Incidental Mutation 'R6230:Zfp808'
| ID |
504635 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp808
|
| Ensembl Gene |
ENSMUSG00000074867 |
| Gene Name |
zinc finger protein 808 |
| Synonyms |
Gm7036 |
| MMRRC Submission |
044359-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R6230 (G1)
|
| Quality Score |
202.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
62277674-62321752 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62320136 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 455
(H455L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097048
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099449]
[ENSMUST00000221772]
|
| AlphaFold |
B8JJZ4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099449
AA Change: H455L
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000097048
Gene: ENSMUSG00000074867
AA Change: H455L
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.1%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp |
T |
C |
2: 168,024,452 (GRCm39) |
T948A |
probably benign |
Het |
| Arhgef12 |
T |
C |
9: 42,900,261 (GRCm39) |
I871V |
probably benign |
Het |
| Atf1 |
T |
C |
15: 100,130,705 (GRCm39) |
V25A |
possibly damaging |
Het |
| Atp23 |
G |
A |
10: 126,723,431 (GRCm39) |
H224Y |
probably benign |
Het |
| Ccpg1 |
A |
G |
9: 72,919,638 (GRCm39) |
T418A |
probably benign |
Het |
| Col27a1 |
T |
C |
4: 63,142,519 (GRCm39) |
I69T |
probably damaging |
Het |
| Cspp1 |
T |
C |
1: 10,147,422 (GRCm39) |
S328P |
probably benign |
Het |
| Cttnbp2nl |
C |
T |
3: 104,918,655 (GRCm39) |
E62K |
probably damaging |
Het |
| Cyp2c39 |
T |
C |
19: 39,525,246 (GRCm39) |
F183S |
probably damaging |
Het |
| Dync2li1 |
T |
C |
17: 84,955,078 (GRCm39) |
S246P |
probably damaging |
Het |
| Ext2 |
A |
G |
2: 93,592,965 (GRCm39) |
I413T |
probably damaging |
Het |
| Fam174a |
T |
C |
1: 95,241,951 (GRCm39) |
V137A |
probably damaging |
Het |
| Flg |
T |
A |
3: 93,186,782 (GRCm39) |
V78E |
probably damaging |
Het |
| Fn3krp |
C |
A |
11: 121,316,418 (GRCm39) |
H111N |
probably damaging |
Het |
| Focad |
T |
C |
4: 88,260,441 (GRCm39) |
I899T |
unknown |
Het |
| Foxq1 |
T |
C |
13: 31,743,491 (GRCm39) |
Y198H |
probably damaging |
Het |
| Gm21060 |
A |
T |
19: 61,285,449 (GRCm39) |
M20K |
probably benign |
Het |
| Kif16b |
A |
T |
2: 142,691,832 (GRCm39) |
N217K |
probably damaging |
Het |
| Klkb1 |
A |
G |
8: 45,736,252 (GRCm39) |
Y162H |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,927,072 (GRCm39) |
|
probably null |
Het |
| Madd |
C |
T |
2: 90,973,866 (GRCm39) |
|
probably null |
Het |
| Mast2 |
T |
A |
4: 116,183,295 (GRCm39) |
H258L |
probably damaging |
Het |
| Musk |
T |
C |
4: 58,367,576 (GRCm39) |
V598A |
probably damaging |
Het |
| Nexn |
T |
A |
3: 151,943,912 (GRCm39) |
Q539L |
probably damaging |
Het |
| Nf2 |
T |
C |
11: 4,758,262 (GRCm39) |
K130E |
possibly damaging |
Het |
| Nlrp14 |
A |
T |
7: 106,781,024 (GRCm39) |
I74F |
probably benign |
Het |
| Omg |
T |
C |
11: 79,393,784 (GRCm39) |
I25V |
probably benign |
Het |
| Or56b35 |
A |
G |
7: 104,963,289 (GRCm39) |
H26R |
possibly damaging |
Het |
| Or8b54 |
T |
G |
9: 38,687,073 (GRCm39) |
I174S |
possibly damaging |
Het |
| Parp4 |
A |
G |
14: 56,844,990 (GRCm39) |
D627G |
probably damaging |
Het |
| Pdia6 |
A |
G |
12: 17,327,214 (GRCm39) |
E126G |
probably benign |
Het |
| Ppp1r2 |
T |
A |
16: 31,079,418 (GRCm39) |
D127V |
possibly damaging |
Het |
| Pramel17 |
T |
A |
4: 101,694,411 (GRCm39) |
E157D |
probably damaging |
Het |
| Rgs22 |
A |
G |
15: 36,100,176 (GRCm39) |
S304P |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rptn |
C |
G |
3: 93,305,437 (GRCm39) |
H923Q |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,674,993 (GRCm39) |
Y3378C |
probably damaging |
Het |
| Shoc1 |
T |
C |
4: 59,099,345 (GRCm39) |
N116D |
probably benign |
Het |
| Slitrk5 |
GACTAC |
GACTACTAC |
14: 111,917,248 (GRCm39) |
|
probably benign |
Het |
| Smurf2 |
T |
C |
11: 106,759,330 (GRCm39) |
|
probably null |
Het |
| Tanc1 |
T |
C |
2: 59,672,375 (GRCm39) |
F1348L |
probably damaging |
Het |
| Tars3 |
A |
T |
7: 65,336,184 (GRCm39) |
|
probably null |
Het |
| Tmem213 |
A |
T |
6: 38,091,551 (GRCm39) |
S52C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,749,778 (GRCm39) |
D3757G |
probably benign |
Het |
| Usp16 |
C |
T |
16: 87,261,686 (GRCm39) |
P101S |
possibly damaging |
Het |
| Usp19 |
G |
A |
9: 108,379,140 (GRCm39) |
M1318I |
probably damaging |
Het |
| Vmn1r75 |
G |
A |
7: 11,614,966 (GRCm39) |
A233T |
probably damaging |
Het |
| Vsir |
A |
T |
10: 60,193,857 (GRCm39) |
N107Y |
probably damaging |
Het |
| Zfp160 |
T |
C |
17: 21,246,707 (GRCm39) |
V419A |
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 |
|
R5869:Zfp808
|
UTSW |
13 |
62,319,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CATACTGGAGAGAAACCCTACAAATG -3'
(R):5'- CTCTCCACTATGTGTTCTTCTATGAG -3'
Sequencing Primer
(F):5'- AGCCTTTTCTGAGAAATGTAGTCTCC -3'
(R):5'- ACATTTGAAGGGTTTCTCTCCAG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation