Incidental Mutation 'R7708:Zfp827'
| ID |
594404 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp827
|
| Ensembl Gene |
ENSMUSG00000071064 |
| Gene Name |
zinc finger protein 827 |
| Synonyms |
D630040G17Rik, 2810449M09Rik |
| MMRRC Submission |
045709-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.920)
|
| Stock # |
R7708 (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 79902591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 835
(L835S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098614]
[ENSMUST00000119254]
[ENSMUST00000148713]
|
| AlphaFold |
Q505G8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098614
AA Change: L835S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096214
Gene: ENSMUSG00000071064
AA Change: L835S
| 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: L835S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113199
Gene: ENSMUSG00000071064
AA Change: L835S
| 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
AA Change: L97S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000114208
Gene: ENSMUSG00000071064
AA Change: L97S
| 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 damaging
Transcript: ENSMUST00000148713
AA Change: L127S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120913
Gene: ENSMUSG00000071064
AA Change: L127S
| 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 |
probably benign
Transcript: ENSMUST00000155960
AA Change: L51S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000120562
Gene: ENSMUSG00000071064
AA Change: L51S
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (46/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
A |
G |
3: 59,772,756 (GRCm39) |
S87G |
probably benign |
Het |
| Adam24 |
A |
G |
8: 41,133,558 (GRCm39) |
H342R |
probably damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,616,306 (GRCm39) |
D317N |
probably damaging |
Het |
| Asap1 |
T |
C |
15: 64,024,721 (GRCm39) |
Y315C |
probably damaging |
Het |
| Atp10b |
C |
A |
11: 43,092,970 (GRCm39) |
T435K |
probably damaging |
Het |
| AW551984 |
A |
T |
9: 39,505,051 (GRCm39) |
F480L |
probably benign |
Het |
| Bspry |
G |
T |
4: 62,414,337 (GRCm39) |
C310F |
probably benign |
Het |
| Camk2d |
A |
T |
3: 126,391,089 (GRCm39) |
M1L |
probably benign |
Het |
| Clock |
T |
A |
5: 76,414,256 (GRCm39) |
S19C |
probably benign |
Het |
| Cxxc1 |
G |
T |
18: 74,349,314 (GRCm39) |
|
probably benign |
Het |
| Efcab3 |
G |
C |
11: 104,855,397 (GRCm39) |
D3816H |
unknown |
Het |
| Ercc6l2 |
T |
A |
13: 63,989,328 (GRCm39) |
C176* |
probably null |
Het |
| Fkbp5 |
A |
G |
17: 28,657,071 (GRCm39) |
F49L |
probably benign |
Het |
| Gm15130 |
T |
A |
2: 110,974,962 (GRCm39) |
D67V |
|
Het |
| Gpatch2 |
A |
G |
1: 186,964,963 (GRCm39) |
I297V |
probably benign |
Het |
| Gpr135 |
T |
G |
12: 72,116,733 (GRCm39) |
I345L |
probably benign |
Het |
| Gpr89 |
G |
A |
3: 96,787,941 (GRCm39) |
T271I |
possibly damaging |
Het |
| Hip1r |
T |
A |
5: 124,135,532 (GRCm39) |
S503T |
possibly damaging |
Het |
| Hivep1 |
T |
A |
13: 42,317,753 (GRCm39) |
C2076* |
probably null |
Het |
| Hoxa2 |
A |
G |
6: 52,141,542 (GRCm39) |
V28A |
probably damaging |
Het |
| Inf2 |
T |
C |
12: 112,573,991 (GRCm39) |
V765A |
unknown |
Het |
| Krt87 |
T |
C |
15: 101,385,813 (GRCm39) |
M261V |
probably benign |
Het |
| Mtmr7 |
A |
G |
8: 41,043,554 (GRCm39) |
Y166H |
probably damaging |
Het |
| Nuak2 |
T |
C |
1: 132,252,770 (GRCm39) |
M108T |
possibly damaging |
Het |
| Or4f52 |
T |
C |
2: 111,061,863 (GRCm39) |
I92V |
probably damaging |
Het |
| Or52e19 |
T |
C |
7: 102,959,768 (GRCm39) |
L280P |
probably damaging |
Het |
| Or5p80 |
C |
T |
7: 108,230,048 (GRCm39) |
P283L |
probably damaging |
Het |
| Or6k6 |
A |
G |
1: 173,945,300 (GRCm39) |
M94T |
probably damaging |
Het |
| Or8b1c |
A |
T |
9: 38,384,681 (GRCm39) |
T213S |
probably damaging |
Het |
| Or8s16 |
A |
T |
15: 98,211,029 (GRCm39) |
M134K |
probably damaging |
Het |
| Orm3 |
A |
T |
4: 63,276,050 (GRCm39) |
E154V |
probably damaging |
Het |
| Pcdhga2 |
T |
A |
18: 37,804,496 (GRCm39) |
I780N |
possibly damaging |
Het |
| Phf21a |
T |
C |
2: 92,157,511 (GRCm39) |
|
probably null |
Het |
| Polh |
G |
T |
17: 46,483,626 (GRCm39) |
D546E |
probably benign |
Het |
| Ptprr |
A |
G |
10: 115,998,502 (GRCm39) |
D204G |
probably benign |
Het |
| Pxdn |
C |
T |
12: 30,056,601 (GRCm39) |
L1271F |
probably damaging |
Het |
| Rpl7l1 |
A |
G |
17: 47,090,271 (GRCm39) |
V121A |
possibly damaging |
Het |
| Rreb1 |
A |
G |
13: 38,113,546 (GRCm39) |
T302A |
probably benign |
Het |
| Scn3a |
C |
T |
2: 65,313,512 (GRCm39) |
V1134I |
possibly damaging |
Het |
| Slc10a6 |
C |
T |
5: 103,777,128 (GRCm39) |
|
probably benign |
Het |
| Tmprss11f |
C |
T |
5: 86,672,028 (GRCm39) |
G388D |
probably damaging |
Het |
| Tnf |
A |
C |
17: 35,419,134 (GRCm39) |
V232G |
possibly damaging |
Het |
| Trappc13 |
C |
T |
13: 104,283,845 (GRCm39) |
G302D |
probably benign |
Het |
| Trbj1-7 |
T |
G |
6: 41,512,617 (GRCm39) |
Y14* |
probably null |
Het |
| Vmn1r217 |
T |
C |
13: 23,298,269 (GRCm39) |
H211R |
probably benign |
Het |
| Vmn2r69 |
T |
A |
7: 85,061,755 (GRCm39) |
H73L |
possibly 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 |
|
|
|
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'- TGCCTCTGATGAAATCTTCAGGG -3'
(R):5'- CATAGAAAAGCTTTTCCAGGGTCTC -3'
Sequencing Primer
(F):5'- GGGTTGGCTAAATCCCATGAATTCC -3'
(R):5'- CATTTACATGTGCCAGGCAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation