Incidental Mutation 'IGL01530:Zfp777'
ID |
89703 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfp777
|
Ensembl Gene |
ENSMUSG00000071477 |
Gene Name |
zinc finger protein 777 |
Synonyms |
2500002G23Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.872)
|
Stock # |
IGL01530
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
48001122-48025845 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 48020918 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 279
(S279C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110230
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095944]
[ENSMUST00000114583]
[ENSMUST00000125385]
[ENSMUST00000147281]
|
AlphaFold |
B9EKF4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095944
AA Change: S235C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000093637 Gene: ENSMUSG00000071477 AA Change: S235C
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: S279C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110230 Gene: ENSMUSG00000071477 AA Change: S279C
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: S87C
|
SMART Domains |
Protein: ENSMUSP00000116303 Gene: ENSMUSG00000071477 AA Change: S87C
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: ENSMUST00000175187
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203645
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acin1 |
G |
A |
14: 54,881,443 (GRCm39) |
R1117W |
probably damaging |
Het |
Acox2 |
T |
G |
14: 8,246,363 (GRCm38) |
Y476S |
probably damaging |
Het |
Arl6ip5 |
G |
A |
6: 97,187,785 (GRCm39) |
D2N |
possibly damaging |
Het |
Ces2h |
A |
G |
8: 105,741,116 (GRCm39) |
H36R |
probably benign |
Het |
Cfap44 |
C |
A |
16: 44,269,530 (GRCm39) |
A1178E |
probably damaging |
Het |
Clmn |
T |
A |
12: 104,758,115 (GRCm39) |
I134F |
probably damaging |
Het |
Col6a5 |
A |
G |
9: 105,792,385 (GRCm39) |
|
probably benign |
Het |
Csmd1 |
C |
T |
8: 15,953,195 (GRCm39) |
E3429K |
probably damaging |
Het |
Csmd2 |
A |
G |
4: 128,308,094 (GRCm39) |
D1284G |
possibly damaging |
Het |
Csmd3 |
C |
T |
15: 47,701,833 (GRCm39) |
G1750E |
possibly damaging |
Het |
Csmd3 |
T |
G |
15: 47,533,013 (GRCm39) |
D2516A |
probably damaging |
Het |
Depdc1a |
C |
T |
3: 159,229,560 (GRCm39) |
H631Y |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,174,213 (GRCm39) |
S2167T |
probably benign |
Het |
Flii |
G |
A |
11: 60,611,008 (GRCm39) |
R474* |
probably null |
Het |
Hmcn2 |
A |
C |
2: 31,244,276 (GRCm39) |
D687A |
possibly damaging |
Het |
Hrh4 |
A |
G |
18: 13,149,004 (GRCm39) |
|
probably benign |
Het |
Hsd3b5 |
G |
A |
3: 98,526,439 (GRCm39) |
R336C |
probably damaging |
Het |
Igkv5-39 |
T |
A |
6: 69,877,459 (GRCm39) |
E79V |
probably damaging |
Het |
Iqgap3 |
G |
A |
3: 88,019,610 (GRCm39) |
|
probably null |
Het |
Irak3 |
G |
A |
10: 119,978,699 (GRCm39) |
S492F |
probably benign |
Het |
Kif14 |
T |
A |
1: 136,406,157 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
T |
C |
5: 25,518,498 (GRCm39) |
I2394V |
probably benign |
Het |
Lama1 |
C |
T |
17: 68,103,785 (GRCm39) |
A2002V |
probably benign |
Het |
Map3k19 |
T |
C |
1: 127,749,841 (GRCm39) |
E1170G |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,711,938 (GRCm39) |
|
probably benign |
Het |
Mpo |
G |
T |
11: 87,692,017 (GRCm39) |
M483I |
probably benign |
Het |
Neu3 |
T |
C |
7: 99,462,953 (GRCm39) |
S257G |
probably benign |
Het |
Nhsl3 |
G |
A |
4: 129,116,589 (GRCm39) |
|
probably null |
Het |
Niban3 |
A |
T |
8: 72,056,561 (GRCm39) |
|
probably benign |
Het |
Nup214 |
A |
G |
2: 31,923,733 (GRCm39) |
T1421A |
probably benign |
Het |
Pbx1 |
T |
C |
1: 168,018,873 (GRCm39) |
N324S |
probably benign |
Het |
Pcbp2 |
T |
C |
15: 102,392,601 (GRCm39) |
S5P |
probably benign |
Het |
Pds5b |
A |
G |
5: 150,715,640 (GRCm39) |
I511V |
probably benign |
Het |
Pdzph1 |
C |
T |
17: 59,229,710 (GRCm39) |
D983N |
probably damaging |
Het |
Phldb2 |
A |
C |
16: 45,623,092 (GRCm39) |
D651E |
probably damaging |
Het |
Pkhd1 |
A |
G |
1: 20,629,643 (GRCm39) |
|
probably null |
Het |
Plxnb1 |
A |
G |
9: 108,939,473 (GRCm39) |
D1406G |
probably benign |
Het |
Rhebl1 |
T |
C |
15: 98,777,367 (GRCm39) |
D65G |
probably damaging |
Het |
Smpdl3a |
A |
G |
10: 57,683,989 (GRCm39) |
H249R |
probably damaging |
Het |
Sorbs1 |
T |
C |
19: 40,365,091 (GRCm39) |
T231A |
probably benign |
Het |
Tmem232 |
G |
A |
17: 65,563,543 (GRCm39) |
Q617* |
probably null |
Het |
Trim62 |
A |
G |
4: 128,778,252 (GRCm39) |
D97G |
probably benign |
Het |
Tsc2 |
T |
C |
17: 24,841,636 (GRCm39) |
T328A |
possibly damaging |
Het |
Ugt2b5 |
C |
T |
5: 87,285,104 (GRCm39) |
V278I |
probably benign |
Het |
Usp4 |
T |
C |
9: 108,240,099 (GRCm39) |
|
probably null |
Het |
Vdac3-ps1 |
C |
T |
13: 18,206,091 (GRCm39) |
|
noncoding transcript |
Het |
Wwc2 |
T |
A |
8: 48,316,974 (GRCm39) |
R706S |
unknown |
Het |
Xpot |
A |
C |
10: 121,447,433 (GRCm39) |
I114S |
probably damaging |
Het |
|
Other mutations in Zfp777 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2013-12-03 |