Incidental Mutation 'R9330:Zfp808'
| ID |
706812 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp808
|
| Ensembl Gene |
ENSMUSG00000074867 |
| Gene Name |
zinc finger protein 808 |
| Synonyms |
Gm7036 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R9330 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
62277674-62321752 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62319974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 401
(H401L)
|
| 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: H401L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000097048
Gene: ENSMUSG00000074867
AA Change: H401L
| 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 |
probably benign
Transcript: ENSMUST00000221772
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
A |
5: 113,330,833 (GRCm39) |
D1127V |
probably benign |
Het |
| Ajap1 |
A |
G |
4: 153,516,961 (GRCm39) |
S127P |
probably damaging |
Het |
| Cdon |
T |
A |
9: 35,400,275 (GRCm39) |
Y996* |
probably null |
Het |
| Cnr2 |
A |
G |
4: 135,644,312 (GRCm39) |
D130G |
probably damaging |
Het |
| Cyp2j12 |
A |
G |
4: 95,994,791 (GRCm39) |
V344A |
probably damaging |
Het |
| Cyp4a32 |
T |
A |
4: 115,478,635 (GRCm39) |
C456S |
probably damaging |
Het |
| Dipk1a |
A |
T |
5: 108,059,583 (GRCm39) |
D123E |
probably benign |
Het |
| Dsc1 |
T |
A |
18: 20,243,214 (GRCm39) |
T80S |
possibly damaging |
Het |
| Esyt2 |
G |
A |
12: 116,305,765 (GRCm39) |
V332I |
probably benign |
Het |
| Fcgbpl1 |
C |
T |
7: 27,856,410 (GRCm39) |
H2066Y |
probably benign |
Het |
| G2e3 |
C |
T |
12: 51,403,928 (GRCm39) |
Q161* |
probably null |
Het |
| Galnt18 |
C |
A |
7: 111,071,271 (GRCm39) |
R566L |
probably benign |
Het |
| Gatb |
C |
T |
3: 85,559,801 (GRCm39) |
P542S |
probably benign |
Het |
| Gpt |
G |
A |
15: 76,581,215 (GRCm39) |
R53H |
possibly damaging |
Het |
| Herpud2 |
T |
C |
9: 25,036,246 (GRCm39) |
E138G |
probably damaging |
Het |
| Hivep1 |
A |
G |
13: 42,317,713 (GRCm39) |
Y2063C |
probably damaging |
Het |
| Hoxd12 |
T |
A |
2: 74,505,733 (GRCm39) |
Y101* |
probably null |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Lama4 |
T |
C |
10: 38,954,722 (GRCm39) |
F1092L |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 41,012,993 (GRCm39) |
S1985P |
|
Het |
| Malrd1 |
C |
T |
2: 16,260,089 (GRCm39) |
P2103L |
unknown |
Het |
| Mbnl1 |
C |
A |
3: 60,511,168 (GRCm39) |
N41K |
possibly damaging |
Het |
| Muc16 |
T |
C |
9: 18,552,332 (GRCm39) |
N4654D |
probably benign |
Het |
| Mug1 |
A |
G |
6: 121,859,723 (GRCm39) |
T1241A |
probably benign |
Het |
| Ncam1 |
T |
C |
9: 49,456,097 (GRCm39) |
D507G |
probably benign |
Het |
| Nfxl1 |
A |
T |
5: 72,681,451 (GRCm39) |
D693E |
probably benign |
Het |
| Npr1 |
A |
T |
3: 90,365,979 (GRCm39) |
I604N |
possibly damaging |
Het |
| Obscn |
G |
A |
11: 58,971,047 (GRCm39) |
H2280Y |
possibly damaging |
Het |
| Or5b105 |
T |
A |
19: 13,080,588 (GRCm39) |
I27F |
probably benign |
Het |
| Or7c70 |
T |
C |
10: 78,683,153 (GRCm39) |
T199A |
probably benign |
Het |
| Pcdh10 |
T |
C |
3: 45,335,618 (GRCm39) |
V644A |
probably damaging |
Het |
| Pgk2 |
T |
A |
17: 40,519,078 (GRCm39) |
I117F |
probably benign |
Het |
| Pinx1 |
T |
A |
14: 64,109,777 (GRCm39) |
S110T |
probably benign |
Het |
| Pira1 |
A |
T |
7: 3,742,234 (GRCm39) |
C98S |
probably damaging |
Het |
| Psmd1 |
A |
G |
1: 86,061,490 (GRCm39) |
Y900C |
probably damaging |
Het |
| Rab3a |
C |
T |
8: 71,209,881 (GRCm39) |
R149C |
probably damaging |
Het |
| Samsn1 |
T |
A |
16: 75,673,433 (GRCm39) |
N148Y |
probably damaging |
Het |
| Sin3a |
C |
T |
9: 57,032,481 (GRCm39) |
R1142C |
probably damaging |
Het |
| Snrnp27 |
A |
G |
6: 86,653,184 (GRCm39) |
C145R |
probably benign |
Het |
| Sorl1 |
A |
C |
9: 41,979,229 (GRCm39) |
V423G |
probably damaging |
Het |
| Sptlc3 |
G |
T |
2: 139,388,423 (GRCm39) |
M138I |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,065,143 (GRCm39) |
F1524L |
probably benign |
Het |
| Tln2 |
T |
C |
9: 67,229,213 (GRCm39) |
N113D |
possibly damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tnfsf14 |
T |
A |
17: 57,501,020 (GRCm39) |
D17V |
probably damaging |
Het |
| Trmt44 |
T |
C |
5: 35,727,264 (GRCm39) |
D317G |
probably damaging |
Het |
| Trpc2 |
T |
C |
7: 101,739,764 (GRCm39) |
F563L |
probably benign |
Het |
| Ubox5 |
T |
C |
2: 130,442,165 (GRCm39) |
K174R |
probably benign |
Het |
| Vrk3 |
T |
C |
7: 44,424,910 (GRCm39) |
S442P |
probably damaging |
Het |
| Wdr64 |
A |
T |
1: 175,554,024 (GRCm39) |
T185S |
possibly damaging |
Het |
| Wfdc15a |
A |
T |
2: 164,041,632 (GRCm39) |
C64S |
probably damaging |
Het |
| Zfp688 |
A |
G |
7: 127,021,077 (GRCm39) |
Y34H |
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 |
|
|
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 |
|
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'- AGCCTTTTCTCAATACGGTAATCTTCA -3'
(R):5'- TGAGAAAAGGCTTTATCACACTG -3'
Sequencing Primer
(F):5'- TACTGGAGAGAAACCCTTCAAATG -3'
(R):5'- ACATTTGAAGGGCTTCTCTCCAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation