Incidental Mutation 'R9551:Zfp827'
| ID |
720495 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp827
|
| Ensembl Gene |
ENSMUSG00000071064 |
| Gene Name |
zinc finger protein 827 |
| Synonyms |
D630040G17Rik, 2810449M09Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.920)
|
| Stock # |
R9551 (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 G
at 79787403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Glycine
at position 190
(W190G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087927]
[ENSMUST00000098614]
[ENSMUST00000119254]
|
| AlphaFold |
Q505G8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087927
AA Change: W190G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000085238
Gene: ENSMUSG00000071064
AA Change: W190G
| 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: W190G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096214
Gene: ENSMUSG00000071064
AA Change: W190G
| 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: W190G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113199
Gene: ENSMUSG00000071064
AA Change: W190G
| 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 |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,916,064 (GRCm39) |
L1660Q |
probably benign |
Het |
| Blvrb |
A |
G |
7: 27,158,786 (GRCm39) |
D62G |
probably benign |
Het |
| Ccdc68 |
T |
A |
18: 70,089,113 (GRCm39) |
S219T |
probably damaging |
Het |
| Cep120 |
C |
A |
18: 53,819,033 (GRCm39) |
R886L |
possibly damaging |
Het |
| Cep290 |
T |
C |
10: 100,372,729 (GRCm39) |
S1176P |
probably damaging |
Het |
| Cnbp |
A |
G |
6: 87,822,108 (GRCm39) |
Y139H |
probably damaging |
Het |
| Csmd3 |
T |
A |
15: 48,655,356 (GRCm39) |
|
probably benign |
Het |
| Cyp2c66 |
T |
C |
19: 39,172,246 (GRCm39) |
V387A |
probably damaging |
Het |
| Dab2ip |
T |
A |
2: 35,605,330 (GRCm39) |
C504S |
possibly damaging |
Het |
| Depdc7 |
C |
T |
2: 104,553,220 (GRCm39) |
|
probably null |
Het |
| Edrf1 |
A |
G |
7: 133,240,742 (GRCm39) |
D73G |
probably damaging |
Het |
| Elp3 |
T |
C |
14: 65,797,634 (GRCm39) |
I365V |
probably benign |
Het |
| Erbb4 |
G |
A |
1: 68,779,642 (GRCm39) |
Q45* |
probably null |
Het |
| Fam124a |
T |
G |
14: 62,843,988 (GRCm39) |
S499A |
possibly damaging |
Het |
| Has2 |
T |
C |
15: 56,531,090 (GRCm39) |
K542E |
probably benign |
Het |
| Hnrnpk |
A |
G |
13: 58,544,058 (GRCm39) |
S116P |
probably benign |
Het |
| Hs3st6 |
T |
C |
17: 24,977,228 (GRCm39) |
L236P |
probably damaging |
Het |
| Il15 |
T |
A |
8: 83,061,177 (GRCm39) |
H100L |
probably benign |
Het |
| Kif14 |
C |
A |
1: 136,455,219 (GRCm39) |
S1630R |
probably damaging |
Het |
| Madd |
T |
C |
2: 91,000,434 (GRCm39) |
T544A |
probably damaging |
Het |
| Mamdc4 |
T |
C |
2: 25,460,035 (GRCm39) |
D76G |
probably damaging |
Het |
| Mark2 |
G |
T |
19: 7,263,263 (GRCm39) |
T201N |
possibly damaging |
Het |
| Mfsd9 |
T |
C |
1: 40,813,152 (GRCm39) |
T388A |
probably damaging |
Het |
| Mgst3 |
T |
C |
1: 167,205,871 (GRCm39) |
Y36C |
probably damaging |
Het |
| Myh11 |
T |
A |
16: 14,064,673 (GRCm39) |
E215V |
|
Het |
| Nmd3 |
T |
C |
3: 69,647,329 (GRCm39) |
V277A |
possibly damaging |
Het |
| Or11g1 |
C |
T |
14: 50,651,625 (GRCm39) |
S208F |
probably benign |
Het |
| Or2y14 |
C |
T |
11: 49,404,942 (GRCm39) |
T159I |
probably damaging |
Het |
| Or6k4 |
A |
T |
1: 173,964,885 (GRCm39) |
T192S |
probably benign |
Het |
| Pbx1 |
T |
C |
1: 168,258,910 (GRCm39) |
D55G |
possibly damaging |
Het |
| Pdzrn3 |
T |
C |
6: 101,127,855 (GRCm39) |
D937G |
probably damaging |
Het |
| Phb1 |
G |
A |
11: 95,562,257 (GRCm39) |
V45I |
probably benign |
Het |
| Pi4ka |
T |
C |
16: 17,125,574 (GRCm39) |
E1187G |
|
Het |
| Piezo2 |
T |
C |
18: 63,166,033 (GRCm39) |
E2066G |
possibly damaging |
Het |
| Pkn2 |
T |
C |
3: 142,499,594 (GRCm39) |
D977G |
probably damaging |
Het |
| Polr1b |
C |
T |
2: 128,957,684 (GRCm39) |
R580* |
probably null |
Het |
| Pyroxd2 |
A |
G |
19: 42,719,756 (GRCm39) |
|
probably null |
Het |
| Rpain |
T |
C |
11: 70,865,816 (GRCm39) |
S194P |
probably damaging |
Het |
| Scaf1 |
A |
G |
7: 44,658,351 (GRCm39) |
L176P |
probably damaging |
Het |
| Scgb1b12 |
C |
A |
7: 32,033,974 (GRCm39) |
A78E |
probably benign |
Het |
| Scgb2b19 |
A |
G |
7: 32,979,198 (GRCm39) |
F28S |
probably damaging |
Het |
| Setx |
T |
C |
2: 29,020,244 (GRCm39) |
M77T |
possibly damaging |
Het |
| Skint5 |
C |
T |
4: 113,798,052 (GRCm39) |
C177Y |
possibly damaging |
Het |
| Slco6c1 |
T |
C |
1: 97,055,827 (GRCm39) |
S25G |
probably benign |
Het |
| Sorbs1 |
G |
A |
19: 40,361,923 (GRCm39) |
R154* |
probably null |
Het |
| Ssb |
T |
A |
2: 69,696,982 (GRCm39) |
D107E |
probably benign |
Het |
| Tcerg1l |
T |
C |
7: 137,995,998 (GRCm39) |
D170G |
possibly damaging |
Het |
| Tle5 |
T |
C |
10: 81,399,988 (GRCm39) |
V62A |
probably damaging |
Het |
| Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
| Tmco4 |
G |
A |
4: 138,779,895 (GRCm39) |
V447M |
probably damaging |
Het |
| Trf |
C |
T |
9: 103,099,283 (GRCm39) |
V339I |
probably benign |
Het |
| Ucp1 |
T |
C |
8: 84,024,509 (GRCm39) |
L278P |
probably damaging |
Het |
| Vmn1r82 |
A |
G |
7: 12,039,600 (GRCm39) |
N291S |
possibly damaging |
Het |
| Vmn1r86 |
A |
T |
7: 12,836,781 (GRCm39) |
Y32N |
possibly damaging |
Het |
| Wnt10b |
C |
A |
15: 98,670,713 (GRCm39) |
G272W |
probably damaging |
Het |
| Xpo4 |
A |
G |
14: 57,828,512 (GRCm39) |
F783L |
possibly damaging |
Het |
| Yipf4 |
T |
C |
17: 74,806,024 (GRCm39) |
F221S |
probably damaging |
Het |
| Zfp1005 |
C |
A |
2: 150,109,856 (GRCm39) |
T182K |
unknown |
Het |
| Zfp512 |
G |
A |
5: 31,623,676 (GRCm39) |
C14Y |
probably benign |
Het |
| Zfp595 |
A |
T |
13: 67,465,067 (GRCm39) |
S402T |
probably damaging |
Het |
| Zfp658 |
G |
T |
7: 43,222,567 (GRCm39) |
V281F |
probably benign |
Het |
| Zpld2 |
G |
A |
4: 133,929,312 (GRCm39) |
P331L |
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 |
|
|
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 |
|
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'- CTGAGCAGCAATTTGAGGCG -3'
(R):5'- TCTTAGACAAGGCCGCCAAG -3'
Sequencing Primer
(F):5'- AGCAATTTGAGGCGGCTGC -3'
(R):5'- TGGAGCTGGCAGACTGC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation