Incidental Mutation 'R0837:Zfp804a'
| ID |
77976 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp804a
|
| Ensembl Gene |
ENSMUSG00000070866 |
| Gene Name |
zinc finger protein 804A |
| Synonyms |
|
| MMRRC Submission |
039016-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.180)
|
| Stock # |
R0837 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
82053222-82259879 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 82259162 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 1112
(T1112P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047527]
|
| AlphaFold |
A2AKY4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047527
AA Change: T1112P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041941
Gene: ENSMUSG00000070866
AA Change: T1112P
| 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 |
0.1055 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
| Validation Efficiency |
96% (44/46) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563I02Rik |
T |
C |
14: 60,095,926 (GRCm38) |
|
probably benign |
Het |
| 4930579C12Rik |
A |
G |
9: 89,168,207 (GRCm38) |
|
noncoding transcript |
Het |
| Adam34 |
T |
A |
8: 43,651,500 (GRCm38) |
K369N |
probably benign |
Het |
| Ap1g1 |
T |
C |
8: 109,851,065 (GRCm38) |
W481R |
probably damaging |
Het |
| Bicdl1 |
G |
A |
5: 115,731,292 (GRCm38) |
P26S |
probably benign |
Het |
| Cacna1c |
A |
T |
6: 118,630,270 (GRCm38) |
C1224* |
probably null |
Het |
| Cpsf2 |
C |
T |
12: 101,997,242 (GRCm38) |
|
probably benign |
Het |
| Cyp11b2 |
G |
A |
15: 74,853,641 (GRCm38) |
R210W |
probably damaging |
Het |
| Dock7 |
C |
T |
4: 98,989,258 (GRCm38) |
V1048I |
probably benign |
Het |
| Dync2h1 |
C |
A |
9: 7,077,979 (GRCm38) |
A2908S |
probably benign |
Het |
| Elane |
A |
G |
10: 79,887,108 (GRCm38) |
D116G |
probably damaging |
Het |
| Epb41l2 |
C |
T |
10: 25,507,816 (GRCm38) |
R153C |
probably damaging |
Het |
| Gucy2c |
G |
A |
6: 136,722,420 (GRCm38) |
P617L |
probably damaging |
Het |
| H2ac21 |
G |
A |
3: 96,220,123 (GRCm38) |
A70T |
probably damaging |
Het |
| Kcnq4 |
T |
A |
4: 120,746,861 (GRCm38) |
I106L |
probably benign |
Het |
| Man2b1 |
A |
G |
8: 85,096,829 (GRCm38) |
N931D |
possibly damaging |
Het |
| Mthfs |
A |
G |
9: 89,215,390 (GRCm38) |
E100G |
probably damaging |
Het |
| Mto1 |
A |
T |
9: 78,473,790 (GRCm38) |
I639F |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,487,251 (GRCm38) |
E177G |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,230,743 (GRCm38) |
M282L |
probably benign |
Het |
| Or10aa1 |
A |
G |
1: 174,042,487 (GRCm38) |
D179G |
probably damaging |
Het |
| Pik3c2g |
G |
A |
6: 139,957,699 (GRCm38) |
|
probably benign |
Het |
| Prl7d1 |
T |
A |
13: 27,714,338 (GRCm38) |
M64L |
probably benign |
Het |
| Prnp |
A |
T |
2: 131,936,524 (GRCm38) |
N32I |
probably damaging |
Het |
| Ptpn11 |
C |
T |
5: 121,149,111 (GRCm38) |
V406I |
probably benign |
Het |
| Rab40c |
G |
A |
17: 25,884,693 (GRCm38) |
T151I |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,234,271 (GRCm38) |
|
probably null |
Het |
| Rnf145 |
T |
C |
11: 44,524,988 (GRCm38) |
V10A |
probably benign |
Het |
| Rtn4rl2 |
T |
C |
2: 84,880,692 (GRCm38) |
N70S |
probably damaging |
Het |
| Scaper |
A |
T |
9: 55,859,042 (GRCm38) |
C483* |
probably null |
Het |
| Sema4a |
T |
A |
3: 88,453,098 (GRCm38) |
Q58L |
possibly damaging |
Het |
| Slf1 |
T |
C |
13: 77,100,948 (GRCm38) |
|
probably null |
Het |
| Sycp1 |
G |
T |
3: 102,915,245 (GRCm38) |
N364K |
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,896,275 (GRCm38) |
|
probably benign |
Het |
| Tnfaip2 |
A |
G |
12: 111,450,707 (GRCm38) |
T537A |
probably damaging |
Het |
| Trappc12 |
A |
G |
12: 28,703,597 (GRCm38) |
I573T |
possibly damaging |
Het |
| Ugt2b38 |
G |
A |
5: 87,411,773 (GRCm38) |
T420I |
probably damaging |
Het |
| Ulk1 |
A |
T |
5: 110,789,545 (GRCm38) |
|
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,648,944 (GRCm38) |
C2367Y |
possibly damaging |
Het |
| Usp7 |
C |
A |
16: 8,703,502 (GRCm38) |
G135C |
probably damaging |
Het |
| Vmn2r103 |
A |
G |
17: 19,793,927 (GRCm38) |
Y327C |
probably damaging |
Het |
| Vmn2r28 |
T |
A |
7: 5,488,027 (GRCm38) |
H407L |
probably damaging |
Het |
| Zfr2 |
A |
G |
10: 81,245,408 (GRCm38) |
K431E |
probably damaging |
Het |
| Zfy1 |
A |
T |
Y: 725,850 (GRCm38) |
Y638* |
probably null |
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 |
|
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 |
|
R2171:Zfp804a
|
UTSW |
2 |
82,257,183 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
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'- TCCATTGCCTTTACCAGAGCAAGC -3'
(R):5'- TGATTGGCATCTGAGGAGAAGCAAC -3'
Sequencing Primer
(F):5'- ATCTACCATGTGAGGTCTACCAG -3'
(R):5'- TCTGAGGAGAAGCAACCAAAGC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation