Incidental Mutation 'IGL00481:Zfp677'
ID |
5775 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfp677
|
Ensembl Gene |
ENSMUSG00000062743 |
Gene Name |
zinc finger protein 677 |
Synonyms |
A830058L05Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
IGL00481
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
21604010-21619527 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 21617930 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 329
(E329V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125295
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056107]
[ENSMUST00000162659]
|
AlphaFold |
Q6PEP4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000056107
AA Change: E329V
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000052667 Gene: ENSMUSG00000062743 AA Change: E329V
Domain | Start | End | E-Value | Type |
KRAB
|
13 |
75 |
1.11e-21 |
SMART |
ZnF_C2H2
|
185 |
207 |
2.95e-3 |
SMART |
ZnF_C2H2
|
213 |
235 |
3.95e-4 |
SMART |
ZnF_C2H2
|
241 |
263 |
2.09e-3 |
SMART |
ZnF_C2H2
|
269 |
291 |
6.42e-4 |
SMART |
ZnF_C2H2
|
297 |
319 |
5.5e-3 |
SMART |
ZnF_C2H2
|
325 |
347 |
1.98e-4 |
SMART |
ZnF_C2H2
|
353 |
375 |
1.98e-4 |
SMART |
ZnF_C2H2
|
381 |
403 |
1.47e-3 |
SMART |
ZnF_C2H2
|
409 |
431 |
1.28e-3 |
SMART |
ZnF_C2H2
|
437 |
459 |
3.95e-4 |
SMART |
ZnF_C2H2
|
465 |
487 |
1.04e-3 |
SMART |
ZnF_C2H2
|
493 |
515 |
8.47e-4 |
SMART |
ZnF_C2H2
|
521 |
543 |
7.49e-5 |
SMART |
ZnF_C2H2
|
549 |
571 |
1.18e-2 |
SMART |
ZnF_C2H2
|
577 |
599 |
6.08e-5 |
SMART |
ZnF_C2H2
|
610 |
632 |
4.17e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162659
AA Change: E329V
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000125295 Gene: ENSMUSG00000062743 AA Change: E329V
Domain | Start | End | E-Value | Type |
KRAB
|
13 |
75 |
1.11e-21 |
SMART |
Pfam:zf-H2C2_2
|
118 |
140 |
2.9e-5 |
PFAM |
ZnF_C2H2
|
185 |
207 |
2.95e-3 |
SMART |
ZnF_C2H2
|
213 |
235 |
3.95e-4 |
SMART |
ZnF_C2H2
|
241 |
263 |
2.09e-3 |
SMART |
ZnF_C2H2
|
269 |
291 |
6.42e-4 |
SMART |
ZnF_C2H2
|
297 |
319 |
5.5e-3 |
SMART |
ZnF_C2H2
|
325 |
347 |
1.98e-4 |
SMART |
ZnF_C2H2
|
353 |
375 |
1.98e-4 |
SMART |
ZnF_C2H2
|
381 |
403 |
1.47e-3 |
SMART |
ZnF_C2H2
|
409 |
431 |
1.28e-3 |
SMART |
ZnF_C2H2
|
437 |
459 |
3.95e-4 |
SMART |
ZnF_C2H2
|
465 |
487 |
1.04e-3 |
SMART |
ZnF_C2H2
|
493 |
515 |
8.47e-4 |
SMART |
ZnF_C2H2
|
521 |
543 |
7.49e-5 |
SMART |
ZnF_C2H2
|
549 |
571 |
1.18e-2 |
SMART |
ZnF_C2H2
|
577 |
599 |
6.08e-5 |
SMART |
ZnF_C2H2
|
610 |
632 |
4.17e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232365
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,240,969 (GRCm39) |
L944P |
probably damaging |
Het |
Akap13 |
A |
G |
7: 75,373,643 (GRCm39) |
S1885G |
probably damaging |
Het |
Aqp3 |
A |
G |
4: 41,093,632 (GRCm39) |
Y261H |
probably damaging |
Het |
Arap2 |
A |
T |
5: 62,793,305 (GRCm39) |
N1380K |
probably damaging |
Het |
Barx2 |
T |
C |
9: 31,758,141 (GRCm39) |
I266V |
unknown |
Het |
BC034090 |
C |
T |
1: 155,108,267 (GRCm39) |
R360H |
probably benign |
Het |
Bmal2 |
T |
A |
6: 146,711,164 (GRCm39) |
M56K |
probably benign |
Het |
Ccnb2 |
T |
C |
9: 70,326,189 (GRCm39) |
K52E |
probably damaging |
Het |
Ccp110 |
G |
A |
7: 118,329,220 (GRCm39) |
V868I |
possibly damaging |
Het |
Cfap300 |
T |
C |
9: 8,042,432 (GRCm39) |
Y57C |
probably damaging |
Het |
Cyld |
G |
T |
8: 89,433,918 (GRCm39) |
V236F |
probably damaging |
Het |
Dst |
T |
C |
1: 34,208,410 (GRCm39) |
|
probably benign |
Het |
Ehmt1 |
G |
T |
2: 24,728,830 (GRCm39) |
A637E |
possibly damaging |
Het |
Erlin1 |
G |
T |
19: 44,057,758 (GRCm39) |
Y22* |
probably null |
Het |
Ezh1 |
A |
T |
11: 101,090,128 (GRCm39) |
M539K |
possibly damaging |
Het |
Fancc |
A |
T |
13: 63,548,059 (GRCm39) |
I80N |
probably damaging |
Het |
Fat1 |
G |
A |
8: 45,503,977 (GRCm39) |
S4447N |
probably benign |
Het |
Fem1al |
A |
G |
11: 29,774,755 (GRCm39) |
L234P |
probably damaging |
Het |
Fhip2a |
A |
G |
19: 57,369,777 (GRCm39) |
E440G |
probably benign |
Het |
Frem3 |
A |
G |
8: 81,395,439 (GRCm39) |
Q1822R |
possibly damaging |
Het |
Iqgap1 |
C |
T |
7: 80,409,592 (GRCm39) |
V248I |
probably benign |
Het |
Itch |
T |
C |
2: 155,054,943 (GRCm39) |
I749T |
probably damaging |
Het |
Kcna10 |
T |
A |
3: 107,102,830 (GRCm39) |
M487K |
probably benign |
Het |
Krt87 |
A |
T |
15: 101,386,092 (GRCm39) |
L223Q |
probably benign |
Het |
Mtmr2 |
T |
C |
9: 13,697,212 (GRCm39) |
I84T |
probably benign |
Het |
Myocd |
G |
A |
11: 65,077,980 (GRCm39) |
T477M |
probably damaging |
Het |
Nfic |
A |
T |
10: 81,244,054 (GRCm39) |
V240E |
possibly damaging |
Het |
Or4d2 |
A |
G |
11: 87,784,447 (GRCm39) |
I101T |
possibly damaging |
Het |
Prkdc |
A |
T |
16: 15,608,330 (GRCm39) |
Y3044F |
probably benign |
Het |
Prkg1 |
A |
G |
19: 30,549,022 (GRCm39) |
I636T |
probably benign |
Het |
Ptpru |
A |
G |
4: 131,535,546 (GRCm39) |
V477A |
probably benign |
Het |
Rab7b |
T |
A |
1: 131,626,329 (GRCm39) |
M119K |
possibly damaging |
Het |
Sec61a1 |
T |
C |
6: 88,483,922 (GRCm39) |
|
probably benign |
Het |
Sectm1b |
A |
G |
11: 120,946,799 (GRCm39) |
V32A |
probably benign |
Het |
Shroom2 |
A |
G |
X: 151,406,219 (GRCm39) |
S1034P |
probably benign |
Het |
Sipa1l3 |
A |
T |
7: 29,085,533 (GRCm39) |
I688N |
probably damaging |
Het |
Slc24a1 |
T |
C |
9: 64,835,301 (GRCm39) |
Y942C |
probably damaging |
Het |
Smg1 |
C |
T |
7: 117,810,017 (GRCm39) |
R139K |
possibly damaging |
Het |
Stt3b |
G |
A |
9: 115,080,915 (GRCm39) |
T574I |
probably benign |
Het |
Thoc2 |
A |
G |
X: 40,968,768 (GRCm39) |
I76T |
possibly damaging |
Het |
Tpm3 |
C |
T |
3: 89,995,024 (GRCm39) |
T180M |
probably damaging |
Het |
Uqcrfs1 |
C |
A |
13: 30,724,908 (GRCm39) |
V211F |
probably benign |
Het |
Usp47 |
A |
G |
7: 111,673,990 (GRCm39) |
S418G |
probably benign |
Het |
Usp5 |
T |
C |
6: 124,806,316 (GRCm39) |
T15A |
probably benign |
Het |
Vps13c |
T |
C |
9: 67,768,147 (GRCm39) |
L122P |
probably damaging |
Het |
Zfyve16 |
A |
T |
13: 92,653,046 (GRCm39) |
N846K |
possibly damaging |
Het |
Zp1 |
G |
T |
19: 10,896,141 (GRCm39) |
P195T |
probably damaging |
Het |
|
Other mutations in Zfp677 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01973:Zfp677
|
APN |
17 |
21,617,169 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02206:Zfp677
|
APN |
17 |
21,613,499 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03240:Zfp677
|
APN |
17 |
21,617,135 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03409:Zfp677
|
APN |
17 |
21,617,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R0622:Zfp677
|
UTSW |
17 |
21,617,962 (GRCm39) |
missense |
probably benign |
0.04 |
R0972:Zfp677
|
UTSW |
17 |
21,618,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R1519:Zfp677
|
UTSW |
17 |
21,617,499 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2155:Zfp677
|
UTSW |
17 |
21,617,970 (GRCm39) |
missense |
probably benign |
0.01 |
R2316:Zfp677
|
UTSW |
17 |
21,617,582 (GRCm39) |
missense |
probably benign |
0.38 |
R2866:Zfp677
|
UTSW |
17 |
21,617,518 (GRCm39) |
nonsense |
probably null |
|
R2989:Zfp677
|
UTSW |
17 |
21,617,114 (GRCm39) |
missense |
probably benign |
0.11 |
R3955:Zfp677
|
UTSW |
17 |
21,618,079 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4075:Zfp677
|
UTSW |
17 |
21,618,421 (GRCm39) |
missense |
probably damaging |
1.00 |
R4134:Zfp677
|
UTSW |
17 |
21,618,043 (GRCm39) |
missense |
probably benign |
0.01 |
R4229:Zfp677
|
UTSW |
17 |
21,618,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R4729:Zfp677
|
UTSW |
17 |
21,617,680 (GRCm39) |
missense |
possibly damaging |
0.51 |
R4843:Zfp677
|
UTSW |
17 |
21,612,788 (GRCm39) |
missense |
probably benign |
0.23 |
R5023:Zfp677
|
UTSW |
17 |
21,618,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R5316:Zfp677
|
UTSW |
17 |
21,617,410 (GRCm39) |
missense |
probably damaging |
0.99 |
R5420:Zfp677
|
UTSW |
17 |
21,618,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R5694:Zfp677
|
UTSW |
17 |
21,618,021 (GRCm39) |
missense |
probably damaging |
0.99 |
R5837:Zfp677
|
UTSW |
17 |
21,617,648 (GRCm39) |
missense |
probably damaging |
1.00 |
R5888:Zfp677
|
UTSW |
17 |
21,618,520 (GRCm39) |
missense |
probably damaging |
1.00 |
R6007:Zfp677
|
UTSW |
17 |
21,617,918 (GRCm39) |
missense |
probably damaging |
1.00 |
R6119:Zfp677
|
UTSW |
17 |
21,618,070 (GRCm39) |
missense |
possibly damaging |
0.55 |
R6190:Zfp677
|
UTSW |
17 |
21,617,530 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6518:Zfp677
|
UTSW |
17 |
21,618,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R7198:Zfp677
|
UTSW |
17 |
21,618,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R7391:Zfp677
|
UTSW |
17 |
21,618,653 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7801:Zfp677
|
UTSW |
17 |
21,618,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R7808:Zfp677
|
UTSW |
17 |
21,617,647 (GRCm39) |
missense |
probably damaging |
1.00 |
R8202:Zfp677
|
UTSW |
17 |
21,613,535 (GRCm39) |
missense |
probably damaging |
1.00 |
R8206:Zfp677
|
UTSW |
17 |
21,612,717 (GRCm39) |
splice site |
probably null |
|
R8885:Zfp677
|
UTSW |
17 |
21,618,350 (GRCm39) |
missense |
probably benign |
|
R8965:Zfp677
|
UTSW |
17 |
21,617,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R9062:Zfp677
|
UTSW |
17 |
21,612,815 (GRCm39) |
critical splice donor site |
probably null |
|
R9167:Zfp677
|
UTSW |
17 |
21,613,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R9371:Zfp677
|
UTSW |
17 |
21,618,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R9638:Zfp677
|
UTSW |
17 |
21,618,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R9752:Zfp677
|
UTSW |
17 |
21,618,511 (GRCm39) |
missense |
probably damaging |
1.00 |
RF003:Zfp677
|
UTSW |
17 |
21,617,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-04-20 |