Incidental Mutation 'R2171:Zfp804a'
| ID |
237459 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp804a
|
| Ensembl Gene |
ENSMUSG00000070866 |
| Gene Name |
zinc finger protein 804A |
| Synonyms |
|
| MMRRC Submission |
040173-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.269)
|
| Stock # |
R2171 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
82053222-82259879 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 82257183 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 452
(C452Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047527]
|
| AlphaFold |
A2AKY4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047527
AA Change: C452Y
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000041941
Gene: ENSMUSG00000070866
AA Change: C452Y
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
57 |
81 |
7.29e0 |
SMART |
|
low complexity region
|
588 |
595 |
N/A |
INTRINSIC |
|
low complexity region
|
801 |
808 |
N/A |
INTRINSIC |
|
low complexity region
|
1012 |
1029 |
N/A |
INTRINSIC |
|
low complexity region
|
1061 |
1077 |
N/A |
INTRINSIC |
|
low complexity region
|
1168 |
1191 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127187
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger binding protein. Polymorphisms in this gene, especially rs1344706, are thought to confer increased susceptibility to schizophrenia, bipolar disorder, and heroin addiciton. [provided by RefSeq, Nov 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abt1 |
A |
G |
13: 23,422,217 (GRCm38) |
L189P |
probably damaging |
Het |
| Adgrl3 |
C |
A |
5: 81,512,515 (GRCm38) |
S377* |
probably null |
Het |
| Adgrv1 |
A |
G |
13: 81,270,918 (GRCm38) |
V5986A |
probably damaging |
Het |
| Arv1 |
T |
G |
8: 124,728,355 (GRCm38) |
C102W |
probably damaging |
Het |
| Asb18 |
T |
C |
1: 89,968,697 (GRCm38) |
H207R |
probably benign |
Het |
| Bach2 |
T |
C |
4: 32,501,662 (GRCm38) |
V13A |
probably damaging |
Het |
| Bccip |
T |
C |
7: 133,719,114 (GRCm38) |
S206P |
probably benign |
Het |
| Cdhr4 |
T |
C |
9: 107,992,918 (GRCm38) |
S41P |
probably benign |
Het |
| Chd7 |
A |
G |
4: 8,752,424 (GRCm38) |
Y307C |
probably damaging |
Het |
| Clec4f |
A |
T |
6: 83,652,864 (GRCm38) |
S237R |
possibly damaging |
Het |
| Cntnap5a |
A |
G |
1: 116,188,402 (GRCm38) |
D538G |
possibly damaging |
Het |
| Col9a2 |
T |
A |
4: 121,045,001 (GRCm38) |
C173* |
probably null |
Het |
| Ctr9 |
T |
A |
7: 111,046,910 (GRCm38) |
M703K |
possibly damaging |
Het |
| Cyp2a12 |
A |
G |
7: 27,029,632 (GRCm38) |
Y83C |
probably damaging |
Het |
| Eef1akmt3 |
A |
C |
10: 127,032,974 (GRCm38) |
D210E |
probably benign |
Het |
| Erbin |
A |
G |
13: 103,834,958 (GRCm38) |
F717L |
probably benign |
Het |
| Gtf3a |
A |
G |
5: 146,955,462 (GRCm38) |
N341S |
probably benign |
Het |
| Hltf |
T |
C |
3: 20,059,081 (GRCm38) |
V6A |
probably damaging |
Het |
| Itga6 |
T |
A |
2: 71,820,014 (GRCm38) |
Y135N |
probably damaging |
Het |
| Krt73 |
T |
C |
15: 101,800,910 (GRCm38) |
Q154R |
possibly damaging |
Het |
| Lce1a1 |
C |
T |
3: 92,646,741 (GRCm38) |
C142Y |
unknown |
Het |
| Lcorl |
A |
T |
5: 45,747,151 (GRCm38) |
I112N |
probably damaging |
Het |
| Ltbp1 |
C |
T |
17: 75,291,317 (GRCm38) |
H916Y |
probably damaging |
Het |
| Lypla2 |
T |
C |
4: 135,970,604 (GRCm38) |
|
probably null |
Het |
| Man1c1 |
G |
C |
4: 134,703,438 (GRCm38) |
P11R |
probably damaging |
Het |
| Mmp1a |
T |
A |
9: 7,475,356 (GRCm38) |
D375E |
probably damaging |
Het |
| Nlrp14 |
T |
G |
7: 107,182,502 (GRCm38) |
L302R |
probably damaging |
Het |
| Npy2r |
T |
G |
3: 82,540,401 (GRCm38) |
T243P |
possibly damaging |
Het |
| Olfr633 |
T |
C |
7: 103,946,785 (GRCm38) |
V73A |
probably damaging |
Het |
| Olfr749 |
A |
T |
14: 50,736,419 (GRCm38) |
S248T |
probably benign |
Het |
| Paqr9 |
A |
T |
9: 95,560,878 (GRCm38) |
H307L |
probably damaging |
Het |
| Phc3 |
T |
C |
3: 30,950,929 (GRCm38) |
T172A |
probably damaging |
Het |
| Pigs |
A |
G |
11: 78,328,812 (GRCm38) |
T39A |
probably damaging |
Het |
| Pik3c2g |
C |
T |
6: 139,855,286 (GRCm38) |
Q386* |
probably null |
Het |
| Pira2 |
T |
C |
7: 3,844,418 (GRCm38) |
S91G |
probably benign |
Het |
| Plxna2 |
T |
A |
1: 194,800,617 (GRCm38) |
N1539K |
probably damaging |
Het |
| Poc5 |
C |
T |
13: 96,410,749 (GRCm38) |
H507Y |
probably damaging |
Het |
| Pou2f1 |
A |
T |
1: 165,880,356 (GRCm38) |
|
probably benign |
Het |
| Pthlh |
T |
G |
6: 147,257,196 (GRCm38) |
K89Q |
probably damaging |
Het |
| Rims4 |
A |
T |
2: 163,864,126 (GRCm38) |
|
probably null |
Het |
| Rnf138 |
A |
G |
18: 21,026,086 (GRCm38) |
N188D |
probably damaging |
Het |
| Rreb1 |
A |
G |
13: 37,930,846 (GRCm38) |
D727G |
probably benign |
Het |
| Sc5d |
T |
G |
9: 42,255,386 (GRCm38) |
K286Q |
probably benign |
Het |
| Slc10a5 |
C |
T |
3: 10,335,282 (GRCm38) |
G106D |
possibly damaging |
Het |
| Smg6 |
A |
T |
11: 75,038,646 (GRCm38) |
Q967L |
probably damaging |
Het |
| Spty2d1 |
C |
T |
7: 46,994,613 (GRCm38) |
R636H |
probably damaging |
Het |
| Srms |
A |
T |
2: 181,208,780 (GRCm38) |
Y195* |
probably null |
Het |
| Susd4 |
A |
G |
1: 182,892,194 (GRCm38) |
D458G |
probably benign |
Het |
| Tecta |
T |
C |
9: 42,358,924 (GRCm38) |
R1363G |
probably damaging |
Het |
| Thbs1 |
G |
A |
2: 118,122,579 (GRCm38) |
G890D |
probably damaging |
Het |
| Tpp2 |
T |
C |
1: 43,957,446 (GRCm38) |
V317A |
probably benign |
Het |
| Ttpa |
T |
C |
4: 20,021,357 (GRCm38) |
V175A |
probably damaging |
Het |
| Vps13b |
G |
T |
15: 35,887,197 (GRCm38) |
D3251Y |
probably benign |
Het |
| Vps54 |
A |
G |
11: 21,298,810 (GRCm38) |
D441G |
probably benign |
Het |
| Zfp738 |
A |
T |
13: 67,670,977 (GRCm38) |
Y298* |
probably null |
Het |
| Zxdc |
A |
G |
6: 90,382,479 (GRCm38) |
K698E |
possibly damaging |
Het |
|
| Other mutations in Zfp804a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00466:Zfp804a
|
APN |
2 |
82,053,875 (GRCm38) |
missense |
probably benign |
0.30 |
|
IGL02011:Zfp804a
|
APN |
2 |
82,256,691 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02218:Zfp804a
|
APN |
2 |
82,259,202 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02645:Zfp804a
|
APN |
2 |
82,053,876 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
PIT4431001:Zfp804a
|
UTSW |
2 |
82,259,192 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0027:Zfp804a
|
UTSW |
2 |
82,257,200 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0167:Zfp804a
|
UTSW |
2 |
82,256,516 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0437:Zfp804a
|
UTSW |
2 |
82,053,791 (GRCm38) |
start codon destroyed |
probably null |
0.08 |
|
R0521:Zfp804a
|
UTSW |
2 |
82,259,417 (GRCm38) |
nonsense |
probably null |
|
|
R0546:Zfp804a
|
UTSW |
2 |
82,258,920 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R0609:Zfp804a
|
UTSW |
2 |
82,257,588 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0694:Zfp804a
|
UTSW |
2 |
82,053,804 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0837:Zfp804a
|
UTSW |
2 |
82,259,162 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0947:Zfp804a
|
UTSW |
2 |
82,258,718 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R1103:Zfp804a
|
UTSW |
2 |
82,257,500 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1168:Zfp804a
|
UTSW |
2 |
82,256,697 (GRCm38) |
missense |
probably benign |
0.43 |
|
R1365:Zfp804a
|
UTSW |
2 |
82,257,246 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1377:Zfp804a
|
UTSW |
2 |
82,258,497 (GRCm38) |
missense |
probably benign |
0.39 |
|
R1501:Zfp804a
|
UTSW |
2 |
82,235,799 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1526:Zfp804a
|
UTSW |
2 |
82,258,188 (GRCm38) |
missense |
probably benign |
|
|
R1585:Zfp804a
|
UTSW |
2 |
82,053,751 (GRCm38) |
start gained |
probably benign |
|
|
R1674:Zfp804a
|
UTSW |
2 |
82,258,824 (GRCm38) |
missense |
probably benign |
0.35 |
|
R2058:Zfp804a
|
UTSW |
2 |
82,257,366 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2146:Zfp804a
|
UTSW |
2 |
82,258,664 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2149:Zfp804a
|
UTSW |
2 |
82,258,664 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2307:Zfp804a
|
UTSW |
2 |
82,256,857 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2398:Zfp804a
|
UTSW |
2 |
82,258,669 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R2496:Zfp804a
|
UTSW |
2 |
82,235,844 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2504:Zfp804a
|
UTSW |
2 |
82,257,519 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2919:Zfp804a
|
UTSW |
2 |
82,235,816 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2943:Zfp804a
|
UTSW |
2 |
82,235,879 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3116:Zfp804a
|
UTSW |
2 |
82,259,417 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4170:Zfp804a
|
UTSW |
2 |
82,253,488 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4393:Zfp804a
|
UTSW |
2 |
82,256,921 (GRCm38) |
missense |
probably benign |
0.43 |
|
R4701:Zfp804a
|
UTSW |
2 |
82,256,582 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4771:Zfp804a
|
UTSW |
2 |
82,257,942 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4793:Zfp804a
|
UTSW |
2 |
82,235,842 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5523:Zfp804a
|
UTSW |
2 |
82,258,995 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5526:Zfp804a
|
UTSW |
2 |
82,258,590 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5961:Zfp804a
|
UTSW |
2 |
82,258,002 (GRCm38) |
missense |
probably benign |
|
|
R6181:Zfp804a
|
UTSW |
2 |
82,257,142 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6209:Zfp804a
|
UTSW |
2 |
82,258,118 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6325:Zfp804a
|
UTSW |
2 |
82,257,038 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R7147:Zfp804a
|
UTSW |
2 |
82,258,187 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7229:Zfp804a
|
UTSW |
2 |
82,258,625 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7666:Zfp804a
|
UTSW |
2 |
82,259,060 (GRCm38) |
nonsense |
probably null |
|
|
R7910:Zfp804a
|
UTSW |
2 |
82,256,573 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8256:Zfp804a
|
UTSW |
2 |
82,053,849 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8669:Zfp804a
|
UTSW |
2 |
82,257,762 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8738:Zfp804a
|
UTSW |
2 |
82,259,106 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8749:Zfp804a
|
UTSW |
2 |
82,257,575 (GRCm38) |
missense |
probably benign |
0.18 |
|
R8751:Zfp804a
|
UTSW |
2 |
82,235,846 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8828:Zfp804a
|
UTSW |
2 |
82,259,115 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R8834:Zfp804a
|
UTSW |
2 |
82,259,097 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R8924:Zfp804a
|
UTSW |
2 |
82,258,403 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8982:Zfp804a
|
UTSW |
2 |
82,235,828 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9459:Zfp804a
|
UTSW |
2 |
82,259,409 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9570:Zfp804a
|
UTSW |
2 |
82,258,500 (GRCm38) |
missense |
probably benign |
0.22 |
|
X0064:Zfp804a
|
UTSW |
2 |
82,235,823 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Zfp804a
|
UTSW |
2 |
82,258,563 (GRCm38) |
missense |
probably benign |
0.25 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGCCACTGACACCTTCAAG -3'
(R):5'- GCCATTAGACAAAACGTGGAC -3'
Sequencing Primer
(F):5'- GCCACTGACACCTTCAAGTACTATAG -3'
(R):5'- GGGTAATCATTTTTACTATGGCCAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation