Incidental Mutation 'R4019:Zfp777'
| ID |
312679 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp777
|
| Ensembl Gene |
ENSMUSG00000071477 |
| Gene Name |
zinc finger protein 777 |
| Synonyms |
2500002G23Rik |
| MMRRC Submission |
040953-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.837)
|
| Stock # |
R4019 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
48001122-48025845 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 48019046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 296
(Q296L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093637
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095944]
[ENSMUST00000114583]
[ENSMUST00000125385]
[ENSMUST00000147281]
|
| AlphaFold |
B9EKF4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095944
AA Change: Q296L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000093637
Gene: ENSMUSG00000071477
AA Change: Q296L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3669
|
177 |
256 |
4.3e-12 |
PFAM |
|
KRAB
|
284 |
344 |
1.6e-29 |
SMART |
|
low complexity region
|
422 |
433 |
N/A |
INTRINSIC |
|
coiled coil region
|
454 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
489 |
505 |
N/A |
INTRINSIC |
|
low complexity region
|
520 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
539 |
555 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
557 |
579 |
1.2e-5 |
SMART |
|
ZnF_C2H2
|
585 |
607 |
3.8e-5 |
SMART |
|
ZnF_C2H2
|
646 |
668 |
1.1e-6 |
SMART |
|
ZnF_C2H2
|
674 |
696 |
4.6e-6 |
SMART |
|
ZnF_C2H2
|
704 |
726 |
3.2e-7 |
SMART |
|
ZnF_C2H2
|
732 |
754 |
3.3e-6 |
SMART |
|
ZnF_C2H2
|
760 |
782 |
8.4e-6 |
SMART |
|
ZnF_C2H2
|
788 |
810 |
4.9e-5 |
SMART |
|
ZnF_C2H2
|
816 |
838 |
1.1e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114583
AA Change: Q340L
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110230
Gene: ENSMUSG00000071477
AA Change: Q340L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
24 |
N/A |
INTRINSIC |
|
Pfam:DUF3669
|
231 |
298 |
4.7e-12 |
PFAM |
|
KRAB
|
328 |
388 |
3.96e-27 |
SMART |
|
low complexity region
|
466 |
477 |
N/A |
INTRINSIC |
|
coiled coil region
|
498 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
549 |
N/A |
INTRINSIC |
|
low complexity region
|
564 |
576 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
599 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
601 |
623 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
629 |
651 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
690 |
712 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
718 |
740 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
748 |
770 |
7.49e-5 |
SMART |
|
ZnF_C2H2
|
776 |
798 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
804 |
826 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
832 |
854 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
860 |
882 |
2.53e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125385
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147281
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000148362
AA Change: Q148L
|
| SMART Domains |
Protein: ENSMUSP00000116303
Gene: ENSMUSG00000071477
AA Change: Q148L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3669
|
40 |
107 |
6.1e-13 |
PFAM |
|
KRAB
|
137 |
197 |
3.96e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203645
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy1 |
T |
C |
9: 106,313,978 (GRCm39) |
T61A |
possibly damaging |
Het |
| Ap4e1 |
C |
T |
2: 126,903,846 (GRCm39) |
S916F |
probably benign |
Het |
| Brpf1 |
G |
A |
6: 113,287,243 (GRCm39) |
R157Q |
probably damaging |
Het |
| Canx |
A |
T |
11: 50,190,072 (GRCm39) |
S429T |
probably damaging |
Het |
| Casz1 |
C |
T |
4: 149,017,335 (GRCm39) |
P208L |
probably benign |
Het |
| Ctnnd1 |
C |
T |
2: 84,450,302 (GRCm39) |
R306H |
probably damaging |
Het |
| Dip2c |
T |
C |
13: 9,664,401 (GRCm39) |
V909A |
probably damaging |
Het |
| Epg5 |
C |
A |
18: 78,073,665 (GRCm39) |
Q2511K |
probably damaging |
Het |
| Ghitm |
G |
A |
14: 36,852,651 (GRCm39) |
A143V |
probably damaging |
Het |
| Gramd2b |
T |
C |
18: 56,612,026 (GRCm39) |
|
probably null |
Het |
| Ifitm3 |
T |
C |
7: 140,589,772 (GRCm39) |
T94A |
possibly damaging |
Het |
| Ift81 |
G |
A |
5: 122,731,192 (GRCm39) |
T321M |
probably benign |
Het |
| Ikbkb |
C |
T |
8: 23,161,728 (GRCm39) |
V387I |
probably benign |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Lpar5 |
A |
G |
6: 125,058,638 (GRCm39) |
N120D |
probably damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,506,119 (GRCm39) |
S1950P |
probably benign |
Het |
| Lrrtm2 |
T |
C |
18: 35,345,923 (GRCm39) |
I460V |
possibly damaging |
Het |
| Naip5 |
T |
C |
13: 100,359,883 (GRCm39) |
E451G |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,902 (GRCm39) |
I445V |
probably benign |
Het |
| Nbas |
A |
G |
12: 13,532,520 (GRCm39) |
R1743G |
probably damaging |
Het |
| Nherf4 |
A |
T |
9: 44,162,117 (GRCm39) |
|
probably null |
Het |
| Notch1 |
T |
C |
2: 26,371,154 (GRCm39) |
T311A |
probably benign |
Het |
| Oplah |
A |
G |
15: 76,181,476 (GRCm39) |
Y1155H |
probably damaging |
Het |
| Or4c15 |
A |
G |
2: 88,760,080 (GRCm39) |
I193T |
probably benign |
Het |
| Or52k2 |
T |
C |
7: 102,253,849 (GRCm39) |
F96S |
probably damaging |
Het |
| Pcnx1 |
C |
T |
12: 81,965,018 (GRCm39) |
T395I |
probably damaging |
Het |
| Pdgfb |
A |
C |
15: 79,885,923 (GRCm39) |
V108G |
probably damaging |
Het |
| Prpf40b |
T |
C |
15: 99,214,357 (GRCm39) |
S846P |
probably benign |
Het |
| Ptprc |
T |
A |
1: 138,006,254 (GRCm39) |
H752L |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Scn3a |
A |
G |
2: 65,356,295 (GRCm39) |
|
probably benign |
Het |
| Sco1 |
T |
G |
11: 66,954,846 (GRCm39) |
S284A |
probably benign |
Het |
| Slc25a10 |
T |
A |
11: 120,388,265 (GRCm39) |
M227K |
probably damaging |
Het |
| Sox8 |
A |
G |
17: 25,789,271 (GRCm39) |
Y76H |
probably damaging |
Het |
| Spdya |
A |
C |
17: 71,863,309 (GRCm39) |
K19N |
possibly damaging |
Het |
| Syngap1 |
C |
T |
17: 27,171,315 (GRCm39) |
|
probably benign |
Het |
| Sytl3 |
T |
C |
17: 7,003,892 (GRCm39) |
S326P |
probably damaging |
Het |
| Tbl3 |
A |
G |
17: 24,923,695 (GRCm39) |
V239A |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,937,901 (GRCm39) |
I1592V |
probably benign |
Het |
| Vmn2r109 |
T |
A |
17: 20,774,074 (GRCm39) |
D427V |
probably benign |
Het |
| Vmn2r115 |
A |
G |
17: 23,579,017 (GRCm39) |
K830R |
probably damaging |
Het |
| Vmn2r45 |
A |
T |
7: 8,474,580 (GRCm39) |
L816* |
probably null |
Het |
| Zfp335 |
C |
T |
2: 164,743,380 (GRCm39) |
R536H |
probably damaging |
Het |
|
| Other mutations in Zfp777 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01530:Zfp777
|
APN |
6 |
48,020,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01916:Zfp777
|
APN |
6 |
48,002,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01959:Zfp777
|
APN |
6 |
48,021,275 (GRCm39) |
missense |
probably benign |
|
|
IGL02167:Zfp777
|
APN |
6 |
48,021,460 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03150:Zfp777
|
APN |
6 |
48,021,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Zfp777
|
UTSW |
6 |
48,001,903 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0238:Zfp777
|
UTSW |
6 |
48,001,903 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0372:Zfp777
|
UTSW |
6 |
48,021,410 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0762:Zfp777
|
UTSW |
6 |
48,006,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1300:Zfp777
|
UTSW |
6 |
48,002,704 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1727:Zfp777
|
UTSW |
6 |
48,020,824 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1906:Zfp777
|
UTSW |
6 |
48,018,995 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2047:Zfp777
|
UTSW |
6 |
48,021,280 (GRCm39) |
missense |
probably benign |
|
|
R2097:Zfp777
|
UTSW |
6 |
48,021,176 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2211:Zfp777
|
UTSW |
6 |
48,020,819 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2898:Zfp777
|
UTSW |
6 |
48,002,594 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3123:Zfp777
|
UTSW |
6 |
48,006,050 (GRCm39) |
unclassified |
probably benign |
|
|
R3832:Zfp777
|
UTSW |
6 |
48,021,149 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4077:Zfp777
|
UTSW |
6 |
48,002,456 (GRCm39) |
missense |
probably benign |
|
|
R4471:Zfp777
|
UTSW |
6 |
48,019,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5021:Zfp777
|
UTSW |
6 |
48,019,061 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5030:Zfp777
|
UTSW |
6 |
48,014,601 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5819:Zfp777
|
UTSW |
6 |
48,014,522 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6544:Zfp777
|
UTSW |
6 |
48,021,419 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6736:Zfp777
|
UTSW |
6 |
48,001,790 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6971:Zfp777
|
UTSW |
6 |
48,001,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7240:Zfp777
|
UTSW |
6 |
48,021,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7258:Zfp777
|
UTSW |
6 |
48,002,731 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7586:Zfp777
|
UTSW |
6 |
48,006,152 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7833:Zfp777
|
UTSW |
6 |
48,002,072 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7947:Zfp777
|
UTSW |
6 |
48,001,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8136:Zfp777
|
UTSW |
6 |
48,021,559 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8151:Zfp777
|
UTSW |
6 |
48,006,075 (GRCm39) |
nonsense |
probably null |
|
|
R8348:Zfp777
|
UTSW |
6 |
48,006,101 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8448:Zfp777
|
UTSW |
6 |
48,006,101 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8942:Zfp777
|
UTSW |
6 |
48,006,125 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8983:Zfp777
|
UTSW |
6 |
48,006,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9205:Zfp777
|
UTSW |
6 |
48,002,521 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9397:Zfp777
|
UTSW |
6 |
48,021,190 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9562:Zfp777
|
UTSW |
6 |
48,021,580 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9565:Zfp777
|
UTSW |
6 |
48,021,580 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
RF008:Zfp777
|
UTSW |
6 |
48,018,982 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Zfp777
|
UTSW |
6 |
48,002,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTGCCTTTTCCCAATACAGGAG -3'
(R):5'- AGGCAAGATGAGTCCTCCAC -3'
Sequencing Primer
(F):5'- ATACAGGAGCTGCTGTTCAC -3'
(R):5'- GCAGAATGTTGATAAGGCTCCCTAC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation