Incidental Mutation 'R5526:Zfp804a'
| ID |
431838 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp804a
|
| Ensembl Gene |
ENSMUSG00000070866 |
| Gene Name |
zinc finger protein 804A |
| Synonyms |
C630007C17Rik |
| MMRRC Submission |
043084-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.180)
|
| Stock # |
R5526 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
81883566-82090223 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82088934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 921
(D921G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047527]
|
| AlphaFold |
A2AKY4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047527
AA Change: D921G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000041941
Gene: ENSMUSG00000070866
AA Change: D921G
| 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: 95.2%
- 20x: 90.7%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,331,605 (GRCm39) |
M1315K |
probably benign |
Het |
| Abcc4 |
C |
T |
14: 118,868,449 (GRCm39) |
V168I |
probably benign |
Het |
| Add3 |
T |
A |
19: 53,215,038 (GRCm39) |
L71Q |
probably damaging |
Het |
| Agbl5 |
G |
A |
5: 31,051,247 (GRCm39) |
|
probably null |
Het |
| Angpt1 |
A |
G |
15: 42,375,737 (GRCm39) |
L173P |
probably damaging |
Het |
| Crls1 |
T |
A |
2: 132,703,165 (GRCm39) |
M205K |
possibly damaging |
Het |
| Cspg4b |
T |
C |
13: 113,504,427 (GRCm39) |
V1852A |
probably benign |
Het |
| Dhtkd1 |
A |
T |
2: 5,916,662 (GRCm39) |
N671K |
probably damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,642,920 (GRCm39) |
D246V |
probably damaging |
Het |
| Dolk |
G |
A |
2: 30,175,820 (GRCm39) |
A75V |
probably damaging |
Het |
| Dtna |
T |
A |
18: 23,779,287 (GRCm39) |
V623E |
probably damaging |
Het |
| Elavl3 |
T |
C |
9: 21,947,622 (GRCm39) |
T106A |
probably benign |
Het |
| Ergic1 |
T |
C |
17: 26,843,652 (GRCm39) |
C41R |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,160,187 (GRCm39) |
I3309F |
possibly damaging |
Het |
| Fbn1 |
C |
A |
2: 125,207,559 (GRCm39) |
R978L |
possibly damaging |
Het |
| Fzd6 |
A |
T |
15: 38,894,559 (GRCm39) |
S242C |
possibly damaging |
Het |
| Galntl6 |
T |
A |
8: 58,926,004 (GRCm39) |
H87L |
probably benign |
Het |
| Gatad2a |
T |
C |
8: 70,388,591 (GRCm39) |
E32G |
probably damaging |
Het |
| Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
| Gm11541 |
G |
T |
11: 94,594,944 (GRCm39) |
H41Q |
unknown |
Het |
| Has3 |
A |
G |
8: 107,600,579 (GRCm39) |
T14A |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,279,869 (GRCm39) |
L1377P |
probably damaging |
Het |
| Lcorl |
T |
C |
5: 45,891,069 (GRCm39) |
N428S |
probably benign |
Het |
| Lipo5 |
A |
T |
19: 33,445,284 (GRCm39) |
V95D |
unknown |
Het |
| Lrp1 |
A |
T |
10: 127,391,593 (GRCm39) |
V2942D |
probably benign |
Het |
| Map1a |
T |
C |
2: 121,136,143 (GRCm39) |
S2082P |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,890,723 (GRCm39) |
S852G |
possibly damaging |
Het |
| Mlh3 |
A |
T |
12: 85,316,147 (GRCm39) |
L13* |
probably null |
Het |
| Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
| Nlrp9c |
T |
A |
7: 26,081,791 (GRCm39) |
N645I |
possibly damaging |
Het |
| Or12d17 |
T |
A |
17: 37,778,003 (GRCm39) |
L302Q |
unknown |
Het |
| Or12e7 |
T |
C |
2: 87,288,109 (GRCm39) |
I200T |
probably benign |
Het |
| Or14j7 |
T |
A |
17: 38,235,383 (GRCm39) |
*309K |
probably null |
Het |
| Or7e166 |
C |
A |
9: 19,624,994 (GRCm39) |
Y290* |
probably null |
Het |
| Or8g52 |
A |
T |
9: 39,630,892 (GRCm39) |
Y123F |
possibly damaging |
Het |
| Pex12 |
A |
G |
11: 83,187,090 (GRCm39) |
V286A |
possibly damaging |
Het |
| Phax |
C |
T |
18: 56,717,382 (GRCm39) |
T275I |
probably damaging |
Het |
| Phf21b |
A |
G |
15: 84,676,006 (GRCm39) |
V335A |
probably benign |
Het |
| Psg18 |
A |
T |
7: 18,083,273 (GRCm39) |
L173H |
probably damaging |
Het |
| Rab3ip |
T |
C |
10: 116,754,834 (GRCm39) |
T209A |
possibly damaging |
Het |
| Ralgapb |
T |
C |
2: 158,274,705 (GRCm39) |
V202A |
probably damaging |
Het |
| Rpn2 |
T |
C |
2: 157,165,187 (GRCm39) |
L611P |
probably damaging |
Het |
| Runx2 |
T |
G |
17: 45,035,749 (GRCm39) |
T148P |
probably damaging |
Het |
| Sbpl |
C |
A |
17: 24,173,623 (GRCm39) |
D50Y |
probably damaging |
Het |
| Scn5a |
G |
A |
9: 119,350,237 (GRCm39) |
P879L |
probably damaging |
Het |
| Sfn |
T |
C |
4: 133,328,915 (GRCm39) |
R56G |
probably damaging |
Het |
| Spata31g1 |
T |
C |
4: 42,972,125 (GRCm39) |
V486A |
possibly damaging |
Het |
| Tas2r138 |
C |
T |
6: 40,589,914 (GRCm39) |
A111T |
probably benign |
Het |
| Tasp1 |
A |
T |
2: 139,850,709 (GRCm39) |
S105T |
probably damaging |
Het |
| Tmem225 |
T |
G |
9: 40,062,002 (GRCm39) |
H205Q |
possibly damaging |
Het |
| Tmprss7 |
A |
G |
16: 45,481,267 (GRCm39) |
S640P |
probably damaging |
Het |
| Utp4 |
G |
A |
8: 107,644,265 (GRCm39) |
A535T |
possibly damaging |
Het |
| Vmn1r203 |
A |
T |
13: 22,708,273 (GRCm39) |
D18V |
probably benign |
Het |
| Vmn2r58 |
A |
G |
7: 41,522,069 (GRCm39) |
L9P |
probably benign |
Het |
| Zcchc2 |
T |
A |
1: 105,957,984 (GRCm39) |
C420* |
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 |
|
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 |
|
R5523:Zfp804a
|
UTSW |
2 |
82,089,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGAGTCAACCAGATGAGTTAGC -3'
(R):5'- AGCCACTCTGTTGATGCCTC -3'
Sequencing Primer
(F):5'- CCAGATGAGTTAGCAAAGGACTGC -3'
(R):5'- ACTCTGTTGATGCCTCATTCG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation