Incidental Mutation 'IGL00923:Zfp354c'
| ID |
28524 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp354c
|
| Ensembl Gene |
ENSMUSG00000044807 |
| Gene Name |
zinc finger protein 354C |
| Synonyms |
5330421P20Rik, Kid3, AJ18 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
IGL00923
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
50701913-50718551 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 50706440 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 212
(Y212N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104763
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000632]
[ENSMUST00000109135]
|
| AlphaFold |
Q571J5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000632
AA Change: Y212N
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000000632
Gene: ENSMUSG00000044807
AA Change: Y212N
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
9.98e-33 |
SMART |
|
ZnF_C2H2
|
218 |
240 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
246 |
268 |
3.74e-5 |
SMART |
|
ZnF_C2H2
|
274 |
296 |
1.72e-4 |
SMART |
|
ZnF_C2H2
|
302 |
324 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
330 |
352 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
358 |
380 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
386 |
408 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
414 |
436 |
5.67e-5 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
470 |
492 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
498 |
520 |
3.39e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109135
AA Change: Y212N
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104763
Gene: ENSMUSG00000044807
AA Change: Y212N
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
9.98e-33 |
SMART |
|
ZnF_C2H2
|
218 |
240 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
246 |
268 |
3.74e-5 |
SMART |
|
ZnF_C2H2
|
274 |
296 |
1.72e-4 |
SMART |
|
ZnF_C2H2
|
302 |
324 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
330 |
352 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
358 |
380 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
386 |
408 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
414 |
436 |
5.67e-5 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
470 |
492 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
498 |
520 |
3.39e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139465
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
T |
A |
5: 89,832,235 (GRCm39) |
E956V |
probably benign |
Het |
| Adcy2 |
C |
T |
13: 68,768,915 (GRCm39) |
G1071E |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,530,410 (GRCm39) |
V5888D |
probably damaging |
Het |
| Arhgef12 |
G |
A |
9: 42,931,920 (GRCm39) |
T189I |
probably damaging |
Het |
| Cp |
T |
C |
3: 20,024,165 (GRCm39) |
L335P |
probably damaging |
Het |
| Cwf19l1 |
A |
G |
19: 44,119,849 (GRCm39) |
|
probably null |
Het |
| Dgki |
A |
T |
6: 36,839,391 (GRCm39) |
N933K |
probably benign |
Het |
| Dixdc1 |
G |
T |
9: 50,579,033 (GRCm39) |
A660D |
probably damaging |
Het |
| Dnajc9 |
T |
C |
14: 20,435,515 (GRCm39) |
D232G |
probably benign |
Het |
| Dock9 |
A |
G |
14: 121,844,504 (GRCm39) |
|
probably benign |
Het |
| Elp6 |
A |
T |
9: 110,139,193 (GRCm39) |
T29S |
probably damaging |
Het |
| Fam8a1 |
T |
C |
13: 46,827,147 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
A |
T |
18: 58,145,397 (GRCm39) |
D2746E |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Mtss1 |
G |
T |
15: 58,815,348 (GRCm39) |
N737K |
possibly damaging |
Het |
| Nbas |
T |
C |
12: 13,386,285 (GRCm39) |
V737A |
possibly damaging |
Het |
| Ndrg1 |
A |
T |
15: 66,814,959 (GRCm39) |
N164K |
probably damaging |
Het |
| Nrtn |
A |
G |
17: 57,059,447 (GRCm39) |
S11P |
probably damaging |
Het |
| Or4c11c |
T |
G |
2: 88,661,456 (GRCm39) |
|
probably null |
Het |
| Or4f62 |
T |
A |
2: 111,987,122 (GRCm39) |
D275E |
possibly damaging |
Het |
| Rab10 |
T |
A |
12: 3,303,334 (GRCm39) |
M118L |
probably benign |
Het |
| Slc11a2 |
A |
G |
15: 100,295,669 (GRCm39) |
V175A |
probably benign |
Het |
| Tex21 |
T |
A |
12: 76,291,885 (GRCm39) |
D12V |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,731,272 (GRCm39) |
|
probably benign |
Het |
| Vmn1r215 |
G |
A |
13: 23,260,419 (GRCm39) |
G153D |
probably damaging |
Het |
| Zc3h4 |
A |
G |
7: 16,163,617 (GRCm39) |
D612G |
unknown |
Het |
| Zmiz2 |
T |
A |
11: 6,352,845 (GRCm39) |
M631K |
probably damaging |
Het |
|
| Other mutations in Zfp354c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01615:Zfp354c
|
APN |
11 |
50,708,732 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03019:Zfp354c
|
APN |
11 |
50,708,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0546:Zfp354c
|
UTSW |
11 |
50,706,457 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1370:Zfp354c
|
UTSW |
11 |
50,706,667 (GRCm39) |
missense |
probably benign |
|
|
R2109:Zfp354c
|
UTSW |
11 |
50,707,969 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2850:Zfp354c
|
UTSW |
11 |
50,706,158 (GRCm39) |
nonsense |
probably null |
|
|
R4010:Zfp354c
|
UTSW |
11 |
50,705,771 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5034:Zfp354c
|
UTSW |
11 |
50,705,866 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5430:Zfp354c
|
UTSW |
11 |
50,706,022 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5439:Zfp354c
|
UTSW |
11 |
50,706,597 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5905:Zfp354c
|
UTSW |
11 |
50,706,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6244:Zfp354c
|
UTSW |
11 |
50,705,798 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6264:Zfp354c
|
UTSW |
11 |
50,706,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6591:Zfp354c
|
UTSW |
11 |
50,705,602 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6650:Zfp354c
|
UTSW |
11 |
50,705,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6691:Zfp354c
|
UTSW |
11 |
50,705,602 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7087:Zfp354c
|
UTSW |
11 |
50,706,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7313:Zfp354c
|
UTSW |
11 |
50,705,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7467:Zfp354c
|
UTSW |
11 |
50,706,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7619:Zfp354c
|
UTSW |
11 |
50,708,635 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7699:Zfp354c
|
UTSW |
11 |
50,706,067 (GRCm39) |
small deletion |
probably benign |
|
|
R7710:Zfp354c
|
UTSW |
11 |
50,706,067 (GRCm39) |
small deletion |
probably benign |
|
|
R7712:Zfp354c
|
UTSW |
11 |
50,706,067 (GRCm39) |
small deletion |
probably benign |
|
|
R7747:Zfp354c
|
UTSW |
11 |
50,706,067 (GRCm39) |
small deletion |
probably benign |
|
|
R7748:Zfp354c
|
UTSW |
11 |
50,706,067 (GRCm39) |
small deletion |
probably benign |
|
|
R7784:Zfp354c
|
UTSW |
11 |
50,706,067 (GRCm39) |
small deletion |
probably benign |
|
|
R7816:Zfp354c
|
UTSW |
11 |
50,706,067 (GRCm39) |
small deletion |
probably benign |
|
|
R7817:Zfp354c
|
UTSW |
11 |
50,706,067 (GRCm39) |
small deletion |
probably benign |
|
|
R7853:Zfp354c
|
UTSW |
11 |
50,706,067 (GRCm39) |
small deletion |
probably benign |
|
|
R7855:Zfp354c
|
UTSW |
11 |
50,706,067 (GRCm39) |
small deletion |
probably benign |
|
|
R7870:Zfp354c
|
UTSW |
11 |
50,706,065 (GRCm39) |
small deletion |
probably benign |
|
|
R8852:Zfp354c
|
UTSW |
11 |
50,706,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8860:Zfp354c
|
UTSW |
11 |
50,706,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8862:Zfp354c
|
UTSW |
11 |
50,708,718 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9169:Zfp354c
|
UTSW |
11 |
50,706,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9215:Zfp354c
|
UTSW |
11 |
50,706,666 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9273:Zfp354c
|
UTSW |
11 |
50,706,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9762:Zfp354c
|
UTSW |
11 |
50,706,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation