Incidental Mutation 'R7617:Zfp354a'
| ID |
588967 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp354a
|
| Ensembl Gene |
ENSMUSG00000020364 |
| Gene Name |
zinc finger protein 354A |
| Synonyms |
Tcf17, kid1 |
| MMRRC Submission |
045684-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R7617 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
50950084-50963626 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 50960751 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 320
(T320A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099827
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020628]
[ENSMUST00000102766]
[ENSMUST00000109119]
[ENSMUST00000109122]
|
| AlphaFold |
Q61751 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020628
AA Change: T320A
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000020628
Gene: ENSMUSG00000020364
AA Change: T320A
| 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: T320A
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000099827
Gene: ENSMUSG00000020364
AA Change: T320A
| 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: T321A
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000104747
Gene: ENSMUSG00000020364
AA Change: T321A
| 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: T319A
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000104750
Gene: ENSMUSG00000020364
AA Change: T319A
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
G |
7: 120,102,694 (GRCm39) |
Y864* |
probably null |
Het |
| Abhd2 |
T |
C |
7: 78,998,032 (GRCm39) |
M188T |
probably benign |
Het |
| Adamtsl3 |
T |
A |
7: 82,206,054 (GRCm39) |
|
probably null |
Het |
| Ankrd36 |
G |
T |
11: 5,637,348 (GRCm39) |
V1306L |
probably benign |
Het |
| Ankrd50 |
C |
A |
3: 38,538,831 (GRCm39) |
|
probably benign |
Het |
| Btbd2 |
T |
C |
10: 80,482,226 (GRCm39) |
D258G |
probably damaging |
Het |
| Cabin1 |
C |
T |
10: 75,568,277 (GRCm39) |
R75K |
possibly damaging |
Het |
| Carmil3 |
A |
G |
14: 55,735,348 (GRCm39) |
N507S |
probably benign |
Het |
| Cntn1 |
A |
G |
15: 92,143,970 (GRCm39) |
E311G |
probably damaging |
Het |
| Csnk1a1 |
T |
C |
18: 61,718,387 (GRCm39) |
M371T |
unknown |
Het |
| Dnah1 |
A |
T |
14: 31,006,739 (GRCm39) |
V2192E |
possibly damaging |
Het |
| Entrep3 |
T |
A |
3: 89,092,278 (GRCm39) |
I199N |
probably damaging |
Het |
| Grip2 |
A |
C |
6: 91,742,031 (GRCm39) |
|
probably null |
Het |
| Gxylt2 |
G |
T |
6: 100,760,146 (GRCm39) |
W227L |
probably damaging |
Het |
| Ighv6-5 |
G |
T |
12: 114,380,626 (GRCm39) |
|
probably benign |
Het |
| Jak1 |
T |
A |
4: 101,031,408 (GRCm39) |
|
probably null |
Het |
| Jakmip1 |
A |
G |
5: 37,328,345 (GRCm39) |
D393G |
possibly damaging |
Het |
| Klf10 |
A |
T |
15: 38,297,080 (GRCm39) |
V320E |
probably damaging |
Het |
| Krt87 |
A |
T |
15: 101,336,426 (GRCm39) |
C76S |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,106,701 (GRCm39) |
D1261G |
possibly damaging |
Het |
| Myo18b |
A |
C |
5: 112,905,319 (GRCm39) |
|
probably null |
Het |
| Or4c124 |
T |
A |
2: 89,155,723 (GRCm39) |
D267V |
probably damaging |
Het |
| Oxct2a |
A |
C |
4: 123,217,150 (GRCm39) |
L77R |
probably damaging |
Het |
| P2rx2 |
A |
T |
5: 110,489,950 (GRCm39) |
C172S |
probably damaging |
Het |
| P3h3 |
A |
G |
6: 124,832,969 (GRCm39) |
Y195H |
probably damaging |
Het |
| Pex11b |
T |
C |
3: 96,544,107 (GRCm39) |
|
probably null |
Het |
| Ppm1j |
T |
A |
3: 104,691,059 (GRCm39) |
Y274* |
probably null |
Het |
| Scn9a |
A |
T |
2: 66,370,893 (GRCm39) |
D562E |
possibly damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,203,156 (GRCm39) |
V557A |
probably benign |
Het |
| Slc9b2 |
T |
C |
3: 135,042,221 (GRCm39) |
I500T |
probably damaging |
Het |
| Sult2a3 |
C |
T |
7: 13,806,981 (GRCm39) |
V234I |
probably benign |
Het |
| Tcp10c |
T |
G |
17: 13,576,100 (GRCm39) |
L27V |
probably damaging |
Het |
| Tktl2 |
A |
G |
8: 66,965,651 (GRCm39) |
D403G |
probably benign |
Het |
| Tmprss13 |
G |
A |
9: 45,244,858 (GRCm39) |
W212* |
probably null |
Het |
| Tspoap1 |
T |
G |
11: 87,654,451 (GRCm39) |
S244A |
probably benign |
Het |
| Upb1 |
A |
C |
10: 75,260,368 (GRCm39) |
T136P |
probably benign |
Het |
| Wdr25 |
G |
A |
12: 108,958,819 (GRCm39) |
G344S |
possibly damaging |
Het |
| Wwp1 |
T |
C |
4: 19,662,188 (GRCm39) |
T136A |
probably benign |
Het |
| Zfyve16 |
A |
G |
13: 92,641,070 (GRCm39) |
Y1225H |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAAGCCTTTAGCCAAAGTTCAG -3'
(R):5'- AGCTGAACTTTGACCAAATGACATC -3'
Sequencing Primer
(F):5'- CTCATACTGGAGAGAAGCCTTATG -3'
(R):5'- ATGGAAGTGAAGCCTTTCCC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation