Incidental Mutation 'IGL02451:Zfp827'
ID |
293651 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02451
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
79755066-79920395 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 79787601 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 256
(S256P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113199
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087927]
[ENSMUST00000098614]
[ENSMUST00000119254]
|
AlphaFold |
Q505G8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000087927
AA Change: S256P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000085238 Gene: ENSMUSG00000071064 AA Change: S256P
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 |
422 |
5.59e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098614
AA Change: S256P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000096214 Gene: ENSMUSG00000071064 AA Change: S256P
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: S256P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113199 Gene: ENSMUSG00000071064 AA Change: S256P
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700123K08Rik |
T |
G |
5: 138,561,809 (GRCm39) |
T126P |
probably damaging |
Het |
Asic2 |
T |
C |
11: 80,782,563 (GRCm39) |
|
probably benign |
Het |
B430305J03Rik |
A |
G |
3: 61,271,562 (GRCm39) |
|
probably benign |
Het |
Bbs7 |
A |
G |
3: 36,664,741 (GRCm39) |
F47L |
possibly damaging |
Het |
Bcl2l14 |
G |
T |
6: 134,400,804 (GRCm39) |
G75V |
probably benign |
Het |
Btnl4 |
T |
C |
17: 34,694,901 (GRCm39) |
H4R |
probably benign |
Het |
Champ1 |
C |
A |
8: 13,928,739 (GRCm39) |
P299Q |
probably damaging |
Het |
Cimap3 |
T |
A |
3: 105,921,820 (GRCm39) |
E34D |
probably benign |
Het |
Cldnd2 |
A |
G |
7: 43,091,082 (GRCm39) |
K5E |
probably benign |
Het |
Ctr9 |
T |
A |
7: 110,642,631 (GRCm39) |
L401* |
probably null |
Het |
Cyp2c29 |
G |
A |
19: 39,279,291 (GRCm39) |
G96D |
possibly damaging |
Het |
Enpp4 |
A |
T |
17: 44,412,315 (GRCm39) |
L298H |
probably damaging |
Het |
Git1 |
T |
C |
11: 77,391,513 (GRCm39) |
C222R |
possibly damaging |
Het |
Gpam |
T |
C |
19: 55,076,635 (GRCm39) |
T189A |
probably damaging |
Het |
Hgfac |
T |
G |
5: 35,201,158 (GRCm39) |
|
probably null |
Het |
Hivep3 |
T |
A |
4: 119,991,162 (GRCm39) |
S2221T |
probably damaging |
Het |
Ifi47 |
T |
C |
11: 48,986,604 (GRCm39) |
Y124H |
probably damaging |
Het |
Il1a |
T |
C |
2: 129,148,575 (GRCm39) |
E45G |
probably damaging |
Het |
Itga11 |
T |
A |
9: 62,642,635 (GRCm39) |
I186N |
probably damaging |
Het |
Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
Mapk13 |
A |
G |
17: 28,995,387 (GRCm39) |
T203A |
probably damaging |
Het |
Mrpl37 |
T |
A |
4: 106,923,839 (GRCm39) |
I52F |
probably damaging |
Het |
Mtrex |
C |
T |
13: 113,027,881 (GRCm39) |
V660M |
probably damaging |
Het |
Nr1i2 |
A |
G |
16: 38,069,654 (GRCm39) |
F417L |
probably benign |
Het |
Or10ag59 |
T |
A |
2: 87,405,576 (GRCm39) |
S49R |
probably benign |
Het |
Or6c215 |
G |
A |
10: 129,637,702 (GRCm39) |
Q231* |
probably null |
Het |
Osbpl1a |
T |
C |
18: 13,047,550 (GRCm39) |
|
probably benign |
Het |
Parg |
C |
T |
14: 31,964,186 (GRCm39) |
T112M |
probably damaging |
Het |
Pou6f1 |
T |
C |
15: 100,477,821 (GRCm39) |
T166A |
possibly damaging |
Het |
Prtg |
A |
G |
9: 72,764,281 (GRCm39) |
I585V |
possibly damaging |
Het |
Ptpru |
T |
G |
4: 131,504,086 (GRCm39) |
|
probably benign |
Het |
Rab6a |
T |
C |
7: 100,285,970 (GRCm39) |
|
probably null |
Het |
Rnf207 |
C |
T |
4: 152,396,869 (GRCm39) |
R425H |
probably benign |
Het |
Rusf1 |
A |
G |
7: 127,875,582 (GRCm39) |
L257P |
probably damaging |
Het |
Slc27a2 |
A |
G |
2: 126,420,912 (GRCm39) |
M468V |
probably benign |
Het |
Slc30a1 |
A |
G |
1: 191,639,441 (GRCm39) |
H108R |
possibly damaging |
Het |
Sned1 |
A |
G |
1: 93,163,930 (GRCm39) |
|
probably benign |
Het |
Sptbn4 |
A |
T |
7: 27,065,014 (GRCm39) |
F2095Y |
probably null |
Het |
Sspo |
A |
T |
6: 48,437,237 (GRCm39) |
|
probably benign |
Het |
Tbx19 |
A |
G |
1: 164,967,740 (GRCm39) |
S336P |
probably benign |
Het |
Tmem101 |
T |
A |
11: 102,044,119 (GRCm39) |
D256V |
probably damaging |
Het |
Trbv20 |
T |
G |
6: 41,165,210 (GRCm39) |
L2V |
unknown |
Het |
Trpc7 |
A |
G |
13: 56,970,274 (GRCm39) |
S382P |
probably damaging |
Het |
Tut4 |
C |
A |
4: 108,386,473 (GRCm39) |
Y1114* |
probably null |
Het |
Uhmk1 |
T |
C |
1: 170,040,095 (GRCm39) |
T91A |
possibly damaging |
Het |
Vmn2r10 |
T |
A |
5: 109,143,788 (GRCm39) |
R721* |
probably null |
Het |
Vmn2r94 |
T |
A |
17: 18,478,453 (GRCm39) |
Y98F |
possibly damaging |
Het |
Zfp532 |
A |
G |
18: 65,756,672 (GRCm39) |
R202G |
probably damaging |
Het |
Zzef1 |
T |
C |
11: 72,792,214 (GRCm39) |
I2266T |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |