Incidental Mutation 'R5427:Zfp788'
ID |
426952 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp788
|
Ensembl Gene |
ENSMUSG00000074165 |
Gene Name |
zinc finger protein 788 |
Synonyms |
2810426N06Rik |
MMRRC Submission |
042993-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R5427 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
41282955-41300305 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 41299076 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 571
(V571I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096108
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045720]
[ENSMUST00000098508]
[ENSMUST00000100275]
[ENSMUST00000131180]
[ENSMUST00000140964]
[ENSMUST00000154942]
[ENSMUST00000170770]
|
AlphaFold |
E9Q980 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045720
AA Change: V551I
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000035499 Gene: ENSMUSG00000074165 AA Change: V551I
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: V571I
PolyPhen 2
Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000096108 Gene: ENSMUSG00000074165 AA Change: V571I
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: V519I
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000097847 Gene: ENSMUSG00000074165 AA Change: V519I
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: V519I
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000132848 Gene: ENSMUSG00000074165 AA Change: V519I
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
97% (58/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aaas |
A |
G |
15: 102,248,385 (GRCm39) |
V277A |
possibly damaging |
Het |
Adcy7 |
G |
A |
8: 89,052,829 (GRCm39) |
|
probably null |
Het |
Adgrg5 |
A |
T |
8: 95,661,730 (GRCm39) |
D157V |
probably benign |
Het |
Akap13 |
A |
G |
7: 75,378,617 (GRCm39) |
N2090S |
possibly damaging |
Het |
Alpi |
T |
C |
1: 87,029,076 (GRCm39) |
N33D |
probably benign |
Het |
Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
Ankrd34a |
G |
A |
3: 96,504,837 (GRCm39) |
G14R |
probably damaging |
Het |
Anp32a |
A |
G |
9: 62,284,598 (GRCm39) |
|
probably benign |
Het |
Atg4b |
G |
C |
1: 93,702,928 (GRCm39) |
K86N |
probably damaging |
Het |
Bbx |
T |
C |
16: 50,100,860 (GRCm39) |
T12A |
probably benign |
Het |
Catsperg2 |
T |
C |
7: 29,414,275 (GRCm39) |
T377A |
possibly damaging |
Het |
Ccdc158 |
T |
C |
5: 92,796,821 (GRCm39) |
Q505R |
probably damaging |
Het |
Cep135 |
T |
A |
5: 76,786,049 (GRCm39) |
S1051T |
probably benign |
Het |
Cryab |
A |
G |
9: 50,667,593 (GRCm39) |
D109G |
probably damaging |
Het |
Crym |
A |
C |
7: 119,798,445 (GRCm39) |
|
probably benign |
Het |
Csf2rb2 |
T |
A |
15: 78,173,111 (GRCm39) |
S250C |
probably damaging |
Het |
Diaph1 |
A |
T |
18: 38,023,648 (GRCm39) |
V730E |
unknown |
Het |
Eci3 |
G |
T |
13: 35,143,931 (GRCm39) |
L65M |
possibly damaging |
Het |
Erg28 |
T |
C |
12: 85,866,341 (GRCm39) |
N46D |
probably damaging |
Het |
Fam89b |
A |
G |
19: 5,778,819 (GRCm39) |
S127P |
probably benign |
Het |
Fign |
A |
G |
2: 63,809,342 (GRCm39) |
Y643H |
probably damaging |
Het |
Galk2 |
T |
C |
2: 125,788,741 (GRCm39) |
V265A |
probably benign |
Het |
Gclm |
T |
C |
3: 122,059,976 (GRCm39) |
V252A |
probably damaging |
Het |
Git2 |
A |
G |
5: 114,868,389 (GRCm39) |
S584P |
possibly damaging |
Het |
Iqcf3 |
T |
C |
9: 106,421,059 (GRCm39) |
|
probably null |
Het |
Kcnk3 |
A |
G |
5: 30,779,639 (GRCm39) |
T230A |
possibly damaging |
Het |
Mettl25b |
T |
C |
3: 87,831,639 (GRCm39) |
|
probably benign |
Het |
Myh10 |
T |
C |
11: 68,693,757 (GRCm39) |
L1486P |
probably damaging |
Het |
Myom2 |
C |
A |
8: 15,163,764 (GRCm39) |
A1006E |
probably benign |
Het |
Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
Nampt |
A |
T |
12: 32,884,914 (GRCm39) |
H111L |
probably benign |
Het |
Nid1 |
A |
G |
13: 13,658,268 (GRCm39) |
Y671C |
probably damaging |
Het |
Npy5r |
G |
A |
8: 67,133,672 (GRCm39) |
R374C |
probably damaging |
Het |
Or10ag54 |
A |
T |
2: 87,099,858 (GRCm39) |
K244N |
probably benign |
Het |
Or5b123 |
A |
T |
19: 13,596,714 (GRCm39) |
S20C |
probably benign |
Het |
Palld |
C |
T |
8: 62,003,106 (GRCm39) |
C720Y |
probably benign |
Het |
Pcsk6 |
C |
T |
7: 65,683,647 (GRCm39) |
T606M |
probably benign |
Het |
Pfas |
T |
C |
11: 68,891,979 (GRCm39) |
I176M |
possibly damaging |
Het |
Pi4kb |
A |
G |
3: 94,901,518 (GRCm39) |
D395G |
probably benign |
Het |
Plod3 |
A |
T |
5: 137,020,642 (GRCm39) |
Y547F |
probably damaging |
Het |
Plscr1l1 |
G |
A |
9: 92,234,649 (GRCm39) |
C128Y |
probably benign |
Het |
Pnpo |
T |
C |
11: 96,834,633 (GRCm39) |
Y21C |
probably benign |
Het |
Rgs1 |
A |
T |
1: 144,122,018 (GRCm39) |
C118* |
probably null |
Het |
Slc22a27 |
A |
G |
19: 7,856,753 (GRCm39) |
|
probably null |
Het |
Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
Sppl2c |
G |
A |
11: 104,078,693 (GRCm39) |
V498I |
probably benign |
Het |
Stim2 |
A |
T |
5: 54,268,281 (GRCm39) |
I448F |
possibly damaging |
Het |
Sulf1 |
A |
T |
1: 12,867,136 (GRCm39) |
T107S |
possibly damaging |
Het |
Tenm3 |
A |
G |
8: 48,689,599 (GRCm39) |
V1996A |
probably damaging |
Het |
Timm23 |
G |
A |
14: 31,911,103 (GRCm39) |
T171I |
possibly damaging |
Het |
Tssk2 |
A |
G |
16: 17,716,729 (GRCm39) |
D44G |
probably damaging |
Het |
Vmn2r28 |
A |
T |
7: 5,489,376 (GRCm39) |
Y488N |
probably damaging |
Het |
Zbed6 |
A |
G |
1: 133,585,333 (GRCm39) |
V668A |
possibly damaging |
Het |
Zbtb48 |
A |
G |
4: 152,105,108 (GRCm39) |
F518S |
probably damaging |
Het |
Zfp709 |
A |
G |
8: 72,642,976 (GRCm39) |
E135G |
probably benign |
Het |
Zfp963 |
A |
G |
8: 70,196,106 (GRCm39) |
S116P |
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 |
R3872:Zfp788
|
UTSW |
7 |
41,298,868 (GRCm39) |
nonsense |
probably null |
|
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 |
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'- GTGGGAAAGCGTTCAGGCG -3'
(R):5'- AGGACCTGTCACACTGTTTAC -3'
Sequencing Primer
(F):5'- GATTTGCAGCAAAGCCTTCG -3'
(R):5'- CATTCATAGAGGTTTTTCCCAGTG -3'
|
Posted On |
2016-09-01 |