Incidental Mutation 'R2313:Zfp788'
| ID |
245375 |
| 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 # |
R2313 (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 41298312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 316
(H316R)
|
| 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: H296R
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000035499
Gene: ENSMUSG00000074165
AA Change: H296R
| 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: H316R
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000096108
Gene: ENSMUSG00000074165
AA Change: H316R
| 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: H264R
PolyPhen 2
Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000097847
Gene: ENSMUSG00000074165
AA Change: H264R
| 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 |
possibly damaging
Transcript: ENSMUST00000140964
AA Change: H264R
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000116050
Gene: ENSMUSG00000074165
AA Change: H264R
| 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: H264R
PolyPhen 2
Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000132848
Gene: ENSMUSG00000074165
AA Change: H264R
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox5 |
T |
A |
6: 116,390,822 (GRCm39) |
D443V |
probably benign |
Het |
| Ankrd53 |
A |
T |
6: 83,740,662 (GRCm39) |
H95L |
probably damaging |
Het |
| Chrnb3 |
A |
G |
8: 27,883,809 (GRCm39) |
Y182C |
probably damaging |
Het |
| Cln5 |
C |
T |
14: 103,309,182 (GRCm39) |
R79* |
probably null |
Het |
| Cntn3 |
C |
A |
6: 102,180,889 (GRCm39) |
V769L |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Il1r1 |
T |
C |
1: 40,352,470 (GRCm39) |
S550P |
probably benign |
Het |
| Klra7 |
T |
A |
6: 130,205,505 (GRCm39) |
T132S |
probably benign |
Het |
| Lrch3 |
A |
G |
16: 32,782,045 (GRCm39) |
N273S |
probably damaging |
Het |
| Lrriq3 |
A |
T |
3: 154,869,660 (GRCm39) |
R328S |
probably benign |
Het |
| Mpp2 |
T |
C |
11: 101,952,898 (GRCm39) |
E318G |
possibly damaging |
Het |
| Or4c122 |
C |
A |
2: 89,079,285 (GRCm39) |
C239F |
probably damaging |
Het |
| Or4n4 |
G |
A |
14: 50,519,431 (GRCm39) |
S93F |
probably damaging |
Het |
| Pglyrp2 |
A |
T |
17: 32,637,673 (GRCm39) |
D118E |
probably damaging |
Het |
| Ppp4c |
A |
G |
7: 126,386,629 (GRCm39) |
S153P |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,712,027 (GRCm39) |
S1642G |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Unc13d |
A |
G |
11: 115,954,560 (GRCm39) |
F1016S |
probably damaging |
Het |
| Vwa8 |
C |
G |
14: 79,149,658 (GRCm39) |
T140S |
probably damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,037,150 (GRCm39) |
F2046L |
probably damaging |
Het |
| Zfp994 |
T |
A |
17: 22,420,266 (GRCm39) |
I228F |
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 |
|
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'- GTTCCTGTGAAAGTCGTGGAAG -3'
(R):5'- AGCTATAGGGCTTTTCTGCAC -3'
Sequencing Primer
(F):5'- AAGCCCTATGAATGTAGGCTGTG -3'
(R):5'- CTGCACTGTGAGTTCTTTCATG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation