Incidental Mutation 'R4126:Zfp788'
| ID |
315398 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp788
|
| Ensembl Gene |
ENSMUSG00000074165 |
| Gene Name |
zinc finger protein 788 |
| Synonyms |
2810426N06Rik |
| MMRRC Submission |
041634-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R4126 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
41282955-41300305 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41298860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 479
(F479L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035499
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045720]
[ENSMUST00000098508]
[ENSMUST00000100275]
[ENSMUST00000131180]
[ENSMUST00000140964]
[ENSMUST00000154942]
[ENSMUST00000170770]
|
| AlphaFold |
E9Q980 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045720
AA Change: F479L
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000035499
Gene: ENSMUSG00000074165
AA Change: F479L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
67 |
7.82e-17 |
SMART |
|
ZnF_C2H2
|
218 |
240 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
246 |
268 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
274 |
296 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
302 |
324 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
330 |
352 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
358 |
380 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
386 |
408 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
414 |
436 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
470 |
492 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
498 |
520 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
526 |
548 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
554 |
576 |
1.53e-1 |
SMART |
|
ZnF_C2H2
|
582 |
604 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
610 |
632 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
638 |
660 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
666 |
688 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
694 |
716 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
722 |
744 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
750 |
772 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
778 |
800 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
806 |
828 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
834 |
856 |
5.06e-2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098508
AA Change: F499L
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000096108
Gene: ENSMUSG00000074165
AA Change: F499L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
24 |
87 |
7.82e-17 |
SMART |
|
ZnF_C2H2
|
238 |
260 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
266 |
288 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
294 |
316 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
322 |
344 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
350 |
372 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
378 |
400 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
406 |
428 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
434 |
456 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
462 |
484 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
490 |
512 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
518 |
540 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
546 |
568 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
574 |
596 |
1.53e-1 |
SMART |
|
ZnF_C2H2
|
602 |
624 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
630 |
652 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
658 |
680 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
686 |
708 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
714 |
736 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
742 |
764 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
770 |
792 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
798 |
820 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
826 |
848 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
854 |
876 |
5.06e-2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100275
AA Change: F447L
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000097847
Gene: ENSMUSG00000074165
AA Change: F447L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:KRAB
|
1 |
35 |
1e-16 |
BLAST |
|
ZnF_C2H2
|
186 |
208 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
214 |
236 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
242 |
264 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
270 |
292 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
298 |
320 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
326 |
348 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
354 |
376 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
382 |
404 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
410 |
432 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
438 |
460 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
466 |
488 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
494 |
516 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
522 |
544 |
1.53e-1 |
SMART |
|
ZnF_C2H2
|
550 |
572 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
578 |
600 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
606 |
628 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
634 |
656 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
662 |
684 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
690 |
712 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
718 |
740 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
746 |
768 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
774 |
796 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
802 |
824 |
5.06e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131180
|
| SMART Domains |
Protein: ENSMUSP00000114542
Gene: ENSMUSG00000074165
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
24 |
87 |
7.82e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140964
|
| SMART Domains |
Protein: ENSMUSP00000116050
Gene: ENSMUSG00000074165
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:KRAB
|
1 |
35 |
4e-17 |
BLAST |
|
ZnF_C2H2
|
186 |
208 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
214 |
236 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
242 |
264 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
270 |
292 |
3.16e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154942
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170770
AA Change: F447L
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000132848
Gene: ENSMUSG00000074165
AA Change: F447L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:KRAB
|
1 |
35 |
1e-16 |
BLAST |
|
ZnF_C2H2
|
186 |
208 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
214 |
236 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
242 |
264 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
270 |
292 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
298 |
320 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
326 |
348 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
354 |
376 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
382 |
404 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
410 |
432 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
438 |
460 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
466 |
488 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
494 |
516 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
522 |
544 |
1.53e-1 |
SMART |
|
ZnF_C2H2
|
550 |
572 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
578 |
600 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
606 |
628 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
634 |
656 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
662 |
684 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
690 |
712 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
718 |
740 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
746 |
768 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
774 |
796 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
802 |
824 |
5.06e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.3442 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
89% (33/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
T |
A |
8: 60,984,703 (GRCm39) |
W249R |
probably benign |
Het |
| Ank |
G |
A |
15: 27,590,459 (GRCm39) |
V348I |
probably benign |
Het |
| Atad3a |
A |
T |
4: 155,838,518 (GRCm39) |
|
probably benign |
Het |
| Bbox1 |
A |
G |
2: 110,100,525 (GRCm39) |
V224A |
probably benign |
Het |
| Cdk5rap1 |
A |
G |
2: 154,210,815 (GRCm39) |
C108R |
probably damaging |
Het |
| Cds2 |
A |
G |
2: 132,139,191 (GRCm39) |
T145A |
probably benign |
Het |
| Celsr2 |
G |
T |
3: 108,309,413 (GRCm39) |
A1614D |
possibly damaging |
Het |
| Chd9 |
A |
G |
8: 91,777,912 (GRCm39) |
D2641G |
probably damaging |
Het |
| E2f8 |
T |
C |
7: 48,525,355 (GRCm39) |
I206V |
probably damaging |
Het |
| Glyat |
G |
T |
19: 12,628,843 (GRCm39) |
V213F |
probably benign |
Het |
| Gpatch1 |
C |
T |
7: 34,993,079 (GRCm39) |
|
probably null |
Het |
| Jarid2 |
T |
C |
13: 45,055,732 (GRCm39) |
S313P |
probably damaging |
Het |
| Kcnc1 |
T |
C |
7: 46,047,426 (GRCm39) |
Y109H |
probably damaging |
Het |
| Kif12 |
C |
T |
4: 63,084,674 (GRCm39) |
S548N |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Myrip |
C |
A |
9: 120,293,764 (GRCm39) |
S753* |
probably null |
Het |
| Naalad2 |
T |
C |
9: 18,258,766 (GRCm39) |
Y503C |
probably damaging |
Het |
| Nid1 |
T |
C |
13: 13,650,957 (GRCm39) |
V498A |
probably damaging |
Het |
| Or8k25 |
A |
T |
2: 86,243,568 (GRCm39) |
I276N |
probably damaging |
Het |
| Parp8 |
C |
A |
13: 117,005,005 (GRCm39) |
K685N |
possibly damaging |
Het |
| Prr14l |
G |
T |
5: 32,985,347 (GRCm39) |
H1383N |
probably damaging |
Het |
| Pxn |
A |
G |
5: 115,684,966 (GRCm39) |
R264G |
probably damaging |
Het |
| Slc6a20a |
G |
T |
9: 123,489,598 (GRCm39) |
F148L |
probably damaging |
Het |
| Spag11b |
T |
C |
8: 19,191,395 (GRCm39) |
S23P |
possibly damaging |
Het |
| Stac |
C |
A |
9: 111,433,126 (GRCm39) |
|
probably null |
Het |
| Taf11 |
T |
C |
17: 28,120,746 (GRCm39) |
K175E |
possibly damaging |
Het |
| Tll1 |
T |
C |
8: 64,571,048 (GRCm39) |
R175G |
possibly damaging |
Het |
| Trip11 |
G |
A |
12: 101,861,957 (GRCm39) |
Q203* |
probably null |
Het |
| Usp4 |
T |
C |
9: 108,237,316 (GRCm39) |
V128A |
probably benign |
Het |
| Zmiz1 |
T |
G |
14: 25,657,354 (GRCm39) |
S877A |
possibly damaging |
Het |
|
| Other mutations in Zfp788 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
BB007:Zfp788
|
UTSW |
7 |
41,299,049 (GRCm39) |
nonsense |
probably null |
|
|
BB017:Zfp788
|
UTSW |
7 |
41,299,049 (GRCm39) |
nonsense |
probably null |
|
|
R0207:Zfp788
|
UTSW |
7 |
41,299,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0320:Zfp788
|
UTSW |
7 |
41,298,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0608:Zfp788
|
UTSW |
7 |
41,297,705 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1184:Zfp788
|
UTSW |
7 |
41,297,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1483:Zfp788
|
UTSW |
7 |
41,298,499 (GRCm39) |
nonsense |
probably null |
|
|
R1985:Zfp788
|
UTSW |
7 |
41,299,905 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2030:Zfp788
|
UTSW |
7 |
41,298,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2207:Zfp788
|
UTSW |
7 |
41,299,064 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2313:Zfp788
|
UTSW |
7 |
41,298,312 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3791:Zfp788
|
UTSW |
7 |
41,299,152 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3872:Zfp788
|
UTSW |
7 |
41,298,868 (GRCm39) |
nonsense |
probably null |
|
|
R4579:Zfp788
|
UTSW |
7 |
41,297,018 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4833:Zfp788
|
UTSW |
7 |
41,296,992 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5076:Zfp788
|
UTSW |
7 |
41,298,008 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5175:Zfp788
|
UTSW |
7 |
41,298,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5225:Zfp788
|
UTSW |
7 |
41,298,980 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5364:Zfp788
|
UTSW |
7 |
41,299,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5427:Zfp788
|
UTSW |
7 |
41,299,076 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5484:Zfp788
|
UTSW |
7 |
41,299,277 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5659:Zfp788
|
UTSW |
7 |
41,299,540 (GRCm39) |
nonsense |
probably null |
|
|
R5917:Zfp788
|
UTSW |
7 |
41,298,572 (GRCm39) |
missense |
probably benign |
|
|
R6064:Zfp788
|
UTSW |
7 |
41,297,878 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6128:Zfp788
|
UTSW |
7 |
41,299,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6144:Zfp788
|
UTSW |
7 |
41,299,193 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6182:Zfp788
|
UTSW |
7 |
41,299,940 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6299:Zfp788
|
UTSW |
7 |
41,297,965 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6823:Zfp788
|
UTSW |
7 |
41,298,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6974:Zfp788
|
UTSW |
7 |
41,299,301 (GRCm39) |
nonsense |
probably null |
|
|
R7497:Zfp788
|
UTSW |
7 |
41,298,275 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7930:Zfp788
|
UTSW |
7 |
41,299,049 (GRCm39) |
nonsense |
probably null |
|
|
R7979:Zfp788
|
UTSW |
7 |
41,284,324 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8178:Zfp788
|
UTSW |
7 |
41,298,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8193:Zfp788
|
UTSW |
7 |
41,298,038 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8195:Zfp788
|
UTSW |
7 |
41,298,801 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8699:Zfp788
|
UTSW |
7 |
41,297,840 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8964:Zfp788
|
UTSW |
7 |
41,297,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9037:Zfp788
|
UTSW |
7 |
41,298,315 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9122:Zfp788
|
UTSW |
7 |
41,299,919 (GRCm39) |
nonsense |
probably null |
|
|
R9133:Zfp788
|
UTSW |
7 |
41,299,484 (GRCm39) |
missense |
|
|
|
R9256:Zfp788
|
UTSW |
7 |
41,299,638 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9372:Zfp788
|
UTSW |
7 |
41,299,708 (GRCm39) |
nonsense |
probably null |
|
|
R9570:Zfp788
|
UTSW |
7 |
41,300,006 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACAGTTCCCTTCGAGTCC -3'
(R):5'- AGGGACCTCTGGCATATGAAGG -3'
Sequencing Primer
(F):5'- TTCATGAACGAACTCACAGTGGTG -3'
(R):5'- GCATATGAAGGCTTTGCTACAG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation