Incidental Mutation 'R0547:Zfp827'
ID |
44908 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp827
|
Ensembl Gene |
ENSMUSG00000071064 |
Gene Name |
zinc finger protein 827 |
Synonyms |
D630040G17Rik, 2810449M09Rik |
MMRRC Submission |
038739-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.920)
|
Stock # |
R0547 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
79755066-79920395 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 79786939 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 35
(N35S)
|
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: N35S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000085238 Gene: ENSMUSG00000071064 AA Change: N35S
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: N35S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000096214 Gene: ENSMUSG00000071064 AA Change: N35S
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: N35S
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113199 Gene: ENSMUSG00000071064 AA Change: N35S
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 |
|
Meta Mutation Damage Score |
0.0634 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
Validation Efficiency |
98% (57/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057N15Rik |
A |
G |
16: 88,570,498 (GRCm39) |
Y181H |
probably benign |
Het |
A530084C06Rik |
A |
G |
13: 31,742,813 (GRCm39) |
|
probably benign |
Het |
Adamtsl1 |
A |
G |
4: 86,274,592 (GRCm39) |
D1208G |
probably benign |
Het |
Ankrd55 |
T |
C |
13: 112,504,757 (GRCm39) |
F501S |
probably benign |
Het |
Aox1 |
G |
A |
1: 58,349,201 (GRCm39) |
D656N |
probably damaging |
Het |
Atr |
A |
T |
9: 95,781,218 (GRCm39) |
|
probably benign |
Het |
Bicra |
G |
A |
7: 15,706,173 (GRCm39) |
R1423W |
probably damaging |
Het |
Cabyr |
T |
A |
18: 12,884,073 (GRCm39) |
S187T |
probably benign |
Het |
Car5b |
G |
A |
X: 162,762,297 (GRCm39) |
R282C |
probably damaging |
Het |
Cdon |
A |
T |
9: 35,368,794 (GRCm39) |
T343S |
possibly damaging |
Het |
Cep350 |
C |
T |
1: 155,777,181 (GRCm39) |
|
probably null |
Het |
Cimap1a |
A |
G |
7: 140,428,728 (GRCm39) |
|
probably null |
Het |
Copa |
T |
C |
1: 171,949,254 (GRCm39) |
|
probably benign |
Het |
Cyp4f18 |
T |
C |
8: 72,749,854 (GRCm39) |
D265G |
probably benign |
Het |
Dgkb |
T |
A |
12: 38,654,157 (GRCm39) |
C759S |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,021,757 (GRCm39) |
M3470V |
probably benign |
Het |
Eif4g2 |
T |
C |
7: 110,677,500 (GRCm39) |
N177S |
probably damaging |
Het |
Etfb |
C |
T |
7: 43,104,002 (GRCm39) |
Q145* |
probably null |
Het |
Flnb |
T |
A |
14: 7,912,943 (GRCm38) |
|
probably null |
Het |
G430095P16Rik |
G |
A |
8: 85,453,271 (GRCm39) |
|
probably benign |
Het |
Gfral |
A |
T |
9: 76,115,924 (GRCm39) |
S17T |
probably benign |
Het |
Gpr26 |
T |
C |
7: 131,586,026 (GRCm39) |
I332T |
probably benign |
Het |
Greb1 |
T |
A |
12: 16,773,412 (GRCm39) |
T221S |
probably benign |
Het |
Haus5 |
A |
T |
7: 30,358,508 (GRCm39) |
S289T |
probably damaging |
Het |
Ighv6-4 |
T |
C |
12: 114,370,221 (GRCm39) |
Y77C |
probably damaging |
Het |
Il23r |
A |
T |
6: 67,400,685 (GRCm39) |
D548E |
probably benign |
Het |
Il23r |
A |
T |
6: 67,463,235 (GRCm39) |
F86Y |
possibly damaging |
Het |
Inppl1 |
A |
T |
7: 101,480,210 (GRCm39) |
M424K |
probably benign |
Het |
Jam3 |
A |
G |
9: 27,010,184 (GRCm39) |
Y267H |
probably damaging |
Het |
Lrrc37 |
T |
C |
11: 103,510,990 (GRCm39) |
N326S |
unknown |
Het |
Mms19 |
A |
T |
19: 41,951,857 (GRCm39) |
M160K |
probably damaging |
Het |
Muc2 |
CGTG |
CGTGTG |
7: 141,699,185 (GRCm38) |
|
probably null |
Het |
Mup5 |
A |
G |
4: 61,751,237 (GRCm39) |
L137P |
probably damaging |
Het |
Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
Ntrk2 |
G |
A |
13: 59,022,184 (GRCm39) |
S413N |
probably damaging |
Het |
Nuak2 |
C |
A |
1: 132,259,941 (GRCm39) |
T573N |
probably benign |
Het |
Or4m1 |
A |
T |
14: 50,557,575 (GRCm39) |
I239K |
probably benign |
Het |
Or52h9 |
G |
A |
7: 104,202,563 (GRCm39) |
V146M |
probably benign |
Het |
Padi4 |
GCTGCGTACCTCCAC |
GC |
4: 140,475,760 (GRCm39) |
|
probably benign |
Het |
Pclo |
T |
A |
5: 14,842,086 (GRCm39) |
I4787N |
unknown |
Het |
Pde8a |
G |
T |
7: 80,973,878 (GRCm39) |
V612L |
probably benign |
Het |
Pear1 |
A |
T |
3: 87,696,107 (GRCm39) |
|
probably null |
Het |
Pgbd1 |
A |
G |
13: 21,607,688 (GRCm39) |
Y169H |
probably damaging |
Het |
Pkd1l1 |
A |
G |
11: 8,786,448 (GRCm39) |
|
probably benign |
Het |
Prkag3 |
C |
T |
1: 74,783,879 (GRCm39) |
|
probably null |
Het |
Rsph9 |
A |
T |
17: 46,455,050 (GRCm39) |
S9T |
possibly damaging |
Het |
Rxfp1 |
A |
T |
3: 79,612,876 (GRCm39) |
|
probably null |
Het |
Senp7 |
A |
G |
16: 55,996,189 (GRCm39) |
E756G |
probably damaging |
Het |
Serpina1e |
G |
T |
12: 103,915,450 (GRCm39) |
T252K |
probably benign |
Het |
Sipa1l1 |
T |
A |
12: 82,484,510 (GRCm39) |
S1555T |
probably benign |
Het |
Slain1 |
T |
C |
14: 103,932,711 (GRCm39) |
S432P |
probably damaging |
Het |
Slc37a2 |
A |
T |
9: 37,144,418 (GRCm39) |
|
probably null |
Het |
Thg1l |
C |
T |
11: 45,845,018 (GRCm39) |
R18Q |
probably damaging |
Het |
Tnn |
A |
G |
1: 159,943,907 (GRCm39) |
|
probably benign |
Het |
Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
Tshz3 |
A |
G |
7: 36,470,842 (GRCm39) |
T944A |
probably damaging |
Het |
Ttn |
C |
G |
2: 76,684,774 (GRCm39) |
|
probably benign |
Het |
Ythdc2 |
T |
C |
18: 44,973,331 (GRCm39) |
S323P |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTTCAGCTCGTACTGAATCACTGC -3'
(R):5'- AGTCTCGGAGAACCTCACCATCAAG -3'
Sequencing Primer
(F):5'- CTCGTAACATGAGCTAttcttttttc -3'
(R):5'- TCAAGTGCCACCAACTCCAG -3'
|
Posted On |
2013-06-11 |