Incidental Mutation 'IGL03184:Zfp808'
ID |
412380 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL03184
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
62277674-62321752 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 62317381 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 43
(I43M)
|
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: I43M
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000097048 Gene: ENSMUSG00000074867 AA Change: I43M
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 |
possibly damaging
Transcript: ENSMUST00000221772
AA Change: I43M
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222809
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222947
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223094
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
C |
13: 77,471,570 (GRCm39) |
Y992H |
possibly damaging |
Het |
Actmap |
A |
G |
7: 26,896,432 (GRCm39) |
|
probably benign |
Het |
Adcy7 |
T |
A |
8: 89,035,271 (GRCm39) |
D58E |
probably benign |
Het |
Aff2 |
G |
A |
X: 68,810,840 (GRCm39) |
V404M |
possibly damaging |
Het |
Ankhd1 |
T |
A |
18: 36,780,830 (GRCm39) |
L1961M |
probably damaging |
Het |
Brms1l |
T |
C |
12: 55,915,062 (GRCm39) |
*324Q |
probably null |
Het |
Bub1b |
T |
C |
2: 118,440,258 (GRCm39) |
|
probably benign |
Het |
Cacna1b |
A |
G |
2: 24,548,501 (GRCm39) |
|
probably null |
Het |
Clrn1 |
T |
A |
3: 58,753,645 (GRCm39) |
T239S |
probably benign |
Het |
Clta |
T |
C |
4: 44,025,514 (GRCm39) |
Y145H |
probably benign |
Het |
Coro6 |
T |
C |
11: 77,354,779 (GRCm39) |
V14A |
probably damaging |
Het |
Cyp4a30b |
A |
G |
4: 115,316,216 (GRCm39) |
D314G |
probably damaging |
Het |
Fn1 |
T |
C |
1: 71,648,656 (GRCm39) |
N1418D |
probably benign |
Het |
Fshr |
A |
C |
17: 89,354,068 (GRCm39) |
L97V |
possibly damaging |
Het |
Gcm2 |
T |
C |
13: 41,258,888 (GRCm39) |
Q152R |
probably damaging |
Het |
Gcnt2 |
A |
G |
13: 41,041,660 (GRCm39) |
N273S |
probably benign |
Het |
Gm11437 |
A |
T |
11: 84,047,090 (GRCm39) |
|
probably benign |
Het |
Gm4559 |
A |
G |
7: 141,828,046 (GRCm39) |
S19P |
unknown |
Het |
Igsf8 |
T |
G |
1: 172,146,199 (GRCm39) |
I462R |
probably damaging |
Het |
Kirrel3 |
T |
C |
9: 34,919,052 (GRCm39) |
F243S |
probably damaging |
Het |
Krt80 |
C |
T |
15: 101,250,135 (GRCm39) |
V37M |
probably damaging |
Het |
Lama4 |
T |
C |
10: 38,954,839 (GRCm39) |
Y1131H |
probably damaging |
Het |
Mrpl21 |
T |
C |
19: 3,342,529 (GRCm39) |
|
probably benign |
Het |
Mtcl1 |
T |
C |
17: 66,661,209 (GRCm39) |
N923S |
probably benign |
Het |
Nectin2 |
G |
A |
7: 19,472,231 (GRCm39) |
P53S |
possibly damaging |
Het |
Nup98 |
G |
A |
7: 101,832,752 (GRCm39) |
T335I |
probably damaging |
Het |
Or2y1e |
C |
A |
11: 49,218,568 (GRCm39) |
T110K |
probably damaging |
Het |
Or4a74 |
T |
C |
2: 89,439,912 (GRCm39) |
D178G |
probably damaging |
Het |
Or4e5 |
A |
G |
14: 52,728,380 (GRCm39) |
S14P |
probably benign |
Het |
Or51a42 |
T |
A |
7: 103,708,054 (GRCm39) |
I252F |
probably damaging |
Het |
Or6c69c |
T |
C |
10: 129,910,627 (GRCm39) |
M116T |
possibly damaging |
Het |
Pcdhb14 |
A |
G |
18: 37,582,085 (GRCm39) |
E397G |
probably benign |
Het |
Pcgf5 |
T |
G |
19: 36,412,076 (GRCm39) |
|
probably benign |
Het |
Pclo |
C |
T |
5: 14,764,457 (GRCm39) |
P1025L |
probably damaging |
Het |
Pdcd1lg2 |
C |
A |
19: 29,431,911 (GRCm39) |
F226L |
probably benign |
Het |
Pik3ca |
T |
A |
3: 32,494,035 (GRCm39) |
S332R |
probably benign |
Het |
Plek |
A |
T |
11: 16,931,887 (GRCm39) |
D321E |
probably benign |
Het |
Pm20d2 |
A |
G |
4: 33,179,241 (GRCm39) |
F333L |
probably damaging |
Het |
Polk |
T |
C |
13: 96,620,491 (GRCm39) |
T570A |
probably benign |
Het |
Rpgrip1l |
G |
A |
8: 92,027,437 (GRCm39) |
L201F |
probably damaging |
Het |
Serpinb2 |
T |
A |
1: 107,452,607 (GRCm39) |
L395H |
probably damaging |
Het |
Slc9c1 |
T |
G |
16: 45,368,003 (GRCm39) |
S197R |
probably damaging |
Het |
Smg1 |
T |
A |
7: 117,779,603 (GRCm39) |
E1264V |
possibly damaging |
Het |
Sned1 |
A |
G |
1: 93,202,390 (GRCm39) |
D678G |
probably benign |
Het |
Sorcs2 |
A |
G |
5: 36,188,556 (GRCm39) |
S851P |
probably benign |
Het |
Srcap |
A |
G |
7: 127,129,674 (GRCm39) |
|
probably benign |
Het |
Tbck |
T |
C |
3: 132,441,864 (GRCm39) |
Y557H |
probably damaging |
Het |
Tfap2d |
T |
C |
1: 19,189,110 (GRCm39) |
S219P |
probably damaging |
Het |
Trim9 |
T |
C |
12: 70,297,995 (GRCm39) |
D570G |
probably damaging |
Het |
Usp25 |
A |
G |
16: 76,878,541 (GRCm39) |
Y655C |
probably damaging |
Het |
Utrn |
T |
A |
10: 12,585,910 (GRCm39) |
T956S |
probably benign |
Het |
Vmn1r68 |
T |
A |
7: 10,261,799 (GRCm39) |
I100F |
probably benign |
Het |
Vps13a |
A |
T |
19: 16,631,734 (GRCm39) |
S2634T |
probably benign |
Het |
Zfp472 |
T |
A |
17: 33,196,390 (GRCm39) |
L155* |
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 |
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 |
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 |
|
Posted On |
2016-08-02 |