Incidental Mutation 'R6544:Zfp777'
ID |
521015 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp777
|
Ensembl Gene |
ENSMUSG00000071477 |
Gene Name |
zinc finger protein 777 |
Synonyms |
2500002G23Rik |
MMRRC Submission |
044670-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.837)
|
Stock # |
R6544 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
48001122-48025845 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 48021419 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 68
(S68T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117227
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095944]
[ENSMUST00000114583]
[ENSMUST00000125385]
[ENSMUST00000147281]
|
AlphaFold |
B9EKF4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095944
AA Change: S68T
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000093637 Gene: ENSMUSG00000071477 AA Change: S68T
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: S112T
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000110230 Gene: ENSMUSG00000071477 AA Change: S112T
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
AA Change: S68T
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000147281
AA Change: S68T
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148362
|
SMART Domains |
Protein: ENSMUSP00000116303 Gene: ENSMUSG00000071477
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
|
Meta Mutation Damage Score |
0.0629 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
100% (48/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A030005K14Rik |
T |
A |
1: 83,036,678 (GRCm39) |
K118* |
probably null |
Het |
Actr2 |
A |
G |
11: 20,050,933 (GRCm39) |
F17L |
probably damaging |
Het |
Adam26b |
T |
C |
8: 43,974,818 (GRCm39) |
I61M |
probably damaging |
Het |
Ahcyl |
A |
C |
16: 45,975,147 (GRCm39) |
S77A |
probably benign |
Het |
Ahnak2 |
A |
G |
12: 112,746,829 (GRCm39) |
|
probably benign |
Het |
Angptl3 |
T |
C |
4: 98,919,675 (GRCm39) |
L145P |
probably damaging |
Het |
Ank2 |
T |
C |
3: 126,726,871 (GRCm39) |
T808A |
probably damaging |
Het |
Ark2c |
T |
A |
18: 77,650,931 (GRCm39) |
|
probably benign |
Het |
Cadm3 |
A |
G |
1: 173,194,977 (GRCm39) |
|
probably null |
Het |
Cog7 |
C |
T |
7: 121,534,966 (GRCm39) |
R573Q |
probably damaging |
Het |
Dchs1 |
T |
A |
7: 105,407,385 (GRCm39) |
I2110F |
probably damaging |
Het |
Fbxo47 |
G |
A |
11: 97,747,089 (GRCm39) |
R326C |
probably damaging |
Het |
Frmpd1 |
A |
T |
4: 45,279,024 (GRCm39) |
D583V |
probably damaging |
Het |
Gigyf1 |
T |
A |
5: 137,523,321 (GRCm39) |
L911Q |
probably damaging |
Het |
Gprin1 |
G |
A |
13: 54,888,124 (GRCm39) |
A50V |
possibly damaging |
Het |
Grik4 |
A |
T |
9: 42,459,024 (GRCm39) |
Y571* |
probably null |
Het |
Gucy2e |
A |
G |
11: 69,126,483 (GRCm39) |
V299A |
probably benign |
Het |
Hectd2 |
C |
T |
19: 36,589,728 (GRCm39) |
L618F |
probably damaging |
Het |
Lactbl1 |
A |
T |
4: 136,360,300 (GRCm39) |
I160F |
possibly damaging |
Het |
Lats1 |
T |
A |
10: 7,577,434 (GRCm39) |
V186D |
possibly damaging |
Het |
Lmtk2 |
A |
G |
5: 144,110,624 (GRCm39) |
H448R |
possibly damaging |
Het |
Map10 |
T |
C |
8: 126,398,113 (GRCm39) |
I502T |
probably benign |
Het |
Mok |
A |
G |
12: 110,777,189 (GRCm39) |
F239S |
probably damaging |
Het |
Mprip |
G |
A |
11: 59,648,552 (GRCm39) |
G752D |
probably benign |
Het |
Naip5 |
C |
A |
13: 100,359,652 (GRCm39) |
G528V |
possibly damaging |
Het |
Neu2 |
T |
C |
1: 87,524,464 (GRCm39) |
W150R |
probably damaging |
Het |
Or1ak2 |
T |
A |
2: 36,827,539 (GRCm39) |
M136K |
possibly damaging |
Het |
Or5an1 |
T |
C |
19: 12,260,519 (GRCm39) |
Y36H |
probably damaging |
Het |
Or5as1 |
T |
A |
2: 86,980,207 (GRCm39) |
Y266F |
probably damaging |
Het |
Or5l13 |
T |
A |
2: 87,780,335 (GRCm39) |
M81L |
probably benign |
Het |
Pip5k1c |
T |
A |
10: 81,144,830 (GRCm39) |
Y224N |
probably damaging |
Het |
Plch1 |
T |
C |
3: 63,758,399 (GRCm39) |
E5G |
probably damaging |
Het |
Pspc1 |
T |
C |
14: 57,001,660 (GRCm39) |
*59W |
probably null |
Het |
Ptprq |
T |
C |
10: 107,444,102 (GRCm39) |
T1501A |
probably damaging |
Het |
Rorb |
G |
T |
19: 18,929,614 (GRCm39) |
P304T |
possibly damaging |
Het |
Scn7a |
A |
T |
2: 66,514,444 (GRCm39) |
L1110Q |
probably damaging |
Het |
Serpine2 |
C |
T |
1: 79,780,847 (GRCm39) |
|
probably null |
Het |
Slco1c1 |
A |
G |
6: 141,477,170 (GRCm39) |
|
probably null |
Het |
Smarca2 |
T |
A |
19: 26,608,331 (GRCm39) |
V130D |
probably damaging |
Het |
Sox17 |
G |
T |
1: 4,562,655 (GRCm39) |
P117T |
possibly damaging |
Het |
Sparcl1 |
A |
T |
5: 104,240,310 (GRCm39) |
Y371* |
probably null |
Het |
Tdpoz2 |
T |
C |
3: 93,559,267 (GRCm39) |
D235G |
possibly damaging |
Het |
Tns2 |
A |
C |
15: 102,022,269 (GRCm39) |
K1182N |
possibly damaging |
Het |
Tpte |
G |
T |
8: 22,805,121 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
T |
2: 76,799,503 (GRCm39) |
I459K |
possibly damaging |
Het |
Wdr97 |
T |
C |
15: 76,242,478 (GRCm39) |
Y823H |
probably benign |
Het |
Zc3h15 |
G |
A |
2: 83,491,492 (GRCm39) |
R240H |
probably benign |
Het |
Zfp455 |
C |
A |
13: 67,355,121 (GRCm39) |
L130I |
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 |
R5819:Zfp777
|
UTSW |
6 |
48,014,522 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- TCTCAGGAACCTCAGGAGAGTG -3'
(R):5'- TTGAACACAGGTCCAGCAGC -3'
Sequencing Primer
(F):5'- AGTGGAGCTTCCTGACGG -3'
(R):5'- ACATGGAGGACGATCGCTC -3'
|
Posted On |
2018-06-06 |