Incidental Mutation 'R9167:Zfp677'
| ID |
696145 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp677
|
| Ensembl Gene |
ENSMUSG00000062743 |
| Gene Name |
zinc finger protein 677 |
| Synonyms |
A830058L05Rik |
| MMRRC Submission |
068946-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R9167 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
21604010-21619527 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21613460 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 18
(V18A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052667
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056107]
[ENSMUST00000162659]
|
| AlphaFold |
Q6PEP4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056107
AA Change: V18A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052667
Gene: ENSMUSG00000062743
AA Change: V18A
| 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 damaging
Transcript: ENSMUST00000162659
AA Change: V18A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125295
Gene: ENSMUSG00000062743
AA Change: V18A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
C |
A |
11: 119,901,952 (GRCm39) |
V815F |
possibly damaging |
Het |
| Abcb4 |
T |
A |
5: 8,986,849 (GRCm39) |
L756* |
probably null |
Het |
| Acrbp |
T |
C |
6: 125,039,942 (GRCm39) |
L515P |
probably damaging |
Het |
| Amot |
A |
T |
X: 144,244,745 (GRCm39) |
L435H |
|
Het |
| Atic |
T |
A |
1: 71,604,040 (GRCm39) |
I201N |
probably benign |
Het |
| Avpr1b |
T |
C |
1: 131,537,151 (GRCm39) |
S312P |
probably damaging |
Het |
| Cables1 |
T |
C |
18: 12,039,029 (GRCm39) |
V314A |
possibly damaging |
Het |
| Cd22 |
G |
A |
7: 30,575,430 (GRCm39) |
T204I |
probably benign |
Het |
| Cep250 |
A |
G |
2: 155,828,920 (GRCm39) |
N95D |
|
Het |
| Ctla4 |
C |
T |
1: 60,951,695 (GRCm39) |
R75W |
probably damaging |
Het |
| Cul7 |
A |
G |
17: 46,966,623 (GRCm39) |
M649V |
probably benign |
Het |
| Ddx46 |
T |
A |
13: 55,802,915 (GRCm39) |
V479E |
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,657,370 (GRCm39) |
N802S |
probably benign |
Het |
| Fmn2 |
G |
T |
1: 174,331,056 (GRCm39) |
R482L |
unknown |
Het |
| Fyn |
T |
G |
10: 39,402,811 (GRCm39) |
D194E |
probably benign |
Het |
| Hdac4 |
G |
A |
1: 91,875,256 (GRCm39) |
T905M |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,411,900 (GRCm39) |
I4707V |
possibly damaging |
Het |
| Hmgcs2 |
T |
C |
3: 98,204,430 (GRCm39) |
I277T |
possibly damaging |
Het |
| Kcnj15 |
A |
G |
16: 95,096,741 (GRCm39) |
D121G |
probably damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,506,200 (GRCm39) |
E899G |
probably benign |
Het |
| Kif16b |
A |
T |
2: 142,542,840 (GRCm39) |
L152* |
probably null |
Het |
| Krt73 |
A |
G |
15: 101,702,405 (GRCm39) |
V486A |
probably benign |
Het |
| Lrrc37a |
T |
A |
11: 103,347,658 (GRCm39) |
K3012N |
unknown |
Het |
| Musk |
A |
T |
4: 58,296,687 (GRCm39) |
I96F |
probably benign |
Het |
| Myrfl |
A |
G |
10: 116,667,450 (GRCm39) |
V330A |
probably damaging |
Het |
| Nanp |
A |
T |
2: 150,872,728 (GRCm39) |
C67S |
probably benign |
Het |
| Nlrp4e |
A |
G |
7: 23,039,951 (GRCm39) |
N758S |
probably benign |
Het |
| Nrxn3 |
T |
A |
12: 89,154,068 (GRCm39) |
V345D |
probably damaging |
Het |
| Nsun7 |
G |
A |
5: 66,435,994 (GRCm39) |
V289I |
possibly damaging |
Het |
| Or52d1 |
A |
G |
7: 103,756,426 (GRCm39) |
*313W |
probably null |
Het |
| Pde4a |
T |
C |
9: 21,102,798 (GRCm39) |
S161P |
probably benign |
Het |
| Pom121l2 |
C |
T |
13: 22,167,160 (GRCm39) |
A477V |
probably damaging |
Het |
| Rest |
GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC |
GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC |
5: 77,429,651 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,664,398 (GRCm39) |
I1651N |
probably damaging |
Het |
| Serpinb6e |
A |
G |
13: 34,023,009 (GRCm39) |
F125L |
possibly damaging |
Het |
| Slc2a9 |
T |
A |
5: 38,549,092 (GRCm39) |
T341S |
probably damaging |
Het |
| Taf3 |
A |
G |
2: 9,945,804 (GRCm39) |
V600A |
probably benign |
Het |
| Tasor2 |
A |
G |
13: 3,624,724 (GRCm39) |
V1742A |
probably benign |
Het |
| Tlx2 |
T |
A |
6: 83,046,042 (GRCm39) |
K211* |
probably null |
Het |
| Tmem266 |
A |
G |
9: 55,322,231 (GRCm39) |
D174G |
probably damaging |
Het |
| Tpm3 |
T |
A |
3: 89,994,824 (GRCm39) |
I147N |
probably benign |
Het |
| Unc93a |
T |
C |
17: 13,335,108 (GRCm39) |
K313E |
possibly damaging |
Het |
| Vmn1r9 |
A |
C |
6: 57,048,138 (GRCm39) |
E71A |
probably benign |
Het |
| Vwa2 |
T |
A |
19: 56,899,063 (GRCm39) |
D754E |
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 |
|
|
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 |
|
|
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'- CGTGGATAGGCTTGTGAGAC -3'
(R):5'- CTTTCAAGCCAGCTTAACAGAG -3'
Sequencing Primer
(F):5'- GCTTGTGAGACTACTGTGTCATCC -3'
(R):5'- GAGCTTACAACCCATTAAGTCTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation