Incidental Mutation 'R5819:Zfp777'
| ID |
449218 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp777
|
| Ensembl Gene |
ENSMUSG00000071477 |
| Gene Name |
zinc finger protein 777 |
| Synonyms |
2500002G23Rik |
| MMRRC Submission |
043399-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.837)
|
| Stock # |
R5819 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
48001122-48025845 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 48014522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 395
(E395K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110230
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095944]
[ENSMUST00000114583]
|
| AlphaFold |
B9EKF4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095944
AA Change: E351K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000093637
Gene: ENSMUSG00000071477
AA Change: E351K
| 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: E395K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110230
Gene: ENSMUSG00000071477
AA Change: E395K
| 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 |
unknown
Transcript: ENSMUST00000148362
AA Change: E203K
|
| SMART Domains |
Protein: ENSMUSP00000116303
Gene: ENSMUSG00000071477
AA Change: E203K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3669
|
40 |
107 |
6.1e-13 |
PFAM |
|
KRAB
|
137 |
197 |
3.96e-27 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
T |
3: 121,930,630 (GRCm39) |
I1376F |
probably damaging |
Het |
| Aggf1 |
T |
C |
13: 95,488,129 (GRCm39) |
N673D |
possibly damaging |
Het |
| Avil |
T |
C |
10: 126,845,867 (GRCm39) |
F372S |
probably damaging |
Het |
| Bltp1 |
A |
T |
3: 37,102,749 (GRCm39) |
M4863L |
probably benign |
Het |
| Bod1l |
T |
A |
5: 41,989,948 (GRCm39) |
E258D |
probably benign |
Het |
| Chek1 |
T |
A |
9: 36,621,701 (GRCm39) |
H420L |
probably benign |
Het |
| Cyfip1 |
A |
G |
7: 55,528,899 (GRCm39) |
I260M |
probably damaging |
Het |
| Dclk1 |
G |
A |
3: 55,397,285 (GRCm39) |
V524I |
probably damaging |
Het |
| Efr3b |
T |
C |
12: 4,042,965 (GRCm39) |
M102V |
probably benign |
Het |
| Erc2 |
T |
A |
14: 27,863,326 (GRCm39) |
I517N |
probably damaging |
Het |
| Fubp1 |
T |
C |
3: 151,926,190 (GRCm39) |
I305T |
probably damaging |
Het |
| Galc |
T |
A |
12: 98,182,520 (GRCm39) |
D443V |
probably benign |
Het |
| Galnt4 |
T |
A |
10: 98,945,892 (GRCm39) |
I539N |
probably damaging |
Het |
| Gm17093 |
G |
T |
14: 44,758,986 (GRCm39) |
M169I |
unknown |
Het |
| Htra1 |
T |
C |
7: 130,583,469 (GRCm39) |
F363S |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,874,876 (GRCm39) |
K275N |
probably benign |
Het |
| Klhdc8b |
G |
A |
9: 108,328,261 (GRCm39) |
P64S |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,614,130 (GRCm39) |
|
probably null |
Het |
| Mettl21c |
T |
G |
1: 44,048,882 (GRCm39) |
K222Q |
probably damaging |
Het |
| Mga |
A |
C |
2: 119,771,744 (GRCm39) |
M1535L |
possibly damaging |
Het |
| Mov10 |
C |
T |
3: 104,708,828 (GRCm39) |
G395D |
probably damaging |
Het |
| Ms4a10 |
C |
A |
19: 10,946,054 (GRCm39) |
A26S |
probably benign |
Het |
| Mtcl3 |
A |
T |
10: 29,073,269 (GRCm39) |
M854L |
probably benign |
Het |
| Naaladl1 |
A |
G |
19: 6,159,684 (GRCm39) |
N372D |
possibly damaging |
Het |
| Optc |
T |
C |
1: 133,825,617 (GRCm39) |
D303G |
probably damaging |
Het |
| Or4f52 |
A |
T |
2: 111,061,304 (GRCm39) |
I278N |
probably damaging |
Het |
| Osmr |
C |
A |
15: 6,845,268 (GRCm39) |
V833L |
probably benign |
Het |
| Phf14 |
A |
G |
6: 11,997,251 (GRCm39) |
|
probably null |
Het |
| Pjvk |
A |
G |
2: 76,488,713 (GRCm39) |
I295V |
probably benign |
Het |
| Plppr4 |
T |
A |
3: 117,119,513 (GRCm39) |
I299L |
possibly damaging |
Het |
| Prkg1 |
A |
G |
19: 31,563,072 (GRCm39) |
S110P |
probably benign |
Het |
| Ptprq |
T |
A |
10: 107,555,744 (GRCm39) |
|
probably benign |
Het |
| Rarb |
T |
G |
14: 16,443,820 (GRCm38) |
N156T |
possibly damaging |
Het |
| Rgl3 |
A |
T |
9: 21,892,898 (GRCm39) |
|
probably null |
Het |
| Ruvbl1 |
A |
C |
6: 88,460,097 (GRCm39) |
|
probably null |
Het |
| S1pr1 |
G |
T |
3: 115,505,789 (GRCm39) |
C268* |
probably null |
Het |
| Sbk3 |
T |
C |
7: 4,972,996 (GRCm39) |
D58G |
probably benign |
Het |
| Scgb2b3 |
T |
A |
7: 31,059,639 (GRCm39) |
H45L |
possibly damaging |
Het |
| Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
| Tas2r119 |
T |
C |
15: 32,177,452 (GRCm39) |
L6P |
probably damaging |
Het |
| Tcp11 |
A |
T |
17: 28,288,210 (GRCm39) |
F339L |
probably damaging |
Het |
| Tdpoz8 |
A |
G |
3: 92,981,039 (GRCm39) |
Y19C |
probably damaging |
Het |
| Tmprss5 |
T |
A |
9: 49,025,779 (GRCm39) |
|
probably null |
Het |
| Trnau1ap |
A |
G |
4: 132,052,521 (GRCm39) |
|
probably benign |
Het |
| Trp53bp1 |
G |
A |
2: 121,038,873 (GRCm39) |
R1397* |
probably null |
Het |
| Ubqln3 |
G |
A |
7: 103,790,674 (GRCm39) |
P472L |
probably benign |
Het |
| Vmn2r13 |
T |
A |
5: 109,321,966 (GRCm39) |
M244L |
possibly damaging |
Het |
| Zfyve27 |
A |
G |
19: 42,171,935 (GRCm39) |
S156G |
probably benign |
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 |
|
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 |
|
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'- AACTAACTTCCTGCAGGCCTC -3'
(R):5'- GAGGTGAATACTTGCCCGTTTC -3'
Sequencing Primer
(F):5'- CCTTCCTGCAGAGCTTGATAC -3'
(R):5'- TTGCCAGCATAGCCAGTC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation