Incidental Mutation 'R7882:Arid3b'
| ID |
608829 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arid3b
|
| Ensembl Gene |
ENSMUSG00000004661 |
| Gene Name |
AT-rich interaction domain 3B |
| Synonyms |
Bdp, Dri2 |
| MMRRC Submission |
045934-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7882 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
57697636-57744076 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57703780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 389
(I389M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004780
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004780]
[ENSMUST00000098686]
[ENSMUST00000114165]
[ENSMUST00000164010]
[ENSMUST00000164035]
[ENSMUST00000170477]
[ENSMUST00000171444]
[ENSMUST00000171949]
|
| AlphaFold |
Q9Z1N7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000004780
AA Change: I389M
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000004780
Gene: ENSMUSG00000004661
AA Change: I389M
| 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: I389M
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000096283
Gene: ENSMUSG00000004661
AA Change: I389M
| 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 |
probably benign
Transcript: ENSMUST00000114165
|
| SMART Domains |
Protein: ENSMUSP00000109802
Gene: ENSMUSG00000004661
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
116 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164010
|
| SMART Domains |
Protein: ENSMUSP00000126889
Gene: ENSMUSG00000004661
| 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 |
probably benign
Transcript: ENSMUST00000164035
|
| SMART Domains |
Protein: ENSMUSP00000131677
Gene: ENSMUSG00000004661
| 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 |
probably benign
Transcript: ENSMUST00000170477
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171444
AA Change: I389M
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000130173
Gene: ENSMUSG00000004661
AA Change: I389M
| 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 |
probably benign
Transcript: ENSMUST00000171949
|
| SMART Domains |
Protein: ENSMUSP00000127525
Gene: ENSMUSG00000004661
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
85 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (48/48) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadm |
C |
A |
3: 153,644,250 (GRCm39) |
E110* |
probably null |
Het |
| Adad1 |
G |
T |
3: 37,133,951 (GRCm39) |
V289F |
probably damaging |
Het |
| Adgra2 |
A |
G |
8: 27,607,440 (GRCm39) |
D717G |
probably benign |
Het |
| Axdnd1 |
A |
G |
1: 156,225,023 (GRCm39) |
V47A |
|
Het |
| Cachd1 |
T |
A |
4: 100,824,244 (GRCm39) |
L562M |
probably benign |
Het |
| Cadm2 |
A |
T |
16: 66,528,357 (GRCm39) |
I326N |
probably benign |
Het |
| Ccpg1 |
T |
C |
9: 72,922,787 (GRCm39) |
F799S |
probably damaging |
Het |
| Ces1c |
T |
C |
8: 93,833,231 (GRCm39) |
I411M |
probably benign |
Het |
| Cgn |
T |
G |
3: 94,669,941 (GRCm39) |
K1066N |
probably damaging |
Het |
| Cntn4 |
A |
G |
6: 106,330,684 (GRCm39) |
I101V |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,060,592 (GRCm39) |
E1928G |
probably benign |
Het |
| Cxcl12 |
A |
G |
6: 117,148,464 (GRCm39) |
Y28C |
probably damaging |
Het |
| Cyp2r1 |
A |
T |
7: 114,153,824 (GRCm39) |
|
probably null |
Het |
| D430041D05Rik |
C |
T |
2: 104,087,974 (GRCm39) |
W334* |
probably null |
Het |
| Dsp |
G |
A |
13: 38,367,994 (GRCm39) |
R671Q |
possibly damaging |
Het |
| Fancm |
A |
G |
12: 65,173,568 (GRCm39) |
K1960R |
probably benign |
Het |
| Fgd5 |
T |
A |
6: 92,045,459 (GRCm39) |
Y1331N |
probably damaging |
Het |
| Ina |
G |
A |
19: 47,004,100 (GRCm39) |
E303K |
|
Het |
| Kctd3 |
C |
A |
1: 188,715,243 (GRCm39) |
V369F |
possibly damaging |
Het |
| Kif14 |
T |
C |
1: 136,399,314 (GRCm39) |
|
probably null |
Het |
| Kif14 |
T |
C |
1: 136,443,763 (GRCm39) |
V1312A |
probably benign |
Het |
| Krt84 |
T |
C |
15: 101,436,826 (GRCm39) |
I403V |
probably benign |
Het |
| Krtap9-1 |
A |
C |
11: 99,764,356 (GRCm39) |
T31P |
unknown |
Het |
| Lyrm9 |
A |
T |
11: 78,728,967 (GRCm39) |
I60F |
probably damaging |
Het |
| Mast1 |
A |
G |
8: 85,639,947 (GRCm39) |
|
probably null |
Het |
| Mmp28 |
T |
C |
11: 83,334,752 (GRCm39) |
D334G |
probably damaging |
Het |
| Nr1h5 |
T |
C |
3: 102,856,931 (GRCm39) |
T194A |
possibly damaging |
Het |
| Nrf1 |
A |
G |
6: 30,090,299 (GRCm39) |
I85M |
probably benign |
Het |
| Nrp2 |
C |
T |
1: 62,822,680 (GRCm39) |
R758C |
probably damaging |
Het |
| Or5b116 |
A |
T |
19: 13,422,951 (GRCm39) |
T192S |
probably benign |
Het |
| Pcdhga4 |
A |
G |
18: 37,819,681 (GRCm39) |
D410G |
probably damaging |
Het |
| Pld1 |
T |
C |
3: 28,099,158 (GRCm39) |
V275A |
probably damaging |
Het |
| Plxnc1 |
A |
T |
10: 94,679,698 (GRCm39) |
F895I |
probably benign |
Het |
| Polr2a |
A |
G |
11: 69,627,000 (GRCm39) |
I1486T |
possibly damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,002,256 (GRCm39) |
M1449V |
probably benign |
Het |
| Rspo4 |
C |
A |
2: 151,711,746 (GRCm39) |
T156N |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,444,520 (GRCm39) |
I2189V |
probably benign |
Het |
| Stat5b |
A |
C |
11: 100,674,601 (GRCm39) |
F711V |
possibly damaging |
Het |
| Stk11ip |
C |
A |
1: 75,506,108 (GRCm39) |
Q543K |
probably benign |
Het |
| Tarbp1 |
G |
A |
8: 127,183,232 (GRCm39) |
T529M |
probably damaging |
Het |
| Thada |
A |
T |
17: 84,736,624 (GRCm39) |
C886S |
possibly damaging |
Het |
| Tmem19 |
A |
G |
10: 115,179,608 (GRCm39) |
F296S |
probably benign |
Het |
| Tnfsf13b |
A |
G |
8: 10,057,078 (GRCm39) |
N79S |
not run |
Het |
| Vdac3 |
C |
A |
8: 23,069,073 (GRCm39) |
G214C |
probably damaging |
Het |
| Vmn2r18 |
A |
C |
5: 151,485,329 (GRCm39) |
F722V |
probably damaging |
Het |
| Vmn2r45 |
A |
G |
7: 8,486,409 (GRCm39) |
L293S |
possibly damaging |
Het |
| Vmn2r88 |
C |
G |
14: 51,650,503 (GRCm39) |
A72G |
probably benign |
Het |
| Xpot |
A |
G |
10: 121,454,996 (GRCm39) |
|
probably null |
Het |
| Zfp526 |
G |
A |
7: 24,920,860 (GRCm39) |
|
probably benign |
Het |
| Zfp532 |
A |
G |
18: 65,756,561 (GRCm39) |
T165A |
probably benign |
Het |
|
| Other mutations in Arid3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00432:Arid3b
|
APN |
9 |
57,741,207 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCAAAGTCCCTGACACAG -3'
(R):5'- AACTACAGGCAGCCATCGATG -3'
Sequencing Primer
(F):5'- TGACACAGCCAGGCGATTTG -3'
(R):5'- CCATCGATGGCAACCGTAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation