459 |
481 |
2.75e-3 |
SMART |
ZnF_C2H2
|
487 |
509 |
1.25e-1 |
SMART |
ZnF_C2H2
|
515 |
537 |
7.37e-4 |
SMART |
low complexity region
|
564 |
579 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000045810
AA Change: A19E
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000039073 Gene: ENSMUSG00000033961 AA Change: A19E
Domain | Start | End | E-Value | Type |
low complexity region
|
67 |
79 |
N/A |
INTRINSIC |
SCAN
|
122 |
234 |
1.29e-53 |
SMART |
KRAB
|
299 |
360 |
3.96e-2 |
SMART |
ZnF_C2H2
|
419 |
441 |
2.95e-3 |
SMART |
ZnF_C2H2
|
468 |
490 |
8.47e-4 |
SMART |
ZnF_C2H2
|
496 |
518 |
5.34e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108535
|
SMART Domains |
Protein: ENSMUSP00000104175 Gene: ENSMUSG00000033961
Domain | Start | End | E-Value | Type |
SCAN
|
22 |
134 |
1.29e-53 |
SMART |
KRAB
|
199 |
254 |
1.14e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108536
|
SMART Domains |
Protein: ENSMUSP00000104176 Gene: ENSMUSG00000033961
Domain | Start | End | E-Value | Type |
SCAN
|
22 |
134 |
1.29e-53 |
SMART |
KRAB
|
199 |
260 |
3.96e-2 |
SMART |
ZnF_C2H2
|
319 |
341 |
2.95e-3 |
SMART |
ZnF_C2H2
|
368 |
390 |
8.47e-4 |
SMART |
ZnF_C2H2
|
396 |
418 |
5.34e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108537
|
SMART Domains |
Protein: ENSMUSP00000104177 Gene: ENSMUSG00000033961
Domain | Start | End | E-Value | Type |
SCAN
|
22 |
128 |
7.37e-49 |
SMART |
KRAB
|
124 |
185 |
3.96e-2 |
SMART |
ZnF_C2H2
|
244 |
266 |
2.95e-3 |
SMART |
ZnF_C2H2
|
293 |
315 |
8.47e-4 |
SMART |
ZnF_C2H2
|
321 |
343 |
5.34e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124387
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128293
|
SMART Domains |
Protein: ENSMUSP00000124620 Gene: ENSMUSG00000004500
Domain | Start | End | E-Value | Type |
KRAB
|
31 |
75 |
3.83e-11 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128427
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147996
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933430I17Rik |
A |
G |
4: 62,465,563 (GRCm39) |
E419G |
possibly damaging |
Het |
Abcg3 |
A |
G |
5: 105,122,631 (GRCm39) |
|
probably benign |
Het |
Adam17 |
T |
C |
12: 21,395,698 (GRCm39) |
D256G |
probably damaging |
Het |
Adgrb3 |
G |
A |
1: 25,570,978 (GRCm39) |
R500* |
probably null |
Het |
Aldh3a2 |
A |
G |
11: 61,149,665 (GRCm39) |
Y234H |
probably damaging |
Het |
Alpk3 |
A |
G |
7: 80,743,143 (GRCm39) |
T987A |
probably benign |
Het |
Amtn |
A |
G |
5: 88,532,828 (GRCm39) |
K148E |
possibly damaging |
Het |
Asap1 |
G |
A |
15: 64,032,123 (GRCm39) |
T237M |
probably damaging |
Het |
Ccdc124 |
A |
T |
8: 71,321,573 (GRCm39) |
|
probably null |
Het |
Cdon |
T |
C |
9: 35,389,255 (GRCm39) |
Y787H |
probably damaging |
Het |
Cimip4 |
T |
C |
15: 78,269,516 (GRCm39) |
D188G |
probably damaging |
Het |
Coro7 |
A |
G |
16: 4,453,246 (GRCm39) |
|
probably null |
Het |
Dram2 |
T |
A |
3: 106,462,490 (GRCm39) |
|
probably benign |
Het |
Drd5 |
T |
C |
5: 38,477,124 (GRCm39) |
V39A |
probably benign |
Het |
Ern1 |
A |
G |
11: 106,300,924 (GRCm39) |
L490P |
possibly damaging |
Het |
Fat1 |
A |
G |
8: 45,483,160 (GRCm39) |
T3083A |
possibly damaging |
Het |
Irgm1 |
A |
G |
11: 48,757,094 (GRCm39) |
I239T |
probably damaging |
Het |
Klhl10 |
A |
T |
11: 100,347,758 (GRCm39) |
T605S |
probably benign |
Het |
Lcor |
T |
A |
19: 41,546,795 (GRCm39) |
S126R |
probably damaging |
Het |
Lgi4 |
G |
T |
7: 30,759,983 (GRCm39) |
V60F |
probably damaging |
Het |
Lin37 |
G |
A |
7: 30,256,585 (GRCm39) |
R84W |
probably damaging |
Het |
Lmf1 |
A |
G |
17: 25,804,624 (GRCm39) |
S97G |
possibly damaging |
Het |
Oasl2 |
A |
G |
5: 115,039,393 (GRCm39) |
T194A |
probably benign |
Het |
Or5ac17 |
A |
G |
16: 59,036,566 (GRCm39) |
S137P |
probably benign |
Het |
Pnpo |
A |
T |
11: 96,834,661 (GRCm39) |
F12I |
probably damaging |
Het |
Prdm4 |
T |
C |
10: 85,743,860 (GRCm39) |
T132A |
probably benign |
Het |
Ptbp2 |
T |
C |
3: 119,545,593 (GRCm39) |
T118A |
probably benign |
Het |
Ptf1a |
T |
A |
2: 19,451,456 (GRCm39) |
|
probably benign |
Het |
Rev3l |
T |
A |
10: 39,682,874 (GRCm39) |
F331I |
probably damaging |
Het |
Rfx6 |
C |
A |
10: 51,599,217 (GRCm39) |
S524* |
probably null |
Het |
Scube3 |
A |
G |
17: 28,386,032 (GRCm39) |
S758G |
possibly damaging |
Het |
Slc44a2 |
T |
C |
9: 21,254,496 (GRCm39) |
I257T |
probably benign |
Het |
Spon1 |
A |
T |
7: 113,629,579 (GRCm39) |
I408F |
probably damaging |
Het |
Srpk1 |
C |
A |
17: 28,811,240 (GRCm39) |
D541Y |
possibly damaging |
Het |
Tenm4 |
A |
T |
7: 96,522,969 (GRCm39) |
I1467F |
probably damaging |
Het |
Uggt1 |
A |
C |
1: 36,241,899 (GRCm39) |
V345G |
possibly damaging |
Het |
Vmn1r23 |
A |
T |
6: 57,902,917 (GRCm39) |
I287K |
probably damaging |
Het |
Whamm |
A |
G |
7: 81,239,280 (GRCm39) |
|
probably benign |
Het |
Zeb1 |
A |
G |
18: 5,770,511 (GRCm39) |
D888G |
probably damaging |
Het |
Zfp263 |
A |
G |
16: 3,564,744 (GRCm39) |
N253S |
possibly damaging |
Het |
|
Other mutations in Zfp446 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01486:Zfp446
|
APN |
7 |
12,713,307 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01534:Zfp446
|
APN |
7 |
12,713,493 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02471:Zfp446
|
APN |
7 |
12,716,181 (GRCm39) |
missense |
probably benign |
0.41 |
IGL02888:Zfp446
|
APN |
7 |
12,713,255 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03185:Zfp446
|
APN |
7 |
12,712,925 (GRCm39) |
missense |
probably null |
0.43 |
IGL03242:Zfp446
|
APN |
7 |
12,713,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R0538:Zfp446
|
UTSW |
7 |
12,713,516 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1809:Zfp446
|
UTSW |
7 |
12,713,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R3686:Zfp446
|
UTSW |
7 |
12,716,580 (GRCm39) |
missense |
probably damaging |
0.97 |
R3701:Zfp446
|
UTSW |
7 |
12,712,079 (GRCm39) |
unclassified |
probably benign |
|
R5256:Zfp446
|
UTSW |
7 |
12,713,231 (GRCm39) |
nonsense |
probably null |
|
R5363:Zfp446
|
UTSW |
7 |
12,711,984 (GRCm39) |
missense |
probably benign |
0.20 |
R5377:Zfp446
|
UTSW |
7 |
12,716,178 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6806:Zfp446
|
UTSW |
7 |
12,713,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R7167:Zfp446
|
UTSW |
7 |
12,712,049 (GRCm39) |
unclassified |
probably benign |
|
R7988:Zfp446
|
UTSW |
7 |
12,712,970 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8288:Zfp446
|
UTSW |
7 |
12,711,885 (GRCm39) |
missense |
probably benign |
0.00 |
R8487:Zfp446
|
UTSW |
7 |
12,716,555 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8943:Zfp446
|
UTSW |
7 |
12,713,564 (GRCm39) |
nonsense |
probably null |
|
R9315:Zfp446
|
UTSW |
7 |
12,713,397 (GRCm39) |
missense |
probably benign |
0.28 |
Z1177:Zfp446
|
UTSW |
7 |
12,712,093 (GRCm39) |
unclassified |
probably benign |
|
|
Posted On |
2016-08-02 |