Incidental Mutation 'R2332:Zfp322a'
| ID |
246480 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp322a
|
| Ensembl Gene |
ENSMUSG00000046351 |
| Gene Name |
zinc finger protein 322A |
| Synonyms |
9630054P07Rik |
| MMRRC Submission |
040322-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R2332 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
23537273-23553378 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23541494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 83
(C83S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118754
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050101]
[ENSMUST00000125328]
[ENSMUST00000145451]
[ENSMUST00000152557]
|
| AlphaFold |
Q8BZ89 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050101
AA Change: C83S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061524
Gene: ENSMUSG00000046351
AA Change: C83S
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
81 |
103 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
109 |
131 |
3.34e-2 |
SMART |
|
ZnF_C2H2
|
137 |
159 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
165 |
187 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
193 |
215 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
221 |
243 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
249 |
271 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
277 |
299 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
303 |
325 |
5.68e1 |
SMART |
|
ZnF_C2H2
|
361 |
383 |
1.89e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122940
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000125328
AA Change: C83S
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000120804
Gene: ENSMUSG00000046351
AA Change: C83S
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
81 |
103 |
6.42e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145451
AA Change: C83S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000119883
Gene: ENSMUSG00000046351
AA Change: C83S
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
81 |
103 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
109 |
131 |
3.34e-2 |
SMART |
|
ZnF_C2H2
|
137 |
159 |
1.28e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152557
AA Change: C83S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118754
Gene: ENSMUSG00000046351
AA Change: C83S
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
81 |
103 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
109 |
131 |
3.34e-2 |
SMART |
|
ZnF_C2H2
|
137 |
159 |
1.28e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223795
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224779
|
| Meta Mutation Damage Score |
0.8689 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
98% (47/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ZNF322A is a member of the zinc-finger transcription factor family and may regulate transcriptional activation in MAPK (see MAPK1; MIM 176948) signaling pathways (Li et al., 2004 [PubMed 15555580]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apc |
T |
C |
18: 34,450,112 (GRCm39) |
I2302T |
possibly damaging |
Het |
| Apoa4 |
G |
A |
9: 46,153,653 (GRCm39) |
V85I |
probably benign |
Het |
| Banf1 |
C |
T |
19: 5,415,058 (GRCm39) |
W84* |
probably null |
Het |
| Cdk13 |
A |
G |
13: 17,893,280 (GRCm39) |
L627P |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,832,527 (GRCm39) |
E1483G |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Ddx60 |
A |
G |
8: 62,490,125 (GRCm39) |
E1698G |
probably benign |
Het |
| Depdc1a |
C |
A |
3: 159,229,503 (GRCm39) |
Q612K |
probably damaging |
Het |
| Dnaja2 |
G |
A |
8: 86,266,765 (GRCm39) |
R321C |
probably damaging |
Het |
| Fam186b |
T |
A |
15: 99,178,309 (GRCm39) |
E339V |
probably benign |
Het |
| Fga |
T |
C |
3: 82,938,704 (GRCm39) |
F360L |
probably damaging |
Het |
| Fut9 |
C |
T |
4: 25,619,823 (GRCm39) |
W330* |
probably null |
Het |
| Ghr |
T |
C |
15: 3,349,891 (GRCm39) |
N429S |
probably benign |
Het |
| Gm5444 |
A |
T |
13: 4,883,624 (GRCm39) |
|
noncoding transcript |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Hoxa5 |
T |
C |
6: 52,179,659 (GRCm39) |
I239V |
probably damaging |
Het |
| Hps6 |
T |
C |
19: 45,992,930 (GRCm39) |
V289A |
possibly damaging |
Het |
| Iqcb1 |
A |
G |
16: 36,663,801 (GRCm39) |
N190D |
possibly damaging |
Het |
| Map3k13 |
G |
A |
16: 21,717,427 (GRCm39) |
|
probably null |
Het |
| Or10ag53 |
T |
C |
2: 87,083,217 (GRCm39) |
V312A |
possibly damaging |
Het |
| Or52d13 |
A |
G |
7: 103,110,293 (GRCm39) |
Y41H |
probably damaging |
Het |
| Pacsin1 |
A |
G |
17: 27,923,885 (GRCm39) |
E93G |
possibly damaging |
Het |
| Pds5a |
A |
G |
5: 65,784,422 (GRCm39) |
|
probably null |
Het |
| Ppp1r9b |
A |
T |
11: 94,887,435 (GRCm39) |
E482D |
probably damaging |
Het |
| Rhobtb3 |
A |
G |
13: 76,058,971 (GRCm39) |
S276P |
probably benign |
Het |
| Rimbp2 |
A |
G |
5: 128,866,705 (GRCm39) |
V538A |
probably benign |
Het |
| Rmdn3 |
A |
T |
2: 118,984,008 (GRCm39) |
|
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Slc4a11 |
A |
T |
2: 130,526,379 (GRCm39) |
V855D |
probably benign |
Het |
| Speer4f1 |
C |
A |
5: 17,684,522 (GRCm39) |
N183K |
probably damaging |
Het |
| Sstr4 |
A |
T |
2: 148,238,330 (GRCm39) |
N314Y |
probably damaging |
Het |
| Synj2 |
A |
G |
17: 6,074,069 (GRCm39) |
K288E |
probably damaging |
Het |
| Trhde |
T |
A |
10: 114,428,070 (GRCm39) |
N409Y |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,611,483 (GRCm39) |
W15604R |
probably damaging |
Het |
| Ugdh |
C |
T |
5: 65,584,827 (GRCm39) |
V32I |
possibly damaging |
Het |
| Uhrf1 |
C |
A |
17: 56,617,671 (GRCm39) |
|
probably null |
Het |
| Vps13d |
G |
T |
4: 144,875,256 (GRCm39) |
D1750E |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,036,189 (GRCm39) |
|
probably benign |
Het |
| Wnt4 |
C |
A |
4: 137,023,831 (GRCm39) |
T266K |
probably benign |
Het |
| Wtap |
C |
T |
17: 13,186,425 (GRCm39) |
R374Q |
possibly damaging |
Het |
|
| Other mutations in Zfp322a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02579:Zfp322a
|
APN |
13 |
23,541,613 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1395:Zfp322a
|
UTSW |
13 |
23,540,945 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1975:Zfp322a
|
UTSW |
13 |
23,541,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2100:Zfp322a
|
UTSW |
13 |
23,541,460 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2571:Zfp322a
|
UTSW |
13 |
23,540,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4959:Zfp322a
|
UTSW |
13 |
23,541,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5245:Zfp322a
|
UTSW |
13 |
23,541,156 (GRCm39) |
nonsense |
probably null |
|
|
R5310:Zfp322a
|
UTSW |
13 |
23,541,532 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5389:Zfp322a
|
UTSW |
13 |
23,541,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5525:Zfp322a
|
UTSW |
13 |
23,541,685 (GRCm39) |
missense |
probably benign |
|
|
R5810:Zfp322a
|
UTSW |
13 |
23,541,579 (GRCm39) |
nonsense |
probably null |
|
|
R7299:Zfp322a
|
UTSW |
13 |
23,541,314 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7299:Zfp322a
|
UTSW |
13 |
23,541,313 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7301:Zfp322a
|
UTSW |
13 |
23,541,314 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7301:Zfp322a
|
UTSW |
13 |
23,541,313 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8670:Zfp322a
|
UTSW |
13 |
23,541,274 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9108:Zfp322a
|
UTSW |
13 |
23,541,437 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9789:Zfp322a
|
UTSW |
13 |
23,540,558 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAAGTCACTCTCACACATAGA -3'
(R):5'- GGAAAACATACCATGTATGCCC -3'
Sequencing Primer
(F):5'- ATTCTTGCCACAGATGTCACAGG -3'
(R):5'- TACCATGTATGCCCTCAAAAGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation