Incidental Mutation 'R0635:Zfp808'
| ID |
56628 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp808
|
| Ensembl Gene |
ENSMUSG00000074867 |
| Gene Name |
zinc finger protein 808 |
| Synonyms |
Gm7036 |
| MMRRC Submission |
038824-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R0635 (G1)
|
| Quality Score |
128 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
62277674-62321752 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 62320233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 487
(H487Q)
|
| 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: H487Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097048
Gene: ENSMUSG00000074867
AA Change: H487Q
| 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 |
0.5223 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.9%
|
| Validation Efficiency |
99% (68/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
A |
T |
11: 80,264,891 (GRCm39) |
|
probably benign |
Het |
| Adamts15 |
A |
G |
9: 30,816,066 (GRCm39) |
L631P |
probably damaging |
Het |
| Adamts17 |
T |
C |
7: 66,558,353 (GRCm39) |
F266L |
probably damaging |
Het |
| Adgrb1 |
C |
A |
15: 74,412,741 (GRCm39) |
Q488K |
possibly damaging |
Het |
| Armh4 |
A |
G |
14: 50,010,600 (GRCm39) |
L369S |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,328,538 (GRCm39) |
D109G |
probably damaging |
Het |
| Chil5 |
A |
T |
3: 105,924,519 (GRCm39) |
Y229N |
possibly damaging |
Het |
| Cntnap1 |
A |
G |
11: 101,074,285 (GRCm39) |
T742A |
probably benign |
Het |
| Col6a3 |
A |
T |
1: 90,735,808 (GRCm39) |
|
probably null |
Het |
| Col6a5 |
G |
A |
9: 105,805,805 (GRCm39) |
P1034S |
unknown |
Het |
| Daxx |
T |
A |
17: 34,131,618 (GRCm39) |
D442E |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 49,984,490 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,971,731 (GRCm39) |
F2942S |
probably damaging |
Het |
| Garin4 |
T |
C |
1: 190,895,924 (GRCm39) |
T240A |
probably benign |
Het |
| Glg1 |
A |
G |
8: 111,890,396 (GRCm39) |
|
probably benign |
Het |
| Gm10272 |
G |
A |
10: 77,542,535 (GRCm39) |
|
probably benign |
Het |
| Gm17333 |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
16: 77,649,766 (GRCm39) |
|
noncoding transcript |
Het |
| Haao |
A |
G |
17: 84,146,003 (GRCm39) |
F83S |
probably damaging |
Het |
| Hdgfl2 |
T |
A |
17: 56,403,057 (GRCm39) |
L177Q |
probably damaging |
Het |
| Hrh1 |
T |
C |
6: 114,457,106 (GRCm39) |
V129A |
probably damaging |
Het |
| Ift43 |
T |
A |
12: 86,131,855 (GRCm39) |
|
probably benign |
Het |
| Il21r |
T |
C |
7: 125,231,678 (GRCm39) |
Y369H |
probably damaging |
Het |
| Il2ra |
C |
T |
2: 11,685,177 (GRCm39) |
T171M |
probably benign |
Het |
| Lao1 |
C |
T |
4: 118,825,493 (GRCm39) |
R438C |
probably benign |
Het |
| Lrrcc1 |
G |
A |
3: 14,624,288 (GRCm39) |
S350N |
probably benign |
Het |
| Mageb5 |
T |
A |
X: 90,823,599 (GRCm39) |
Y260F |
probably benign |
Het |
| Marchf5 |
A |
T |
19: 37,197,807 (GRCm39) |
I159F |
possibly damaging |
Het |
| Mgat4a |
G |
A |
1: 37,491,375 (GRCm39) |
A282V |
probably benign |
Het |
| Mipep |
G |
A |
14: 61,066,839 (GRCm39) |
V420I |
probably damaging |
Het |
| Morc2b |
A |
T |
17: 33,356,661 (GRCm39) |
F370L |
possibly damaging |
Het |
| Mt1 |
A |
T |
8: 94,906,449 (GRCm39) |
|
probably null |
Het |
| Ncapd2 |
A |
G |
6: 125,149,999 (GRCm39) |
V943A |
probably benign |
Het |
| Nkd2 |
T |
C |
13: 73,975,013 (GRCm39) |
D58G |
probably benign |
Het |
| Nol8 |
C |
G |
13: 49,830,234 (GRCm39) |
S1106C |
probably benign |
Het |
| Nrm |
C |
A |
17: 36,175,156 (GRCm39) |
Y61* |
probably null |
Het |
| Nusap1 |
A |
G |
2: 119,458,148 (GRCm39) |
T95A |
probably damaging |
Het |
| Ocln |
T |
A |
13: 100,642,744 (GRCm39) |
Q197L |
probably damaging |
Het |
| Or5p70 |
T |
A |
7: 107,994,971 (GRCm39) |
F215I |
probably benign |
Het |
| Oxtr |
A |
G |
6: 112,466,161 (GRCm39) |
Y200H |
probably damaging |
Het |
| Paip2b |
T |
C |
6: 83,786,891 (GRCm39) |
E115G |
possibly damaging |
Het |
| Pcm1 |
T |
A |
8: 41,720,216 (GRCm39) |
|
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,240,419 (GRCm39) |
D1205G |
probably damaging |
Het |
| Phka1 |
G |
A |
X: 101,665,006 (GRCm39) |
R186C |
probably damaging |
Het |
| Pik3cb |
A |
G |
9: 98,946,271 (GRCm39) |
|
probably benign |
Het |
| Pik3r1 |
C |
T |
13: 101,893,926 (GRCm39) |
R81K |
probably benign |
Het |
| Ppa1 |
A |
G |
10: 61,501,219 (GRCm39) |
D162G |
probably benign |
Het |
| Ppa1 |
A |
G |
10: 61,502,749 (GRCm39) |
R191G |
probably damaging |
Het |
| Ppp4r3c2 |
T |
C |
X: 88,796,128 (GRCm39) |
|
probably benign |
Het |
| Prss22 |
T |
A |
17: 24,215,662 (GRCm39) |
T87S |
probably benign |
Het |
| Rgr |
T |
A |
14: 36,760,904 (GRCm39) |
R218* |
probably null |
Het |
| Rreb1 |
A |
T |
13: 38,125,540 (GRCm39) |
Q1282L |
possibly damaging |
Het |
| Scel |
T |
A |
14: 103,820,575 (GRCm39) |
|
probably null |
Het |
| Sema6b |
A |
G |
17: 56,436,971 (GRCm39) |
|
probably null |
Het |
| Slc4a1 |
T |
C |
11: 102,243,498 (GRCm39) |
E711G |
possibly damaging |
Het |
| Snx19 |
C |
A |
9: 30,340,106 (GRCm39) |
L415M |
probably damaging |
Het |
| Snx19 |
T |
G |
9: 30,340,107 (GRCm39) |
L415R |
probably damaging |
Het |
| Specc1 |
G |
A |
11: 62,009,729 (GRCm39) |
R495Q |
probably damaging |
Het |
| Tead1 |
T |
C |
7: 112,490,913 (GRCm39) |
|
probably benign |
Het |
| Timm10b |
A |
C |
7: 105,289,895 (GRCm39) |
|
probably benign |
Het |
| Ubxn7 |
T |
A |
16: 32,186,235 (GRCm39) |
|
probably benign |
Het |
| Vmn2r116 |
T |
A |
17: 23,605,861 (GRCm39) |
Y258N |
possibly damaging |
Het |
| Vmn2r77 |
T |
A |
7: 86,460,383 (GRCm39) |
F570I |
probably benign |
Het |
| Vmn2r98 |
T |
C |
17: 19,300,759 (GRCm39) |
V587A |
probably benign |
Het |
| Zfp398 |
T |
C |
6: 47,840,074 (GRCm39) |
I101T |
probably 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 |
|
|
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 |
|
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 |
|
| Posted On |
2013-07-11 |
Incidental Mutation