Incidental Mutation 'R5917:Zfp788'
ID |
461394 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp788
|
Ensembl Gene |
ENSMUSG00000074165 |
Gene Name |
zinc finger protein 788 |
Synonyms |
2810426N06Rik |
MMRRC Submission |
044114-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R5917 (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 G
at 41298572 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 351
(K351E)
|
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 benign
Transcript: ENSMUST00000045720
AA Change: K383E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000035499 Gene: ENSMUSG00000074165 AA Change: K383E
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 benign
Transcript: ENSMUST00000098508
AA Change: K403E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000096108 Gene: ENSMUSG00000074165 AA Change: K403E
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 benign
Transcript: ENSMUST00000100275
AA Change: K351E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000097847 Gene: ENSMUSG00000074165 AA Change: K351E
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 benign
Transcript: ENSMUST00000170770
AA Change: K351E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000132848 Gene: ENSMUSG00000074165 AA Change: K351E
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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
T |
A |
12: 118,832,516 (GRCm39) |
R1153* |
probably null |
Het |
Amdhd1 |
T |
C |
10: 93,360,332 (GRCm39) |
H409R |
possibly damaging |
Het |
Anks1b |
C |
T |
10: 90,412,803 (GRCm39) |
|
probably benign |
Het |
Ascc2 |
T |
C |
11: 4,631,506 (GRCm39) |
L649P |
probably benign |
Het |
Chst15 |
A |
G |
7: 131,872,246 (GRCm39) |
F12L |
probably benign |
Het |
Clec4a4 |
A |
T |
6: 122,981,017 (GRCm39) |
K83N |
probably benign |
Het |
Comp |
T |
A |
8: 70,829,011 (GRCm39) |
|
probably null |
Het |
Cryz |
T |
A |
3: 154,327,403 (GRCm39) |
S144T |
probably benign |
Het |
Ctss |
A |
G |
3: 95,450,424 (GRCm39) |
D125G |
probably benign |
Het |
Dact1 |
G |
T |
12: 71,365,456 (GRCm39) |
V746L |
possibly damaging |
Het |
Dhx29 |
A |
G |
13: 113,099,377 (GRCm39) |
H1134R |
probably damaging |
Het |
Dlgap4 |
A |
G |
2: 156,546,460 (GRCm39) |
D376G |
probably damaging |
Het |
Dnah3 |
T |
A |
7: 119,615,749 (GRCm39) |
H1660L |
probably damaging |
Het |
Ep300 |
T |
A |
15: 81,512,808 (GRCm39) |
|
probably benign |
Het |
Fbxo30 |
A |
T |
10: 11,165,262 (GRCm39) |
|
probably null |
Het |
Fcrl2 |
T |
A |
3: 87,164,094 (GRCm39) |
H345L |
probably damaging |
Het |
Galnt11 |
C |
A |
5: 25,452,670 (GRCm39) |
|
probably null |
Het |
Il31ra |
A |
G |
13: 112,682,846 (GRCm39) |
C87R |
probably benign |
Het |
Itga4 |
A |
T |
2: 79,117,442 (GRCm39) |
Q416L |
probably damaging |
Het |
Kcnt2 |
A |
T |
1: 140,461,666 (GRCm39) |
T806S |
probably damaging |
Het |
Lama2 |
A |
G |
10: 27,066,693 (GRCm39) |
S1063P |
probably damaging |
Het |
Lama4 |
T |
A |
10: 38,924,028 (GRCm39) |
S479T |
probably benign |
Het |
Lgi4 |
C |
T |
7: 30,759,603 (GRCm39) |
T53M |
possibly damaging |
Het |
Limk1 |
A |
G |
5: 134,686,789 (GRCm39) |
F533L |
probably damaging |
Het |
Loxl1 |
A |
G |
9: 58,220,006 (GRCm39) |
L55P |
probably damaging |
Het |
Map1a |
A |
G |
2: 121,135,697 (GRCm39) |
E1933G |
probably damaging |
Het |
Matn2 |
T |
A |
15: 34,409,912 (GRCm39) |
C447* |
probably null |
Het |
Mmrn1 |
T |
C |
6: 60,950,134 (GRCm39) |
|
probably null |
Het |
Or2a7 |
C |
T |
6: 43,151,646 (GRCm39) |
S242F |
probably damaging |
Het |
Or4a66 |
A |
T |
2: 88,531,049 (GRCm39) |
I208N |
possibly damaging |
Het |
Or4d1 |
A |
T |
11: 87,805,215 (GRCm39) |
N172K |
probably damaging |
Het |
Otor |
A |
G |
2: 142,920,431 (GRCm39) |
I4M |
probably benign |
Het |
P2rx3 |
A |
T |
2: 84,865,591 (GRCm39) |
V18E |
probably damaging |
Het |
Pcdh7 |
T |
C |
5: 57,879,097 (GRCm39) |
V884A |
probably damaging |
Het |
Pcdhb4 |
T |
A |
18: 37,442,619 (GRCm39) |
V643D |
probably damaging |
Het |
Pelo |
A |
G |
13: 115,225,930 (GRCm39) |
S176P |
possibly damaging |
Het |
Ppp2r3d |
A |
T |
9: 101,089,183 (GRCm39) |
V380E |
probably benign |
Het |
Proc |
T |
A |
18: 32,260,513 (GRCm39) |
D204V |
probably benign |
Het |
Prpsap2 |
C |
T |
11: 61,627,870 (GRCm39) |
R202H |
probably damaging |
Het |
Resf1 |
T |
C |
6: 149,236,179 (GRCm39) |
F1500L |
probably damaging |
Het |
Rtl1 |
T |
G |
12: 109,558,087 (GRCm39) |
T1251P |
possibly damaging |
Het |
Sema6a |
T |
G |
18: 47,414,405 (GRCm39) |
I482L |
probably benign |
Het |
Smpdl3a |
T |
A |
10: 57,681,654 (GRCm39) |
|
probably null |
Het |
Strc |
T |
A |
2: 121,209,790 (GRCm39) |
M178L |
probably benign |
Het |
Taok1 |
A |
T |
11: 77,451,144 (GRCm39) |
M312K |
probably damaging |
Het |
Tle2 |
T |
C |
10: 81,416,750 (GRCm39) |
|
probably null |
Het |
Tle3 |
A |
G |
9: 61,316,190 (GRCm39) |
D296G |
probably benign |
Het |
Trank1 |
A |
G |
9: 111,191,485 (GRCm39) |
D498G |
probably benign |
Het |
Vars1 |
C |
A |
17: 35,231,491 (GRCm39) |
L672M |
probably damaging |
Het |
Vps13d |
G |
A |
4: 144,826,580 (GRCm39) |
T2866I |
probably damaging |
Het |
Zfp423 |
C |
A |
8: 88,508,860 (GRCm39) |
E370* |
probably null |
Het |
Zfp521 |
T |
A |
18: 13,978,612 (GRCm39) |
K600N |
probably damaging |
Het |
Zfp963 |
A |
T |
8: 70,195,510 (GRCm39) |
|
probably null |
Het |
Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
probably 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 |
|
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 |
|
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'- CTGGGGAAAAGCCTTACGA -3'
(R):5'- GCTTTTCCCCAGTGTGAGATCT -3'
Sequencing Primer
(F):5'- GCCTTACGAATGTAAACAGTGTG -3'
(R):5'- CGAAGGCTTTGCTGCAAATC -3'
|
Posted On |
2017-02-28 |