Incidental Mutation 'R0947:Zfp804a'
| ID |
81650 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp804a
|
| Ensembl Gene |
ENSMUSG00000070866 |
| Gene Name |
zinc finger protein 804A |
| Synonyms |
C630007C17Rik |
| MMRRC Submission |
039086-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R0947 (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 82089062 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 964
(Y964H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047527]
|
| AlphaFold |
A2AKY4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047527
AA Change: Y964H
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000041941
Gene: ENSMUSG00000070866
AA Change: Y964H
| 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: 99.2%
- 3x: 98.2%
- 10x: 95.4%
- 20x: 89.2%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh7a1 |
A |
T |
18: 56,693,910 (GRCm39) |
|
probably null |
Het |
| Atm |
A |
G |
9: 53,415,392 (GRCm39) |
V833A |
probably benign |
Het |
| Atp6v1b1 |
A |
T |
6: 83,730,814 (GRCm39) |
I180F |
probably damaging |
Het |
| Cwf19l2 |
T |
C |
9: 3,421,286 (GRCm39) |
S188P |
probably benign |
Het |
| Gdpd1 |
T |
G |
11: 86,928,707 (GRCm39) |
E240D |
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Htt |
T |
C |
5: 35,056,268 (GRCm39) |
S2681P |
probably damaging |
Het |
| Itgad |
A |
G |
7: 127,774,865 (GRCm39) |
D40G |
probably benign |
Het |
| Krt18 |
A |
G |
15: 101,939,163 (GRCm39) |
Y249C |
possibly damaging |
Het |
| Lrp2 |
G |
T |
2: 69,318,182 (GRCm39) |
P2090T |
probably damaging |
Het |
| Lrrc32 |
A |
G |
7: 98,148,090 (GRCm39) |
D290G |
probably benign |
Het |
| Man1a |
A |
T |
10: 53,809,619 (GRCm39) |
Y486* |
probably null |
Het |
| Mcm9 |
CCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCC |
CCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCC |
10: 53,413,597 (GRCm39) |
|
probably benign |
Het |
| Nin |
A |
T |
12: 70,107,960 (GRCm39) |
C211S |
probably damaging |
Het |
| Npat |
A |
C |
9: 53,481,624 (GRCm39) |
I1111L |
probably benign |
Het |
| Or5p79 |
A |
G |
7: 108,221,879 (GRCm39) |
I287V |
probably benign |
Het |
| Or9i1b |
T |
A |
19: 13,896,535 (GRCm39) |
H50Q |
probably benign |
Het |
| Pbx1 |
A |
G |
1: 168,030,935 (GRCm39) |
S228P |
probably damaging |
Het |
| Pcsk7 |
G |
T |
9: 45,822,470 (GRCm39) |
R230L |
probably damaging |
Het |
| Prom2 |
G |
T |
2: 127,380,183 (GRCm39) |
Q350K |
possibly damaging |
Het |
| Racgap1 |
C |
T |
15: 99,522,195 (GRCm39) |
A458T |
possibly damaging |
Het |
| Rsf1 |
T |
A |
7: 97,318,985 (GRCm39) |
C912S |
probably damaging |
Het |
| Setd2 |
G |
A |
9: 110,377,579 (GRCm39) |
E465K |
possibly damaging |
Het |
| Sgk2 |
T |
A |
2: 162,848,758 (GRCm39) |
D269E |
probably benign |
Het |
| Spsb1 |
T |
C |
4: 149,991,536 (GRCm39) |
T11A |
probably benign |
Het |
| Tln2 |
A |
T |
9: 67,203,095 (GRCm39) |
S509T |
probably benign |
Het |
| Trim5 |
A |
T |
7: 103,914,958 (GRCm39) |
D370E |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,715,574 (GRCm39) |
|
probably benign |
Het |
| Ubr2 |
C |
A |
17: 47,252,038 (GRCm39) |
G1501C |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn2r93 |
A |
T |
17: 18,524,343 (GRCm39) |
R112S |
probably benign |
Het |
| Vps26b |
T |
C |
9: 26,924,077 (GRCm39) |
Y222C |
probably damaging |
Het |
| Wdr64 |
T |
A |
1: 175,603,315 (GRCm39) |
Y198N |
probably benign |
Het |
| Xrn1 |
A |
T |
9: 95,880,316 (GRCm39) |
K752I |
possibly damaging |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfp386 |
T |
C |
12: 116,023,398 (GRCm39) |
I372T |
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 |
|
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'- CCATGTGACTCATCGCAGACTTCC -3'
(R):5'- CGGCTGAATGATGTGCTGGTAGAC -3'
Sequencing Primer
(F):5'- TGATCTTGCTACACCTGTGAATG -3'
(R):5'- AATGATGTGCTGGTAGACCTCAC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation