Incidental Mutation 'P0026:Zfp354a'
| ID |
8038 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp354a
|
| Ensembl Gene |
ENSMUSG00000020364 |
| Gene Name |
zinc finger protein 354A |
| Synonyms |
Tcf17, kid1 |
| MMRRC Submission |
038279-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
P0026 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
50950084-50963626 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 50952325 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 85
(G85R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020628]
[ENSMUST00000102766]
[ENSMUST00000109119]
[ENSMUST00000109122]
|
| AlphaFold |
Q61751 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020628
AA Change: G86R
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000020628
Gene: ENSMUSG00000020364
AA Change: G86R
| 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 null
Transcript: ENSMUST00000102766
AA Change: G86R
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099827
Gene: ENSMUSG00000020364
AA Change: G86R
| 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 null
Transcript: ENSMUST00000109119
AA Change: G87R
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000104747
Gene: ENSMUSG00000020364
AA Change: G87R
| 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 null
Transcript: ENSMUST00000109122
AA Change: G85R
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000104750
Gene: ENSMUSG00000020364
AA Change: G85R
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156914
|
| Meta Mutation Damage Score |
0.0999 |
| Coding Region Coverage |
- 1x: 85.6%
- 3x: 78.9%
- 10x: 59.5%
- 20x: 38.1%
|
| Validation Efficiency |
97% (63/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi2 |
A |
G |
1: 60,492,882 (GRCm39) |
N182D |
probably benign |
Het |
| Acad10 |
T |
C |
5: 121,775,415 (GRCm39) |
Y429C |
probably damaging |
Het |
| Aifm3 |
A |
T |
16: 17,324,981 (GRCm39) |
|
probably benign |
Het |
| Bud13 |
A |
G |
9: 46,199,656 (GRCm39) |
H339R |
probably benign |
Het |
| Cpa1 |
T |
A |
6: 30,640,905 (GRCm39) |
M132K |
probably damaging |
Het |
| Dapk1 |
T |
A |
13: 60,865,963 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,407,612 (GRCm39) |
N2073K |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,355,773 (GRCm39) |
N2227K |
probably damaging |
Het |
| Dnpep |
C |
T |
1: 75,285,329 (GRCm39) |
V468I |
probably benign |
Het |
| Elf3 |
A |
G |
1: 135,183,711 (GRCm39) |
|
probably null |
Het |
| Fam124a |
T |
G |
14: 62,843,571 (GRCm39) |
L360V |
probably damaging |
Het |
| Fam20a |
A |
T |
11: 109,566,667 (GRCm39) |
|
probably null |
Het |
| Fermt3 |
A |
G |
19: 6,991,792 (GRCm39) |
S140P |
probably damaging |
Het |
| Gm10440 |
T |
C |
5: 54,513,511 (GRCm39) |
|
noncoding transcript |
Het |
| Il12rb1 |
A |
G |
8: 71,265,185 (GRCm39) |
D167G |
probably damaging |
Het |
| Ints8 |
T |
A |
4: 11,225,788 (GRCm39) |
K590* |
probably null |
Het |
| Kcnu1 |
T |
C |
8: 26,382,150 (GRCm39) |
F500S |
probably damaging |
Het |
| Mrm3 |
T |
C |
11: 76,138,326 (GRCm39) |
V238A |
probably damaging |
Het |
| Rap1gap2 |
A |
G |
11: 74,458,036 (GRCm39) |
|
probably benign |
Het |
| Rusc2 |
T |
A |
4: 43,415,840 (GRCm39) |
V382E |
possibly damaging |
Het |
| Slc9a5 |
A |
G |
8: 106,081,923 (GRCm39) |
N216S |
probably damaging |
Het |
| Snx7 |
A |
T |
3: 117,633,672 (GRCm39) |
F63I |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 75,926,994 (GRCm39) |
|
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,523,734 (GRCm39) |
Y1751H |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,824,931 (GRCm39) |
P366S |
probably damaging |
Het |
| Trim17 |
A |
G |
11: 58,862,084 (GRCm39) |
D372G |
possibly damaging |
Het |
|
| Other mutations in Zfp354a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00326:Zfp354a
|
APN |
11 |
50,960,190 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
2012-11-20 |
Incidental Mutation