Incidental Mutation 'R3116:Zfp804a'
ID |
264006 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp804a
|
Ensembl Gene |
ENSMUSG00000070866 |
Gene Name |
zinc finger protein 804A |
Synonyms |
C630007C17Rik |
MMRRC Submission |
040589-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.198)
|
Stock # |
R3116 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
81883566-82090223 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 82089761 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 1197
(Q1197K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041941
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047527]
|
AlphaFold |
A2AKY4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047527
AA Change: Q1197K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000041941 Gene: ENSMUSG00000070866 AA Change: Q1197K
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: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
A |
T |
5: 8,946,610 (GRCm39) |
I37F |
possibly damaging |
Het |
Aoc1l3 |
A |
G |
6: 48,964,331 (GRCm39) |
Y113C |
probably damaging |
Het |
Ccdc146 |
T |
C |
5: 21,521,953 (GRCm39) |
N357S |
probably benign |
Het |
Csmd3 |
A |
G |
15: 47,520,995 (GRCm39) |
F2783S |
probably damaging |
Het |
Desi2 |
T |
A |
1: 178,072,008 (GRCm39) |
M104K |
probably damaging |
Het |
Disp1 |
C |
T |
1: 182,870,486 (GRCm39) |
V645I |
probably benign |
Het |
Dock8 |
A |
T |
19: 25,165,858 (GRCm39) |
H1914L |
probably benign |
Het |
Fdft1 |
T |
C |
14: 63,415,147 (GRCm39) |
I28M |
probably benign |
Het |
Ffar3 |
T |
C |
7: 30,555,231 (GRCm39) |
M30V |
probably benign |
Het |
Grm3 |
A |
T |
5: 9,620,752 (GRCm39) |
F164Y |
probably damaging |
Het |
Ints5 |
T |
C |
19: 8,872,136 (GRCm39) |
S32P |
possibly damaging |
Het |
Itgam |
T |
A |
7: 127,715,201 (GRCm39) |
S908R |
probably damaging |
Het |
Kif20b |
C |
T |
19: 34,947,480 (GRCm39) |
P1565L |
probably benign |
Het |
Kntc1 |
A |
G |
5: 123,940,121 (GRCm39) |
E1610G |
probably damaging |
Het |
Krt24 |
T |
A |
11: 99,173,262 (GRCm39) |
T298S |
possibly damaging |
Het |
Magoh |
T |
C |
4: 107,744,409 (GRCm39) |
V126A |
possibly damaging |
Het |
Marchf6 |
G |
A |
15: 31,486,265 (GRCm39) |
S362F |
probably benign |
Het |
Meak7 |
G |
A |
8: 120,495,056 (GRCm39) |
A234V |
probably benign |
Het |
Mier3 |
T |
A |
13: 111,843,182 (GRCm39) |
I178N |
probably damaging |
Het |
Moxd1 |
G |
T |
10: 24,177,429 (GRCm39) |
E582* |
probably null |
Het |
Ncor2 |
A |
T |
5: 125,101,230 (GRCm39) |
L2195Q |
probably damaging |
Het |
Neil1 |
A |
T |
9: 57,053,947 (GRCm39) |
D124E |
probably benign |
Het |
Nhsl1 |
A |
T |
10: 18,400,916 (GRCm39) |
Q714L |
probably damaging |
Het |
Nipbl |
T |
A |
15: 8,373,076 (GRCm39) |
M1057L |
probably benign |
Het |
Npas3 |
G |
A |
12: 54,114,508 (GRCm39) |
|
probably null |
Het |
Oas1h |
C |
T |
5: 120,999,679 (GRCm39) |
Q55* |
probably null |
Het |
Or2a5 |
T |
C |
6: 42,873,784 (GRCm39) |
V133A |
probably benign |
Het |
Or2ag2b |
T |
A |
7: 106,417,571 (GRCm39) |
F94I |
probably damaging |
Het |
Or52h9 |
C |
A |
7: 104,202,295 (GRCm39) |
H56Q |
probably benign |
Het |
Or5p61 |
T |
C |
7: 107,759,029 (GRCm39) |
E17G |
probably benign |
Het |
Or7d9 |
A |
T |
9: 20,197,523 (GRCm39) |
H176L |
probably benign |
Het |
Phactr2 |
C |
A |
10: 13,137,645 (GRCm39) |
E166* |
probably null |
Het |
Prkdc |
C |
T |
16: 15,482,222 (GRCm39) |
L422F |
probably benign |
Het |
Pum1 |
T |
C |
4: 130,499,971 (GRCm39) |
V1051A |
probably damaging |
Het |
Pxdn |
T |
C |
12: 30,052,306 (GRCm39) |
S828P |
possibly damaging |
Het |
Rad21 |
T |
A |
15: 51,828,397 (GRCm39) |
E557V |
probably null |
Het |
Rtn3 |
T |
G |
19: 7,409,355 (GRCm39) |
N888H |
probably damaging |
Het |
Slc12a5 |
T |
A |
2: 164,838,101 (GRCm39) |
|
probably null |
Het |
Slc7a11 |
T |
A |
3: 50,338,588 (GRCm39) |
M274L |
probably benign |
Het |
Tacc2 |
A |
G |
7: 130,360,979 (GRCm39) |
N825S |
probably damaging |
Het |
Tln2 |
T |
A |
9: 67,262,421 (GRCm39) |
D610V |
probably benign |
Het |
Tmed11 |
C |
T |
5: 108,927,705 (GRCm39) |
V110M |
probably damaging |
Het |
Tmem92 |
T |
C |
11: 94,673,254 (GRCm39) |
D3G |
possibly damaging |
Het |
Trp53rkb |
C |
T |
2: 166,636,009 (GRCm39) |
|
probably benign |
Het |
Wdr91 |
A |
G |
6: 34,882,522 (GRCm39) |
L209P |
probably damaging |
Het |
Zfp511 |
T |
A |
7: 139,616,504 (GRCm39) |
D46E |
probably benign |
Het |
|
Other mutations in Zfp804a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00466:Zfp804a
|
APN |
2 |
81,884,219 (GRCm39) |
missense |
probably benign |
0.30 |
IGL02011:Zfp804a
|
APN |
2 |
82,087,035 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02218:Zfp804a
|
APN |
2 |
82,089,546 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02645:Zfp804a
|
APN |
2 |
81,884,220 (GRCm39) |
missense |
possibly damaging |
0.94 |
PIT4431001:Zfp804a
|
UTSW |
2 |
82,089,536 (GRCm39) |
missense |
probably benign |
0.04 |
R0027:Zfp804a
|
UTSW |
2 |
82,087,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R0167:Zfp804a
|
UTSW |
2 |
82,086,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R0437:Zfp804a
|
UTSW |
2 |
81,884,135 (GRCm39) |
start codon destroyed |
probably null |
0.08 |
R0521:Zfp804a
|
UTSW |
2 |
82,089,761 (GRCm39) |
nonsense |
probably null |
|
R0546:Zfp804a
|
UTSW |
2 |
82,089,264 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0609:Zfp804a
|
UTSW |
2 |
82,087,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R0694:Zfp804a
|
UTSW |
2 |
81,884,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R0837:Zfp804a
|
UTSW |
2 |
82,089,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R0947:Zfp804a
|
UTSW |
2 |
82,089,062 (GRCm39) |
missense |
possibly damaging |
0.58 |
R1103:Zfp804a
|
UTSW |
2 |
82,087,844 (GRCm39) |
missense |
probably damaging |
0.99 |
R1168:Zfp804a
|
UTSW |
2 |
82,087,041 (GRCm39) |
missense |
probably benign |
0.43 |
R1365:Zfp804a
|
UTSW |
2 |
82,087,590 (GRCm39) |
missense |
probably benign |
0.00 |
R1377:Zfp804a
|
UTSW |
2 |
82,088,841 (GRCm39) |
missense |
probably benign |
0.39 |
R1501:Zfp804a
|
UTSW |
2 |
82,066,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R1526:Zfp804a
|
UTSW |
2 |
82,088,532 (GRCm39) |
missense |
probably benign |
|
R1585:Zfp804a
|
UTSW |
2 |
81,884,095 (GRCm39) |
start gained |
probably benign |
|
R1674:Zfp804a
|
UTSW |
2 |
82,089,168 (GRCm39) |
missense |
probably benign |
0.35 |
R2058:Zfp804a
|
UTSW |
2 |
82,087,710 (GRCm39) |
missense |
probably benign |
0.00 |
R2146:Zfp804a
|
UTSW |
2 |
82,089,008 (GRCm39) |
missense |
probably benign |
0.02 |
R2149:Zfp804a
|
UTSW |
2 |
82,089,008 (GRCm39) |
missense |
probably benign |
0.02 |
R2171:Zfp804a
|
UTSW |
2 |
82,087,527 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2307:Zfp804a
|
UTSW |
2 |
82,087,201 (GRCm39) |
missense |
probably benign |
0.04 |
R2398:Zfp804a
|
UTSW |
2 |
82,089,013 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2496:Zfp804a
|
UTSW |
2 |
82,066,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R2504:Zfp804a
|
UTSW |
2 |
82,087,863 (GRCm39) |
missense |
probably benign |
0.00 |
R2919:Zfp804a
|
UTSW |
2 |
82,066,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R2943:Zfp804a
|
UTSW |
2 |
82,066,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R4170:Zfp804a
|
UTSW |
2 |
82,083,832 (GRCm39) |
missense |
probably damaging |
1.00 |
R4393:Zfp804a
|
UTSW |
2 |
82,087,265 (GRCm39) |
missense |
probably benign |
0.43 |
R4701:Zfp804a
|
UTSW |
2 |
82,086,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R4771:Zfp804a
|
UTSW |
2 |
82,088,286 (GRCm39) |
missense |
probably benign |
0.01 |
R4793:Zfp804a
|
UTSW |
2 |
82,066,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R5523:Zfp804a
|
UTSW |
2 |
82,089,339 (GRCm39) |
missense |
probably damaging |
1.00 |
R5526:Zfp804a
|
UTSW |
2 |
82,088,934 (GRCm39) |
missense |
probably benign |
0.00 |
R5961:Zfp804a
|
UTSW |
2 |
82,088,346 (GRCm39) |
missense |
probably benign |
|
R6181:Zfp804a
|
UTSW |
2 |
82,087,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R6209:Zfp804a
|
UTSW |
2 |
82,088,462 (GRCm39) |
missense |
probably damaging |
1.00 |
R6325:Zfp804a
|
UTSW |
2 |
82,087,382 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7147:Zfp804a
|
UTSW |
2 |
82,088,531 (GRCm39) |
missense |
probably benign |
0.00 |
R7229:Zfp804a
|
UTSW |
2 |
82,088,969 (GRCm39) |
missense |
probably benign |
0.04 |
R7666:Zfp804a
|
UTSW |
2 |
82,089,404 (GRCm39) |
nonsense |
probably null |
|
R7910:Zfp804a
|
UTSW |
2 |
82,086,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R8256:Zfp804a
|
UTSW |
2 |
81,884,193 (GRCm39) |
missense |
probably damaging |
0.99 |
R8669:Zfp804a
|
UTSW |
2 |
82,088,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R8738:Zfp804a
|
UTSW |
2 |
82,089,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R8749:Zfp804a
|
UTSW |
2 |
82,087,919 (GRCm39) |
missense |
probably benign |
0.18 |
R8751:Zfp804a
|
UTSW |
2 |
82,066,190 (GRCm39) |
missense |
probably damaging |
0.96 |
R8828:Zfp804a
|
UTSW |
2 |
82,089,459 (GRCm39) |
missense |
possibly damaging |
0.74 |
R8834:Zfp804a
|
UTSW |
2 |
82,089,441 (GRCm39) |
missense |
possibly damaging |
0.76 |
R8924:Zfp804a
|
UTSW |
2 |
82,088,747 (GRCm39) |
missense |
probably benign |
0.03 |
R8982:Zfp804a
|
UTSW |
2 |
82,066,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R9459:Zfp804a
|
UTSW |
2 |
82,089,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R9570:Zfp804a
|
UTSW |
2 |
82,088,844 (GRCm39) |
missense |
probably benign |
0.22 |
X0064:Zfp804a
|
UTSW |
2 |
82,066,167 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Zfp804a
|
UTSW |
2 |
82,088,907 (GRCm39) |
missense |
probably benign |
0.25 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGTAGGACCTAGGCTTTGTC -3'
(R):5'- ATAGGGTCATCAGCTTTGTCTAAAC -3'
Sequencing Primer
(F):5'- GACCTAGGCTTTGTCCTGGC -3'
(R):5'- GCTTTGTCTAAACATTAAATAGGTGC -3'
|
Posted On |
2015-02-05 |