Incidental Mutation 'R0837:Zfp804a'
ID |
77976 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp804a
|
Ensembl Gene |
ENSMUSG00000070866 |
Gene Name |
zinc finger protein 804A |
Synonyms |
C630007C17Rik |
MMRRC Submission |
039016-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.198)
|
Stock # |
R0837 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
81883566-82090223 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 82089506 bp (GRCm39)
|
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: 60,333,375 (GRCm39) |
|
probably benign |
Het |
4930579C12Rik |
A |
G |
9: 89,050,260 (GRCm39) |
|
noncoding transcript |
Het |
Adam34 |
T |
A |
8: 44,104,537 (GRCm39) |
K369N |
probably benign |
Het |
Ap1g1 |
T |
C |
8: 110,577,697 (GRCm39) |
W481R |
probably damaging |
Het |
Bicdl1 |
G |
A |
5: 115,869,351 (GRCm39) |
P26S |
probably benign |
Het |
Cacna1c |
A |
T |
6: 118,607,231 (GRCm39) |
C1224* |
probably null |
Het |
Cpsf2 |
C |
T |
12: 101,963,501 (GRCm39) |
|
probably benign |
Het |
Cyp11b2 |
G |
A |
15: 74,725,490 (GRCm39) |
R210W |
probably damaging |
Het |
Dock7 |
C |
T |
4: 98,877,495 (GRCm39) |
V1048I |
probably benign |
Het |
Dync2h1 |
C |
A |
9: 7,077,979 (GRCm39) |
A2908S |
probably benign |
Het |
Elane |
A |
G |
10: 79,722,942 (GRCm39) |
D116G |
probably damaging |
Het |
Epb41l2 |
C |
T |
10: 25,383,714 (GRCm39) |
R153C |
probably damaging |
Het |
Gucy2c |
G |
A |
6: 136,699,418 (GRCm39) |
P617L |
probably damaging |
Het |
H2ac21 |
G |
A |
3: 96,127,439 (GRCm39) |
A70T |
probably damaging |
Het |
Kcnq4 |
T |
A |
4: 120,604,058 (GRCm39) |
I106L |
probably benign |
Het |
Man2b1 |
A |
G |
8: 85,823,458 (GRCm39) |
N931D |
possibly damaging |
Het |
Mthfs |
A |
G |
9: 89,097,443 (GRCm39) |
E100G |
probably damaging |
Het |
Mto1 |
A |
T |
9: 78,381,072 (GRCm39) |
I639F |
probably damaging |
Het |
Myo15a |
A |
G |
11: 60,378,077 (GRCm39) |
E177G |
probably damaging |
Het |
Naip5 |
T |
A |
13: 100,367,251 (GRCm39) |
M282L |
probably benign |
Het |
Or10aa1 |
A |
G |
1: 173,870,053 (GRCm39) |
D179G |
probably damaging |
Het |
Pik3c2g |
G |
A |
6: 139,903,425 (GRCm39) |
|
probably benign |
Het |
Prl7d1 |
T |
A |
13: 27,898,321 (GRCm39) |
M64L |
probably benign |
Het |
Prnp |
A |
T |
2: 131,778,444 (GRCm39) |
N32I |
probably damaging |
Het |
Ptpn11 |
C |
T |
5: 121,287,174 (GRCm39) |
V406I |
probably benign |
Het |
Rab40c |
G |
A |
17: 26,103,667 (GRCm39) |
T151I |
probably damaging |
Het |
Rb1cc1 |
T |
A |
1: 6,304,495 (GRCm39) |
|
probably null |
Het |
Rnf145 |
T |
C |
11: 44,415,815 (GRCm39) |
V10A |
probably benign |
Het |
Rtn4rl2 |
T |
C |
2: 84,711,036 (GRCm39) |
N70S |
probably damaging |
Het |
Scaper |
A |
T |
9: 55,766,326 (GRCm39) |
C483* |
probably null |
Het |
Sema4a |
T |
A |
3: 88,360,405 (GRCm39) |
Q58L |
possibly damaging |
Het |
Slf1 |
T |
C |
13: 77,249,067 (GRCm39) |
|
probably null |
Het |
Sycp1 |
G |
T |
3: 102,822,561 (GRCm39) |
N364K |
probably benign |
Het |
Tenm4 |
T |
C |
7: 96,545,482 (GRCm39) |
|
probably benign |
Het |
Tnfaip2 |
A |
G |
12: 111,417,141 (GRCm39) |
T537A |
probably damaging |
Het |
Trappc12 |
A |
G |
12: 28,753,596 (GRCm39) |
I573T |
possibly damaging |
Het |
Ugt2b38 |
G |
A |
5: 87,559,632 (GRCm39) |
T420I |
probably damaging |
Het |
Ulk1 |
A |
T |
5: 110,937,411 (GRCm39) |
|
probably benign |
Het |
Unc80 |
G |
A |
1: 66,688,103 (GRCm39) |
C2367Y |
possibly damaging |
Het |
Usp7 |
C |
A |
16: 8,521,366 (GRCm39) |
G135C |
probably damaging |
Het |
Vmn2r103 |
A |
G |
17: 20,014,189 (GRCm39) |
Y327C |
probably damaging |
Het |
Vmn2r28 |
T |
A |
7: 5,491,026 (GRCm39) |
H407L |
probably damaging |
Het |
Zfr2 |
A |
G |
10: 81,081,242 (GRCm39) |
K431E |
probably damaging |
Het |
Zfy1 |
A |
T |
Y: 725,850 (GRCm39) |
Y638* |
probably null |
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 |
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 |
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'- TCCATTGCCTTTACCAGAGCAAGC -3'
(R):5'- TGATTGGCATCTGAGGAGAAGCAAC -3'
Sequencing Primer
(F):5'- ATCTACCATGTGAGGTCTACCAG -3'
(R):5'- TCTGAGGAGAAGCAACCAAAGC -3'
|
Posted On |
2013-10-16 |