Incidental Mutation 'R7754:Zfp827'
ID |
597444 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp827
|
Ensembl Gene |
ENSMUSG00000071064 |
Gene Name |
zinc finger protein 827 |
Synonyms |
D630040G17Rik, 2810449M09Rik |
MMRRC Submission |
045810-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.920)
|
Stock # |
R7754 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
79755066-79920395 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 79916958 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 511
(V511A)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098614]
[ENSMUST00000119254]
[ENSMUST00000148713]
|
AlphaFold |
Q505G8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000098614
|
SMART Domains |
Protein: ENSMUSP00000096214 Gene: ENSMUSG00000071064
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 benign
Transcript: ENSMUST00000119254
|
SMART Domains |
Protein: ENSMUSP00000113199 Gene: ENSMUSG00000071064
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: ENSMUST00000129613
|
SMART Domains |
Protein: ENSMUSP00000119511 Gene: ENSMUSG00000071064
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
35 |
57 |
1.64e-1 |
SMART |
ZnF_C2H2
|
67 |
90 |
7.89e0 |
SMART |
low complexity region
|
97 |
115 |
N/A |
INTRINSIC |
ZnF_C2H2
|
157 |
179 |
1.26e-2 |
SMART |
ZnF_C2H2
|
185 |
207 |
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 |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000120562 Gene: ENSMUSG00000071064 AA Change: V511A
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
31 |
53 |
2.4e-3 |
SMART |
ZnF_C2H2
|
59 |
81 |
4.72e-2 |
SMART |
ZnF_C2H2
|
111 |
133 |
1.64e-1 |
SMART |
ZnF_C2H2
|
143 |
166 |
7.89e0 |
SMART |
low complexity region
|
173 |
191 |
N/A |
INTRINSIC |
ZnF_C2H2
|
233 |
255 |
1.26e-2 |
SMART |
ZnF_C2H2
|
261 |
283 |
3.07e-1 |
SMART |
ZnF_C2H2
|
290 |
312 |
9.44e-2 |
SMART |
ZnF_C2H2
|
317 |
339 |
4.34e-1 |
SMART |
ZnF_C2H2
|
345 |
367 |
7.9e-4 |
SMART |
ZnF_C2H2
|
373 |
396 |
2.53e-2 |
SMART |
ZnF_C2H2
|
402 |
424 |
2.45e0 |
SMART |
low complexity region
|
444 |
466 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (66/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930553M12Rik |
A |
T |
4: 88,786,496 (GRCm39) |
W41R |
unknown |
Het |
Aatf |
G |
A |
11: 84,402,335 (GRCm39) |
S117L |
possibly damaging |
Het |
Abca12 |
C |
A |
1: 71,342,046 (GRCm39) |
V972L |
probably benign |
Het |
Abcb11 |
T |
A |
2: 69,117,162 (GRCm39) |
R495S |
probably damaging |
Het |
Acss2 |
T |
A |
2: 155,403,086 (GRCm39) |
H621Q |
probably benign |
Het |
Akap9 |
T |
C |
5: 4,096,736 (GRCm39) |
L2537P |
probably benign |
Het |
Apbb1 |
C |
T |
7: 105,208,509 (GRCm39) |
A597T |
probably damaging |
Het |
Cacna1d |
A |
T |
14: 29,797,809 (GRCm39) |
I1448N |
probably damaging |
Het |
Cacna1e |
C |
T |
1: 154,288,863 (GRCm39) |
E1841K |
probably damaging |
Het |
Ccdc162 |
G |
T |
10: 41,463,371 (GRCm39) |
P1457Q |
probably damaging |
Het |
Cep70 |
A |
G |
9: 99,163,145 (GRCm39) |
K331E |
probably damaging |
Het |
Cplane1 |
C |
A |
15: 8,273,310 (GRCm39) |
Q2534K |
possibly damaging |
Het |
Cstpp1 |
A |
T |
2: 91,135,188 (GRCm39) |
|
probably null |
Het |
D430041D05Rik |
A |
T |
2: 104,087,504 (GRCm39) |
Y491N |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,002,703 (GRCm39) |
I3898V |
probably benign |
Het |
Drd2 |
A |
G |
9: 49,316,277 (GRCm39) |
T346A |
probably benign |
Het |
Efcab9 |
T |
C |
11: 32,472,941 (GRCm39) |
T169A |
possibly damaging |
Het |
Fam163a |
A |
T |
1: 155,955,729 (GRCm39) |
I21N |
probably damaging |
Het |
Fam171a2 |
C |
T |
11: 102,329,389 (GRCm39) |
D457N |
probably benign |
Het |
Fbn1 |
A |
T |
2: 125,321,200 (GRCm39) |
|
probably null |
Het |
Gpr37 |
A |
T |
6: 25,689,049 (GRCm39) |
L16H |
probably damaging |
Het |
Gtf3c2 |
T |
C |
5: 31,330,175 (GRCm39) |
D265G |
probably benign |
Het |
Idh1 |
G |
T |
1: 65,198,649 (GRCm39) |
A407D |
probably benign |
Het |
Ifna12 |
A |
G |
4: 88,521,415 (GRCm39) |
M44T |
probably damaging |
Het |
Il22ra1 |
A |
G |
4: 135,461,561 (GRCm39) |
M109V |
probably benign |
Het |
Jag2 |
A |
T |
12: 112,879,089 (GRCm39) |
|
probably null |
Het |
Lca5l |
T |
C |
16: 95,960,761 (GRCm39) |
D572G |
unknown |
Het |
Lcn11 |
G |
A |
2: 25,667,830 (GRCm39) |
V73I |
probably benign |
Het |
Lrba |
A |
G |
3: 86,352,704 (GRCm39) |
T1951A |
probably damaging |
Het |
Ltbp2 |
A |
G |
12: 84,860,012 (GRCm39) |
|
probably null |
Het |
Malrd1 |
G |
A |
2: 15,802,610 (GRCm39) |
|
probably null |
Het |
Morc2b |
C |
A |
17: 33,356,218 (GRCm39) |
G518V |
probably benign |
Het |
Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
Myo5b |
A |
T |
18: 74,767,630 (GRCm39) |
T313S |
probably benign |
Het |
Neto2 |
C |
A |
8: 86,396,329 (GRCm39) |
L140F |
probably damaging |
Het |
Nlgn1 |
C |
T |
3: 25,488,467 (GRCm39) |
V623I |
probably damaging |
Het |
Optc |
A |
G |
1: 133,834,730 (GRCm39) |
S15P |
possibly damaging |
Het |
Or1e25 |
C |
T |
11: 73,494,332 (GRCm39) |
Q309* |
probably null |
Het |
Or1l4b |
A |
G |
2: 37,036,858 (GRCm39) |
I211M |
possibly damaging |
Het |
Or52e19b |
C |
A |
7: 103,032,945 (GRCm39) |
W88L |
probably damaging |
Het |
Or7c19 |
T |
A |
8: 85,957,427 (GRCm39) |
M101K |
possibly damaging |
Het |
Or9k2 |
T |
G |
10: 129,998,698 (GRCm39) |
T166P |
probably damaging |
Het |
Otogl |
A |
G |
10: 107,705,407 (GRCm39) |
V640A |
probably damaging |
Het |
Pcdhgb2 |
T |
C |
18: 37,823,023 (GRCm39) |
S5P |
probably benign |
Het |
Pde3a |
A |
T |
6: 141,404,975 (GRCm39) |
E400V |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,449,804 (GRCm39) |
I3856V |
possibly damaging |
Het |
Pld2 |
G |
A |
11: 70,443,695 (GRCm39) |
|
probably null |
Het |
Plxna4 |
G |
T |
6: 32,129,807 (GRCm39) |
H1839N |
probably damaging |
Het |
Ppp6r2 |
T |
C |
15: 89,140,904 (GRCm39) |
V89A |
probably benign |
Het |
Rapgef3 |
T |
C |
15: 97,655,627 (GRCm39) |
D420G |
probably damaging |
Het |
Rnf17 |
T |
A |
14: 56,699,529 (GRCm39) |
|
probably null |
Het |
Rps6ka2 |
T |
A |
17: 7,544,848 (GRCm39) |
|
probably null |
Het |
Rptn |
A |
T |
3: 93,303,228 (GRCm39) |
D187V |
probably damaging |
Het |
Rtn1 |
T |
C |
12: 72,355,203 (GRCm39) |
K248E |
probably damaging |
Het |
Rtn4rl1 |
A |
T |
11: 75,155,871 (GRCm39) |
H101L |
probably benign |
Het |
Septin3 |
A |
G |
15: 82,174,974 (GRCm39) |
N305S |
probably benign |
Het |
Serpina3f |
G |
T |
12: 104,183,565 (GRCm39) |
K142N |
possibly damaging |
Het |
Ssh1 |
C |
A |
5: 114,104,295 (GRCm39) |
R116L |
probably benign |
Het |
Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
Tlr6 |
T |
C |
5: 65,111,693 (GRCm39) |
K405E |
possibly damaging |
Het |
Trbv13-2 |
G |
A |
6: 41,098,634 (GRCm39) |
A70T |
probably benign |
Het |
Ttn |
A |
T |
2: 76,618,540 (GRCm39) |
I16248N |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,655,849 (GRCm39) |
|
probably null |
Het |
Vldlr |
A |
T |
19: 27,195,015 (GRCm39) |
M1L |
probably benign |
Het |
Wscd1 |
A |
G |
11: 71,675,191 (GRCm39) |
H366R |
probably damaging |
Het |
Zbtb8a |
A |
G |
4: 129,251,496 (GRCm39) |
|
probably null |
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 |
R7836:Zfp827
|
UTSW |
8 |
79,912,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R7995:Zfp827
|
UTSW |
8 |
79,844,887 (GRCm39) |
missense |
possibly damaging |
0.86 |
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'- CAAGAAAGGCCTGAGTCCAG -3'
(R):5'- TTTGGTACAGAACGCGGCTG -3'
Sequencing Primer
(F):5'- TGAGTCCAGCCTCCAGAGAG -3'
(R):5'- TACAGAACGCGGCTGTCCTC -3'
|
Posted On |
2019-11-26 |