Incidental Mutation 'R6518:Zfp677'
ID |
520923 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp677
|
Ensembl Gene |
ENSMUSG00000062743 |
Gene Name |
zinc finger protein 677 |
Synonyms |
A830058L05Rik |
MMRRC Submission |
044645-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
R6518 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
21604010-21619527 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 21618392 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 483
(H483R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125295
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056107]
[ENSMUST00000162659]
|
AlphaFold |
Q6PEP4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056107
AA Change: H483R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000052667 Gene: ENSMUSG00000062743 AA Change: H483R
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: H483R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125295 Gene: ENSMUSG00000062743 AA Change: H483R
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
|
Meta Mutation Damage Score |
0.6999 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.5%
|
Validation Efficiency |
98% (48/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
T |
C |
4: 103,123,608 (GRCm39) |
D88G |
probably damaging |
Het |
Abcc12 |
A |
G |
8: 87,235,718 (GRCm39) |
|
|
Het |
Angptl6 |
T |
C |
9: 20,786,656 (GRCm39) |
H330R |
probably damaging |
Het |
Asxl3 |
T |
A |
18: 22,649,397 (GRCm39) |
V462E |
probably damaging |
Het |
Atp13a2 |
G |
C |
4: 140,728,165 (GRCm39) |
R503P |
possibly damaging |
Het |
C1ra |
T |
A |
6: 124,498,534 (GRCm39) |
|
probably null |
Het |
C2 |
T |
A |
17: 35,083,094 (GRCm39) |
I426F |
probably damaging |
Het |
C4b |
A |
T |
17: 34,953,179 (GRCm39) |
Y1049N |
probably damaging |
Het |
Cdkn1b |
T |
A |
6: 134,898,283 (GRCm39) |
M134K |
probably benign |
Het |
Cenpn |
A |
G |
8: 117,663,904 (GRCm39) |
D145G |
possibly damaging |
Het |
Ckap2 |
A |
T |
8: 22,663,319 (GRCm39) |
I492K |
probably benign |
Het |
Cog2 |
G |
A |
8: 125,253,842 (GRCm39) |
W67* |
probably null |
Het |
Col7a1 |
T |
C |
9: 108,784,595 (GRCm39) |
F172L |
unknown |
Het |
Dcaf1 |
T |
C |
9: 106,712,788 (GRCm39) |
I112T |
probably damaging |
Het |
Ddx4 |
T |
C |
13: 112,741,081 (GRCm39) |
I518V |
probably benign |
Het |
Dnah10 |
T |
C |
5: 124,835,419 (GRCm39) |
L908P |
probably damaging |
Het |
Dsg3 |
T |
C |
18: 20,666,479 (GRCm39) |
Y563H |
probably benign |
Het |
Gm16686 |
A |
C |
4: 88,673,725 (GRCm39) |
|
probably benign |
Het |
Gpr139 |
A |
T |
7: 118,743,734 (GRCm39) |
F284I |
probably damaging |
Het |
Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
Ice1 |
A |
T |
13: 70,754,428 (GRCm39) |
F553I |
possibly damaging |
Het |
Igkv6-29 |
T |
A |
6: 70,115,497 (GRCm39) |
Q99L |
probably damaging |
Het |
Lipt1 |
A |
G |
1: 37,914,856 (GRCm39) |
N304S |
probably benign |
Het |
Lmo1 |
A |
C |
7: 108,742,783 (GRCm39) |
L39R |
probably damaging |
Het |
Mcc |
T |
A |
18: 44,794,878 (GRCm39) |
|
probably benign |
Het |
Mindy3 |
T |
C |
2: 12,386,940 (GRCm39) |
T74A |
probably damaging |
Het |
Obi1 |
A |
T |
14: 104,716,501 (GRCm39) |
L624H |
probably damaging |
Het |
Or11a4 |
G |
T |
17: 37,536,159 (GRCm39) |
A48S |
probably benign |
Het |
Or13j1 |
A |
G |
4: 43,706,334 (GRCm39) |
V78A |
probably benign |
Het |
Or4e5 |
T |
C |
14: 52,728,077 (GRCm39) |
I115V |
probably damaging |
Het |
Ormdl1 |
T |
C |
1: 53,348,116 (GRCm39) |
Y153H |
probably benign |
Het |
Pdzrn3 |
A |
T |
6: 101,127,475 (GRCm39) |
*1064K |
probably null |
Het |
Pias1 |
A |
G |
9: 62,859,142 (GRCm39) |
L113P |
probably damaging |
Het |
Piezo2 |
A |
T |
18: 63,239,342 (GRCm39) |
I514N |
probably damaging |
Het |
Prkd1 |
T |
C |
12: 50,472,278 (GRCm39) |
T212A |
probably benign |
Het |
Rsph10b |
A |
G |
5: 143,900,691 (GRCm39) |
Y151C |
probably damaging |
Het |
Samhd1 |
G |
A |
2: 156,956,217 (GRCm39) |
T325M |
possibly damaging |
Het |
Seh1l |
A |
G |
18: 67,922,519 (GRCm39) |
T291A |
probably damaging |
Het |
Smim24 |
A |
G |
10: 81,229,695 (GRCm39) |
M1V |
probably null |
Het |
Sp140 |
TTTTTTTTTTTT |
TTTTTTTTTTTTTTTTT |
1: 85,572,291 (GRCm39) |
|
probably benign |
Het |
Spata31f1e |
A |
G |
4: 42,791,750 (GRCm39) |
I794T |
probably benign |
Het |
Speer3 |
T |
G |
5: 13,845,462 (GRCm39) |
I165S |
possibly damaging |
Het |
Timm23 |
A |
G |
14: 31,923,594 (GRCm39) |
|
probably null |
Het |
Tmem17 |
A |
T |
11: 22,467,427 (GRCm39) |
Y75F |
possibly damaging |
Het |
Tmem86b |
A |
T |
7: 4,632,608 (GRCm39) |
C85* |
probably null |
Het |
Try5 |
A |
G |
6: 41,291,613 (GRCm39) |
F6S |
probably benign |
Het |
Vmn2r71 |
G |
T |
7: 85,270,436 (GRCm39) |
C534F |
probably damaging |
Het |
Vmn2r85 |
A |
T |
10: 130,265,281 (GRCm39) |
D67E |
probably benign |
Het |
Wars2 |
A |
T |
3: 99,124,116 (GRCm39) |
M326L |
probably benign |
Het |
Wdr70 |
A |
T |
15: 8,108,821 (GRCm39) |
S108R |
unknown |
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 |
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'- CTTTTACCGAGAAGTCAACACTT -3'
(R):5'- ACCAGGTGAAGGATTTGTCAC -3'
Sequencing Primer
(F):5'- CTTCATACTGGGGAGAAACCTTAC -3'
(R):5'- GTCACAAATGTTGCACTTGTAGAGC -3'
|
Posted On |
2018-06-06 |