Incidental Mutation 'IGL00326:Zfp354a'
| ID |
4606 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp354a
|
| Ensembl Gene |
ENSMUSG00000020364 |
| Gene Name |
zinc finger protein 354A |
| Synonyms |
Tcf17, kid1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
IGL00326
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
50950084-50963626 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 50960190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 132
(E132K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020628]
[ENSMUST00000102766]
[ENSMUST00000109119]
[ENSMUST00000109122]
|
| AlphaFold |
Q61751 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020628
AA Change: E133K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000020628
Gene: ENSMUSG00000020364
AA Change: E133K
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
8.48e-36 |
SMART |
|
ZnF_C2H2
|
184 |
206 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
212 |
234 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
240 |
262 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
268 |
290 |
1.72e-4 |
SMART |
|
ZnF_C2H2
|
321 |
343 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
349 |
371 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
377 |
399 |
2.79e-4 |
SMART |
|
ZnF_C2H2
|
405 |
427 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
433 |
455 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
461 |
483 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
489 |
511 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
517 |
539 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
545 |
567 |
9.08e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102766
AA Change: E133K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099827
Gene: ENSMUSG00000020364
AA Change: E133K
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
8.48e-36 |
SMART |
|
ZnF_C2H2
|
184 |
206 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
212 |
234 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
240 |
262 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
268 |
290 |
1.72e-4 |
SMART |
|
ZnF_C2H2
|
321 |
343 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
349 |
371 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
377 |
399 |
2.79e-4 |
SMART |
|
ZnF_C2H2
|
405 |
427 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
433 |
455 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
461 |
483 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
489 |
511 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
517 |
539 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
545 |
567 |
9.08e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109119
AA Change: E134K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000104747
Gene: ENSMUSG00000020364
AA Change: E134K
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
75 |
1.67e-34 |
SMART |
|
ZnF_C2H2
|
185 |
207 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
213 |
235 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
241 |
263 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
269 |
291 |
1.72e-4 |
SMART |
|
ZnF_C2H2
|
322 |
344 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
350 |
372 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
378 |
400 |
2.79e-4 |
SMART |
|
ZnF_C2H2
|
406 |
428 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
434 |
456 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
462 |
484 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
490 |
512 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
518 |
540 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
546 |
568 |
9.08e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109122
AA Change: E132K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000104750
Gene: ENSMUSG00000020364
AA Change: E132K
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
73 |
8.48e-36 |
SMART |
|
ZnF_C2H2
|
183 |
205 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
211 |
233 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
239 |
261 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
267 |
289 |
1.72e-4 |
SMART |
|
ZnF_C2H2
|
320 |
342 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
348 |
370 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
376 |
398 |
2.79e-4 |
SMART |
|
ZnF_C2H2
|
404 |
426 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
432 |
454 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
460 |
482 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
488 |
510 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
516 |
538 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
544 |
566 |
9.08e-4 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
G |
T |
4: 62,461,981 (GRCm39) |
|
probably null |
Het |
| 9230109A22Rik |
G |
T |
15: 25,139,201 (GRCm39) |
|
noncoding transcript |
Het |
| Acd |
A |
T |
8: 106,425,086 (GRCm39) |
Y378N |
probably damaging |
Het |
| Adcy9 |
A |
G |
16: 4,112,560 (GRCm39) |
V709A |
probably benign |
Het |
| Axl |
A |
T |
7: 25,485,324 (GRCm39) |
L168H |
probably benign |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Drd3 |
G |
A |
16: 43,582,684 (GRCm39) |
R59H |
probably benign |
Het |
| Erlec1 |
T |
C |
11: 30,898,510 (GRCm39) |
N180S |
possibly damaging |
Het |
| Fnip2 |
G |
T |
3: 79,388,828 (GRCm39) |
S634R |
probably benign |
Het |
| Focad |
A |
T |
4: 88,275,711 (GRCm39) |
T1107S |
unknown |
Het |
| Galnt11 |
T |
C |
5: 25,453,829 (GRCm39) |
|
probably benign |
Het |
| Gigyf1 |
C |
T |
5: 137,517,210 (GRCm39) |
|
probably benign |
Het |
| Gpat2 |
A |
G |
2: 127,274,316 (GRCm39) |
T353A |
probably benign |
Het |
| H2bc3 |
G |
T |
13: 23,931,111 (GRCm39) |
V112L |
possibly damaging |
Het |
| Hip1 |
A |
G |
5: 135,478,676 (GRCm39) |
F178L |
probably damaging |
Het |
| Igkv6-13 |
A |
T |
6: 70,434,645 (GRCm39) |
S67T |
probably damaging |
Het |
| Iqch |
T |
C |
9: 63,387,936 (GRCm39) |
T824A |
probably damaging |
Het |
| Kansl1 |
A |
G |
11: 104,315,292 (GRCm39) |
S249P |
probably damaging |
Het |
| Large1 |
C |
T |
8: 73,858,611 (GRCm39) |
A86T |
probably benign |
Het |
| Lysmd3 |
C |
T |
13: 81,813,363 (GRCm39) |
A77V |
probably damaging |
Het |
| Npr3 |
T |
A |
15: 11,895,780 (GRCm39) |
S289C |
probably damaging |
Het |
| Or52n2 |
A |
T |
7: 104,542,179 (GRCm39) |
S219T |
probably damaging |
Het |
| Or5p57 |
A |
G |
7: 107,665,495 (GRCm39) |
V140A |
probably benign |
Het |
| Pear1 |
C |
T |
3: 87,659,423 (GRCm39) |
V804I |
possibly damaging |
Het |
| Rgs11 |
T |
A |
17: 26,426,371 (GRCm39) |
I230N |
probably damaging |
Het |
| Slc13a3 |
A |
T |
2: 165,315,017 (GRCm39) |
L22Q |
possibly damaging |
Het |
| Slc5a9 |
A |
G |
4: 111,755,766 (GRCm39) |
V44A |
probably damaging |
Het |
| Ttc12 |
G |
T |
9: 49,382,506 (GRCm39) |
|
probably null |
Het |
| Vmn2r2 |
A |
G |
3: 64,041,319 (GRCm39) |
|
probably benign |
Het |
| Zc3h18 |
T |
C |
8: 123,113,591 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Zfp354a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00518:Zfp354a
|
APN |
11 |
50,961,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01872:Zfp354a
|
APN |
11 |
50,960,164 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
P0026:Zfp354a
|
UTSW |
11 |
50,952,325 (GRCm39) |
missense |
probably null |
0.40 |
|
R0063:Zfp354a
|
UTSW |
11 |
50,960,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0063:Zfp354a
|
UTSW |
11 |
50,960,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1013:Zfp354a
|
UTSW |
11 |
50,951,677 (GRCm39) |
splice site |
probably benign |
|
|
R1498:Zfp354a
|
UTSW |
11 |
50,961,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2093:Zfp354a
|
UTSW |
11 |
50,960,551 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4630:Zfp354a
|
UTSW |
11 |
50,961,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4691:Zfp354a
|
UTSW |
11 |
50,961,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5224:Zfp354a
|
UTSW |
11 |
50,960,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5728:Zfp354a
|
UTSW |
11 |
50,961,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6209:Zfp354a
|
UTSW |
11 |
50,951,815 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6831:Zfp354a
|
UTSW |
11 |
50,961,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7206:Zfp354a
|
UTSW |
11 |
50,961,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7617:Zfp354a
|
UTSW |
11 |
50,960,751 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7821:Zfp354a
|
UTSW |
11 |
50,960,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8115:Zfp354a
|
UTSW |
11 |
50,960,490 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8835:Zfp354a
|
UTSW |
11 |
50,960,628 (GRCm39) |
nonsense |
probably null |
|
|
R8884:Zfp354a
|
UTSW |
11 |
50,950,805 (GRCm39) |
start gained |
probably benign |
|
|
R9157:Zfp354a
|
UTSW |
11 |
50,960,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation