Incidental Mutation 'R3791:Zfp788'
| ID |
272530 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp788
|
| Ensembl Gene |
ENSMUSG00000074165 |
| Gene Name |
zinc finger protein 788 |
| Synonyms |
2810426N06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R3791 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
41282955-41300305 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 41299152 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 596
(H596L)
|
| 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 benign
Transcript: ENSMUST00000045720
AA Change: H576L
PolyPhen 2
Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000035499
Gene: ENSMUSG00000074165
AA Change: H576L
| 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: H596L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000096108
Gene: ENSMUSG00000074165
AA Change: H596L
| 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: H544L
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000097847
Gene: ENSMUSG00000074165
AA Change: H544L
| 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: H544L
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000132848
Gene: ENSMUSG00000074165
AA Change: H544L
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630073D07Rik |
AGGTGGTGGTGGTGGTGGTGGTGG |
AGGTGGTGGTGGTGGTGGTGG |
6: 132,603,479 (GRCm39) |
|
probably benign |
Het |
| A930009A15Rik |
A |
T |
10: 115,414,194 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,741,221 (GRCm39) |
Y81C |
probably damaging |
Het |
| Alx3 |
A |
T |
3: 107,508,022 (GRCm39) |
Y177F |
probably damaging |
Het |
| C6 |
A |
G |
15: 4,764,717 (GRCm39) |
T138A |
probably benign |
Het |
| Cacna2d3 |
T |
C |
14: 28,905,538 (GRCm39) |
M410V |
probably benign |
Het |
| Ccn4 |
A |
G |
15: 66,791,137 (GRCm39) |
Y313C |
probably damaging |
Het |
| Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
| Cnrip1 |
C |
T |
11: 17,004,845 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
A |
C |
9: 105,741,868 (GRCm39) |
D2350E |
probably damaging |
Het |
| Cyp4a12b |
A |
G |
4: 115,292,167 (GRCm39) |
I407V |
probably benign |
Het |
| Gpx4 |
A |
G |
10: 79,892,023 (GRCm39) |
I245V |
probably benign |
Het |
| H2-K2 |
A |
G |
17: 34,218,499 (GRCm39) |
I139T |
probably benign |
Het |
| Hmgcl |
A |
G |
4: 135,687,298 (GRCm39) |
K191R |
probably benign |
Het |
| Hpdl |
A |
G |
4: 116,677,729 (GRCm39) |
V244A |
possibly damaging |
Het |
| Hpse |
A |
G |
5: 100,840,104 (GRCm39) |
S338P |
probably damaging |
Het |
| Ifi203 |
T |
C |
1: 173,762,646 (GRCm39) |
K162R |
possibly damaging |
Het |
| Kit |
A |
G |
5: 75,799,810 (GRCm39) |
N514S |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,742,030 (GRCm39) |
|
probably benign |
Het |
| Limd1 |
T |
A |
9: 123,309,439 (GRCm39) |
S379R |
possibly damaging |
Het |
| Llph |
A |
G |
10: 120,064,060 (GRCm39) |
K59E |
probably benign |
Het |
| Lrrc7 |
T |
A |
3: 157,869,593 (GRCm39) |
M709L |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,352,238 (GRCm39) |
S665G |
probably benign |
Het |
| Ncapd3 |
C |
T |
9: 26,963,931 (GRCm39) |
H524Y |
probably benign |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Or51s1 |
T |
C |
7: 102,558,239 (GRCm39) |
D269G |
probably benign |
Het |
| Phtf2 |
T |
C |
5: 20,987,296 (GRCm39) |
E400G |
probably damaging |
Het |
| Pkd1l3 |
T |
C |
8: 110,362,949 (GRCm39) |
V1080A |
probably damaging |
Het |
| Plch1 |
A |
T |
3: 63,606,944 (GRCm39) |
H1007Q |
probably benign |
Het |
| Prr5 |
T |
C |
15: 84,565,417 (GRCm39) |
S3P |
probably damaging |
Het |
| Qtrt1 |
G |
A |
9: 21,330,636 (GRCm39) |
D279N |
probably damaging |
Het |
| Rundc1 |
G |
A |
11: 101,325,027 (GRCm39) |
A578T |
probably damaging |
Het |
| Shc4 |
A |
T |
2: 125,565,251 (GRCm39) |
V16E |
probably damaging |
Het |
| Sik3 |
A |
T |
9: 46,106,120 (GRCm39) |
L329F |
possibly damaging |
Het |
| Slc36a3 |
A |
G |
11: 55,015,982 (GRCm39) |
S391P |
possibly damaging |
Het |
| Smad1 |
C |
A |
8: 80,066,399 (GRCm39) |
R426L |
probably damaging |
Het |
| Tent4b |
G |
A |
8: 88,969,957 (GRCm39) |
E210K |
probably damaging |
Het |
| Thrap3 |
A |
T |
4: 126,061,293 (GRCm39) |
N820K |
possibly damaging |
Het |
| Tnrc6b |
T |
C |
15: 80,807,841 (GRCm39) |
S1598P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,545,168 (GRCm39) |
I32645V |
probably damaging |
Het |
| Zfp266 |
A |
C |
9: 20,410,777 (GRCm39) |
Y467D |
probably damaging |
Het |
| Zfp526 |
T |
A |
7: 24,925,628 (GRCm39) |
M629K |
probably damaging |
Het |
| Zhx3 |
A |
G |
2: 160,622,368 (GRCm39) |
W600R |
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 |
|
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 |
PCR Primer
(F):5'- CTCATACTGGCGAGAAACCCTA -3'
(R):5'- CTGCACTGTGAGTCCTTTCAT -3'
Sequencing Primer
(F):5'- GATTTGCAGCAAAGCCTTCG -3'
(R):5'- AGGACTTACCACACTGTGTACATTC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation