Incidental Mutation 'R0320:Zfp788'
ID |
38286 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp788
|
Ensembl Gene |
ENSMUSG00000074165 |
Gene Name |
zinc finger protein 788 |
Synonyms |
2810426N06Rik |
MMRRC Submission |
038530-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R0320 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
41282955-41300305 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 41298971 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 536
(H536Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096108
(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: H516Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000035499 Gene: ENSMUSG00000074165 AA Change: H516Y
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 damaging
Transcript: ENSMUST00000098508
AA Change: H536Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000096108 Gene: ENSMUSG00000074165 AA Change: H536Y
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 damaging
Transcript: ENSMUST00000100275
AA Change: H484Y
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000097847 Gene: ENSMUSG00000074165 AA Change: H484Y
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 damaging
Transcript: ENSMUST00000170770
AA Change: H484Y
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000132848 Gene: ENSMUSG00000074165 AA Change: H484Y
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 |
0.3741 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
Validation Efficiency |
100% (71/71) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
C |
14: 32,384,571 (GRCm39) |
T465A |
probably benign |
Het |
A430110L20Rik |
T |
G |
1: 181,054,987 (GRCm39) |
|
noncoding transcript |
Het |
Aadacl4fm1 |
A |
T |
4: 144,248,990 (GRCm39) |
H119L |
probably damaging |
Het |
Abcb10 |
C |
T |
8: 124,689,746 (GRCm39) |
R439Q |
probably benign |
Het |
Abcb8 |
T |
C |
5: 24,605,788 (GRCm39) |
S199P |
probably damaging |
Het |
Adam8 |
C |
A |
7: 139,566,355 (GRCm39) |
C556F |
probably damaging |
Het |
Akap11 |
T |
C |
14: 78,750,819 (GRCm39) |
T523A |
probably benign |
Het |
Aldh3b1 |
T |
C |
19: 3,968,999 (GRCm39) |
|
probably benign |
Het |
Arhgap30 |
T |
A |
1: 171,231,372 (GRCm39) |
W230R |
possibly damaging |
Het |
Atp8b4 |
A |
G |
2: 126,301,614 (GRCm39) |
I82T |
possibly damaging |
Het |
Bptf |
A |
T |
11: 106,963,645 (GRCm39) |
L1850I |
probably damaging |
Het |
C4b |
C |
A |
17: 34,952,135 (GRCm39) |
V1237L |
probably benign |
Het |
Calu |
C |
A |
6: 29,374,550 (GRCm39) |
|
probably benign |
Het |
Cit |
C |
A |
5: 116,117,504 (GRCm39) |
L1227M |
possibly damaging |
Het |
Col4a1 |
C |
T |
8: 11,292,782 (GRCm39) |
|
probably null |
Het |
Cp |
T |
C |
3: 20,029,012 (GRCm39) |
|
probably benign |
Het |
Cpd |
T |
C |
11: 76,731,273 (GRCm39) |
D311G |
possibly damaging |
Het |
Ctc1 |
T |
A |
11: 68,924,363 (GRCm39) |
S972T |
probably damaging |
Het |
Dnah17 |
A |
G |
11: 117,943,500 (GRCm39) |
F3201L |
possibly damaging |
Het |
Dop1b |
C |
A |
16: 93,607,035 (GRCm39) |
R2113S |
probably benign |
Het |
Dym |
T |
A |
18: 75,332,333 (GRCm39) |
D520E |
probably damaging |
Het |
Eif5a |
G |
T |
11: 69,808,305 (GRCm39) |
T64K |
probably benign |
Het |
Flt3 |
A |
T |
5: 147,306,389 (GRCm39) |
|
probably benign |
Het |
Ints6 |
A |
T |
14: 62,945,084 (GRCm39) |
Y415* |
probably null |
Het |
Itga1 |
A |
G |
13: 115,114,130 (GRCm39) |
|
probably benign |
Het |
Itgae |
A |
G |
11: 73,021,825 (GRCm39) |
H902R |
possibly damaging |
Het |
Itprid1 |
T |
C |
6: 55,953,432 (GRCm39) |
I916T |
probably damaging |
Het |
Kdm5a |
T |
C |
6: 120,366,581 (GRCm39) |
I406T |
probably benign |
Het |
Lmx1a |
C |
T |
1: 167,618,973 (GRCm39) |
Q111* |
probably null |
Het |
Lrrc25 |
T |
C |
8: 71,070,896 (GRCm39) |
Y226H |
probably benign |
Het |
Mcam |
T |
A |
9: 44,051,483 (GRCm39) |
N447K |
possibly damaging |
Het |
Mcm10 |
A |
T |
2: 5,008,897 (GRCm39) |
D357E |
probably benign |
Het |
Nrip1 |
T |
C |
16: 76,089,251 (GRCm39) |
T769A |
probably benign |
Het |
Ofcc1 |
G |
C |
13: 40,360,172 (GRCm39) |
Q286E |
probably benign |
Het |
Or1e23 |
T |
G |
11: 73,407,750 (GRCm39) |
I92L |
probably damaging |
Het |
Or56b35 |
A |
T |
7: 104,963,861 (GRCm39) |
I217F |
probably benign |
Het |
Parp3 |
T |
A |
9: 106,353,011 (GRCm39) |
N55I |
possibly damaging |
Het |
Parp4 |
T |
C |
14: 56,825,953 (GRCm39) |
|
probably null |
Het |
Pilrb1 |
G |
A |
5: 137,853,260 (GRCm39) |
T181I |
probably benign |
Het |
Ppm1n |
A |
G |
7: 19,012,281 (GRCm39) |
V317A |
probably damaging |
Het |
Prdm2 |
A |
T |
4: 142,905,921 (GRCm39) |
F55L |
probably damaging |
Het |
Psd2 |
C |
T |
18: 36,112,697 (GRCm39) |
R131C |
probably damaging |
Het |
Ralgps1 |
A |
T |
2: 33,031,027 (GRCm39) |
C570S |
possibly damaging |
Het |
Scaf8 |
T |
C |
17: 3,228,530 (GRCm39) |
S443P |
unknown |
Het |
Setd5 |
A |
G |
6: 113,088,442 (GRCm39) |
K190R |
probably damaging |
Het |
Spsb4 |
T |
A |
9: 96,878,161 (GRCm39) |
H54L |
probably damaging |
Het |
St7l |
T |
A |
3: 104,778,229 (GRCm39) |
L122* |
probably null |
Het |
Stom |
C |
T |
2: 35,211,646 (GRCm39) |
R125H |
probably damaging |
Het |
Tigd4 |
T |
A |
3: 84,502,481 (GRCm39) |
V466E |
probably benign |
Het |
Tmc3 |
A |
C |
7: 83,257,027 (GRCm39) |
|
probably benign |
Het |
Vcl |
C |
T |
14: 21,035,692 (GRCm39) |
|
probably benign |
Het |
Vmn1r168 |
G |
A |
7: 23,240,767 (GRCm39) |
R208H |
probably benign |
Het |
Vmn2r75 |
C |
A |
7: 85,814,288 (GRCm39) |
V402L |
probably benign |
Het |
Vps13b |
A |
T |
15: 35,674,974 (GRCm39) |
H1698L |
probably damaging |
Het |
Wnt16 |
T |
G |
6: 22,297,992 (GRCm39) |
V286G |
possibly damaging |
Het |
Xirp1 |
C |
A |
9: 119,845,533 (GRCm39) |
V1117L |
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 |
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 |
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 |
|
Posted On |
2013-05-23 |