Incidental Mutation 'IGL00432:Arid3b'
| ID |
4874 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arid3b
|
| Ensembl Gene |
ENSMUSG00000004661 |
| Gene Name |
AT-rich interaction domain 3B |
| Synonyms |
Bdp, Dri2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00432
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
57697636-57744076 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57741207 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 80
(S80P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004780]
[ENSMUST00000098686]
[ENSMUST00000114165]
[ENSMUST00000164010]
[ENSMUST00000164035]
[ENSMUST00000171444]
|
| AlphaFold |
Q9Z1N7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000004780
AA Change: S80P
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000004780
Gene: ENSMUSG00000004661
AA Change: S80P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
116 |
N/A |
INTRINSIC |
|
ARID
|
210 |
301 |
9.52e-35 |
SMART |
|
BRIGHT
|
214 |
306 |
6.43e-39 |
SMART |
|
low complexity region
|
339 |
358 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
386 |
N/A |
INTRINSIC |
|
low complexity region
|
528 |
559 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098686
AA Change: S80P
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000096283
Gene: ENSMUSG00000004661
AA Change: S80P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
116 |
N/A |
INTRINSIC |
|
ARID
|
210 |
301 |
9.52e-35 |
SMART |
|
BRIGHT
|
214 |
306 |
6.43e-39 |
SMART |
|
low complexity region
|
339 |
358 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
386 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114165
AA Change: S80P
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109802
Gene: ENSMUSG00000004661
AA Change: S80P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
116 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163186
|
| SMART Domains |
Protein: ENSMUSP00000130053
Gene: ENSMUSG00000091908
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
116 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164010
AA Change: S80P
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126889
Gene: ENSMUSG00000004661
AA Change: S80P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
116 |
N/A |
INTRINSIC |
|
SCOP:d1c20a_
|
174 |
240 |
6e-9 |
SMART |
|
PDB:4LJX|B
|
204 |
238 |
4e-9 |
PDB |
|
Blast:ARID
|
210 |
231 |
5e-7 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164035
AA Change: S80P
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131677
Gene: ENSMUSG00000004661
AA Change: S80P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
116 |
N/A |
INTRINSIC |
|
SCOP:d1c20a_
|
174 |
233 |
2e-8 |
SMART |
|
PDB:4LJX|B
|
204 |
268 |
1e-10 |
PDB |
|
Blast:ARID
|
210 |
267 |
3e-8 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165858
|
| SMART Domains |
Protein: ENSMUSP00000130213
Gene: ENSMUSG00000091908
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
116 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167670
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171444
AA Change: S80P
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000130173
Gene: ENSMUSG00000004661
AA Change: S80P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
116 |
N/A |
INTRINSIC |
|
ARID
|
210 |
301 |
9.52e-35 |
SMART |
|
BRIGHT
|
214 |
306 |
6.43e-39 |
SMART |
|
low complexity region
|
339 |
358 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
386 |
N/A |
INTRINSIC |
|
low complexity region
|
528 |
559 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170133
|
| 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. The encoded protein is homologous with two proteins that bind to the retinoblastoma gene product, and also with the mouse Bright and Drosophila dead ringer proteins. A pseudogene on chromosome 1p31 exists for this gene. Members of the ARID family 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 die before E11.5 displaying variable phenotypes associated with impaired generation of cranial-mesenchymal cells in the first and second branchial arches. Common defects include a wavy neural tube, small branchial arches, and a defective cardiovascular system. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
A |
T |
1: 130,670,573 (GRCm39) |
Q265L |
possibly damaging |
Het |
| Akr1c18 |
T |
A |
13: 4,187,232 (GRCm39) |
H168L |
