Incidental Mutation 'R9583:Arid5a'
| ID |
722632 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arid5a
|
| Ensembl Gene |
ENSMUSG00000037447 |
| Gene Name |
AT-rich interaction domain 5A |
| Synonyms |
D430024K22Rik, Mrf1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
R9583 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
36346814-36363110 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36356739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 127
(E127G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097778]
[ENSMUST00000115029]
[ENSMUST00000115031]
[ENSMUST00000115032]
[ENSMUST00000116629]
[ENSMUST00000126413]
[ENSMUST00000137906]
[ENSMUST00000142319]
|
| AlphaFold |
Q3U108 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097778
AA Change: E127G
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000095385
Gene: ENSMUSG00000037447
AA Change: E127G
| Domain | Start | End | E-Value | Type |
|---|
|
ARID
|
76 |
167 |
4.69e-34 |
SMART |
|
BRIGHT
|
80 |
172 |
8.63e-31 |
SMART |
|
low complexity region
|
453 |
467 |
N/A |
INTRINSIC |
|
low complexity region
|
512 |
522 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115029
|
| SMART Domains |
Protein: ENSMUSP00000110681
Gene: ENSMUSG00000037447
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ARID
|
1 |
85 |
6e-24 |
BLAST |
|
low complexity region
|
265 |
279 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
334 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115031
AA Change: E192G
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110683
Gene: ENSMUSG00000037447
AA Change: E192G
| Domain | Start | End | E-Value | Type |
|---|
|
ARID
|
46 |
232 |
1.82e-31 |
SMART |
|
Blast:ARID
|
281 |
338 |
6e-11 |
BLAST |
|
low complexity region
|
518 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
577 |
587 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115032
AA Change: E98G
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110684
Gene: ENSMUSG00000037447
AA Change: E98G
| Domain | Start | End | E-Value | Type |
|---|
|
ARID
|
47 |
138 |
4.69e-34 |
SMART |
|
BRIGHT
|
51 |
143 |
8.63e-31 |
SMART |
|
low complexity region
|
424 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
483 |
493 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000116629
AA Change: S58G
|
| SMART Domains |
Protein: ENSMUSP00000136037
Gene: ENSMUSG00000037447
AA Change: S58G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ARID
|
22 |
55 |
8e-11 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126413
AA Change: E97G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000115490
Gene: ENSMUSG00000037447
AA Change: E97G
| Domain | Start | End | E-Value | Type |
|---|
|
ARID
|
46 |
137 |
4.69e-34 |
SMART |
|
BRIGHT
|
50 |
142 |
8.63e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137906
|
| SMART Domains |
Protein: ENSMUSP00000117810
Gene: ENSMUSG00000037447
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ig6a_
|
41 |
98 |
7e-19 |
SMART |
|
PDB:2OEH|A
|
42 |
98 |
2e-26 |
PDB |
|
Blast:ARID
|
42 |
186 |
4e-50 |
BLAST |
|
low complexity region
|
366 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
435 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142319
|
| SMART Domains |
Protein: ENSMUSP00000119953
Gene: ENSMUSG00000037447
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1kkxa_
|
49 |
81 |
3e-9 |
SMART |
|
Blast:ARID
|
56 |
121 |
2e-41 |
BLAST |
|
PDB:2OEH|A
|
56 |
121 |
2e-9 |
PDB |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the ARID protein family, including ARID5A, have diverse functions but all appear to play important roles in development, tissue-specific gene expression, and regulation of cell growth (Patsialou et al., 2005 [PubMed 15640446]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced serum interleukin-6 and tumor necrosis factor levels following LPS treatment, and decreased susceptibility to experimental autoimmune encephalomyelitis along with decreased T-helper 17 cell number and increased IFN-gamma producing T cell number. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
A |
T |
10: 28,862,092 (GRCm39) |
I66N |
probably damaging |
Het |
| Adgrg3 |
A |
T |
8: 95,760,071 (GRCm39) |
I97F |
probably benign |
Het |
| AI987944 |
T |
A |
7: 41,023,937 (GRCm39) |
R350S |
probably benign |
Het |
| Arap3 |
T |
C |
18: 38,109,096 (GRCm39) |
T1214A |
probably damaging |
Het |
| Bbx |
T |
C |
16: 50,044,920 (GRCm39) |
E547G |
possibly damaging |
Het |
| Ceacam16 |
T |
C |
7: 19,587,803 (GRCm39) |
I322V |
probably damaging |
Het |
| Chd2 |
G |
T |
7: 73,130,230 (GRCm39) |
N808K |
probably damaging |
Het |
| Copg2 |
A |
C |
6: 30,787,399 (GRCm39) |
L615* |
probably null |
Het |
| Cyp21a1 |
A |
G |
17: 35,022,017 (GRCm39) |
L221P |
probably damaging |
Het |
| Dnah9 |
C |
A |
11: 65,856,507 (GRCm39) |
V2885L |
probably damaging |
Het |
| Dnajb13 |
A |
G |
7: 100,152,446 (GRCm39) |
L290P |
probably damaging |
Het |
| Eif3e |
A |
G |
15: 43,128,957 (GRCm39) |
V221A |
probably damaging |
Het |
| Evc |
G |
A |
5: 37,473,701 (GRCm39) |
R511* |
probably null |
Het |
| Far2 |
C |
T |
6: 148,059,434 (GRCm39) |
P250S |
probably damaging |
Het |
| Fmo1 |
T |
A |
1: 162,686,996 (GRCm39) |
T44S |
|
Het |
| Grid1 |
A |
G |
14: 35,302,492 (GRCm39) |
E919G |
possibly damaging |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Hoxb2 |
A |
G |
11: 96,242,725 (GRCm39) |
E30G |
probably damaging |
Het |
| Il5ra |
G |
A |
6: 106,689,331 (GRCm39) |
P75L |
unknown |
Het |
| Il5ra |
T |
A |
6: 106,721,297 (GRCm39) |
M1L |
possibly damaging |
Het |
| Inpp4b |
T |
C |
8: 82,497,555 (GRCm39) |
|
probably null |
Het |
| Itgb8 |
T |
A |
12: 119,153,708 (GRCm39) |
H269L |
possibly damaging |
Het |
| Jrk |
G |
A |
15: 74,578,403 (GRCm39) |
A294V |
probably damaging |
Het |
| Knl1 |
A |
T |
2: 118,887,782 (GRCm39) |
D2V |
probably damaging |
Het |
| Lrrc71 |
T |
C |
3: 87,650,258 (GRCm39) |
I272V |
possibly damaging |
Het |
| Mdn1 |
T |
C |
4: 32,741,372 (GRCm39) |
S3825P |
probably damaging |
Het |
| Mex3d |
C |
A |
10: 80,218,129 (GRCm39) |
V363L |
|
Het |
| Mfsd13b |
C |
A |
7: 120,598,134 (GRCm39) |
H347N |
possibly damaging |
Het |
| Mllt1 |
G |
T |
17: 57,209,572 (GRCm39) |
H179Q |
probably benign |
Het |
| Mmp14 |
A |
T |
14: 54,678,069 (GRCm39) |
R563S |
probably benign |
Het |
| Ms4a18 |
T |
C |
19: 10,974,714 (GRCm39) |
T326A |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,549,973 (GRCm39) |
D5440G |
probably benign |
Het |
| Muc2 |
A |
T |
7: 141,300,559 (GRCm39) |
E294V |
|
Het |
| Myh7b |
A |
G |
2: 155,459,641 (GRCm39) |
N241S |
probably damaging |
Het |
| Myo1b |
T |
C |
1: 51,796,404 (GRCm39) |
I1007V |
possibly damaging |
Het |
| Or10j5 |
T |
C |
1: 172,784,893 (GRCm39) |
F177S |
probably damaging |
Het |
| Or4a77 |
A |
G |
2: 89,487,005 (GRCm39) |
V260A |
possibly damaging |
Het |
| Or8g33 |
T |
A |
9: 39,337,851 (GRCm39) |
D172V |
possibly damaging |
Het |
| Pan2 |
T |
C |
10: 128,140,135 (GRCm39) |
S19P |
probably benign |
Het |
| Pkn3 |
A |
G |
2: 29,976,723 (GRCm39) |
D588G |
probably null |
Het |
| Pkp4 |
A |
G |
2: 59,178,104 (GRCm39) |
N988D |
possibly damaging |
Het |
| Plxdc1 |
T |
C |
11: 97,824,844 (GRCm39) |
D344G |
probably damaging |
Het |
| Plxna4 |
C |
T |
6: 32,192,169 (GRCm39) |
R807H |
possibly damaging |
Het |
| Potefam3b |
T |
A |
8: 21,174,962 (GRCm39) |
F285I |
possibly damaging |
Het |
| Prdm15 |
A |
T |
16: 97,623,142 (GRCm39) |
S237T |
probably benign |
Het |
| Sanbr |
A |
C |
11: 23,531,642 (GRCm39) |
M661R |
possibly damaging |
Het |
| Slc9a2 |
G |
A |
1: 40,721,061 (GRCm39) |
V10M |
probably benign |
Het |
| Sytl2 |
T |
C |
7: 90,024,800 (GRCm39) |
S263P |
probably benign |
Het |
| Taf7l2 |
A |
T |
10: 115,948,931 (GRCm39) |
D198E |
probably benign |
Het |
| Trrap |
G |
A |
5: 144,777,330 (GRCm39) |
V3043M |
probably damaging |
Het |
| Tshz3 |
C |
T |
7: 36,470,492 (GRCm39) |
T827I |
possibly damaging |
Het |
| Ttll1 |
T |
C |
15: 83,384,226 (GRCm39) |
T134A |
possibly damaging |
Het |
| Vmn1r196 |
G |
T |
13: 22,477,920 (GRCm39) |
M186I |
probably damaging |
Het |
| Vrk2 |
C |
T |
11: 26,433,157 (GRCm39) |
|
probably null |
Het |
| Zfp59 |
T |
A |
7: 27,554,483 (GRCm39) |
V645E |
probably benign |
Het |
|
| Other mutations in Arid5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01432:Arid5a
|
APN |
1 |
36,358,514 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL02000:Arid5a
|
APN |
1 |
36,358,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02322:Arid5a
|
APN |
1 |
36,358,497 (GRCm39) |
missense |
probably benign |
0.09 |
|
PIT4504001:Arid5a
|
UTSW |
1 |
36,356,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0063:Arid5a
|
UTSW |
1 |
36,357,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0063:Arid5a
|
UTSW |
1 |
36,357,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1556:Arid5a
|
UTSW |
1 |
36,359,245 (GRCm39) |
nonsense |
probably null |
|
|
R1703:Arid5a
|
UTSW |
1 |
36,358,656 (GRCm39) |
splice site |
probably null |
|
|
R2424:Arid5a
|
UTSW |
1 |
36,357,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4583:Arid5a
|
UTSW |
1 |
36,356,745 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5725:Arid5a
|
UTSW |
1 |
36,358,211 (GRCm39) |
nonsense |
probably null |
|
|
R6056:Arid5a
|
UTSW |
1 |
36,358,473 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7023:Arid5a
|
UTSW |
1 |
36,356,631 (GRCm39) |
unclassified |
probably benign |
|
|
R7996:Arid5a
|
UTSW |
1 |
36,356,526 (GRCm39) |
missense |
unknown |
|
|
R8739:Arid5a
|
UTSW |
1 |
36,358,677 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9072:Arid5a
|
UTSW |
1 |
36,358,626 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9073:Arid5a
|
UTSW |
1 |
36,358,626 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9398:Arid5a
|
UTSW |
1 |
36,358,073 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9679:Arid5a
|
UTSW |
1 |
36,357,648 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
X0020:Arid5a
|
UTSW |
1 |
36,358,656 (GRCm39) |
splice site |
probably null |
|
|
Z1176:Arid5a
|
UTSW |
1 |
36,358,436 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTAAAGGTGACCCTGGATGC -3'
(R):5'- CTGCTTAGGGATGCAAAGTGC -3'
Sequencing Primer
(F):5'- TGTGAGGACGGTGCCTC -3'
(R):5'- GTGCACAGTCCCCCATC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation