Incidental Mutation 'R5869:Zfp808'
ID |
454349 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp808
|
Ensembl Gene |
ENSMUSG00000074867 |
Gene Name |
zinc finger protein 808 |
Synonyms |
Gm7036 |
MMRRC Submission |
044077-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R5869 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
62277674-62321752 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 62319069 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 99
(H99Q)
|
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: H99Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097048 Gene: ENSMUSG00000074867 AA Change: H99Q
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: I79K
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222809
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222947
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223094
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
Validation Efficiency |
93% (68/73) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adarb1 |
T |
C |
10: 77,161,450 (GRCm39) |
|
probably benign |
Het |
Arsk |
T |
C |
13: 76,239,903 (GRCm39) |
E100G |
probably benign |
Het |
Ascc3 |
C |
T |
10: 50,718,279 (GRCm39) |
R1991* |
probably null |
Het |
Aspscr1 |
T |
C |
11: 120,579,746 (GRCm39) |
I31T |
possibly damaging |
Het |
Asz1 |
T |
C |
6: 18,074,939 (GRCm39) |
|
probably benign |
Het |
Calm5 |
T |
A |
13: 3,904,321 (GRCm39) |
|
probably benign |
Het |
Car5a |
G |
A |
8: 122,643,119 (GRCm39) |
T295I |
probably benign |
Het |
Ccdc174 |
T |
A |
6: 91,862,399 (GRCm39) |
|
probably benign |
Het |
Celsr2 |
G |
A |
3: 108,321,225 (GRCm39) |
A529V |
probably damaging |
Het |
Cep192 |
A |
G |
18: 67,948,935 (GRCm39) |
D252G |
probably benign |
Het |
Clcnka |
A |
G |
4: 141,122,276 (GRCm39) |
F217L |
probably benign |
Het |
Cnot3 |
A |
T |
7: 3,647,929 (GRCm39) |
|
probably benign |
Het |
Coro1c |
A |
G |
5: 113,988,907 (GRCm39) |
|
probably benign |
Het |
Cstf3 |
A |
G |
2: 104,489,585 (GRCm39) |
|
probably null |
Het |
Dcdc2a |
C |
T |
13: 25,291,713 (GRCm39) |
P233S |
probably benign |
Het |
Ddx55 |
A |
G |
5: 124,706,745 (GRCm39) |
T581A |
probably benign |
Het |
Exo1 |
T |
C |
1: 175,728,849 (GRCm39) |
S638P |
possibly damaging |
Het |
Fam135a |
T |
C |
1: 24,068,511 (GRCm39) |
E616G |
possibly damaging |
Het |
Fignl2 |
T |
C |
15: 100,951,161 (GRCm39) |
S374G |
unknown |
Het |
Gm4799 |
A |
T |
10: 82,790,283 (GRCm39) |
|
noncoding transcript |
Het |
Hectd4 |
T |
C |
5: 121,481,288 (GRCm39) |
|
probably null |
Het |
Ighv1-76 |
T |
C |
12: 115,811,658 (GRCm39) |
E65G |
probably damaging |
Het |
Igsf9b |
C |
A |
9: 27,234,531 (GRCm39) |
H465Q |
probably benign |
Het |
Itga9 |
A |
G |
9: 118,492,957 (GRCm39) |
D284G |
probably damaging |
Het |
Itpr1 |
T |
C |
6: 108,450,490 (GRCm39) |
S1940P |
probably benign |
Het |
Kcnb1 |
A |
G |
2: 167,029,991 (GRCm39) |
S185P |
probably benign |
Het |
Kif20a |
G |
A |
18: 34,765,468 (GRCm39) |
A822T |
probably benign |
Het |
Krt1 |
A |
T |
15: 101,758,566 (GRCm39) |
F199L |
probably damaging |
Het |
Lpin2 |
A |
G |
17: 71,539,271 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
A |
C |
2: 40,894,615 (GRCm39) |
D2204E |
probably damaging |
Het |
Mier3 |
T |
A |
13: 111,851,384 (GRCm39) |
N427K |
probably damaging |
Het |
Mmp12 |
GTAATAATAATAATAATAAT |
GTAATAATAATAATAAT |
9: 7,348,446 (GRCm39) |
|
probably benign |
Het |
Mroh3 |
T |
A |
1: 136,113,861 (GRCm39) |
M643L |
probably benign |
Het |
Myh11 |
A |
G |
16: 14,048,664 (GRCm39) |
S548P |
probably damaging |
Het |
Nat8f6 |
A |
C |
6: 85,785,505 (GRCm39) |
L215V |
possibly damaging |
Het |
Nlrp3 |
G |
A |
11: 59,438,960 (GRCm39) |
R179Q |
probably damaging |
Het |
Nup88 |
T |
C |
11: 70,860,497 (GRCm39) |
E94G |
probably benign |
Het |
Pias1 |
A |
T |
9: 62,820,048 (GRCm39) |
D306E |
probably benign |
Het |
Pick1 |
A |
G |
15: 79,133,095 (GRCm39) |
D385G |
probably benign |
Het |
Pitx3 |
A |
T |
19: 46,125,735 (GRCm39) |
|
probably benign |
Het |
Plpp3 |
T |
A |
4: 105,052,159 (GRCm39) |
|
probably null |
Het |
Prlhr |
C |
A |
19: 60,456,059 (GRCm39) |
R169L |
probably damaging |
Het |
Ptprf |
A |
C |
4: 118,067,579 (GRCm39) |
M1872R |
probably damaging |
Het |
Ptprh |
T |
C |
7: 4,604,939 (GRCm39) |
D35G |
probably benign |
Het |
Rnf130 |
A |
G |
11: 49,976,642 (GRCm39) |
|
probably null |
Het |
Rnf17 |
A |
C |
14: 56,743,445 (GRCm39) |
E1337A |
possibly damaging |
Het |
Sdk2 |
A |
G |
11: 113,742,708 (GRCm39) |
Y734H |
probably damaging |
Het |
Slc25a10 |
C |
T |
11: 120,388,943 (GRCm39) |
T269I |
probably damaging |
Het |
Slc4a11 |
A |
C |
2: 130,526,379 (GRCm39) |
V855G |
probably benign |
Het |
Slc5a5 |
C |
A |
8: 71,344,974 (GRCm39) |
R111L |
probably damaging |
Het |
Spart |
A |
T |
3: 55,042,931 (GRCm39) |
M616L |
probably benign |
Het |
Tmem229a |
T |
C |
6: 24,954,686 (GRCm39) |
D356G |
probably damaging |
Het |
Tmem30c |
A |
G |
16: 57,086,925 (GRCm39) |
S293P |
probably damaging |
Het |
Tnfrsf14 |
C |
A |
4: 155,011,055 (GRCm39) |
|
probably null |
Het |
Tnfrsf19 |
C |
T |
14: 61,208,627 (GRCm39) |
R298H |
possibly damaging |
Het |
Ttc21a |
A |
G |
9: 119,787,858 (GRCm39) |
K809E |
probably benign |
Het |
Ttn |
G |
A |
2: 76,580,553 (GRCm39) |
P23447S |
probably damaging |
Het |
Uap1 |
T |
A |
1: 169,978,707 (GRCm39) |
|
probably null |
Het |
Wdr82 |
A |
G |
9: 106,062,503 (GRCm39) |
Q252R |
probably benign |
Het |
Zfp523 |
T |
C |
17: 28,413,967 (GRCm39) |
I34T |
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 |
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 |
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'- CTCAGCAGTTAAGAGCACCAAA -3'
(R):5'- CACAGATTACATTTGAAGGGTTTCT -3'
Sequencing Primer
(F):5'- GACAGGACAGCTACAGTGTACTTAC -3'
(R):5'- ACATATGAAGGGTTGCTCTACG -3'
|
Posted On |
2017-02-10 |