Incidental Mutation 'R5316:Zfp677'
ID |
405855 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp677
|
Ensembl Gene |
ENSMUSG00000062743 |
Gene Name |
zinc finger protein 677 |
Synonyms |
A830058L05Rik |
MMRRC Submission |
042899-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
R5316 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
21604010-21619527 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 21617410 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 156
(K156E)
|
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: K156E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000052667 Gene: ENSMUSG00000062743 AA Change: K156E
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: K156E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000125295 Gene: ENSMUSG00000062743 AA Change: K156E
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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6b |
G |
A |
12: 113,455,013 (GRCm39) |
R610H |
probably damaging |
Het |
Agap2 |
G |
A |
10: 126,918,296 (GRCm39) |
|
probably null |
Het |
Apol10a |
A |
G |
15: 77,372,729 (GRCm39) |
T122A |
probably damaging |
Het |
Arhgap17 |
G |
T |
7: 122,895,750 (GRCm39) |
A458D |
possibly damaging |
Het |
Cd80 |
C |
T |
16: 38,294,239 (GRCm39) |
Q41* |
probably null |
Het |
Cmss1 |
T |
G |
16: 57,122,638 (GRCm39) |
K252T |
probably damaging |
Het |
Cog2 |
A |
G |
8: 125,255,779 (GRCm39) |
D122G |
probably benign |
Het |
Dsc3 |
T |
A |
18: 20,096,598 (GRCm39) |
D841V |
possibly damaging |
Het |
Dst |
C |
A |
1: 34,262,929 (GRCm39) |
Q4549K |
probably damaging |
Het |
Efcab3 |
A |
G |
11: 104,967,286 (GRCm39) |
I5275M |
possibly damaging |
Het |
Epha6 |
A |
G |
16: 59,775,083 (GRCm39) |
L711P |
probably damaging |
Het |
Gabrg2 |
T |
A |
11: 41,867,385 (GRCm39) |
N78I |
probably damaging |
Het |
H1f1 |
C |
T |
13: 23,948,085 (GRCm39) |
|
probably benign |
Het |
Htra3 |
T |
C |
5: 35,821,420 (GRCm39) |
D319G |
probably damaging |
Het |
Jph1 |
T |
C |
1: 17,161,750 (GRCm39) |
Y304C |
probably damaging |
Het |
Kat2a |
G |
T |
11: 100,602,996 (GRCm39) |
Q79K |
possibly damaging |
Het |
Klhl7 |
C |
T |
5: 24,332,748 (GRCm39) |
A102V |
probably benign |
Het |
Lamb3 |
A |
G |
1: 193,012,501 (GRCm39) |
H426R |
probably benign |
Het |
Lemd3 |
C |
A |
10: 120,788,161 (GRCm39) |
|
probably null |
Het |
Mcm3ap |
A |
C |
10: 76,306,760 (GRCm39) |
D291A |
possibly damaging |
Het |
Micos13 |
G |
A |
17: 56,916,649 (GRCm39) |
S7L |
possibly damaging |
Het |
Mme |
C |
G |
3: 63,276,375 (GRCm39) |
F717L |
probably damaging |
Het |
Mybpc2 |
T |
A |
7: 44,169,806 (GRCm39) |
K171* |
probably null |
Het |
Naip6 |
T |
C |
13: 100,420,290 (GRCm39) |
N1327D |
probably benign |
Het |
Nr2e1 |
A |
T |
10: 42,447,487 (GRCm39) |
M175K |
probably benign |
Het |
Or8a1b |
A |
T |
9: 37,622,981 (GRCm39) |
V198D |
possibly damaging |
Het |
Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
Ppef2 |
A |
T |
5: 92,383,670 (GRCm39) |
M480K |
probably benign |
Het |
Prkar2b |
A |
T |
12: 32,110,984 (GRCm39) |
L33Q |
probably damaging |
Het |
Ralgps2 |
A |
T |
1: 156,641,067 (GRCm39) |
V496E |
probably damaging |
Het |
Rbms2 |
G |
A |
10: 127,981,606 (GRCm39) |
P81L |
probably damaging |
Het |
Scara5 |
T |
C |
14: 65,927,264 (GRCm39) |
S54P |
possibly damaging |
Het |
Slc18a3 |
T |
C |
14: 32,184,814 (GRCm39) |
D523G |
probably benign |
Het |
Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
Srrt |
C |
A |
5: 137,294,813 (GRCm39) |
A747S |
probably benign |
Het |
Sycp2 |
C |
T |
2: 177,998,296 (GRCm39) |
D1075N |
probably benign |
Het |
Tasor |
A |
G |
14: 27,193,992 (GRCm39) |
D1064G |
possibly damaging |
Het |
Vat1l |
G |
A |
8: 115,011,088 (GRCm39) |
V279I |
probably damaging |
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 |
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'- CTTCATGAACACTTCAAATGTGCAC -3'
(R):5'- CACTTGTAGGGTTTCTCTCCAGTATG -3'
Sequencing Primer
(F):5'- GTGACAGGGATGTGTCTA -3'
(R):5'- AGGGTTTCTCTCCAGTATGAATTC -3'
|
Posted On |
2016-07-22 |