Incidental Mutation 'R0063:Arid5a'
ID |
18078 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arid5a
|
Ensembl Gene |
ENSMUSG00000037447 |
Gene Name |
AT-rich interaction domain 5A |
Synonyms |
D430024K22Rik, Mrf1 |
MMRRC Submission |
038355-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.226)
|
Stock # |
R0063 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
36346814-36363110 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 36357645 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 252
(Y252N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110683
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097778]
[ENSMUST00000115029]
[ENSMUST00000115031]
[ENSMUST00000115032]
[ENSMUST00000116629]
[ENSMUST00000126413]
[ENSMUST00000137906]
[ENSMUST00000142319]
|
AlphaFold |
Q3U108 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097778
AA Change: Y187N
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000095385 Gene: ENSMUSG00000037447 AA Change: Y187N
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: Y252N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110683 Gene: ENSMUSG00000037447 AA Change: Y252N
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 |
probably damaging
Transcript: ENSMUST00000115032
AA Change: Y158N
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000110684 Gene: ENSMUSG00000037447 AA Change: Y158N
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 |
noncoding transcript
Transcript: ENSMUST00000124280
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000126413
AA Change: Y157N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000115490 Gene: ENSMUSG00000037447 AA Change: Y157N
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: Y100N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000117810 Gene: ENSMUSG00000037447 AA Change: Y100N
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 |
noncoding transcript
Transcript: ENSMUST00000140218
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141121
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147123
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150747
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145179
|
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 |
|
Meta Mutation Damage Score |
0.0628 |
Coding Region Coverage |
- 1x: 89.1%
- 3x: 86.1%
- 10x: 78.0%
- 20x: 64.7%
|
Validation Efficiency |
99% (86/87) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
C |
T |
16: 4,678,912 (GRCm39) |
R245* |
probably null |
Het |
4930563I02Rik |
T |
A |
14: 60,333,477 (GRCm39) |
|
probably benign |
Het |
Acss1 |
T |
C |
2: 150,469,212 (GRCm39) |
T435A |
probably damaging |
Het |
Aoc2 |
T |
A |
11: 101,216,897 (GRCm39) |
S327T |
probably damaging |
Het |
AU040320 |
T |
C |
4: 126,733,465 (GRCm39) |
Y662H |
probably damaging |
Het |
Bcam |
C |
T |
7: 19,500,773 (GRCm39) |
V134I |
probably benign |
Het |
Btbd16 |
A |
T |
7: 130,424,896 (GRCm39) |
T426S |
probably benign |
Het |
Cap2 |
T |
C |
13: 46,791,508 (GRCm39) |
|
probably benign |
Het |
Capn8 |
T |
A |
1: 182,429,677 (GRCm39) |
D299E |
probably damaging |
Het |
Cdipt |
G |
A |
7: 126,578,772 (GRCm39) |
V160I |
probably benign |
Het |
Cyb5r3 |
T |
C |
15: 83,046,137 (GRCm39) |
T60A |
probably benign |
Het |
Dazl |
T |
C |
17: 152,705,859 (NCBIm37) |
T212A |
probably damaging |
Het |
Dgkb |
T |
G |
12: 38,654,112 (GRCm39) |
S744A |
probably benign |
Het |
Dock2 |
T |
A |
11: 34,647,111 (GRCm39) |
|
probably null |
Het |
Ece2 |
A |
G |
16: 20,461,067 (GRCm39) |
T442A |
probably benign |
Het |
Elapor2 |
T |
C |
5: 9,490,709 (GRCm39) |
|
probably benign |
Het |
Emid1 |
A |
T |
11: 5,139,704 (GRCm38) |
|
probably benign |
Het |
Eml3 |
C |
A |
19: 8,915,842 (GRCm39) |
A644D |
probably damaging |
Het |
Foxp1 |
A |
G |
6: 98,921,684 (GRCm39) |
|
probably benign |
Het |
Ints8 |
T |
C |
4: 11,252,857 (GRCm39) |
N75S |
probably damaging |
Het |
Irs1 |
T |
A |
1: 82,266,580 (GRCm39) |
E545D |
probably damaging |
Het |
Lama3 |
T |
C |
18: 12,661,762 (GRCm39) |
|
probably benign |
Het |
Nat8f2 |
A |
T |
6: 85,844,815 (GRCm39) |
S182R |
possibly damaging |
Het |
Nrcam |
G |
T |
12: 44,596,811 (GRCm39) |
V343F |
possibly damaging |
Het |
Pdk2 |
T |
C |
11: 94,923,306 (GRCm39) |
H106R |
probably benign |
Het |
Pkhd1 |
G |
A |
1: 20,282,174 (GRCm39) |
T2889I |
probably benign |
Het |
Pkhd1l1 |
T |
A |
15: 44,392,633 (GRCm39) |
L1656H |
probably damaging |
Het |
Plxna2 |
A |
T |
1: 194,327,247 (GRCm39) |
T394S |
probably benign |
Het |
Pnpla8 |
T |
A |
12: 44,329,615 (GRCm39) |
C56S |
probably damaging |
Het |
Prdm8 |
G |
T |
5: 98,332,453 (GRCm39) |
R118L |
probably damaging |
Het |
Prkce |
T |
C |
17: 86,789,539 (GRCm39) |
|
probably benign |
Het |
Ptprk |
T |
A |
10: 28,139,763 (GRCm39) |
Y163N |
probably damaging |
Het |
Rbbp8 |
T |
A |
18: 11,867,614 (GRCm39) |
|
probably benign |
Het |
Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
Slc2a2 |
T |
C |
3: 28,771,589 (GRCm39) |
M173T |
probably damaging |
Het |
Slc2a8 |
T |
A |
2: 32,870,011 (GRCm39) |
|
probably null |
Het |
Tmem131 |
C |
T |
1: 36,858,209 (GRCm39) |
V713I |
probably benign |
Het |
Tmem89 |
A |
G |
9: 108,743,880 (GRCm39) |
N60S |
probably benign |
Het |
Trio |
G |
T |
15: 27,881,523 (GRCm39) |
|
probably benign |
Het |
Tulp2 |
T |
C |
7: 45,170,284 (GRCm39) |
|
probably benign |
Het |
Uggt2 |
A |
G |
14: 119,244,542 (GRCm39) |
|
probably benign |
Het |
Vwa8 |
A |
G |
14: 79,401,656 (GRCm39) |
|
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,339,427 (GRCm39) |
D556G |
probably damaging |
Het |
Xrn1 |
T |
C |
9: 95,851,588 (GRCm39) |
L202P |
probably damaging |
Het |
Zfp354a |
A |
T |
11: 50,960,398 (GRCm39) |
H203L |
probably damaging |
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 |
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 |
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 |
|
|
Posted On |
2013-03-25 |