Incidental Mutation 'R9679:Arid5a'
| ID |
728394 |
| 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: 0.190)
|
| Stock # |
R9679 (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 36357648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 188
(K188E)
|
| 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: K188E
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000095385
Gene: ENSMUSG00000037447
AA Change: K188E
| 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: K253E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110683
Gene: ENSMUSG00000037447
AA Change: K253E
| 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: K159E
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110684
Gene: ENSMUSG00000037447
AA Change: K159E
| 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 |
probably benign
Transcript: ENSMUST00000116629
|
| SMART Domains |
Protein: ENSMUSP00000136037
Gene: ENSMUSG00000037447
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ARID
|
22 |
55 |
8e-11 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126413
AA Change: K158E
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000115490
Gene: ENSMUSG00000037447
AA Change: K158E
| Domain | Start | End | E-Value | Type |
|---|
|
ARID
|
46 |
137 |
4.69e-34 |
SMART |
|
BRIGHT
|
50 |
142 |
8.63e-31 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137906
AA Change: K101E
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000117810
Gene: ENSMUSG00000037447
AA Change: K101E
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
T |
A |
12: 113,509,542 (GRCm39) |
N638K |
probably benign |
Het |
| Atp11a |
T |
C |
8: 12,909,388 (GRCm39) |
I1082T |
possibly damaging |
Het |
| Bdp1 |
T |
A |
13: 100,180,285 (GRCm39) |
I1845F |
probably damaging |
Het |
| Ccdc87 |
A |
C |
19: 4,891,299 (GRCm39) |
E597A |
probably benign |
Het |
| Cfap53 |
A |
T |
18: 74,492,656 (GRCm39) |
Q460L |
possibly damaging |
Het |
| Clcn1 |
G |
A |
6: 42,263,753 (GRCm39) |
S18N |
probably damaging |
Het |
| Cntnap3 |
C |
A |
13: 64,899,562 (GRCm39) |
C977F |
probably damaging |
Het |
| Colec11 |
C |
A |
12: 28,644,829 (GRCm39) |
V222L |
probably benign |
Het |
| Dchs2 |
G |
T |
3: 83,261,697 (GRCm39) |
S2655I |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 31,037,115 (GRCm39) |
T4227A |
probably benign |
Het |
| Dock5 |
G |
A |
14: 68,018,450 (GRCm39) |
R1242W |
probably damaging |
Het |
| Ebf3 |
T |
A |
7: 136,832,964 (GRCm39) |
N237I |
possibly damaging |
Het |
| F2rl3 |
T |
A |
8: 73,489,661 (GRCm39) |
L296Q |
probably damaging |
Het |
| Fbn2 |
A |
G |
18: 58,201,433 (GRCm39) |
I1328T |
probably damaging |
Het |
| Fes |
T |
C |
7: 80,033,050 (GRCm39) |
E258G |
probably benign |
Het |
| Gins4 |
G |
A |
8: 23,717,132 (GRCm39) |
A212V |
probably damaging |
Het |
| Il15 |
T |
C |
8: 83,071,094 (GRCm39) |
Y7C |
probably benign |
Het |
| Il9r |
T |
G |
11: 32,140,853 (GRCm39) |
H395P |
probably benign |
Het |
| Jade1 |
T |
C |
3: 41,567,569 (GRCm39) |
S546P |
probably damaging |
Het |
| Krt72 |
C |
T |
15: 101,685,152 (GRCm39) |
G469D |
probably damaging |
Het |
| Limd1 |
T |
A |
9: 123,308,457 (GRCm39) |
M52K |
probably damaging |
Het |
| Mamdc2 |
T |
C |
19: 23,351,380 (GRCm39) |
N182S |
probably benign |
Het |
| Mrpl14 |
A |
G |
17: 46,009,240 (GRCm39) |
N113S |
probably damaging |
Het |
| Ms4a14 |
A |
G |
19: 11,280,048 (GRCm39) |
S837P |
possibly damaging |
Het |
| Mtrex |
A |
G |
13: 113,032,055 (GRCm39) |
S586P |
probably damaging |
Het |
| Muc21 |
A |
G |
17: 35,930,491 (GRCm39) |
S1232P |
unknown |
Het |
| Myh11 |
A |
T |
16: 14,095,436 (GRCm39) |
Y109N |
|
Het |
| Nfrkb |
C |
T |
9: 31,321,385 (GRCm39) |
T694M |
probably benign |
Het |
| Nlrp4b |
T |
G |
7: 10,449,184 (GRCm39) |
S462R |
probably benign |
Het |
| Or4k37 |
A |
G |
2: 111,159,345 (GRCm39) |
T194A |
probably benign |
Het |
| Or52e2 |
T |
C |
7: 102,804,652 (GRCm39) |
I101V |
probably benign |
Het |
| Or5g9 |
T |
A |
2: 85,552,482 (GRCm39) |
H244Q |
probably damaging |
Het |
| Or5h19 |
A |
G |
16: 58,856,521 (GRCm39) |
L193P |
possibly damaging |
Het |
| Or6c76 |
A |
G |
10: 129,611,882 (GRCm39) |
Y33C |
probably damaging |
Het |
| Rasip1 |
T |
C |
7: 45,277,327 (GRCm39) |
V45A |
possibly damaging |
Het |
| Rgs22 |
A |
G |
15: 36,087,587 (GRCm39) |
S568P |
probably benign |
Het |
| Sephs1 |
T |
A |
2: 4,898,105 (GRCm39) |
L172Q |
probably damaging |
Het |
| Slc16a3 |
T |
C |
11: 120,847,223 (GRCm39) |
L137P |
probably damaging |
Het |
| Slc22a4 |
T |
C |
11: 53,881,599 (GRCm39) |
Y373C |
probably damaging |
Het |
| Snx1 |
T |
C |
9: 65,998,002 (GRCm39) |
D410G |
probably benign |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Stam2 |
G |
T |
2: 52,606,582 (GRCm39) |
A101D |
probably damaging |
Het |
| Surf4 |
A |
G |
2: 26,814,364 (GRCm39) |
F179S |
probably benign |
Het |
| Taf8 |
C |
T |
17: 47,801,101 (GRCm39) |
R294Q |
unknown |
Het |
| Tnr |
A |
G |
1: 159,719,608 (GRCm39) |
T962A |
probably benign |
Het |
| Tpx2 |
T |
A |
2: 152,711,618 (GRCm39) |
I51K |
possibly damaging |
Het |
| Traf7 |
CA |
CAA |
17: 24,746,737 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,394,369 (GRCm39) |
Y2305N |
|
Het |
| Vil1 |
C |
A |
1: 74,469,833 (GRCm39) |
Q740K |
probably benign |
Het |
| Vmn1r236 |
T |
C |
17: 21,507,286 (GRCm39) |
F135L |
possibly damaging |
Het |
| Vmn1r57 |
A |
C |
7: 5,224,230 (GRCm39) |
I252L |
probably benign |
Het |
| Vmn2r77 |
T |
C |
7: 86,460,741 (GRCm39) |
L689P |
probably benign |
Het |
| Wdr1 |
A |
G |
5: 38,685,216 (GRCm39) |
L585P |
probably damaging |
Het |
| Wdr6 |
T |
C |
9: 108,450,358 (GRCm39) |
I1057V |
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 |
|
R9583:Arid5a
|
UTSW |
1 |
36,356,739 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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'- TGTGCACTGGGAGACAACAG -3'
(R):5'- TGAGCAGGTGTCAGCTGATC -3'
Sequencing Primer
(F):5'- CAACAGGGGTGCTGGTG -3'
(R):5'- AAAGTTCATCAGCTCCTGCCCTAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation