Incidental Mutation 'R7995:Zfp827'
| ID |
616031 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp827
|
| Ensembl Gene |
ENSMUSG00000071064 |
| Gene Name |
zinc finger protein 827 |
| Synonyms |
D630040G17Rik, 2810449M09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.920)
|
| Stock # |
R7995 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
79755066-79920395 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79844887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 686
(S686T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098614]
[ENSMUST00000119254]
[ENSMUST00000148713]
|
| AlphaFold |
Q505G8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098614
AA Change: S686T
PolyPhen 2
Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000096214
Gene: ENSMUSG00000071064
AA Change: S686T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
102 |
128 |
N/A |
INTRINSIC |
|
low complexity region
|
226 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
298 |
N/A |
INTRINSIC |
|
low complexity region
|
306 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
348 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
371 |
393 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
399 |
421 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
430 |
452 |
5.42e-2 |
SMART |
|
internal_repeat_2
|
561 |
585 |
3.31e-7 |
PROSPERO |
|
low complexity region
|
613 |
627 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
719 |
743 |
3.31e-7 |
PROSPERO |
|
ZnF_C2H2
|
814 |
836 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
842 |
864 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
894 |
916 |
1.64e-1 |
SMART |
|
ZnF_C2H2
|
926 |
949 |
7.89e0 |
SMART |
|
low complexity region
|
956 |
974 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1016 |
1038 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
1044 |
1066 |
3.07e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119254
AA Change: S686T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113199
Gene: ENSMUSG00000071064
AA Change: S686T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
102 |
128 |
N/A |
INTRINSIC |
|
low complexity region
|
226 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
298 |
N/A |
INTRINSIC |
|
low complexity region
|
306 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
348 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
371 |
393 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
399 |
421 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
430 |
452 |
5.42e-2 |
SMART |
|
internal_repeat_2
|
561 |
585 |
3.25e-7 |
PROSPERO |
|
low complexity region
|
613 |
627 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
719 |
743 |
3.25e-7 |
PROSPERO |
|
ZnF_C2H2
|
814 |
836 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
842 |
864 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
894 |
916 |
1.64e-1 |
SMART |
|
ZnF_C2H2
|
926 |
949 |
7.89e0 |
SMART |
|
low complexity region
|
956 |
974 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1016 |
1038 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
1044 |
1066 |
3.07e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145827
|
| SMART Domains |
Protein: ENSMUSP00000114208
Gene: ENSMUSG00000071064
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
77 |
99 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
111 |
133 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
163 |
185 |
1.64e-1 |
SMART |
|
ZnF_C2H2
|
195 |
218 |
7.89e0 |
SMART |
|
low complexity region
|
225 |
243 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
285 |
307 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
313 |
335 |
3.07e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148713
|
| SMART Domains |
Protein: ENSMUSP00000120913
Gene: ENSMUSG00000071064
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
106 |
128 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
134 |
156 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
186 |
208 |
1.64e-1 |
SMART |
|
ZnF_C2H2
|
218 |
241 |
7.89e0 |
SMART |
|
low complexity region
|
248 |
266 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
308 |
330 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
336 |
358 |
3.07e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
A |
3: 124,350,528 (GRCm39) |
T137S |
unknown |
Het |
| Apbb1 |
T |
C |
7: 105,214,852 (GRCm39) |
D462G |
probably benign |
Het |
| Arhgef1 |
T |
G |
7: 24,618,641 (GRCm39) |
L387R |
probably damaging |
Het |
| Ass1 |
A |
G |
2: 31,376,552 (GRCm39) |
I139V |
probably benign |
Het |
| B4galt5 |
A |
G |
2: 167,143,296 (GRCm39) |
V376A |
probably damaging |
Het |
| Bdkrb1 |
A |
G |
12: 105,571,379 (GRCm39) |
N315S |
probably damaging |
Het |
| Brap |
A |
T |
5: 121,820,909 (GRCm39) |
I429L |
probably benign |
Het |
| Capn2 |
A |
G |
1: 182,306,111 (GRCm39) |
|
probably null |
Het |
| Car10 |
A |
G |
11: 93,487,948 (GRCm39) |
Y215C |
probably damaging |
Het |
| Ccdc102a |
T |
C |
8: 95,634,495 (GRCm39) |
T365A |
probably damaging |
Het |
| Cdc42ep1 |
A |
G |
15: 78,731,696 (GRCm39) |
H47R |
probably damaging |
Het |
| Celsr3 |
G |
A |
9: 108,722,282 (GRCm39) |
S2734N |
probably damaging |
Het |
| Cers5 |
A |
C |
15: 99,638,823 (GRCm39) |
|
probably null |
Het |
| Cfap43 |
T |
C |
19: 47,886,462 (GRCm39) |
E51G |
probably damaging |
Het |
| Cftr |
T |
A |
6: 18,214,155 (GRCm39) |
D110E |
probably damaging |
Het |
| Cimap2 |
T |
A |
4: 106,473,112 (GRCm39) |
H57L |
probably benign |
Het |
| Cntnap5a |
A |
G |
1: 116,499,277 (GRCm39) |
K1176E |
probably damaging |
Het |
| Dlx6 |
A |
T |
6: 6,867,277 (GRCm39) |
R293S |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,411,563 (GRCm39) |
F353Y |
possibly damaging |
Het |
| Dnajc13 |
A |
T |
9: 104,051,562 (GRCm39) |
I1765N |
probably damaging |
Het |
| Ercc6 |
G |
T |
14: 32,284,526 (GRCm39) |
R763L |
probably damaging |
Het |
| Furin |
T |
C |
7: 80,045,195 (GRCm39) |
N243S |
probably damaging |
Het |
| Hace1 |
A |
G |
10: 45,465,588 (GRCm39) |
E48G |
probably damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,972,743 (GRCm39) |
T380I |
probably damaging |
Het |
| Klk4 |
T |
A |
7: 43,533,010 (GRCm39) |
I32N |
probably damaging |
Het |
| Lingo2 |
T |
C |
4: 35,709,425 (GRCm39) |
E185G |
probably damaging |
Het |
| Lrba |
T |
A |
3: 86,526,858 (GRCm39) |
W2239R |
probably damaging |
Het |
| Mical2 |
T |
A |
7: 111,980,975 (GRCm39) |
D316E |
probably benign |
Het |
| Mlh1 |
G |
T |
9: 111,064,989 (GRCm39) |
N555K |
probably damaging |
Het |
| Mroh2b |
G |
A |
15: 4,950,839 (GRCm39) |
W579* |
probably null |
Het |
| Mycs |
G |
A |
X: 5,380,858 (GRCm39) |
P74L |
probably damaging |
Het |
| Or5p62 |
A |
T |
7: 107,771,207 (GRCm39) |
L248H |
probably damaging |
Het |
| Or6c1 |
T |
C |
10: 129,518,509 (GRCm39) |
Y33C |
probably damaging |
Het |
| Pak2 |
T |
C |
16: 31,846,590 (GRCm39) |
I365V |
possibly damaging |
Het |
| Pcdhga11 |
C |
A |
18: 37,890,078 (GRCm39) |
S362* |
probably null |
Het |
| Pdk4 |
C |
T |
6: 5,487,093 (GRCm39) |
V318M |
probably benign |
Het |
| Phc2 |
C |
T |
4: 128,603,401 (GRCm39) |
T177M |
probably damaging |
Het |
| Phldb1 |
A |
T |
9: 44,626,669 (GRCm39) |
L592Q |
probably damaging |
Het |
| Pigr |
A |
G |
1: 130,769,423 (GRCm39) |
Y78C |
probably damaging |
Het |
| Pnkp |
T |
A |
7: 44,507,960 (GRCm39) |
Y94* |
probably null |
Het |
| Polr2b |
T |
C |
5: 77,473,614 (GRCm39) |
V310A |
possibly damaging |
Het |
| Pramel21 |
A |
G |
4: 143,342,570 (GRCm39) |
I226V |
possibly damaging |
Het |
| Prl7d1 |
T |
A |
13: 27,894,054 (GRCm39) |
I171L |
probably benign |
Het |
| Rpusd4 |
A |
G |
9: 35,184,017 (GRCm39) |
Y224C |
probably damaging |
Het |
| Scara5 |
C |
A |
14: 65,997,057 (GRCm39) |
R390S |
possibly damaging |
Het |
| Scin |
C |
T |
12: 40,129,804 (GRCm39) |
V330I |
probably benign |
Het |
| Sdr42e1 |
T |
A |
8: 118,390,007 (GRCm39) |
R211S |
probably benign |
Het |
| Slc36a3 |
C |
A |
11: 55,020,495 (GRCm39) |
A292S |
probably benign |
Het |
| Spata31d1a |
T |
C |
13: 59,848,924 (GRCm39) |
D1068G |
probably benign |
Het |
| Srd5a1 |
T |
A |
13: 69,759,338 (GRCm39) |
D10V |
probably damaging |
Het |
| Sspo |
G |
T |
6: 48,469,823 (GRCm39) |
C4507F |
probably damaging |
Het |
| Tmem94 |
G |
A |
11: 115,688,797 (GRCm39) |
E1335K |
probably damaging |
Het |
| Tnfrsf13b |
C |
T |
11: 61,031,742 (GRCm39) |
Q28* |
probably null |
Het |
| Tspan3 |
A |
T |
9: 56,054,438 (GRCm39) |
F88I |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,592,519 (GRCm39) |
K20871R |
probably benign |
Het |
| Ube2j2 |
C |
A |
4: 156,041,795 (GRCm39) |
Y263* |
probably null |
Het |
| Vcan |
T |
C |
13: 89,839,977 (GRCm39) |
T1856A |
probably benign |
Het |
| Vrk3 |
T |
C |
7: 44,413,585 (GRCm39) |
L218P |
probably damaging |
Het |
| Zfp236 |
G |
T |
18: 82,657,461 (GRCm39) |
H761N |
probably damaging |
Het |
| Zfp462 |
C |
A |
4: 55,011,907 (GRCm39) |
A1291E |
probably damaging |
Het |
|
| Other mutations in Zfp827 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01448:Zfp827
|
APN |
8 |
79,787,362 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01545:Zfp827
|
APN |
8 |
79,797,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01552:Zfp827
|
APN |
8 |
79,802,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02261:Zfp827
|
APN |
8 |
79,906,708 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02451:Zfp827
|
APN |
8 |
79,787,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03130:Zfp827
|
APN |
8 |
79,787,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03411:Zfp827
|
APN |
8 |
79,803,116 (GRCm39) |
missense |
probably damaging |
0.99 |
|
E0354:Zfp827
|
UTSW |
8 |
79,863,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0502:Zfp827
|
UTSW |
8 |
79,905,706 (GRCm39) |
splice site |
probably null |
|
|
R0547:Zfp827
|
UTSW |
8 |
79,786,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0926:Zfp827
|
UTSW |
8 |
79,844,821 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0975:Zfp827
|
UTSW |
8 |
79,787,814 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1305:Zfp827
|
UTSW |
8 |
79,787,523 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1462:Zfp827
|
UTSW |
8 |
79,803,108 (GRCm39) |
missense |
probably benign |
|
|
R1462:Zfp827
|
UTSW |
8 |
79,803,108 (GRCm39) |
missense |
probably benign |
|
|
R1638:Zfp827
|
UTSW |
8 |
79,802,975 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1714:Zfp827
|
UTSW |
8 |
79,787,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2044:Zfp827
|
UTSW |
8 |
79,802,865 (GRCm39) |
missense |
probably benign |
|
|
R2132:Zfp827
|
UTSW |
8 |
79,912,350 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R3844:Zfp827
|
UTSW |
8 |
79,863,248 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4329:Zfp827
|
UTSW |
8 |
79,916,463 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4629:Zfp827
|
UTSW |
8 |
79,787,011 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4873:Zfp827
|
UTSW |
8 |
79,787,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4875:Zfp827
|
UTSW |
8 |
79,787,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4936:Zfp827
|
UTSW |
8 |
79,787,812 (GRCm39) |
missense |
probably benign |
|
|
R4965:Zfp827
|
UTSW |
8 |
79,787,910 (GRCm39) |
missense |
probably benign |
|
|
R5103:Zfp827
|
UTSW |
8 |
79,797,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5366:Zfp827
|
UTSW |
8 |
79,912,333 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5794:Zfp827
|
UTSW |
8 |
79,797,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5825:Zfp827
|
UTSW |
8 |
79,905,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6118:Zfp827
|
UTSW |
8 |
79,803,067 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6236:Zfp827
|
UTSW |
8 |
79,797,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6263:Zfp827
|
UTSW |
8 |
79,905,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6306:Zfp827
|
UTSW |
8 |
79,787,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6490:Zfp827
|
UTSW |
8 |
79,916,606 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6497:Zfp827
|
UTSW |
8 |
79,906,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7250:Zfp827
|
UTSW |
8 |
79,916,721 (GRCm39) |
missense |
|
|
|
R7290:Zfp827
|
UTSW |
8 |
79,916,442 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7443:Zfp827
|
UTSW |
8 |
79,917,047 (GRCm39) |
missense |
|
|
|
R7708:Zfp827
|
UTSW |
8 |
79,902,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7754:Zfp827
|
UTSW |
8 |
79,916,958 (GRCm39) |
missense |
|
|
|
R7836:Zfp827
|
UTSW |
8 |
79,912,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8162:Zfp827
|
UTSW |
8 |
79,787,206 (GRCm39) |
nonsense |
probably null |
|
|
R8747:Zfp827
|
UTSW |
8 |
79,755,316 (GRCm39) |
start codon destroyed |
probably null |
|
|
R8798:Zfp827
|
UTSW |
8 |
79,916,463 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R8980:Zfp827
|
UTSW |
8 |
79,803,092 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9099:Zfp827
|
UTSW |
8 |
79,917,107 (GRCm39) |
missense |
|
|
|
R9178:Zfp827
|
UTSW |
8 |
79,818,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9246:Zfp827
|
UTSW |
8 |
79,803,132 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9277:Zfp827
|
UTSW |
8 |
79,787,029 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9318:Zfp827
|
UTSW |
8 |
79,844,982 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9339:Zfp827
|
UTSW |
8 |
79,844,887 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9425:Zfp827
|
UTSW |
8 |
79,905,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9499:Zfp827
|
UTSW |
8 |
79,787,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9544:Zfp827
|
UTSW |
8 |
79,905,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9551:Zfp827
|
UTSW |
8 |
79,787,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9552:Zfp827
|
UTSW |
8 |
79,787,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9588:Zfp827
|
UTSW |
8 |
79,905,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9665:Zfp827
|
UTSW |
8 |
79,906,756 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATCTCGGGGTAGAGCATG -3'
(R):5'- CAATTCACCTACCCGAGAGCTG -3'
Sequencing Primer
(F):5'- TAGAGCATGTGCACCCCTTG -3'
(R):5'- TTCACCTACCCGAGAGCTGAAAAAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation