Incidental Mutation 'R2656:Zfp808'
ID |
252791 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp808
|
Ensembl Gene |
ENSMUSG00000074867 |
Gene Name |
zinc finger protein 808 |
Synonyms |
Gm7036 |
MMRRC Submission |
040431-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R2656 (G1)
|
Quality Score |
197 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
62277674-62321752 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 62320666 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 632
(T632A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097048
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099449]
[ENSMUST00000221772]
|
AlphaFold |
B8JJZ4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099449
AA Change: T632A
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000097048 Gene: ENSMUSG00000074867 AA Change: T632A
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: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam22 |
A |
G |
5: 8,167,696 (GRCm39) |
C655R |
probably damaging |
Het |
Adgrf3 |
A |
T |
5: 30,401,436 (GRCm39) |
V864D |
possibly damaging |
Het |
Angptl3 |
A |
G |
4: 98,926,201 (GRCm39) |
I444V |
probably benign |
Het |
Atp8b2 |
C |
T |
3: 89,849,065 (GRCm39) |
A1090T |
probably benign |
Het |
Bcl2l2 |
C |
T |
14: 55,122,889 (GRCm39) |
R47C |
probably benign |
Het |
Ces2a |
G |
A |
8: 105,462,766 (GRCm39) |
M118I |
probably benign |
Het |
Cyp4a29 |
T |
G |
4: 115,106,921 (GRCm39) |
L193V |
possibly damaging |
Het |
Dpp8 |
A |
G |
9: 64,988,086 (GRCm39) |
Y877C |
probably damaging |
Het |
Enpp6 |
C |
T |
8: 47,535,453 (GRCm39) |
R33* |
probably null |
Het |
Fsip2 |
G |
A |
2: 82,809,389 (GRCm39) |
D1903N |
possibly damaging |
Het |
Ggt1 |
T |
A |
10: 75,417,219 (GRCm39) |
Y5* |
probably null |
Het |
Gm14412 |
A |
T |
2: 177,006,993 (GRCm39) |
C301S |
unknown |
Het |
Gpatch2l |
T |
A |
12: 86,335,584 (GRCm39) |
D428E |
probably damaging |
Het |
Grin2b |
C |
T |
6: 135,710,427 (GRCm39) |
G1040S |
probably damaging |
Het |
Has2 |
T |
C |
15: 56,545,224 (GRCm39) |
D126G |
possibly damaging |
Het |
Itgam |
T |
G |
7: 127,715,987 (GRCm39) |
L1120R |
probably null |
Het |
Kank4 |
T |
C |
4: 98,667,194 (GRCm39) |
N418D |
probably damaging |
Het |
Kcnk3 |
T |
C |
5: 30,780,015 (GRCm39) |
V355A |
possibly damaging |
Het |
Lonrf2 |
C |
T |
1: 38,855,041 (GRCm39) |
|
probably null |
Het |
Lrp1b |
A |
T |
2: 41,401,593 (GRCm39) |
C240S |
probably damaging |
Het |
Mapk8ip3 |
T |
G |
17: 25,131,781 (GRCm39) |
E386A |
probably damaging |
Het |
Mtmr14 |
A |
G |
6: 113,217,327 (GRCm39) |
I80V |
probably benign |
Het |
Nav2 |
A |
C |
7: 49,195,690 (GRCm39) |
D961A |
probably damaging |
Het |
Nmt2 |
A |
G |
2: 3,308,050 (GRCm39) |
D107G |
probably benign |
Het |
Nsd1 |
A |
G |
13: 55,394,681 (GRCm39) |
K761E |
probably damaging |
Het |
Ogdh |
A |
G |
11: 6,298,678 (GRCm39) |
T641A |
probably benign |
Het |
Ogdhl |
T |
G |
14: 32,054,783 (GRCm39) |
F244V |
possibly damaging |
Het |
Or2ag17 |
T |
A |
7: 106,389,720 (GRCm39) |
T163S |
probably damaging |
Het |
Or51k1 |
G |
A |
7: 103,661,072 (GRCm39) |
S279L |
probably damaging |
Het |
Or5b102 |
A |
T |
19: 13,041,348 (GRCm39) |
H191L |
probably benign |
Het |
Or5b97 |
A |
G |
19: 12,879,030 (GRCm39) |
I38T |
probably benign |
Het |
Pfpl |
T |
C |
19: 12,407,600 (GRCm39) |
I617T |
probably benign |
Het |
Ppfia2 |
T |
G |
10: 106,701,268 (GRCm39) |
|
probably null |
Het |
Prickle1 |
T |
C |
15: 93,401,251 (GRCm39) |
E411G |
probably benign |
Het |
Prpsap2 |
C |
A |
11: 61,621,051 (GRCm39) |
M343I |
probably benign |
Het |
Prpsap2 |
A |
G |
11: 61,643,717 (GRCm39) |
V72A |
probably benign |
Het |
Ranbp17 |
A |
T |
11: 33,193,122 (GRCm39) |
D977E |
probably benign |
Het |
Rin1 |
T |
C |
19: 5,102,204 (GRCm39) |
S238P |
probably damaging |
Het |
Scap |
C |
T |
9: 110,203,087 (GRCm39) |
R254W |
probably damaging |
Het |
Scn3a |
T |
C |
2: 65,356,862 (GRCm39) |
D194G |
probably damaging |
Het |
Shisa7 |
T |
C |
7: 4,832,818 (GRCm39) |
H481R |
possibly damaging |
Het |
Slc6a6 |
T |
C |
6: 91,718,029 (GRCm39) |
Y323H |
probably damaging |
Het |
Thoc2l |
A |
G |
5: 104,667,181 (GRCm39) |
I568V |
probably benign |
Het |
Tlr9 |
T |
C |
9: 106,101,140 (GRCm39) |
S144P |
probably benign |
Het |
Tmem69 |
T |
A |
4: 116,410,787 (GRCm39) |
K61M |
probably damaging |
Het |
Ttc21a |
A |
G |
9: 119,770,331 (GRCm39) |
D134G |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,724,614 (GRCm39) |
|
probably benign |
Het |
Vwf |
A |
G |
6: 125,532,324 (GRCm39) |
T26A |
probably benign |
Het |
Zbtb16 |
A |
T |
9: 48,743,988 (GRCm39) |
I108N |
probably damaging |
Het |
Zc3h7b |
T |
A |
15: 81,664,631 (GRCm39) |
Y497N |
probably damaging |
Het |
Zfp652 |
A |
G |
11: 95,640,155 (GRCm39) |
S27G |
probably damaging |
Het |
Znhit6 |
T |
C |
3: 145,283,924 (GRCm39) |
|
probably null |
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 |
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 |
PCR Primer
(F):5'- GAAGCCCTTCAAATGTAATCAGTG -3'
(R):5'- TTGTAGGGTTTCTCTCCAGTATG -3'
Sequencing Primer
(F):5'- TGGAGAGAAACCCTTCAAATGTAGTC -3'
(R):5'- TCTCCAGTATGTGTTCTTCTATGAG -3'
|
Posted On |
2014-12-04 |