Incidental Mutation 'R7147:Zfp804a'
| ID |
553853 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp804a
|
| Ensembl Gene |
ENSMUSG00000070866 |
| Gene Name |
zinc finger protein 804A |
| Synonyms |
C630007C17Rik |
| MMRRC Submission |
045224-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R7147 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
81883566-82090223 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 82088531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 787
(Y787H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047527]
|
| AlphaFold |
A2AKY4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047527
AA Change: Y787H
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000041941
Gene: ENSMUSG00000070866
AA Change: Y787H
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
C |
T |
14: 56,017,182 (GRCm39) |
G303D |
probably damaging |
Het |
| Adgra3 |
C |
T |
5: 50,118,587 (GRCm39) |
G987D |
probably damaging |
Het |
| Akap11 |
A |
G |
14: 78,748,905 (GRCm39) |
S1161P |
|
Het |
| Ampd3 |
G |
A |
7: 110,404,059 (GRCm39) |
E528K |
probably damaging |
Het |
| Arl8b |
G |
A |
6: 108,791,976 (GRCm39) |
R79Q |
probably damaging |
Het |
| Atf4 |
AAGCGGGCTGAGC |
AAGC |
15: 80,141,500 (GRCm39) |
|
probably benign |
Het |
| Cald1 |
A |
T |
6: 34,723,231 (GRCm39) |
Q105L |
|
Het |
| Casd1 |
T |
C |
6: 4,624,187 (GRCm39) |
Y327H |
probably benign |
Het |
| Chodl |
T |
A |
16: 78,743,629 (GRCm39) |
C239S |
probably damaging |
Het |
| D130043K22Rik |
A |
T |
13: 25,066,546 (GRCm39) |
H781L |
probably benign |
Het |
| Dlg1 |
A |
T |
16: 31,610,672 (GRCm39) |
M318L |
probably benign |
Het |
| Dlgap1 |
T |
C |
17: 70,969,753 (GRCm39) |
S520P |
probably benign |
Het |
| Dmxl2 |
T |
C |
9: 54,324,013 (GRCm39) |
I950V |
probably benign |
Het |
| Dnah17 |
T |
A |
11: 117,985,755 (GRCm39) |
T1441S |
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,849,654 (GRCm39) |
N1638K |
unknown |
Het |
| Ect2 |
A |
T |
3: 27,204,239 (GRCm39) |
D23E |
probably benign |
Het |
| Ephx1 |
T |
A |
1: 180,829,384 (GRCm39) |
T55S |
probably damaging |
Het |
| F11 |
T |
C |
8: 45,703,183 (GRCm39) |
Y169C |
probably damaging |
Het |
| Fbxw27 |
A |
G |
9: 109,618,391 (GRCm39) |
|
probably null |
Het |
| Fhl5 |
T |
A |
4: 25,213,777 (GRCm39) |
|
probably null |
Het |
| Gm5145 |
G |
A |
17: 20,791,323 (GRCm39) |
E234K |
probably damaging |
Het |
| Gpr39 |
G |
A |
1: 125,800,238 (GRCm39) |
D330N |
possibly damaging |
Het |
| Greb1 |
C |
T |
12: 16,783,428 (GRCm39) |
R102H |
probably damaging |
Het |
| H4c17 |
A |
G |
13: 21,996,159 (GRCm39) |
D69G |
probably damaging |
Het |
| Ighmbp2 |
T |
C |
19: 3,321,676 (GRCm39) |
K361R |
probably benign |
Het |
| Inpp4b |
A |
G |
8: 82,629,400 (GRCm39) |
D245G |
probably damaging |
Het |
| Ints14 |
T |
C |
9: 64,891,267 (GRCm39) |
V416A |
possibly damaging |
Het |
| Kif21a |
A |
G |
15: 90,865,086 (GRCm39) |
S529P |
probably benign |
Het |
| Limk1 |
A |
G |
5: 134,686,195 (GRCm39) |
M609T |
probably benign |
Het |
| Lrrc75a |
G |
A |
11: 62,496,795 (GRCm39) |
P256S |
probably damaging |
Het |
| Mcc |
T |
C |
18: 44,626,580 (GRCm39) |
R339G |
probably damaging |
Het |
| Mdga1 |
C |
T |
17: 30,065,495 (GRCm39) |
W371* |
probably null |
Het |
| Mei4 |
T |
A |
9: 81,809,649 (GRCm39) |
L244Q |
probably damaging |
Het |
| Mical2 |
C |
T |
7: 111,922,810 (GRCm39) |
P605L |
possibly damaging |
Het |
| Mrgprf |
G |
T |
7: 144,862,128 (GRCm39) |
R230L |
possibly damaging |
Het |
| Nlgn1 |
T |
A |
3: 26,187,509 (GRCm39) |
R125S |
probably benign |
Het |
| Or52h7 |
A |
G |
7: 104,213,273 (GRCm39) |
|
probably benign |
Het |
| Papola |
A |
T |
12: 105,774,897 (GRCm39) |
|
probably benign |
Het |
| Pold2 |
T |
C |
11: 5,823,095 (GRCm39) |
D360G |
probably benign |
Het |
| Prr12 |
T |
C |
7: 44,683,274 (GRCm39) |
R1797G |
unknown |
Het |
| Psmg2 |
C |
T |
18: 67,786,338 (GRCm39) |
P233S |
probably benign |
Het |
| Ptprh |
A |
G |
7: 4,553,781 (GRCm39) |
W857R |
probably damaging |
Het |
| Raet1e |
A |
T |
10: 22,057,179 (GRCm39) |
M168L |
probably benign |
Het |
| Rhbdl2 |
A |
T |
4: 123,703,908 (GRCm39) |
Y61F |
probably damaging |
Het |
| Sacm1l |
A |
G |
9: 123,398,016 (GRCm39) |
N236S |
probably damaging |
Het |
| Sbf2 |
A |
T |
7: 110,046,268 (GRCm39) |
S310T |
probably benign |
Het |
| Sdr42e2 |
A |
T |
7: 120,412,238 (GRCm39) |
R33S |
probably damaging |
Het |
| Sh3d19 |
T |
A |
3: 86,011,584 (GRCm39) |
I390N |
possibly damaging |
Het |
| Slco3a1 |
A |
G |
7: 74,154,042 (GRCm39) |
Y177H |
probably damaging |
Het |
| Smo |
G |
A |
6: 29,758,448 (GRCm39) |
G531D |
possibly damaging |
Het |
| Snx25 |
A |
C |
8: 46,558,233 (GRCm39) |
V258G |
probably damaging |
Het |
| Spata31d1b |
T |
A |
13: 59,866,028 (GRCm39) |
S1059T |
probably benign |
Het |
| Srgap2 |
C |
T |
1: 131,238,332 (GRCm39) |
C274Y |
|
Het |
| Srrm1 |
A |
G |
4: 135,074,137 (GRCm39) |
I48T |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 5,199,340 (GRCm39) |
V3719E |
probably damaging |
Het |
| Tcerg1 |
T |
A |
18: 42,683,128 (GRCm39) |
M616K |
probably benign |
Het |
| Tgtp2 |
G |
C |
11: 48,950,135 (GRCm39) |
R146G |
probably damaging |
Het |
| Tie1 |
A |
T |
4: 118,341,610 (GRCm39) |
V234D |
probably damaging |
Het |
| Tom1 |
A |
G |
8: 75,783,895 (GRCm39) |
N293S |
probably damaging |
Het |
| Trim13 |
A |
T |
14: 61,842,080 (GRCm39) |
K32N |
probably damaging |
Het |
| Trim6 |
G |
A |
7: 103,874,777 (GRCm39) |
V5I |
probably benign |
Het |
| Vps11 |
A |
T |
9: 44,266,379 (GRCm39) |
L436* |
probably null |
Het |
| Vps50 |
C |
T |
6: 3,567,750 (GRCm39) |
Q549* |
probably null |
Het |
| Vtcn1 |
T |
A |
3: 100,791,210 (GRCm39) |
F83I |
probably damaging |
Het |
| Zfp131 |
T |
C |
13: 120,228,079 (GRCm39) |
T523A |
probably benign |
Het |
| Zfp758 |
A |
T |
17: 22,594,981 (GRCm39) |
Y489F |
possibly damaging |
Het |
| Zfp9 |
C |
T |
6: 118,441,963 (GRCm39) |
C233Y |
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 |
|
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 |
|
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'- GGGAGCTTGGCTTCTCAAAG -3'
(R):5'- GATGGAGCATCCCTTTGATTTCTG -3'
Sequencing Primer
(F):5'- GCTTCTCAAAGTAATGTGAAAGGCCC -3'
(R):5'- GGATTTATGTCCTCTTTTATGCAGTC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation