Incidental Mutation 'R3872:Zfp788'
ID |
276610 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp788
|
Ensembl Gene |
ENSMUSG00000074165 |
Gene Name |
zinc finger protein 788 |
Synonyms |
2810426N06Rik |
MMRRC Submission |
040790-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R3872 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
41282955-41300305 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 41298868 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 449
(Y449*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132848
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045720]
[ENSMUST00000098508]
[ENSMUST00000100275]
[ENSMUST00000131180]
[ENSMUST00000140964]
[ENSMUST00000154942]
[ENSMUST00000170770]
|
AlphaFold |
E9Q980 |
Predicted Effect |
probably null
Transcript: ENSMUST00000045720
AA Change: Y481*
|
SMART Domains |
Protein: ENSMUSP00000035499 Gene: ENSMUSG00000074165 AA Change: Y481*
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 |
probably null
Transcript: ENSMUST00000098508
AA Change: Y501*
|
SMART Domains |
Protein: ENSMUSP00000096108 Gene: ENSMUSG00000074165 AA Change: Y501*
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 |
probably null
Transcript: ENSMUST00000100275
AA Change: Y449*
|
SMART Domains |
Protein: ENSMUSP00000097847 Gene: ENSMUSG00000074165 AA Change: Y449*
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 |
probably null
Transcript: ENSMUST00000170770
AA Change: Y449*
|
SMART Domains |
Protein: ENSMUSP00000132848 Gene: ENSMUSG00000074165 AA Change: Y449*
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
98% (61/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
T |
C |
11: 119,901,045 (GRCm39) |
E1117G |
possibly damaging |
Het |
Abca5 |
T |
A |
11: 110,201,059 (GRCm39) |
Y447F |
probably damaging |
Het |
Akap12 |
G |
A |
10: 4,307,590 (GRCm39) |
V1467I |
probably benign |
Het |
Baz2a |
T |
A |
10: 127,959,979 (GRCm39) |
M1419K |
probably damaging |
Het |
Bhmt-ps1 |
T |
C |
4: 26,369,201 (GRCm39) |
|
noncoding transcript |
Het |
Cabcoco1 |
T |
C |
10: 68,352,108 (GRCm39) |
Y68C |
probably damaging |
Het |
Car12 |
C |
A |
9: 66,624,834 (GRCm39) |
|
probably benign |
Het |
Cic |
T |
C |
7: 24,971,124 (GRCm39) |
V285A |
possibly damaging |
Het |
Col19a1 |
A |
G |
1: 24,614,408 (GRCm39) |
|
probably benign |
Het |
Col6a4 |
T |
C |
9: 105,890,858 (GRCm39) |
N1812S |
possibly damaging |
Het |
Cry1 |
T |
C |
10: 84,969,024 (GRCm39) |
|
probably null |
Het |
Dlgap4 |
T |
C |
2: 156,591,267 (GRCm39) |
S818P |
probably benign |
Het |
Dlx5 |
G |
T |
6: 6,878,209 (GRCm39) |
P274T |
probably benign |
Het |
Dnah2 |
A |
G |
11: 69,320,174 (GRCm39) |
I3965T |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,411,656 (GRCm39) |
K3675R |
possibly damaging |
Het |
Dpp6 |
A |
G |
5: 27,926,056 (GRCm39) |
Y710C |
probably damaging |
Het |
Dsc3 |
C |
A |
18: 20,104,565 (GRCm39) |
K587N |
probably damaging |
Het |
Eif1ad10 |
T |
C |
12: 88,216,476 (GRCm39) |
D132G |
unknown |
Het |
Epcam |
C |
A |
17: 87,947,354 (GRCm39) |
T36K |
possibly damaging |
Het |
Epha2 |
T |
C |
4: 141,035,716 (GRCm39) |
W51R |
probably damaging |
Het |
Eya4 |
A |
T |
10: 23,031,870 (GRCm39) |
I251N |
probably damaging |
Het |
Fbxo21 |
G |
A |
5: 118,138,394 (GRCm39) |
V447I |
possibly damaging |
Het |
Firrm |
A |
T |
1: 163,814,533 (GRCm39) |
S137T |
probably damaging |
Het |
Frg2f1 |
T |
A |
4: 119,388,155 (GRCm39) |
T115S |
possibly damaging |
Het |
Hecw2 |
A |
T |
1: 53,871,916 (GRCm39) |
|
probably benign |
Het |
Igfals |
G |
A |
17: 25,100,579 (GRCm39) |
V557I |
possibly damaging |
Het |
Iqca1 |
A |
T |
1: 90,017,203 (GRCm39) |
Y411N |
probably damaging |
Het |
Itpa |
T |
G |
2: 130,522,930 (GRCm39) |
S176A |
probably damaging |
Het |
Klhl1 |
A |
G |
14: 96,755,615 (GRCm39) |
F47L |
probably benign |
Het |
Krt26 |
T |
C |
11: 99,225,570 (GRCm39) |
K304E |
probably damaging |
Het |
Krt34 |
T |
C |
11: 99,932,243 (GRCm39) |
H27R |
probably benign |
Het |
Mia3 |
T |
C |
1: 183,138,342 (GRCm39) |
E791G |
probably benign |
Het |
Mroh2b |
A |
T |
15: 4,954,543 (GRCm39) |
K669* |
probably null |
Het |
Msmo1 |
C |
T |
8: 65,175,497 (GRCm39) |
|
probably null |
Het |
Muc6 |
T |
C |
7: 141,226,867 (GRCm39) |
T1387A |
probably benign |
Het |
Myo1g |
C |
T |
11: 6,464,886 (GRCm39) |
V463I |
possibly damaging |
Het |
Or12d12 |
T |
A |
17: 37,610,870 (GRCm39) |
T148S |
probably benign |
Het |
Or4f6 |
T |
C |
2: 111,838,668 (GRCm39) |
T288A |
possibly damaging |
Het |
Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
Or5l13 |
T |
A |
2: 87,779,874 (GRCm39) |
R234S |
probably damaging |
Het |
Pde10a |
C |
A |
17: 8,975,923 (GRCm39) |
T16K |
possibly damaging |
Het |
Pfas |
T |
C |
11: 68,891,089 (GRCm39) |
T310A |
probably damaging |
Het |
Phb2 |
G |
A |
6: 124,693,394 (GRCm39) |
|
probably null |
Het |
Plin3 |
A |
G |
17: 56,591,181 (GRCm39) |
S200P |
probably damaging |
Het |
Plxna1 |
C |
A |
6: 89,309,674 (GRCm39) |
E1087* |
probably null |
Het |
Rnf17 |
G |
T |
14: 56,712,870 (GRCm39) |
R779L |
possibly damaging |
Het |
Sacs |
C |
T |
14: 61,385,517 (GRCm39) |
T6M |
probably benign |
Het |
Scfd1 |
A |
G |
12: 51,438,979 (GRCm39) |
Y147C |
probably damaging |
Het |
Septin1 |
T |
C |
7: 126,814,447 (GRCm39) |
|
probably benign |
Het |
Septin5 |
A |
G |
16: 18,441,723 (GRCm39) |
L344P |
probably damaging |
Het |
Sgsh |
A |
G |
11: 119,241,773 (GRCm39) |
L111P |
probably damaging |
Het |
Slc35f1 |
A |
G |
10: 52,898,006 (GRCm39) |
D139G |
possibly damaging |
Het |
Sod3 |
A |
G |
5: 52,525,631 (GRCm39) |
Y110C |
probably damaging |
Het |
Stk35 |
T |
C |
2: 129,652,495 (GRCm39) |
V332A |
possibly damaging |
Het |
Tacc2 |
C |
T |
7: 130,224,152 (GRCm39) |
T279M |
probably benign |
Het |
Tdo2 |
T |
C |
3: 81,875,393 (GRCm39) |
E187G |
probably benign |
Het |
Tmem150b |
A |
T |
7: 4,727,360 (GRCm39) |
Y48* |
probably null |
Het |
Usp34 |
C |
T |
11: 23,439,033 (GRCm39) |
P3532S |
possibly damaging |
Het |
Vmn2r60 |
C |
T |
7: 41,785,878 (GRCm39) |
S227L |
probably benign |
Het |
Vps33a |
C |
T |
5: 123,669,255 (GRCm39) |
V549I |
probably benign |
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 |
R4126:Zfp788
|
UTSW |
7 |
41,298,860 (GRCm39) |
missense |
probably damaging |
0.97 |
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'- CACAGTTCCCTTCGAGTCCAC -3'
(R):5'- AAGGGACCTCTGGCATATGAAGG -3'
Sequencing Primer
(F):5'- TTCATGAACGAACTCACAGTGGTG -3'
(R):5'- GCATATGAAGGCTTTGCTACAG -3'
|
Posted On |
2015-04-06 |