Incidental Mutation 'R3777:Zfp808'
| ID |
271864 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp808
|
| Ensembl Gene |
ENSMUSG00000074867 |
| Gene Name |
zinc finger protein 808 |
| Synonyms |
Gm7036 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R3777 (G1)
|
| Quality Score |
147 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
62277674-62321752 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 62319717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 315
(N315K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097048
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099449]
[ENSMUST00000221772]
|
| AlphaFold |
B8JJZ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099449
AA Change: N315K
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000097048
Gene: ENSMUSG00000074867
AA Change: N315K
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Dsg1b |
G |
A |
18: 20,532,644 (GRCm39) |
V563I |
probably damaging |
Het |
| Elovl4 |
ACT |
A |
9: 83,667,201 (GRCm39) |
|
probably null |
Het |
| Erp27 |
A |
T |
6: 136,896,901 (GRCm39) |
N100K |
possibly damaging |
Het |
| Fam171b |
T |
A |
2: 83,708,605 (GRCm39) |
I369K |
probably benign |
Het |
| Fmn1 |
A |
G |
2: 113,195,467 (GRCm39) |
E389G |
unknown |
Het |
| Gm14569 |
T |
A |
X: 35,696,085 (GRCm39) |
M875L |
probably benign |
Het |
| Gm5819 |
A |
G |
18: 8,694,429 (GRCm39) |
E118G |
probably damaging |
Het |
| Grip1 |
G |
A |
10: 119,821,535 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
C |
A |
13: 12,428,229 (GRCm39) |
L789I |
possibly damaging |
Het |
| Hsd17b1 |
T |
C |
11: 100,969,529 (GRCm39) |
S59P |
probably damaging |
Het |
| Ighv1-72 |
A |
T |
12: 115,721,636 (GRCm39) |
S107T |
probably damaging |
Het |
| Inpp4b |
T |
A |
8: 82,768,621 (GRCm39) |
V710D |
possibly damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Larp4 |
T |
A |
15: 99,888,238 (GRCm39) |
W92R |
probably damaging |
Het |
| Man2b2 |
T |
C |
5: 36,972,871 (GRCm39) |
N548D |
probably benign |
Het |
| Mfsd4b2 |
A |
G |
10: 39,797,527 (GRCm39) |
I276T |
possibly damaging |
Het |
| Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
| Myl12a |
G |
T |
17: 71,301,631 (GRCm39) |
H165Q |
possibly damaging |
Het |
| Myo18b |
T |
A |
5: 112,905,462 (GRCm39) |
E2045D |
probably damaging |
Het |
| Mypn |
T |
C |
10: 62,983,761 (GRCm39) |
T496A |
possibly damaging |
Het |
| Ncoa7 |
A |
G |
10: 30,565,752 (GRCm39) |
Y632H |
probably damaging |
Het |
| Or13c3 |
A |
T |
4: 52,855,636 (GRCm39) |
N292K |
probably damaging |
Het |
| Or2d4 |
A |
T |
7: 106,543,519 (GRCm39) |
S230T |
probably benign |
Het |
| Or4b13 |
T |
C |
2: 90,082,969 (GRCm39) |
Y121C |
probably damaging |
Het |
| Or5p52 |
C |
A |
7: 107,501,954 (GRCm39) |
A10E |
probably benign |
Het |
| Or8g33 |
A |
T |
9: 39,337,901 (GRCm39) |
S155R |
possibly damaging |
Het |
| Pik3c2g |
A |
T |
6: 139,599,385 (GRCm39) |
Y167F |
probably damaging |
Het |
| Pik3cg |
A |
C |
12: 32,244,708 (GRCm39) |
C915W |
probably damaging |
Het |
| Ppfibp2 |
A |
G |
7: 107,328,396 (GRCm39) |
T476A |
probably benign |
Het |
| Rapgef1 |
C |
T |
2: 29,609,701 (GRCm39) |
H675Y |
possibly damaging |
Het |
| Rpn2 |
T |
A |
2: 157,141,477 (GRCm39) |
V263D |
probably damaging |
Het |
| Rps13 |
A |
G |
7: 115,933,160 (GRCm39) |
L16P |
probably damaging |
Het |
| Rsph14 |
C |
G |
10: 74,793,419 (GRCm39) |
Q360H |
possibly damaging |
Het |
| Rsph14 |
T |
G |
10: 74,793,420 (GRCm39) |
Q360P |
possibly damaging |
Het |
| Semp2l2b |
T |
C |
10: 21,942,861 (GRCm39) |
E373G |
probably damaging |
Het |
| Smarcc2 |
G |
A |
10: 128,318,812 (GRCm39) |
|
probably null |
Het |
| Sp8 |
G |
T |
12: 118,812,750 (GRCm39) |
V202L |
possibly damaging |
Het |
| Spag9 |
G |
A |
11: 93,989,852 (GRCm39) |
|
probably null |
Het |
| Svil |
A |
G |
18: 5,090,855 (GRCm39) |
N915S |
probably damaging |
Het |
| Syt17 |
A |
G |
7: 118,033,180 (GRCm39) |
L215P |
probably damaging |
Het |
| Tle6 |
G |
T |
10: 81,431,987 (GRCm39) |
P86T |
probably benign |
Het |
| Tph2 |
T |
C |
10: 114,915,910 (GRCm39) |
D421G |
probably benign |
Het |
| Trpm2 |
A |
C |
10: 77,771,824 (GRCm39) |
L605R |
probably benign |
Het |
| Vat1l |
T |
C |
8: 114,963,540 (GRCm39) |
|
probably null |
Het |
| Vdac3 |
T |
C |
8: 23,070,525 (GRCm39) |
N128D |
probably benign |
Het |
| Vegfb |
G |
A |
19: 6,964,767 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R6620:Zfp808
|
UTSW |
13 |
62,320,638 (GRCm39) |
missense |
probably benign |
0.08 |
|
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'- GAGAAACCCTACAAATGTGATCAA -3'
(R):5'- GTAAGGCTTCTCTCCAGTATGTGTT -3'
Sequencing Primer
(F):5'- AACCTTTTCTGAGAAATGTCATCTCC -3'
(R):5'- ACATTTGTAGGGTTTCTCTCCAG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation