Incidental Mutation 'R5523:Zfp804a'
| ID |
431647 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp804a
|
| Ensembl Gene |
ENSMUSG00000070866 |
| Gene Name |
zinc finger protein 804A |
| Synonyms |
C630007C17Rik |
| MMRRC Submission |
043265-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.180)
|
| Stock # |
R5523 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
81883566-82090223 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 82089339 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1056
(V1056A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047527]
|
| AlphaFold |
A2AKY4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047527
AA Change: V1056A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041941
Gene: ENSMUSG00000070866
AA Change: V1056A
| 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: 98.3%
- 3x: 97.3%
- 10x: 95.4%
- 20x: 91.4%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadm |
G |
A |
3: 153,644,273 (GRCm39) |
T70M |
probably benign |
Het |
| Adamtsl3 |
G |
A |
7: 82,223,650 (GRCm39) |
A218T |
possibly damaging |
Het |
| Ahnak2 |
T |
C |
12: 112,741,642 (GRCm39) |
D810G |
probably damaging |
Het |
| Ak7 |
T |
A |
12: 105,707,341 (GRCm39) |
L315* |
probably null |
Het |
| Apoa5 |
T |
C |
9: 46,181,887 (GRCm39) |
F321S |
possibly damaging |
Het |
| Baiap2l1 |
G |
C |
5: 144,212,768 (GRCm39) |
P416A |
probably damaging |
Het |
| Bco1 |
A |
G |
8: 117,835,432 (GRCm39) |
I128V |
possibly damaging |
Het |
| Bpifb2 |
T |
C |
2: 153,717,905 (GRCm39) |
|
probably benign |
Het |
| Cdt1 |
G |
A |
8: 123,294,832 (GRCm39) |
R13H |
possibly damaging |
Het |
| Cenpj |
A |
G |
14: 56,789,880 (GRCm39) |
V723A |
probably benign |
Het |
| Chl1 |
T |
A |
6: 103,685,675 (GRCm39) |
W849R |
probably damaging |
Het |
| Cpne9 |
A |
G |
6: 113,267,192 (GRCm39) |
D169G |
probably damaging |
Het |
| Cyp2d22 |
A |
G |
15: 82,256,772 (GRCm39) |
V334A |
probably damaging |
Het |
| Cyp4f39 |
C |
A |
17: 32,689,807 (GRCm39) |
N84K |
probably benign |
Het |
| Cyp4f40 |
T |
A |
17: 32,888,796 (GRCm39) |
F192I |
probably damaging |
Het |
| Disp3 |
T |
C |
4: 148,342,554 (GRCm39) |
D632G |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Echs1 |
G |
T |
7: 139,692,426 (GRCm39) |
T107K |
probably benign |
Het |
| Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
| Ergic1 |
G |
A |
17: 26,843,580 (GRCm39) |
V17I |
probably damaging |
Het |
| Fank1 |
G |
T |
7: 133,478,569 (GRCm39) |
C210F |
probably damaging |
Het |
| Fbxo15 |
T |
G |
18: 84,978,194 (GRCm39) |
M136R |
probably damaging |
Het |
| Ggcx |
C |
A |
6: 72,401,017 (GRCm39) |
P240H |
probably damaging |
Het |
| Gpr179 |
T |
C |
11: 97,227,608 (GRCm39) |
R1516G |
probably benign |
Het |
| Gprin3 |
G |
A |
6: 59,330,931 (GRCm39) |
Q459* |
probably null |
Het |
| Hadha |
C |
A |
5: 30,350,252 (GRCm39) |
V99F |
possibly damaging |
Het |
| Hirip3 |
A |
G |
7: 126,463,034 (GRCm39) |
D330G |
possibly damaging |
Het |
| Irx2 |
T |
C |
13: 72,779,714 (GRCm39) |
W333R |
probably damaging |
Het |
| Kansl1l |
T |
C |
1: 66,841,271 (GRCm39) |
T10A |
probably benign |
Het |
| Kcnd2 |
T |
C |
6: 21,723,211 (GRCm39) |
I467T |
probably benign |
Het |
| Klc3 |
A |
T |
7: 19,130,932 (GRCm39) |
I215N |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,504,337 (GRCm39) |
V3657A |
