Incidental Mutation 'R5525:Zfp322a'
| ID |
431823 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp322a
|
| Ensembl Gene |
ENSMUSG00000046351 |
| Gene Name |
zinc finger protein 322A |
| Synonyms |
9630054P07Rik |
| MMRRC Submission |
043083-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R5525 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
23537273-23553378 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23541685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 19
(V19A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119883
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050101]
[ENSMUST00000125328]
[ENSMUST00000145451]
[ENSMUST00000152557]
|
| AlphaFold |
Q8BZ89 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000050101
AA Change: V19A
|
| SMART Domains |
Protein: ENSMUSP00000061524
Gene: ENSMUSG00000046351
AA Change: V19A
| 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 |
unknown
Transcript: ENSMUST00000125328
AA Change: V19A
|
| SMART Domains |
Protein: ENSMUSP00000120804
Gene: ENSMUSG00000046351
AA Change: V19A
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
81 |
103 |
6.42e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145451
AA Change: V19A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119883
Gene: ENSMUSG00000046351
AA Change: V19A
| 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 |
unknown
Transcript: ENSMUST00000152557
AA Change: V19A
|
| SMART Domains |
Protein: ENSMUSP00000118754
Gene: ENSMUSG00000046351
AA Change: V19A
| 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
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.9%
|
| Validation Efficiency |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,749,731 (GRCm39) |
T1501A |
probably benign |
Het |
| Acin1 |
G |
A |
14: 54,901,848 (GRCm39) |
A648V |
possibly damaging |
Het |
| Agap1 |
A |
G |
1: 89,671,495 (GRCm39) |
T401A |
possibly damaging |
Het |
| Anapc4 |
T |
G |
5: 53,014,151 (GRCm39) |
M440R |
probably damaging |
Het |
| Ankrd26 |
A |
G |
6: 118,504,692 (GRCm39) |
M739T |
probably benign |
Het |
| Brip1 |
T |
C |
11: 86,001,273 (GRCm39) |
E721G |
possibly damaging |
Het |
| Bzw1 |
A |
G |
1: 58,442,065 (GRCm39) |
E221G |
possibly damaging |
Het |
| Cenpm |
A |
C |
15: 82,123,492 (GRCm39) |
|
probably null |
Het |
| Exosc1 |
T |
A |
19: 41,912,457 (GRCm39) |
K143N |
probably damaging |
Het |
| Fgd5 |
T |
A |
6: 92,043,228 (GRCm39) |
L1236Q |
probably damaging |
Het |
| Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
| Grm3 |
C |
T |
5: 9,554,872 (GRCm39) |
V807I |
probably damaging |
Het |
| Kndc1 |
A |
G |
7: 139,504,026 (GRCm39) |
N1110S |
probably benign |
Het |
| Magi1 |
A |
T |
6: 93,769,354 (GRCm39) |
V17D |
possibly damaging |
Het |
| Mdn1 |
T |
G |
4: 32,767,961 (GRCm39) |
M5298R |
possibly damaging |
Het |
| Nlrp9c |
T |
A |
7: 26,083,926 (GRCm39) |
E551V |
probably damaging |
Het |
| Oacyl |
A |
C |
18: 65,878,427 (GRCm39) |
I457L |
probably benign |
Het |
| Or12d13 |
C |
T |
17: 37,647,517 (GRCm39) |
G202D |
probably damaging |
Het |
| Or5p69 |
A |
G |
7: 107,967,206 (GRCm39) |
I170V |
probably benign |
Het |
| Or5t17 |
A |
T |
2: 86,832,683 (GRCm39) |
E123D |
possibly damaging |
Het |
| Rab11fip3 |
T |
C |
17: 26,210,269 (GRCm39) |
E996G |
probably damaging |
Het |
| Rabep1 |
T |
A |
11: 70,813,972 (GRCm39) |
S554T |
probably damaging |
Het |
| Rln1 |
T |
C |
19: 29,311,920 (GRCm39) |
E26G |
probably benign |
Het |
| Rpf1 |
A |
G |
3: 146,223,559 (GRCm39) |
|
silent |
Het |
| Sdk1 |
T |
C |
5: 142,171,020 (GRCm39) |
V1961A |
possibly damaging |
Het |
| Serpinb8 |
A |
T |
1: 107,535,023 (GRCm39) |
I365F |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,623,846 (GRCm39) |
D277G |
probably damaging |
Het |
| Snapc4 |
ACTGCTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGC |
2: 26,259,538 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
T |
C |
6: 12,332,006 (GRCm39) |
T1269A |
possibly damaging |
Het |
| Ttll3 |
A |
G |
6: 113,389,939 (GRCm39) |
N776D |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,645,773 (GRCm39) |
E1483G |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,485,803 (GRCm39) |
D2971G |
probably benign |
Het |
| Zfp462 |
C |
A |
4: 55,050,281 (GRCm39) |
P2164T |
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 |
|
R2332:Zfp322a
|
UTSW |
13 |
23,541,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- AAGATCTGATTTCCCACTAAAAGC -3'
(R):5'- GTCTCATAGGTTTGGAGGTACC -3'
Sequencing Primer
(F):5'- AGTGGTGCCAAAAGCTCTTC -3'
(R):5'- TGGAGGTACCAAGTAAGAAACTAATG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation