Incidental Mutation 'IGL02297:Arid3c'
| ID | 290204 |
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| Institutional Source |
Australian Phenomics Network
(link to record)
|
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| Gene Symbol |
Arid3c
|
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| Ensembl Gene |
ENSMUSG00000066224 |
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| Gene Name | AT rich interactive domain 3C (BRIGHT-like) |
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| Synonyms | OTTMUSG00000006683 |
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| Accession Numbers | |
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| Is this an essential gene? |
Possibly non essential (E-score: 0.461)
|
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| Stock # | IGL02297
|
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| Quality Score | |
|---|
| Status |
|
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| Chromosome | 4 |
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| Chromosomal Location | 41723836-41731142 bp(-) (GRCm38) |
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| Type of Mutation | missense |
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| DNA Base Change (assembly) |
T to C
at 41730021 bp
|
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| Zygosity | Heterozygous |
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| Amino Acid Change |
Glutamic Acid to Glycine
at position 58
(E58G)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000127678
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084698]
[ENSMUST00000108041]
[ENSMUST00000150809]
[ENSMUST00000159930]
[ENSMUST00000171251]
|
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| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084698
AA Change: E58G
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
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| SMART Domains |
Protein: ENSMUSP00000081748
Gene: ENSMUSG00000066224
AA Change: E58G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
18 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
71 |
N/A |
INTRINSIC |
|
ARID
|
107 |
198 |
5.47e-35 |
SMART |
|
BRIGHT
|
111 |
203 |
3.7e-39 |
SMART |
|
low complexity region
|
235 |
257 |
N/A |
INTRINSIC |
|
Blast:ARID
|
283 |
327 |
2e-12 |
BLAST |
|
low complexity region
|
387 |
409 |
N/A |
INTRINSIC |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000108041
|
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| SMART Domains |
Protein: ENSMUSP00000103676
Gene: ENSMUSG00000073889
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
IG
|
33 |
108 |
5.75e-4 |
SMART |
|
FN3
|
112 |
204 |
2.18e-2 |
SMART |
|
FN3
|
218 |
304 |
4.93e-1 |
SMART |
|
low complexity region
|
354 |
365 |
N/A |
INTRINSIC |
|
transmembrane domain
|
369 |
391 |
N/A |
INTRINSIC |
|
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| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000150809
AA Change: E58G
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000116411
Gene: ENSMUSG00000066224
AA Change: E58G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
18 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
71 |
N/A |
INTRINSIC |
|
ARID
|
107 |
198 |
5.47e-35 |
SMART |
|
BRIGHT
|
111 |
203 |
3.7e-39 |
SMART |
|
low complexity region
|
235 |
257 |
N/A |
INTRINSIC |
|
Blast:ARID
|
283 |
327 |
2e-12 |
BLAST |
|
low complexity region
|
357 |
379 |
N/A |
INTRINSIC |
|
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| Predicted Effect |
unknown
Transcript: ENSMUST00000159930
AA Change: E58G
|
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| SMART Domains |
Protein: ENSMUSP00000124563
Gene: ENSMUSG00000066224
AA Change: E58G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
18 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
71 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171251
AA Change: E58G
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000127678
Gene: ENSMUSG00000066224
AA Change: E58G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
18 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
71 |
N/A |
INTRINSIC |
|
ARID
|
107 |
198 |
5.47e-35 |
SMART |
|
BRIGHT
|
111 |
203 |
3.7e-39 |
SMART |
|
low complexity region
|
235 |
257 |
N/A |
INTRINSIC |
|
Blast:ARID
|
283 |
327 |
2e-12 |
BLAST |
|
low complexity region
|
387 |
409 |
N/A |
INTRINSIC |
|
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| Coding Region Coverage |
|
|---|
| Validation Efficiency |
|
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| MGI Phenotype |
FUNCTION: This gene is a member of the ARID (AT-rich interaction domain) family of proteins. The ARID domain is a helix-turn-helix motif-based DNA-binding domain. ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008]
|
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aifm2 |
C |
T |
10: 61,735,548 |
A287V |
possibly damaging |
Het |
| Aqr |
A |
G |
2: 114,150,481 |
I273T |
probably benign |
Het |
| Col5a3 |
G |
T |
9: 20,772,154 |
T1574K |
unknown |
Het |
| Dbh |
T |
C |
2: 27,177,736 |
V457A |
probably benign |
Het |
| Gm12888 |
T |
C |
4: 121,324,799 |
E32G |
probably damaging |
Het |
| Gnaq |
A |
G |
19: 16,378,251 |
D277G |
probably damaging |
Het |
| Il20 |
G |
A |
1: 130,908,408 |
H133Y |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,339,517 |
F58L |
possibly damaging |
Het |
| Lynx1 |
G |
T |
15: 74,751,642 |
Q19K |
probably benign |
Het |
| Lyst |
G |
T |
13: 13,638,092 |
E1030* |
probably null |
Het |
| Matn1 |
T |
A |
4: 130,952,264 |
|
probably benign |
Het |
| Nav2 |
A |
T |
7: 49,594,229 |
N2068I |
probably damaging |
Het |
| Olfr1469 |
C |
T |
19: 13,411,475 |
T302I |
probably benign |
Het |
| Olfr948 |
T |
C |
9: 39,318,703 |
I304V |
possibly damaging |
Het |
| Slc25a23 |
G |
T |
17: 57,053,324 |
Q273K |
probably benign |
Het |
| Slco4a1 |
T |
G |
2: 180,464,489 |
C155G |
probably benign |
Het |
| Txnip |
T |
C |
3: 96,558,357 |
V41A |
probably damaging |
Het |
| Wnt16 |
C |
A |
6: 22,297,991 |
Y285* |
probably null |
Het |
|
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| Other mutations in Arid3c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0445:Arid3c
|
UTSW |
4 |
41725172 |
missense |
probably benign |
0.00 |
|
R0675:Arid3c
|
UTSW |
4 |
41725958 |
missense |
probably damaging |
1.00 |
|
R1617:Arid3c
|
UTSW |
4 |
41725103 |
missense |
probably damaging |
1.00 |
|
R1711:Arid3c
|
UTSW |
4 |
41725947 |
missense |
probably damaging |
0.99 |
|
R1929:Arid3c
|
UTSW |
4 |
41724744 |
missense |
probably damaging |
1.00 |
|
R2270:Arid3c
|
UTSW |
4 |
41724744 |
missense |
probably damaging |
1.00 |
|
R2271:Arid3c
|
UTSW |
4 |
41724744 |
missense |
probably damaging |
1.00 |
|
R2272:Arid3c
|
UTSW |
4 |
41724744 |
missense |
probably damaging |
1.00 |
|
R2867:Arid3c
|
UTSW |
4 |
41725958 |
missense |
probably damaging |
1.00 |
|
R2867:Arid3c
|
UTSW |
4 |
41725958 |
missense |
probably damaging |
1.00 |
|
R4818:Arid3c
|
UTSW |
4 |
41730072 |
missense |
possibly damaging |
0.72 |
|
R5622:Arid3c
|
UTSW |
4 |
41729959 |
missense |
probably benign |
0.02 |
|
R6289:Arid3c
|
UTSW |
4 |
41724285 |
unclassified |
probably benign |
|
|
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| Posted On | 2015-04-16 |
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