Incidental Mutation 'R1103:Zfp804a'
ID |
98239 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp804a
|
Ensembl Gene |
ENSMUSG00000070866 |
Gene Name |
zinc finger protein 804A |
Synonyms |
C630007C17Rik |
MMRRC Submission |
039176-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.198)
|
Stock # |
R1103 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
81883566-82090223 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 82087844 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 558
(T558A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041941
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047527]
|
AlphaFold |
A2AKY4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047527
AA Change: T558A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000041941 Gene: ENSMUSG00000070866 AA Change: T558A
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
|
Meta Mutation Damage Score |
0.1630 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.7%
|
Validation Efficiency |
97% (60/62) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700056E22Rik |
C |
T |
1: 183,765,702 (GRCm39) |
S119N |
probably benign |
Het |
4930524J08Rik |
G |
A |
5: 100,126,980 (GRCm39) |
|
probably benign |
Het |
Adam3 |
T |
A |
8: 25,204,287 (GRCm39) |
|
probably benign |
Het |
Adpgk |
A |
G |
9: 59,221,079 (GRCm39) |
H295R |
probably damaging |
Het |
Aftph |
A |
T |
11: 20,676,547 (GRCm39) |
M199K |
probably benign |
Het |
Ap2a1 |
C |
A |
7: 44,553,593 (GRCm39) |
|
probably benign |
Het |
Atpaf2 |
T |
C |
11: 60,294,776 (GRCm39) |
I216V |
probably benign |
Het |
Bag4 |
A |
T |
8: 26,257,891 (GRCm39) |
|
probably benign |
Het |
Bltp1 |
A |
T |
3: 37,050,672 (GRCm39) |
M3003L |
probably benign |
Het |
Bud23 |
T |
C |
5: 135,089,993 (GRCm39) |
S67G |
probably damaging |
Het |
Cfap157 |
A |
G |
2: 32,671,410 (GRCm39) |
F132S |
probably damaging |
Het |
Cngb3 |
G |
A |
4: 19,309,658 (GRCm39) |
|
probably null |
Het |
Cntnap5a |
A |
G |
1: 116,508,399 (GRCm39) |
I1304V |
possibly damaging |
Het |
Cp |
A |
G |
3: 20,036,149 (GRCm39) |
K764E |
possibly damaging |
Het |
Crebbp |
A |
G |
16: 3,901,925 (GRCm39) |
V2438A |
probably damaging |
Het |
Csmd3 |
A |
T |
15: 47,811,402 (GRCm39) |
W1230R |
probably damaging |
Het |
Cul1 |
G |
A |
6: 47,494,111 (GRCm39) |
V475I |
probably benign |
Het |
Dnttip2 |
T |
C |
3: 122,070,071 (GRCm39) |
S429P |
probably benign |
Het |
Dtwd1 |
T |
C |
2: 125,996,643 (GRCm39) |
S43P |
probably damaging |
Het |
Ect2l |
T |
C |
10: 18,016,274 (GRCm39) |
T705A |
probably damaging |
Het |
Erbin |
G |
T |
13: 104,022,710 (GRCm39) |
T43N |
probably benign |
Het |
Fcgbpl1 |
G |
T |
7: 27,853,945 (GRCm39) |
L1636F |
probably damaging |
Het |
Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
Gpr150 |
G |
T |
13: 76,203,712 (GRCm39) |
P411Q |
probably damaging |
Het |
Grap |
C |
A |
11: 61,562,544 (GRCm39) |
Q172K |
probably benign |
Het |
Ido2 |
G |
A |
8: 25,066,239 (GRCm39) |
T9M |
probably benign |
Het |
Klkb1 |
C |
A |
8: 45,729,183 (GRCm39) |
C347F |
probably damaging |
Het |
Klra17 |
G |
A |
6: 129,845,806 (GRCm39) |
|
probably benign |
Het |
Lama1 |
T |
C |
17: 68,097,942 (GRCm39) |
L1774P |
probably damaging |
Het |
Lhpp |
A |
T |
7: 132,212,484 (GRCm39) |
D17V |
probably damaging |
Het |
Lrfn4 |
T |
C |
19: 4,663,299 (GRCm39) |
T412A |
probably benign |
Het |
Lrrc7 |
C |
T |
3: 157,854,343 (GRCm39) |
|
probably benign |
Het |
Ltbp3 |
A |
T |
19: 5,797,439 (GRCm39) |
|
probably null |
Het |
Ltbp3 |
G |
C |
19: 5,797,440 (GRCm39) |
|
probably null |
Het |
Luzp1 |
T |
A |
4: 136,268,041 (GRCm39) |
L88Q |
possibly damaging |
Het |
Magi2 |
T |
C |
5: 20,816,101 (GRCm39) |
I747T |
probably damaging |
Het |
Map1b |
A |
T |
13: 99,563,974 (GRCm39) |
|
probably benign |
Het |
Map3k4 |
A |
T |
17: 12,455,950 (GRCm39) |
|
probably null |
Het |
Map3k5 |
C |
A |
10: 19,899,422 (GRCm39) |
D226E |
probably benign |
Het |
Mtf1 |
T |
A |
4: 124,732,261 (GRCm39) |
S440T |
probably benign |
Het |
Myo18a |
T |
A |
11: 77,714,156 (GRCm39) |
L389Q |
probably damaging |
Het |
Myom2 |
A |
G |
8: 15,160,827 (GRCm39) |
D900G |
probably benign |
Het |
Nfasc |
T |
C |
1: 132,534,795 (GRCm39) |
|
probably benign |
Het |
Obscn |
A |
T |
11: 58,912,309 (GRCm39) |
S7044R |
probably damaging |
Het |
Or5bw2 |
T |
A |
7: 6,573,111 (GRCm39) |
N40K |
probably damaging |
Het |
Or5e1 |
T |
C |
7: 108,354,090 (GRCm39) |
V9A |
possibly damaging |
Het |
Or6k4 |
T |
C |
1: 173,964,457 (GRCm39) |
V49A |
probably benign |
Het |
Pde4c |
T |
A |
8: 71,201,066 (GRCm39) |
H421Q |
probably damaging |
Het |
Pnmt |
G |
T |
11: 98,278,502 (GRCm39) |
R156L |
probably benign |
Het |
Pramel22 |
A |
C |
4: 143,381,942 (GRCm39) |
C251W |
probably damaging |
Het |
Rnf138 |
A |
G |
18: 21,159,159 (GRCm39) |
E193G |
probably damaging |
Het |
Sesn1 |
G |
T |
10: 41,778,589 (GRCm39) |
R346L |
possibly damaging |
Het |
Setd4 |
G |
T |
16: 93,382,082 (GRCm39) |
H390Q |
probably benign |
Het |
Supt6 |
T |
C |
11: 78,116,299 (GRCm39) |
E688G |
possibly damaging |
Het |
Syne2 |
G |
A |
12: 76,156,609 (GRCm39) |
D6802N |
probably benign |
Het |
Syt16 |
A |
G |
12: 74,313,672 (GRCm39) |
K533E |
probably damaging |
Het |
Tg |
A |
T |
15: 66,591,504 (GRCm39) |
Q26H |
probably benign |
Het |
Trim33 |
G |
T |
3: 103,218,201 (GRCm39) |
W250L |
probably damaging |
Het |
Trip4 |
A |
G |
9: 65,788,188 (GRCm39) |
C86R |
probably benign |
Het |
Upf2 |
T |
A |
2: 6,030,986 (GRCm39) |
C809S |
unknown |
Het |
Vrk2 |
A |
G |
11: 26,499,325 (GRCm39) |
F76L |
probably damaging |
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 |
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 |
R3116:Zfp804a
|
UTSW |
2 |
82,089,761 (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'- CACATGCTGACTGCAAAGATGTTCC -3'
(R):5'- AGAACTGGCTCCCGTGGATTCTTC -3'
Sequencing Primer
(F):5'- CTGCAAAGATGTTCCAATTGCAAG -3'
(R):5'- CCTGGCCTCATCAGTGC -3'
|
Posted On |
2014-01-05 |