probably benign |
Het |
| Lin28b |
A |
T |
10: 45,345,164 (GRCm39) |
L54* |
probably null |
Het |
| Mgll |
T |
C |
6: 88,702,743 (GRCm39) |
V14A |
probably benign |
Het |
| Mrc2 |
A |
G |
11: 105,234,408 (GRCm39) |
N976S |
probably benign |
Het |
| Myh8 |
C |
A |
11: 67,196,788 (GRCm39) |
A1807E |
possibly damaging |
Het |
| Nalcn |
G |
A |
14: 123,647,155 (GRCm39) |
P573S |
probably damaging |
Het |
| Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
| Neb |
T |
C |
2: 52,168,827 (GRCm39) |
S1903G |
probably benign |
Het |
| Nfe2 |
T |
A |
15: 103,157,556 (GRCm39) |
D145V |
probably damaging |
Het |
| Or52a20 |
T |
A |
7: 103,366,687 (GRCm39) |
Y295* |
probably null |
Het |
| Padi1 |
A |
T |
4: 140,542,164 (GRCm39) |
V586D |
probably damaging |
Het |
| Pcdh12 |
T |
C |
18: 38,416,192 (GRCm39) |
D311G |
probably damaging |
Het |
| Pcdha11 |
A |
T |
18: 37,145,439 (GRCm39) |
H510L |
probably damaging |
Het |
| Plcb1 |
C |
A |
2: 135,102,486 (GRCm39) |
P221H |
probably benign |
Het |
| Plekhg2 |
A |
T |
7: 28,069,856 (GRCm39) |
V58E |
probably damaging |
Het |
| Pparg |
A |
C |
6: 115,467,032 (GRCm39) |
Q435P |
probably damaging |
Het |
| Ppp1r36 |
A |
G |
12: 76,484,892 (GRCm39) |
T282A |
possibly damaging |
Het |
| Prcd |
T |
C |
11: 116,559,110 (GRCm39) |
|
probably benign |
Het |
| Pygo1 |
A |
T |
9: 72,852,266 (GRCm39) |
H151L |
possibly damaging |
Het |
| Rnmt |
A |
G |
18: 68,446,773 (GRCm39) |
Y266C |
probably benign |
Het |
| Rxrb |
T |
C |
17: 34,255,411 (GRCm39) |
V246A |
probably damaging |
Het |
| Sart1 |
A |
G |
19: 5,433,704 (GRCm39) |
S378P |
probably damaging |
Het |
| Sema4d |
T |
C |
13: 51,865,390 (GRCm39) |
N318S |
possibly damaging |
Het |
| Sis |
C |
T |
3: 72,798,754 (GRCm39) |
V1765I |
probably benign |
Het |
| Slc17a6 |
A |
T |
7: 51,276,598 (GRCm39) |
K116* |
probably null |
Het |
| Smc6 |
T |
A |
12: 11,341,540 (GRCm39) |
H519Q |
probably benign |
Het |
| Sowahc |
T |
A |
10: 59,058,785 (GRCm39) |
M307K |
probably benign |
Het |
| Sptbn1 |
A |
G |
11: 30,087,560 (GRCm39) |
Y960H |
probably damaging |
Het |
| Tmem270 |
A |
C |
5: 134,931,636 (GRCm39) |
V102G |
probably benign |
Het |
| Tmprss11d |
A |
G |
5: 86,486,729 (GRCm39) |
F54L |
probably benign |
Het |
| Top1 |
T |
A |
2: 160,544,695 (GRCm39) |
Y270* |
probably null |
Het |
| Trpm2 |
A |
G |
10: 77,771,795 (GRCm39) |
F615L |
probably benign |
Het |
| Ttf2 |
A |
G |
3: 100,866,558 (GRCm39) |
S525P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,777,241 (GRCm39) |
M1387K |
possibly damaging |
Het |
| Upk3bl |
A |
T |
5: 136,088,954 (GRCm39) |
R156W |
probably damaging |
Het |
| Usp34 |
G |
T |
11: 23,299,198 (GRCm39) |
R290L |
probably benign |
Het |
| Vwf |
T |
C |
6: 125,620,005 (GRCm39) |
V1561A |
|
Het |
| Zan |
A |
G |
5: 137,420,155 (GRCm39) |
I2834T |
unknown |
Het |
| Zfp105 |
A |
G |
9: 122,755,454 (GRCm39) |
Y90C |
probably benign |
Het |
| Zfp956 |
A |
T |
6: 47,930,455 (GRCm39) |
|
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 |
|
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 |
|
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'- TTCAAGGAAGCACACGTCAGC -3'
(R):5'- AGATGTTCTGGCAAGAGCAG -3'
Sequencing Primer
(F):5'- CGGCCATGCTTTTGTTACAACAG -3'
(R):5'- AAGCACTTTGAAGGTTCCTGCAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation