Incidental Mutation 'R6497:Zfp827'
| ID |
523070 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp827
|
| Ensembl Gene |
ENSMUSG00000071064 |
| Gene Name |
zinc finger protein 827 |
| Synonyms |
D630040G17Rik, 2810449M09Rik |
| MMRRC Submission |
044629-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.912)
|
| Stock # |
R6497 (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 A
at 79906757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 923
(M923K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098614]
[ENSMUST00000119254]
[ENSMUST00000148713]
|
| AlphaFold |
Q505G8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098614
AA Change: M923K
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000096214
Gene: ENSMUSG00000071064
AA Change: M923K
| 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: M923K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113199
Gene: ENSMUSG00000071064
AA Change: M923K
| 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 |
unknown
Transcript: ENSMUST00000129613
AA Change: M63K
|
| SMART Domains |
Protein: ENSMUSP00000119511
Gene: ENSMUSG00000071064
AA Change: M63K
| 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 |
unknown
Transcript: ENSMUST00000145827
AA Change: M191K
|
| SMART Domains |
Protein: ENSMUSP00000114208
Gene: ENSMUSG00000071064
AA Change: M191K
| 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
AA Change: M215K
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000120913
Gene: ENSMUSG00000071064
AA Change: M215K
| 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 |
unknown
Transcript: ENSMUST00000155960
AA Change: M139K
|
| SMART Domains |
Protein: ENSMUSP00000120562
Gene: ENSMUSG00000071064
AA Change: M139K
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211475
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.5%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
A |
19: 43,793,544 (GRCm39) |
Y399N |
probably damaging |
Het |
| Acsm3 |
G |
A |
7: 119,379,972 (GRCm39) |
|
probably null |
Het |
| Aldh16a1 |
T |
A |
7: 44,794,361 (GRCm39) |
S556C |
possibly damaging |
Het |
| Armc7 |
T |
C |
11: 115,367,077 (GRCm39) |
I74T |
probably benign |
Het |
| Atp13a4 |
T |
C |
16: 29,298,719 (GRCm39) |
D80G |
probably damaging |
Het |
| Bicral |
A |
T |
17: 47,136,499 (GRCm39) |
I237K |
probably damaging |
Het |
| Caskin1 |
T |
C |
17: 24,723,522 (GRCm39) |
V770A |
probably benign |
Het |
| Cd209c |
T |
C |
8: 3,994,122 (GRCm39) |
K113E |
possibly damaging |
Het |
| Cdh20 |
G |
A |
1: 109,993,528 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
A |
T |
3: 144,465,020 (GRCm39) |
V71D |
possibly damaging |
Het |
| Cntnap5a |
T |
C |
1: 116,505,627 (GRCm39) |
L1228P |
probably damaging |
Het |
| Cntrl |
A |
G |
2: 35,025,584 (GRCm39) |
N85D |
possibly damaging |
Het |
| Coch |
G |
A |
12: 51,649,504 (GRCm39) |
V272M |
probably benign |
Het |
| Col22a1 |
T |
C |
15: 71,762,425 (GRCm39) |
E78G |
possibly damaging |
Het |
| Cyp2c66 |
T |
A |
19: 39,151,821 (GRCm39) |
C179S |
probably damaging |
Het |
| Dsg3 |
A |
G |
18: 20,670,305 (GRCm39) |
I681V |
probably benign |
Het |
| Egflam |
A |
T |
15: 7,280,784 (GRCm39) |
|
probably null |
Het |
| Fut10 |
T |
A |
8: 31,726,278 (GRCm39) |
D344E |
probably damaging |
Het |
| Gad2 |
C |
T |
2: 22,558,269 (GRCm39) |
P329L |
probably damaging |
Het |
| Gm14393 |
T |
C |
2: 174,903,427 (GRCm39) |
E160G |
possibly damaging |
Het |
| Gprc6a |
T |
C |
10: 51,491,797 (GRCm39) |
I476V |
probably benign |
Het |
| Limk2 |
A |
G |
11: 3,310,492 (GRCm39) |
F71L |
probably benign |
Het |
| Neb |
A |
T |
2: 52,148,301 (GRCm39) |
N2648K |
possibly damaging |
Het |
| Or51f5 |
T |
A |
7: 102,424,657 (GRCm39) |
F309I |
probably benign |
Het |
| Or52d1 |
T |
C |
7: 103,756,422 (GRCm39) |
|
probably benign |
Het |
| Or8d1b |
G |
A |
9: 38,887,490 (GRCm39) |
V173I |
probably benign |
Het |
| Pcdhgb7 |
T |
A |
18: 37,886,906 (GRCm39) |
V692E |
probably damaging |
Het |
| Pclo |
A |
C |
5: 14,843,869 (GRCm39) |
K4802Q |
unknown |
Het |
| Primpol |
A |
T |
8: 47,039,376 (GRCm39) |
|
probably null |
Het |
| Prr14 |
C |
T |
7: 127,073,750 (GRCm39) |
R205C |
probably benign |
Het |
| Rbm12b1 |
T |
C |
4: 12,146,431 (GRCm39) |
I801T |
probably benign |
Het |
| Ror2 |
A |
T |
13: 53,285,955 (GRCm39) |
N86K |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Sh2d4b |
A |
G |
14: 40,596,139 (GRCm39) |
V81A |
probably benign |
Het |
| Skint6 |
A |
G |
4: 113,093,595 (GRCm39) |
Y183H |
probably damaging |
Het |
| Snapc3 |
G |
T |
4: 83,371,363 (GRCm39) |
E388* |
probably null |
Het |
| Srrm4 |
A |
T |
5: 116,605,550 (GRCm39) |
S236T |
unknown |
Het |
| Srrt |
G |
T |
5: 137,295,768 (GRCm39) |
P193H |
probably damaging |
Het |
| Sspo |
A |
T |
6: 48,472,142 (GRCm39) |
T810S |
possibly damaging |
Het |
| Stk36 |
A |
G |
1: 74,642,391 (GRCm39) |
H6R |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,557,102 (GRCm39) |
T1181A |
probably damaging |
Het |
| Tmem184a |
A |
G |
5: 139,798,755 (GRCm39) |
F65L |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,333,841 (GRCm39) |
I1330M |
probably benign |
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 |
|
|
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 |
|
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'- AGGAAACCAGTGTTCTCCCG -3'
(R):5'- CTATCACGTGTGGCATGACAAC -3'
Sequencing Primer
(F):5'- CGCCCACTGTGTACCTGAG -3'
(R):5'- TGTCTGCAGCAAATTCCAGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation