Incidental Mutation 'R6620:Zfp808'
ID |
528141 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp808
|
Ensembl Gene |
ENSMUSG00000074867 |
Gene Name |
zinc finger protein 808 |
Synonyms |
Gm7036 |
MMRRC Submission |
044743-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R6620 (G1)
|
Quality Score |
171.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
62277674-62321752 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 62320638 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 622
(N622K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097048
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099449]
[ENSMUST00000221772]
|
AlphaFold |
B8JJZ4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099449
AA Change: N622K
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000097048 Gene: ENSMUSG00000074867 AA Change: N622K
Domain | Start | End | E-Value | Type |
KRAB
|
4 |
66 |
2.1e-17 |
SMART |
ZnF_C2H2
|
133 |
155 |
2.4e-3 |
SMART |
ZnF_C2H2
|
161 |
183 |
8.34e-3 |
SMART |
ZnF_C2H2
|
189 |
211 |
2.75e-3 |
SMART |
ZnF_C2H2
|
217 |
239 |
1.98e-4 |
SMART |
ZnF_C2H2
|
245 |
267 |
3.21e-4 |
SMART |
ZnF_C2H2
|
273 |
295 |
2.43e-4 |
SMART |
ZnF_C2H2
|
301 |
323 |
8.6e-5 |
SMART |
ZnF_C2H2
|
329 |
351 |
4.54e-4 |
SMART |
ZnF_C2H2
|
357 |
379 |
9.22e-5 |
SMART |
ZnF_C2H2
|
385 |
407 |
8.22e-2 |
SMART |
ZnF_C2H2
|
413 |
435 |
1.56e-2 |
SMART |
ZnF_C2H2
|
441 |
463 |
5.99e-4 |
SMART |
ZnF_C2H2
|
469 |
491 |
2.79e-4 |
SMART |
ZnF_C2H2
|
497 |
519 |
4.54e-4 |
SMART |
ZnF_C2H2
|
525 |
547 |
1.95e-3 |
SMART |
ZnF_C2H2
|
553 |
575 |
4.24e-4 |
SMART |
ZnF_C2H2
|
581 |
603 |
2.27e-4 |
SMART |
ZnF_C2H2
|
609 |
631 |
2.27e-4 |
SMART |
ZnF_C2H2
|
637 |
659 |
9.08e-4 |
SMART |
ZnF_C2H2
|
665 |
687 |
1.4e-4 |
SMART |
ZnF_C2H2
|
693 |
715 |
4.24e-4 |
SMART |
ZnF_C2H2
|
721 |
743 |
1.26e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221542
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221772
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222809
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222947
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223094
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
Validation Efficiency |
100% (35/35) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad9 |
G |
T |
3: 36,120,294 (GRCm39) |
A13S |
possibly damaging |
Het |
Ahnak |
G |
A |
19: 8,992,674 (GRCm39) |
E4653K |
possibly damaging |
Het |
Apc2 |
C |
T |
10: 80,149,401 (GRCm39) |
P1485L |
probably damaging |
Het |
Atp9b |
A |
T |
18: 80,851,902 (GRCm39) |
L397* |
probably null |
Het |
Ces1e |
C |
A |
8: 93,950,546 (GRCm39) |
K79N |
probably damaging |
Het |
Col12a1 |
A |
C |
9: 79,527,331 (GRCm39) |
I2666M |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,570,355 (GRCm39) |
N361I |
probably benign |
Het |
Dock3 |
C |
A |
9: 106,815,125 (GRCm39) |
M1247I |
probably benign |
Het |
Evi5l |
C |
A |
8: 4,256,674 (GRCm39) |
A720E |
possibly damaging |
Het |
F5 |
T |
C |
1: 164,014,375 (GRCm39) |
F549L |
probably damaging |
Het |
Gpx2 |
T |
C |
12: 76,839,674 (GRCm39) |
N108S |
possibly damaging |
Het |
Ifnar1 |
T |
C |
16: 91,293,155 (GRCm39) |
|
probably null |
Het |
Kcnj16 |
T |
C |
11: 110,915,473 (GRCm39) |
V45A |
probably damaging |
Het |
Kng1 |
T |
C |
16: 22,900,232 (GRCm39) |
L402P |
possibly damaging |
Het |
Lct |
C |
A |
1: 128,222,809 (GRCm39) |
|
probably null |
Het |
Lmo7 |
G |
T |
14: 102,112,888 (GRCm39) |
K106N |
probably benign |
Het |
Map3k13 |
A |
T |
16: 21,711,061 (GRCm39) |
I115F |
possibly damaging |
Het |
Mapre2 |
T |
C |
18: 23,991,002 (GRCm39) |
V123A |
probably benign |
Het |
Mtfr1l |
A |
G |
4: 134,256,394 (GRCm39) |
|
probably null |
Het |
Or10g6 |
T |
A |
9: 39,934,225 (GRCm39) |
C179S |
probably damaging |
Het |
Or4c99 |
A |
G |
2: 88,356,743 (GRCm39) |
Y272C |
probably damaging |
Het |
Pbxip1 |
G |
A |
3: 89,355,133 (GRCm39) |
V551I |
probably benign |
Het |
Pcdha8 |
T |
C |
18: 37,125,581 (GRCm39) |
I21T |
probably benign |
Het |
Plekha5 |
G |
A |
6: 140,518,601 (GRCm39) |
R296Q |
probably damaging |
Het |
Psme2 |
A |
C |
14: 55,825,928 (GRCm39) |
D126E |
probably damaging |
Het |
Psmg2 |
T |
C |
18: 67,774,807 (GRCm39) |
|
probably null |
Het |
Ranbp2 |
A |
T |
10: 58,291,629 (GRCm39) |
|
probably null |
Het |
Sdr39u1 |
C |
T |
14: 56,135,172 (GRCm39) |
R257H |
probably damaging |
Het |
Sorbs2 |
G |
T |
8: 46,249,213 (GRCm39) |
R802S |
probably damaging |
Het |
Spata31 |
A |
G |
13: 65,067,571 (GRCm39) |
N78D |
possibly damaging |
Het |
Spatc1l |
A |
G |
10: 76,405,756 (GRCm39) |
D320G |
probably damaging |
Het |
Ttc8 |
T |
C |
12: 98,923,579 (GRCm39) |
Y212H |
possibly damaging |
Het |
Vmn2r112 |
G |
A |
17: 22,822,082 (GRCm39) |
M253I |
probably benign |
Het |
Zbed5 |
A |
G |
5: 129,932,130 (GRCm39) |
E693G |
possibly damaging |
Het |
|
Other mutations in Zfp808 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01609:Zfp808
|
APN |
13 |
62,321,023 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02517:Zfp808
|
APN |
13 |
62,321,032 (GRCm39) |
makesense |
probably null |
|
IGL02809:Zfp808
|
APN |
13 |
62,320,994 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02882:Zfp808
|
APN |
13 |
62,320,994 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02941:Zfp808
|
APN |
13 |
62,320,944 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL03184:Zfp808
|
APN |
13 |
62,317,381 (GRCm39) |
missense |
possibly damaging |
0.90 |
LCD18:Zfp808
|
UTSW |
13 |
62,314,465 (GRCm39) |
intron |
probably benign |
|
R0387:Zfp808
|
UTSW |
13 |
62,317,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R0472:Zfp808
|
UTSW |
13 |
62,320,120 (GRCm39) |
missense |
probably damaging |
1.00 |
R0544:Zfp808
|
UTSW |
13 |
62,317,248 (GRCm39) |
splice site |
probably benign |
|
R0635:Zfp808
|
UTSW |
13 |
62,320,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R0981:Zfp808
|
UTSW |
13 |
62,319,487 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1446:Zfp808
|
UTSW |
13 |
62,320,821 (GRCm39) |
missense |
probably damaging |
1.00 |
R1569:Zfp808
|
UTSW |
13 |
62,320,714 (GRCm39) |
nonsense |
probably null |
|
R1573:Zfp808
|
UTSW |
13 |
62,319,311 (GRCm39) |
missense |
possibly damaging |
0.52 |
R1761:Zfp808
|
UTSW |
13 |
62,319,460 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1796:Zfp808
|
UTSW |
13 |
62,319,670 (GRCm39) |
missense |
probably damaging |
1.00 |
R1993:Zfp808
|
UTSW |
13 |
62,320,721 (GRCm39) |
missense |
probably benign |
0.10 |
R2656:Zfp808
|
UTSW |
13 |
62,320,666 (GRCm39) |
missense |
possibly damaging |
0.63 |
R2938:Zfp808
|
UTSW |
13 |
62,319,032 (GRCm39) |
missense |
probably benign |
|
R3027:Zfp808
|
UTSW |
13 |
62,319,404 (GRCm39) |
missense |
probably benign |
0.33 |
R3777:Zfp808
|
UTSW |
13 |
62,319,717 (GRCm39) |
missense |
probably damaging |
0.97 |
R3779:Zfp808
|
UTSW |
13 |
62,319,717 (GRCm39) |
missense |
probably damaging |
0.97 |
R3801:Zfp808
|
UTSW |
13 |
62,319,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R3802:Zfp808
|
UTSW |
13 |
62,319,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R3804:Zfp808
|
UTSW |
13 |
62,319,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R4024:Zfp808
|
UTSW |
13 |
62,319,544 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4741:Zfp808
|
UTSW |
13 |
62,319,763 (GRCm39) |
missense |
probably damaging |
1.00 |
R4791:Zfp808
|
UTSW |
13 |
62,319,045 (GRCm39) |
missense |
probably damaging |
0.97 |
R4809:Zfp808
|
UTSW |
13 |
62,319,106 (GRCm39) |
nonsense |
probably null |
|
R4907:Zfp808
|
UTSW |
13 |
62,319,287 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5056:Zfp808
|
UTSW |
13 |
62,320,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R5760:Zfp808
|
UTSW |
13 |
62,319,740 (GRCm39) |
missense |
probably damaging |
1.00 |
R5869:Zfp808
|
UTSW |
13 |
62,319,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R6230:Zfp808
|
UTSW |
13 |
62,320,136 (GRCm39) |
missense |
probably benign |
0.19 |
R6372:Zfp808
|
UTSW |
13 |
62,320,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R6545:Zfp808
|
UTSW |
13 |
62,319,709 (GRCm39) |
missense |
probably benign |
0.02 |
R6622:Zfp808
|
UTSW |
13 |
62,319,646 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6813:Zfp808
|
UTSW |
13 |
62,320,849 (GRCm39) |
missense |
probably damaging |
0.99 |
R6920:Zfp808
|
UTSW |
13 |
62,320,982 (GRCm39) |
missense |
probably benign |
0.05 |
R7511:Zfp808
|
UTSW |
13 |
62,320,637 (GRCm39) |
missense |
probably benign |
|
R7666:Zfp808
|
UTSW |
13 |
62,319,225 (GRCm39) |
missense |
probably benign |
|
R7747:Zfp808
|
UTSW |
13 |
62,319,319 (GRCm39) |
missense |
probably benign |
0.39 |
R7763:Zfp808
|
UTSW |
13 |
62,320,478 (GRCm39) |
missense |
probably benign |
0.28 |
R7779:Zfp808
|
UTSW |
13 |
62,320,571 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8147:Zfp808
|
UTSW |
13 |
62,320,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R8182:Zfp808
|
UTSW |
13 |
62,319,521 (GRCm39) |
missense |
probably damaging |
0.96 |
R8260:Zfp808
|
UTSW |
13 |
62,320,552 (GRCm39) |
missense |
probably benign |
0.01 |
R8434:Zfp808
|
UTSW |
13 |
62,319,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R8822:Zfp808
|
UTSW |
13 |
62,320,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R9330:Zfp808
|
UTSW |
13 |
62,319,974 (GRCm39) |
missense |
probably benign |
0.00 |
R9564:Zfp808
|
UTSW |
13 |
62,320,661 (GRCm39) |
missense |
possibly damaging |
0.49 |
RF005:Zfp808
|
UTSW |
13 |
62,319,113 (GRCm39) |
missense |
probably benign |
0.14 |
RF024:Zfp808
|
UTSW |
13 |
62,319,113 (GRCm39) |
missense |
probably benign |
0.14 |
|
Predicted Primers |
PCR Primer
(F):5'- AATACATACTGGAGAGAAGCCCTTC -3'
(R):5'- CCAGTATGTGTTCTTCTATGAGTTTGA -3'
Sequencing Primer
(F):5'- GCCCTTCAAATGTAATCAGTGTG -3'
(R):5'- GAAGGGTTTCTCTCCAGTAT -3'
|
Posted On |
2018-07-24 |