Incidental Mutation 'IGL02579:Zfp322a'
| ID |
299304 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp322a
|
| Ensembl Gene |
ENSMUSG00000046351 |
| Gene Name |
zinc finger protein 322A |
| Synonyms |
9630054P07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
IGL02579
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
23537273-23553378 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23541613 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 43
(V43E)
|
| 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: V43E
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000061524
Gene: ENSMUSG00000046351
AA Change: V43E
| 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: V43E
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000120804
Gene: ENSMUSG00000046351
AA Change: V43E
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
81 |
103 |
6.42e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145451
AA Change: V43E
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119883
Gene: ENSMUSG00000046351
AA Change: V43E
| 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: V43E
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118754
Gene: ENSMUSG00000046351
AA Change: V43E
| 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 |
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
G |
5: 9,005,537 (GRCm39) |
E1140G |
probably damaging |
Het |
| Alcam |
T |
C |
16: 52,091,135 (GRCm39) |
E461G |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,176,175 (GRCm39) |
|
probably benign |
Het |
| Calhm6 |
C |
A |
10: 34,003,423 (GRCm39) |
M161I |
probably benign |
Het |
| Dnmt1 |
A |
G |
9: 20,829,416 (GRCm39) |
M729T |
possibly damaging |
Het |
| Enpep |
G |
A |
3: 129,077,739 (GRCm39) |
T626M |
probably benign |
Het |
| Gje1 |
A |
T |
10: 14,592,492 (GRCm39) |
C97S |
probably benign |
Het |
| Igkv4-58 |
T |
A |
6: 69,477,385 (GRCm39) |
I71F |
probably damaging |
Het |
| Itfg1 |
G |
A |
8: 86,507,194 (GRCm39) |
T222M |
possibly damaging |
Het |
| Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
| Mtmr6 |
T |
A |
14: 60,519,378 (GRCm39) |
|
probably benign |
Het |
| Nwd1 |
A |
T |
8: 73,434,155 (GRCm39) |
I1251F |
probably damaging |
Het |
| Or5b101 |
T |
C |
19: 13,004,892 (GRCm39) |
D267G |
probably damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Pold1 |
T |
C |
7: 44,192,703 (GRCm39) |
E53G |
probably damaging |
Het |
| Prkdc |
A |
T |
16: 15,488,465 (GRCm39) |
D529V |
possibly damaging |
Het |
| Rgl2 |
A |
G |
17: 34,156,134 (GRCm39) |
T741A |
probably benign |
Het |
| Tex44 |
A |
G |
1: 86,354,169 (GRCm39) |
N26S |
probably benign |
Het |
| Traf5 |
G |
T |
1: 191,731,848 (GRCm39) |
P28Q |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,589,433 (GRCm39) |
Y21274H |
probably damaging |
Het |
| Vmn2r76 |
T |
A |
7: 85,877,961 (GRCm39) |
K479* |
probably null |
Het |
| Zfp385c |
C |
A |
11: 100,521,605 (GRCm39) |
G152C |
probably damaging |
Het |
| Zfpm2 |
A |
T |
15: 40,962,868 (GRCm39) |
N177Y |
possibly damaging |
Het |
|
| Other mutations in Zfp322a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation