Incidental Mutation 'R8136:Zfp777'
| ID |
632255 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp777
|
| Ensembl Gene |
ENSMUSG00000071477 |
| Gene Name |
zinc finger protein 777 |
| Synonyms |
2500002G23Rik |
| MMRRC Submission |
067564-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.872)
|
| Stock # |
R8136 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
48001122-48025845 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 48021559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 21
(R21L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093637
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095944]
[ENSMUST00000114583]
[ENSMUST00000125385]
[ENSMUST00000147281]
|
| AlphaFold |
B9EKF4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095944
AA Change: R21L
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000093637
Gene: ENSMUSG00000071477
AA Change: R21L
| 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 benign
Transcript: ENSMUST00000114583
AA Change: R65L
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000110230
Gene: ENSMUSG00000071477
AA Change: R65L
| 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: R21L
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147281
AA Change: R21L
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.9%
- 20x: 96.7%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,287,556 (GRCm39) |
M2462L |
probably benign |
Het |
| Aptx |
A |
G |
4: 40,688,107 (GRCm39) |
|
probably null |
Het |
| Bmpr1b |
A |
G |
3: 141,562,143 (GRCm39) |
I348T |
probably damaging |
Het |
| Btnl1 |
T |
A |
17: 34,599,014 (GRCm39) |
|
probably null |
Het |
| Col27a1 |
T |
A |
4: 63,202,190 (GRCm39) |
D960E |
probably benign |
Het |
| Crygn |
G |
T |
5: 24,956,090 (GRCm39) |
R172S |
probably benign |
Het |
| Cyp26a1 |
T |
C |
19: 37,689,654 (GRCm39) |
I450T |
probably benign |
Het |
| Emc2 |
A |
G |
15: 43,375,202 (GRCm39) |
Y233C |
probably benign |
Het |
| Esyt2 |
C |
A |
12: 116,327,079 (GRCm39) |
T549K |
probably benign |
Het |
| Garin5a |
T |
C |
7: 44,149,704 (GRCm39) |
F142L |
probably damaging |
Het |
| Gatm |
T |
C |
2: 122,426,018 (GRCm39) |
D411G |
probably damaging |
Het |
| Gpr65 |
T |
C |
12: 98,241,415 (GRCm39) |
Y23H |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,415,321 (GRCm39) |
R1752G |
probably benign |
Het |
| Krtap4-1 |
GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC |
GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC |
11: 99,518,660 (GRCm39) |
|
probably benign |
Het |
| Map3k19 |
A |
C |
1: 127,751,492 (GRCm39) |
S620A |
probably damaging |
Het |
| Mcm9 |
A |
G |
10: 53,487,439 (GRCm39) |
*543Q |
probably null |
Het |
| Mfsd2a |
A |
T |
4: 122,845,660 (GRCm39) |
C164S |
probably benign |
Het |
| Mta1 |
C |
A |
12: 113,095,298 (GRCm39) |
R484S |
probably damaging |
Het |
| Nlrp9a |
T |
G |
7: 26,256,678 (GRCm39) |
F99V |
probably benign |
Het |
| Notch2 |
G |
A |
3: 98,031,537 (GRCm39) |
C1137Y |
probably damaging |
Het |
| Or51a6 |
A |
T |
7: 102,604,448 (GRCm39) |
M120K |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 81,964,780 (GRCm39) |
T316A |
probably benign |
Het |
| Peds1 |
A |
C |
2: 167,486,879 (GRCm39) |
Y167D |
probably benign |
Het |
| Phf11a |
A |
G |
14: 59,515,018 (GRCm39) |
V221A |
probably benign |
Het |
| Pigb |
A |
G |
9: 72,929,602 (GRCm39) |
L327P |
possibly damaging |
Het |
| Rab3c |
A |
T |
13: 110,317,554 (GRCm39) |
Y110* |
probably null |
Het |
| Sdk2 |
G |
A |
11: 113,742,539 (GRCm39) |
T790M |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,261,222 (GRCm39) |
K131R |
probably benign |
Het |
| Slc22a2 |
C |
T |
17: 12,824,917 (GRCm39) |
P260S |
probably damaging |
Het |
| Sppl2a |
T |
C |
2: 126,755,201 (GRCm39) |
|
probably null |
Het |
| Tnn |
T |
A |
1: 159,934,630 (GRCm39) |
Q1261L |
probably damaging |
Het |
| Treml4 |
C |
A |
17: 48,571,745 (GRCm39) |
Y49* |
probably null |
Het |
| Ubr3 |
T |
C |
2: 69,851,523 (GRCm39) |
I1827T |
probably damaging |
Het |
| Vrtn |
C |
T |
12: 84,696,809 (GRCm39) |
R520C |
probably damaging |
Het |
| Wipf1 |
G |
A |
2: 73,267,879 (GRCm39) |
P173L |
possibly damaging |
Het |
| Wls |
C |
A |
3: 159,578,761 (GRCm39) |
Q108K |
probably damaging |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zfp39 |
A |
T |
11: 58,782,228 (GRCm39) |
V178D |
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 |
|
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 |
|
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'- GTCTTGCTCAGAAGTGGCAG -3'
(R):5'- TCTTCTTGCTTCCAAAACTGAGAAC -3'
Sequencing Primer
(F):5'- TCTTGCTCAGAAGTGGCAGGATAC -3'
(R):5'- CTGAGAACCTTTTAGTGTGAACGC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation