Incidental Mutation 'R2989:Zfp677'
ID |
257875 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp677
|
Ensembl Gene |
ENSMUSG00000062743 |
Gene Name |
zinc finger protein 677 |
Synonyms |
A830058L05Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
R2989 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
21604010-21619527 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 21617114 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 57
(I57T)
|
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: I57T
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000052667 Gene: ENSMUSG00000062743 AA Change: I57T
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: I57T
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000125295 Gene: ENSMUSG00000062743 AA Change: I57T
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
G |
A |
13: 81,729,866 (GRCm39) |
T205I |
probably damaging |
Het |
Arhgap32 |
T |
A |
9: 32,150,694 (GRCm39) |
N31K |
possibly damaging |
Het |
C1galt1 |
A |
G |
6: 7,866,622 (GRCm39) |
D156G |
possibly damaging |
Het |
Chrna3 |
C |
T |
9: 54,923,334 (GRCm39) |
C158Y |
probably damaging |
Het |
Cnot1 |
T |
C |
8: 96,470,906 (GRCm39) |
E1314G |
possibly damaging |
Het |
Coil |
C |
A |
11: 88,878,805 (GRCm39) |
A520D |
probably damaging |
Het |
Cpe |
G |
T |
8: 65,050,549 (GRCm39) |
N386K |
probably benign |
Het |
Fat4 |
T |
C |
3: 39,061,302 (GRCm39) |
I4295T |
probably benign |
Het |
Foxn1 |
C |
G |
11: 78,249,603 (GRCm39) |
G641R |
possibly damaging |
Het |
G530012D18Rik |
GAGAGAGACAGAGAGACAGAGA |
GAGAGAGACAGAGA |
1: 85,504,937 (GRCm39) |
|
probably null |
Het |
Intu |
A |
G |
3: 40,647,140 (GRCm39) |
K671R |
probably benign |
Het |
Jup |
T |
C |
11: 100,267,667 (GRCm39) |
D552G |
possibly damaging |
Het |
Kcnk9 |
T |
C |
15: 72,384,207 (GRCm39) |
T324A |
unknown |
Het |
Mettl5 |
G |
T |
2: 69,711,659 (GRCm39) |
A69E |
probably damaging |
Het |
Or8b3b |
A |
T |
9: 38,583,831 (GRCm39) |
M303K |
probably benign |
Het |
Rpf2 |
A |
G |
10: 40,115,749 (GRCm39) |
S77P |
probably benign |
Het |
Sgo1 |
A |
G |
17: 53,994,162 (GRCm39) |
Y97H |
probably benign |
Het |
Srsf12 |
T |
C |
4: 33,223,599 (GRCm39) |
Y33H |
probably damaging |
Het |
Tcerg1 |
T |
A |
18: 42,652,540 (GRCm39) |
M56K |
unknown |
Het |
Trafd1 |
T |
C |
5: 121,517,529 (GRCm39) |
T63A |
probably damaging |
Het |
Ttc28 |
G |
A |
5: 111,371,881 (GRCm39) |
V777I |
probably benign |
Het |
Ubr4 |
A |
G |
4: 139,190,869 (GRCm39) |
E937G |
possibly damaging |
Het |
Zfp981 |
T |
A |
4: 146,622,347 (GRCm39) |
I424N |
probably benign |
Het |
|
Other mutations in Zfp677 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00481:Zfp677
|
APN |
17 |
21,617,930 (GRCm39) |
missense |
probably benign |
0.33 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGTCATGGGTTTTGTCAGAATCC -3'
(R):5'- ACGGTTCTTCTCCAGTGTGC -3'
Sequencing Primer
(F):5'- GACTGCTGTTTGACTTACC -3'
(R):5'- ATCTGCGTTTGGTGAGTCATTAGAC -3'
|
Posted On |
2015-01-11 |