probably damaging |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Brd1 |
A |
C |
15: 88,614,361 (GRCm39) |
V178G |
probably benign |
Het |
| Brd2 |
C |
T |
17: 34,333,397 (GRCm39) |
R26Q |
probably damaging |
Het |
| Ddr2 |
T |
C |
1: 169,825,527 (GRCm39) |
M358V |
probably benign |
Het |
| Dnajc14 |
A |
G |
10: 128,642,201 (GRCm39) |
D41G |
probably damaging |
Het |
| Erap1 |
T |
G |
13: 74,821,778 (GRCm39) |
V711G |
probably benign |
Het |
| Gchfr |
A |
G |
2: 119,000,229 (GRCm39) |
R37G |
probably damaging |
Het |
| Gm20518 |
T |
A |
16: 17,676,362 (GRCm39) |
N136I |
probably damaging |
Het |
| Grm6 |
A |
T |
11: 50,754,124 (GRCm39) |
|
probably benign |
Het |
| Hydin |
T |
A |
8: 111,327,884 (GRCm39) |
V4797E |
probably damaging |
Het |
| Iws1 |
C |
A |
18: 32,217,741 (GRCm39) |
N448K |
probably benign |
Het |
| Lin7c |
T |
C |
2: 109,726,798 (GRCm39) |
|
probably benign |
Het |
| Lrrc40 |
T |
A |
3: 157,754,087 (GRCm39) |
L196Q |
probably damaging |
Het |
| Lrrtm2 |
C |
T |
18: 35,346,321 (GRCm39) |
G327D |
probably benign |
Het |
| Masp1 |
C |
T |
16: 23,332,601 (GRCm39) |
C78Y |
probably damaging |
Het |
| Mmd |
C |
T |
11: 90,155,360 (GRCm39) |
R101W |
probably damaging |
Het |
| Myo1d |
A |
G |
11: 80,492,566 (GRCm39) |
Y730H |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,126,914 (GRCm39) |
|
probably benign |
Het |
| Pglyrp4 |
G |
A |
3: 90,646,335 (GRCm39) |
V290M |
probably damaging |
Het |
| Plxna2 |
G |
A |
1: 194,326,404 (GRCm39) |
V113I |
probably benign |
Het |
| Prkch |
T |
A |
12: 73,749,363 (GRCm39) |
|
probably benign |
Het |
| Rabgef1 |
G |
T |
5: 130,237,565 (GRCm39) |
E213* |
probably null |
Het |
| Rdh16f2 |
T |
A |
10: 127,702,533 (GRCm39) |
C37S |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,215,125 (GRCm39) |
Y1109H |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,572,326 (GRCm39) |
L215* |
probably null |
Het |
| Slc25a33 |
A |
T |
4: 149,829,376 (GRCm39) |
L261H |
probably damaging |
Het |
| Slc28a3 |
A |
T |
13: 58,717,225 (GRCm39) |
|
probably null |
Het |
| Slc38a6 |
T |
C |
12: 73,398,577 (GRCm39) |
I369T |
probably benign |
Het |
| Tgm4 |
A |
T |
9: 122,891,447 (GRCm39) |
|
probably benign |
Het |
| Tnr |
A |
G |
1: 159,688,815 (GRCm39) |
I426V |
probably benign |
Het |
| Vmn1r216 |
A |
G |
13: 23,283,574 (GRCm39) |
I86V |
probably benign |
Het |
| Wwc1 |
G |
A |
11: 35,735,029 (GRCm39) |
P949S |
possibly damaging |
Het |
| Zfp326 |
A |
T |
5: 106,044,399 (GRCm39) |
I286F |
probably damaging |
Het |
|
| Other mutations in Arid3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01394:Arid3b
|
APN |
9 |
57,702,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01950:Arid3b
|
APN |
9 |
57,702,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0970:Arid3b
|
UTSW |
9 |
57,740,834 (GRCm39) |
intron |
probably benign |
|
|
R1848:Arid3b
|
UTSW |
9 |
57,703,960 (GRCm39) |
nonsense |
probably null |
|
|
R1940:Arid3b
|
UTSW |
9 |
57,703,431 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4290:Arid3b
|
UTSW |
9 |
57,697,713 (GRCm39) |
unclassified |
probably benign |
|
|
R4293:Arid3b
|
UTSW |
9 |
57,697,713 (GRCm39) |
unclassified |
probably benign |
|
|
R4424:Arid3b
|
UTSW |
9 |
57,741,151 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4449:Arid3b
|
UTSW |
9 |
57,705,404 (GRCm39) |
nonsense |
probably null |
|
|
R5353:Arid3b
|
UTSW |
9 |
57,702,320 (GRCm39) |
splice site |
probably null |
|
|
R5544:Arid3b
|
UTSW |
9 |
57,705,380 (GRCm39) |
nonsense |
probably null |
|
|
R6828:Arid3b
|
UTSW |
9 |
57,717,446 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7168:Arid3b
|
UTSW |
9 |
57,712,818 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7254:Arid3b
|
UTSW |
9 |
57,704,037 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7398:Arid3b
|
UTSW |
9 |
57,703,495 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7882:Arid3b
|
UTSW |
9 |
57,703,780 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7891:Arid3b
|
UTSW |
9 |
57,717,442 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8877:Arid3b
|
UTSW |
9 |
57,740,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9043:Arid3b
|
UTSW |
9 |
57,699,900 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9094:Arid3b
|
UTSW |
9 |
57,741,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9186:Arid3b
|
UTSW |
9 |
57,702,217 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation