Incidental Mutation 'R2030:Zfp788'
ID |
221140 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp788
|
Ensembl Gene |
ENSMUSG00000074165 |
Gene Name |
zinc finger protein 788 |
Synonyms |
2810426N06Rik |
MMRRC Submission |
040037-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R2030 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
41282955-41300305 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 41298984 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 540
(H540R)
|
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: H520R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000035499 Gene: ENSMUSG00000074165 AA Change: H520R
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: H540R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000096108 Gene: ENSMUSG00000074165 AA Change: H540R
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: H488R
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000097847 Gene: ENSMUSG00000074165 AA Change: H488R
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: H488R
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000132848 Gene: ENSMUSG00000074165 AA Change: H488R
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 |
0.3556 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
100% (54/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adtrp |
C |
T |
13: 41,981,735 (GRCm39) |
V13I |
probably damaging |
Het |
Ak2 |
A |
G |
4: 128,902,013 (GRCm39) |
K229E |
probably benign |
Het |
Atp13a4 |
A |
T |
16: 29,241,502 (GRCm39) |
V741D |
probably damaging |
Het |
Bdp1 |
A |
T |
13: 100,197,697 (GRCm39) |
M896K |
probably benign |
Het |
Ccser1 |
C |
T |
6: 61,288,547 (GRCm39) |
R237C |
probably benign |
Het |
Cdk7 |
A |
G |
13: 100,859,182 (GRCm39) |
|
probably benign |
Het |
CK137956 |
A |
G |
4: 127,845,180 (GRCm39) |
S188P |
probably benign |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dbndd2 |
A |
G |
2: 164,330,563 (GRCm39) |
D72G |
probably damaging |
Het |
Disp3 |
A |
T |
4: 148,344,423 (GRCm39) |
I493N |
probably damaging |
Het |
Dnaaf10 |
A |
T |
11: 17,179,832 (GRCm39) |
T278S |
probably benign |
Het |
Epx |
T |
C |
11: 87,755,650 (GRCm39) |
D678G |
probably damaging |
Het |
Fbxw5 |
G |
T |
2: 25,394,810 (GRCm39) |
V235L |
probably damaging |
Het |
Fmo4 |
T |
A |
1: 162,621,741 (GRCm39) |
D490V |
probably damaging |
Het |
Fuca2 |
A |
G |
10: 13,382,518 (GRCm39) |
Y268C |
probably damaging |
Het |
Gm4787 |
C |
T |
12: 81,425,544 (GRCm39) |
V205I |
probably damaging |
Het |
Gpat3 |
G |
A |
5: 101,045,687 (GRCm39) |
R437K |
probably benign |
Het |
Herc2 |
A |
G |
7: 55,834,121 (GRCm39) |
S3109G |
probably damaging |
Het |
Hr |
G |
A |
14: 70,808,888 (GRCm39) |
R1117H |
probably damaging |
Het |
Htra4 |
T |
A |
8: 25,523,593 (GRCm39) |
D324V |
probably damaging |
Het |
Kcnd3 |
A |
G |
3: 105,366,853 (GRCm39) |
Y241C |
probably damaging |
Het |
Kcp |
G |
A |
6: 29,489,071 (GRCm39) |
L1072F |
probably damaging |
Het |
Lrrc52 |
T |
C |
1: 167,294,028 (GRCm39) |
N86D |
probably benign |
Het |
Mindy4 |
A |
G |
6: 55,188,247 (GRCm39) |
T26A |
probably damaging |
Het |
Mre11a |
A |
T |
9: 14,707,101 (GRCm39) |
N117Y |
probably damaging |
Het |
Mrgprb1 |
A |
T |
7: 48,097,076 (GRCm39) |
S279T |
possibly damaging |
Het |
Myh13 |
T |
G |
11: 67,241,064 (GRCm39) |
S814A |
probably benign |
Het |
Ncapd2 |
A |
G |
6: 125,153,678 (GRCm39) |
V679A |
possibly damaging |
Het |
Nipbl |
A |
T |
15: 8,379,771 (GRCm39) |
V1007D |
probably damaging |
Het |
Nlrp12 |
T |
A |
7: 3,277,049 (GRCm39) |
H960L |
probably damaging |
Het |
Or3a1c |
T |
A |
11: 74,046,769 (GRCm39) |
M263K |
possibly damaging |
Het |
Or4a72 |
C |
T |
2: 89,405,558 (GRCm39) |
V171I |
probably benign |
Het |
Or7e169 |
A |
G |
9: 19,757,709 (GRCm39) |
S69P |
probably benign |
Het |
Pklr |
A |
G |
3: 89,050,545 (GRCm39) |
Y402C |
probably damaging |
Het |
Prdm2 |
T |
C |
4: 142,859,334 (GRCm39) |
T1319A |
possibly damaging |
Het |
Rif1 |
T |
A |
2: 51,982,358 (GRCm39) |
V541E |
probably damaging |
Het |
Ryk |
T |
A |
9: 102,758,855 (GRCm39) |
I248N |
possibly damaging |
Het |
Shisa2 |
A |
T |
14: 59,867,134 (GRCm39) |
I129F |
probably damaging |
Het |
Snap25 |
T |
G |
2: 136,611,973 (GRCm39) |
|
probably benign |
Het |
Snx31 |
G |
A |
15: 36,525,848 (GRCm39) |
P284S |
probably benign |
Het |
Spata31g1 |
C |
T |
4: 42,974,131 (GRCm39) |
Q1155* |
probably null |
Het |
Tas2r140 |
A |
G |
6: 40,469,154 (GRCm39) |
K328R |
possibly damaging |
Het |
Tas2r140 |
T |
C |
6: 133,032,213 (GRCm39) |
T182A |
probably benign |
Het |
Thumpd2 |
G |
A |
17: 81,372,387 (GRCm39) |
R35C |
probably damaging |
Het |
Tnxb |
A |
T |
17: 34,937,443 (GRCm39) |
N3811Y |
probably damaging |
Het |
Tpte |
A |
C |
8: 22,835,901 (GRCm39) |
N428T |
probably damaging |
Het |
Trpm6 |
A |
G |
19: 18,831,629 (GRCm39) |
D1498G |
probably benign |
Het |
Tsc2 |
C |
T |
17: 24,842,444 (GRCm39) |
|
probably benign |
Het |
Ttn |
C |
T |
2: 76,703,277 (GRCm39) |
|
probably benign |
Het |
Wdr24 |
A |
G |
17: 26,045,017 (GRCm39) |
I251V |
probably benign |
Het |
Zc3h6 |
T |
C |
2: 128,848,006 (GRCm39) |
Y278H |
probably damaging |
Het |
Zfat |
A |
G |
15: 67,990,783 (GRCm39) |
|
probably null |
Het |
Zfp442 |
A |
T |
2: 150,250,042 (GRCm39) |
V620E |
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 |
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 |
PCR Primer
(F):5'- TGGCAGGTCCTTTATTTATCCC -3'
(R):5'- AAGGAGTTACCACACTGTTCAC -3'
Sequencing Primer
(F):5'- TCAGTGACCTTCGAGTCCATGAAAG -3'
(R):5'- ACCACACTGTTCACATTTATATGG -3'
|
Posted On |
2014-08-25 |