Incidental Mutation 'R5021:Zfp777'
| ID |
389188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp777
|
| Ensembl Gene |
ENSMUSG00000071477 |
| Gene Name |
zinc finger protein 777 |
| Synonyms |
2500002G23Rik |
| MMRRC Submission |
042612-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.872)
|
| Stock # |
R5021 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
48001122-48025845 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48019061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 291
(V291A)
|
| 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: V291A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000093637
Gene: ENSMUSG00000071477
AA Change: V291A
| 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: V335A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110230
Gene: ENSMUSG00000071477
AA Change: V335A
| 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 |
possibly damaging
Transcript: ENSMUST00000148362
AA Change: V143A
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000116303
Gene: ENSMUSG00000071477
AA Change: V143A
| 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
|
| Meta Mutation Damage Score |
0.4882 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.8%
|
| Validation Efficiency |
95% (39/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano5 |
A |
T |
7: 51,205,933 (GRCm39) |
T242S |
probably benign |
Het |
| B3gnt4 |
G |
C |
5: 123,649,010 (GRCm39) |
R125P |
probably damaging |
Het |
| Blvrb |
A |
C |
7: 27,147,543 (GRCm39) |
M1L |
probably benign |
Het |
| Cep112 |
T |
A |
11: 108,361,154 (GRCm39) |
H169Q |
possibly damaging |
Het |
| Clcn1 |
A |
T |
6: 42,287,922 (GRCm39) |
K718* |
probably null |
Het |
| Clhc1 |
A |
G |
11: 29,510,627 (GRCm39) |
N226S |
probably benign |
Het |
| Cpne1 |
T |
C |
2: 155,940,193 (GRCm39) |
|
probably benign |
Het |
| Cspg4 |
G |
A |
9: 56,805,014 (GRCm39) |
V1942I |
probably benign |
Het |
| Decr2 |
A |
T |
17: 26,301,980 (GRCm39) |
L250Q |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,136,758 (GRCm39) |
T1343A |
probably damaging |
Het |
| Eed |
A |
T |
7: 89,621,513 (GRCm39) |
L45M |
probably damaging |
Het |
| Ep300 |
T |
A |
15: 81,524,224 (GRCm39) |
S1351T |
unknown |
Het |
| Fam184b |
T |
A |
5: 45,730,604 (GRCm39) |
Q476L |
probably benign |
Het |
| Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,377,608 (GRCm39) |
K3458M |
possibly damaging |
Het |
| Ift122 |
A |
G |
6: 115,841,333 (GRCm39) |
D39G |
probably benign |
Het |
| Igf2bp1 |
A |
G |
11: 95,864,832 (GRCm39) |
Y206H |
probably damaging |
Het |
| Ighv1-19 |
T |
C |
12: 114,672,686 (GRCm39) |
I6V |
probably benign |
Het |
| Itm2c |
T |
C |
1: 85,833,059 (GRCm39) |
I131T |
probably damaging |
Het |
| Kcnd3 |
A |
T |
3: 105,566,070 (GRCm39) |
D417V |
probably damaging |
Het |
| Klf4 |
T |
C |
4: 55,530,970 (GRCm39) |
E38G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,228,302 (GRCm39) |
M1064V |
probably benign |
Het |
| Map4 |
C |
T |
9: 109,867,157 (GRCm39) |
Q265* |
probably null |
Het |
| Mcf2l |
T |
G |
8: 13,061,808 (GRCm39) |
V893G |
probably damaging |
Het |
| Mlst8 |
C |
T |
17: 24,696,193 (GRCm39) |
D179N |
possibly damaging |
Het |
| Mup6 |
T |
A |
4: 59,964,352 (GRCm39) |
N18K |
probably damaging |
Het |
| Nbeal2 |
G |
A |
9: 110,466,531 (GRCm39) |
R764W |
probably damaging |
Het |
| Ncoa6 |
A |
T |
2: 155,248,869 (GRCm39) |
S1478R |
probably benign |
Het |
| Pcdhga1 |
C |
A |
18: 37,796,876 (GRCm39) |
R627S |
probably damaging |
Het |
| Sacm1l |
A |
G |
9: 123,411,393 (GRCm39) |
D394G |
probably damaging |
Het |
| Schip1 |
A |
G |
3: 68,402,585 (GRCm39) |
T221A |
probably benign |
Het |
| Slc35c1 |
A |
G |
2: 92,289,366 (GRCm39) |
Y47H |
possibly damaging |
Het |
| Tspan32 |
A |
G |
7: 142,568,715 (GRCm39) |
D70G |
probably damaging |
Het |
| Vmn2r68 |
T |
C |
7: 84,882,942 (GRCm39) |
Y270C |
possibly 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 |
|
R4019:Zfp777
|
UTSW |
6 |
48,019,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4077:Zfp777
|
UTSW |
6 |
48,002,456 (GRCm39) |
missense |
probably benign |
|
|
R4471:Zfp777
|
UTSW |
6 |
48,019,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CCCAATACAGGAGCTGCTGTTC -3'
(R):5'- AGGCAAGATGAGTCCTCCAC -3'
Sequencing Primer
(F):5'- ATACAGGAGCTGCTGTTCACATTTC -3'
(R):5'- GCAGAATGTTGATAAGGCTCCCTAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation