Incidental Mutation 'IGL03228:Arid3a'
| ID |
413799 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arid3a
|
| Ensembl Gene |
ENSMUSG00000019564 |
| Gene Name |
AT-rich interaction domain 3A |
| Synonyms |
Dri1, Bright |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03228
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
79762877-79790852 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79786578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 444
(V444I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101015
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019708]
[ENSMUST00000105376]
[ENSMUST00000105377]
|
| AlphaFold |
Q62431 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019708
AA Change: V444I
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000019708
Gene: ENSMUSG00000019564
AA Change: V444I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
27 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
90 |
N/A |
INTRINSIC |
|
coiled coil region
|
133 |
167 |
N/A |
INTRINSIC |
|
ARID
|
240 |
331 |
2.1e-36 |
SMART |
|
BRIGHT
|
244 |
336 |
7.73e-42 |
SMART |
|
coiled coil region
|
436 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
552 |
N/A |
INTRINSIC |
|
low complexity region
|
555 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
588 |
599 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105376
AA Change: V444I
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101015
Gene: ENSMUSG00000019564
AA Change: V444I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
27 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
90 |
N/A |
INTRINSIC |
|
coiled coil region
|
133 |
167 |
N/A |
INTRINSIC |
|
ARID
|
240 |
331 |
2.1e-36 |
SMART |
|
BRIGHT
|
244 |
336 |
7.73e-42 |
SMART |
|
coiled coil region
|
436 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
552 |
N/A |
INTRINSIC |
|
low complexity region
|
555 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
588 |
599 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105377
AA Change: V442I
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000101016
Gene: ENSMUSG00000019564
AA Change: V442I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
27 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
90 |
N/A |
INTRINSIC |
|
coiled coil region
|
133 |
167 |
N/A |
INTRINSIC |
|
ARID
|
240 |
331 |
2.1e-36 |
SMART |
|
BRIGHT
|
244 |
336 |
7.73e-42 |
SMART |
|
coiled coil region
|
434 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
539 |
550 |
N/A |
INTRINSIC |
|
low complexity region
|
553 |
581 |
N/A |
INTRINSIC |
|
low complexity region
|
586 |
597 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135005
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA binding proteins. It was found by homology to the Drosophila dead ringer gene, which is important for normal embryogenesis. Other 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]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality between E11.5 and E13.5 due to impaired erythropoiesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Catsperg2 |
T |
C |
7: 29,397,650 (GRCm39) |
Y1021C |
probably damaging |
Het |
| Cbx1 |
A |
G |
11: 96,691,631 (GRCm39) |
|
probably benign |
Het |
| Cdk15 |
G |
T |
1: 59,297,912 (GRCm39) |
K106N |
possibly damaging |
Het |
| Itpkb |
A |
T |
1: 180,241,564 (GRCm39) |
R745W |
probably damaging |
Het |
| Kdr |
T |
A |
5: 76,117,708 (GRCm39) |
I682F |
probably damaging |
Het |
| Klhl1 |
T |
A |
14: 96,477,763 (GRCm39) |
E435V |
probably damaging |
Het |
| Lamp3 |
T |
A |
16: 19,494,817 (GRCm39) |
Y296F |
possibly damaging |
Het |
| Ltb4r2 |
A |
T |
14: 55,999,408 (GRCm39) |
N10Y |
probably damaging |
Het |
| Mmrn1 |
C |
T |
6: 60,921,876 (GRCm39) |
P111L |
probably benign |
Het |
| Nt5c |
A |
G |
11: 115,381,987 (GRCm39) |
Y107H |
probably damaging |
Het |
| Or2m12 |
A |
C |
16: 19,105,140 (GRCm39) |
L118V |
probably damaging |
Het |
| Or5p53 |
T |
A |
7: 107,533,330 (GRCm39) |
I201N |
possibly damaging |
Het |
| Or8h9 |
A |
G |
2: 86,789,050 (GRCm39) |
F251L |
probably benign |
Het |
| Piezo2 |
T |
A |
18: 63,186,133 (GRCm39) |
S1679C |
probably damaging |
Het |
| Plac8l1 |
T |
A |
18: 42,325,672 (GRCm39) |
S78C |
probably damaging |
Het |
| Scyl2 |
A |
T |
10: 89,485,942 (GRCm39) |
I549N |
probably damaging |
Het |
| Slc51a |
G |
A |
16: 32,297,568 (GRCm39) |
R110C |
probably damaging |
Het |
| Slc6a20b |
G |
T |
9: 123,461,197 (GRCm39) |
Y65* |
probably null |
Het |
| Stx11 |
G |
A |
10: 12,816,956 (GRCm39) |
T256M |
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,026,686 (GRCm39) |
C3505R |
probably benign |
Het |
| Trim75 |
A |
G |
8: 65,436,006 (GRCm39) |
L148P |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,156,909 (GRCm39) |
N2311K |
probably damaging |
Het |
| Zfp553 |
A |
G |
7: 126,835,249 (GRCm39) |
H268R |
probably damaging |
Het |
|
| Other mutations in Arid3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01445:Arid3a
|
APN |
10 |
79,786,468 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02563:Arid3a
|
APN |
10 |
79,786,717 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03144:Arid3a
|
APN |
10 |
79,782,316 (GRCm39) |
splice site |
probably benign |
|
|
IGL03347:Arid3a
|
APN |
10 |
79,787,113 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0049:Arid3a
|
UTSW |
10 |
79,766,899 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0408:Arid3a
|
UTSW |
10 |
79,786,667 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0479:Arid3a
|
UTSW |
10 |
79,787,128 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1938:Arid3a
|
UTSW |
10 |
79,786,540 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2190:Arid3a
|
UTSW |
10 |
79,782,365 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4628:Arid3a
|
UTSW |
10 |
79,766,992 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5184:Arid3a
|
UTSW |
10 |
79,786,603 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7014:Arid3a
|
UTSW |
10 |
79,786,718 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7966:Arid3a
|
UTSW |
10 |
79,767,889 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8207:Arid3a
|
UTSW |
10 |
79,786,760 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8294:Arid3a
|
UTSW |
10 |
79,786,535 (GRCm39) |
synonymous |
silent |
|
|
R8918:Arid3a
|
UTSW |
10 |
79,784,765 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9142:Arid3a
|
UTSW |
10 |
79,787,612 (GRCm39) |
missense |
unknown |
|
|
Z1177:Arid3a
|
UTSW |
10 |
79,785,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation