Incidental Mutation 'R9499:Zfp827'
ID |
717430 |
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 # |
R9499 (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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd6 |
T |
C |
14: 8,028,329 (GRCm38) |
I20T |
possibly damaging |
Het |
Apoa5 |
G |
C |
9: 46,181,944 (GRCm39) |
R340P |
probably damaging |
Het |
Arhgap21 |
A |
T |
2: 20,886,397 (GRCm39) |
V270E |
probably damaging |
Het |
Arhgef17 |
T |
C |
7: 100,526,102 (GRCm39) |
M851V |
possibly damaging |
Het |
Arhgef5 |
A |
T |
6: 43,260,940 (GRCm39) |
H1455L |
|
Het |
Birc6 |
T |
A |
17: 74,916,064 (GRCm39) |
L1660Q |
probably benign |
Het |
Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
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 |
Cyp2j7 |
C |
T |
4: 96,115,840 (GRCm39) |
R202H |
probably damaging |
Het |
Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
Depdc7 |
C |
T |
2: 104,553,220 (GRCm39) |
|
probably null |
Het |
Dnaaf11 |
T |
C |
15: 66,361,483 (GRCm39) |
E6G |
probably damaging |
Het |
Erbb4 |
G |
A |
1: 68,779,642 (GRCm39) |
Q45* |
probably null |
Het |
Ercc6 |
C |
T |
14: 32,284,525 (GRCm39) |
R763C |
probably damaging |
Het |
Gm14401 |
C |
T |
2: 176,778,337 (GRCm39) |
A141V |
probably benign |
Het |
Gm14496 |
A |
G |
2: 181,638,179 (GRCm39) |
K418E |
probably benign |
Het |
Gm8159 |
T |
A |
14: 15,850,264 (GRCm39) |
I161K |
probably damaging |
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 |
Inpp5f |
A |
T |
7: 128,295,437 (GRCm39) |
I744F |
possibly damaging |
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 |
Mbl2 |
G |
A |
19: 30,216,664 (GRCm39) |
A159T |
probably damaging |
Het |
Mfsd9 |
T |
C |
1: 40,813,152 (GRCm39) |
T388A |
probably damaging |
Het |
Mtor |
C |
T |
4: 148,599,397 (GRCm39) |
R1482C |
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 |
Nr2e1 |
A |
T |
10: 42,447,487 (GRCm39) |
M175K |
probably benign |
Het |
Nrxn1 |
T |
C |
17: 90,937,450 (GRCm39) |
K669R |
probably damaging |
Het |
Patl1 |
T |
A |
19: 11,897,728 (GRCm39) |
M105K |
possibly damaging |
Het |
Pck2 |
T |
A |
14: 55,780,081 (GRCm39) |
I110N |
probably 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 |
Plin1 |
T |
C |
7: 79,372,544 (GRCm39) |
N343D |
probably benign |
Het |
Polr1b |
C |
T |
2: 128,957,684 (GRCm39) |
R580* |
probably null |
Het |
Rexo5 |
A |
G |
7: 119,404,480 (GRCm39) |
E192G |
probably damaging |
Het |
Rpain |
T |
C |
11: 70,865,816 (GRCm39) |
S194P |
probably damaging |
Het |
Slco6c1 |
T |
C |
1: 97,055,827 (GRCm39) |
S25G |
probably benign |
Het |
Slitrk5 |
C |
T |
14: 111,916,496 (GRCm39) |
T40I |
probably benign |
Het |
Slu7 |
G |
A |
11: 43,329,095 (GRCm39) |
V106I |
probably benign |
Het |
Ssb |
T |
A |
2: 69,696,982 (GRCm39) |
D107E |
probably benign |
Het |
Stc2 |
A |
G |
11: 31,310,332 (GRCm39) |
S235P |
probably benign |
Het |
Sult2a8 |
A |
C |
7: 14,157,487 (GRCm39) |
V116G |
probably damaging |
Het |
Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
Tgm1 |
T |
C |
14: 55,950,933 (GRCm39) |
|
probably benign |
Het |
Tle5 |
T |
C |
10: 81,399,988 (GRCm39) |
V62A |
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 |
Vmn1r24 |
T |
A |
6: 57,933,150 (GRCm39) |
I123F |
possibly damaging |
Het |
Vmn2r9 |
T |
A |
5: 108,995,584 (GRCm39) |
N355Y |
probably 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 |
Zfp595 |
A |
T |
13: 67,465,067 (GRCm39) |
S402T |
probably damaging |
Het |
Zfp710 |
A |
G |
7: 79,731,621 (GRCm39) |
E266G |
probably damaging |
Het |
Zscan4c |
T |
C |
7: 10,740,853 (GRCm39) |
V124A |
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 |
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'- CTGAGCAGCAATTTGAGGC -3'
(R):5'- TTCTTAGACAAGGCCGCCAAG -3'
Sequencing Primer
(F):5'- CAGCAATTTGAGGCGGCTG -3'
(R):5'- TGGAGCTGGCAGACTGC -3'
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Posted On |
2022-07-18 |