Incidental Mutation 'R5725:Arid5a'
| ID |
452412 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arid5a
|
| Ensembl Gene |
ENSMUSG00000037447 |
| Gene Name |
AT-rich interaction domain 5A |
| Synonyms |
D430024K22Rik, Mrf1 |
| MMRRC Submission |
043343-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
R5725 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
36346814-36363110 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 36358211 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 176
(E176*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097778]
[ENSMUST00000115029]
[ENSMUST00000115031]
[ENSMUST00000115032]
[ENSMUST00000116629]
[ENSMUST00000126413]
[ENSMUST00000137906]
[ENSMUST00000142319]
|
| AlphaFold |
Q3U108 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000097778
AA Change: E263*
|
| SMART Domains |
Protein: ENSMUSP00000095385
Gene: ENSMUSG00000037447
AA Change: E263*
| 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 null
Transcript: ENSMUST00000115029
AA Change: E75*
|
| SMART Domains |
Protein: ENSMUSP00000110681
Gene: ENSMUSG00000037447
AA Change: E75*
| 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 null
Transcript: ENSMUST00000115031
AA Change: E328*
|
| SMART Domains |
Protein: ENSMUSP00000110683
Gene: ENSMUSG00000037447
AA Change: E328*
| 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 null
Transcript: ENSMUST00000115032
AA Change: E234*
|
| SMART Domains |
Protein: ENSMUSP00000110684
Gene: ENSMUSG00000037447
AA Change: E234*
| 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 null
Transcript: ENSMUST00000126413
AA Change: E233*
|
| SMART Domains |
Protein: ENSMUSP00000115490
Gene: ENSMUSG00000037447
AA Change: E233*
| Domain | Start | End | E-Value | Type |
|---|
|
ARID
|
46 |
137 |
4.69e-34 |
SMART |
|
BRIGHT
|
50 |
142 |
8.63e-31 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000137906
AA Change: E176*
|
| SMART Domains |
Protein: ENSMUSP00000117810
Gene: ENSMUSG00000037447
AA Change: E176*
| 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: ENSMUST00000145179
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147123
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150747
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140218
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141121
|
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| 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 |
|---|
| 2700049A03Rik |
G |
A |
12: 71,240,093 (GRCm39) |
R1301H |
probably benign |
Het |
| 6030468B19Rik |
G |
T |
11: 117,696,883 (GRCm39) |
S201I |
probably damaging |
Het |
| Abca13 |
G |
A |
11: 9,527,181 (GRCm39) |
M4531I |
probably benign |
Het |
| Abca2 |
A |
G |
2: 25,329,412 (GRCm39) |
M1058V |
probably damaging |
Het |
| Agrn |
T |
A |
4: 156,258,332 (GRCm39) |
T938S |
probably benign |
Het |
| Aloxe3 |
A |
T |
11: 69,019,480 (GRCm39) |
D131V |
probably null |
Het |
| Angptl7 |
C |
A |
4: 148,580,965 (GRCm39) |
A277S |
possibly damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,454,731 (GRCm39) |
M244T |
probably damaging |
Het |
| Aplp2 |
T |
C |
9: 31,069,110 (GRCm39) |
D573G |
probably damaging |
Het |
| Atp8b4 |
A |
T |
2: 126,275,856 (GRCm39) |
N125K |
probably benign |
Het |
| Auts2 |
A |
G |
5: 131,468,584 (GRCm39) |
V911A |
probably benign |
Het |
| Bahcc1 |
G |
A |
11: 120,165,714 (GRCm39) |
R990H |
probably benign |
Het |
| Cd84 |
T |
C |
1: 171,700,928 (GRCm39) |
F230L |
probably benign |
Het |
| Dtnb |
T |
A |
12: 3,823,566 (GRCm39) |
L584H |
probably damaging |
Het |
| Dync2h1 |
A |
C |
9: 7,169,528 (GRCm39) |
S316R |
probably benign |
Het |
| Eif3m |
A |
G |
2: 104,844,186 (GRCm39) |
I73T |
probably damaging |
Het |
| Emilin3 |
A |
T |
2: 160,750,410 (GRCm39) |
C399* |
probably null |
Het |
| Fam118a |
A |
G |
15: 84,929,822 (GRCm39) |
K17E |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 38,943,774 (GRCm39) |
N889S |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,273,827 (GRCm39) |
|
probably null |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Igsf21 |
T |
C |
4: 139,762,054 (GRCm39) |
D208G |
probably benign |
Het |
| Itgax |
A |
G |
7: 127,747,033 (GRCm39) |
T945A |
possibly damaging |
Het |
| Itsn2 |
T |
A |
12: 4,680,767 (GRCm39) |
|
probably benign |
Het |
| Kcna4 |
A |
G |
2: 107,127,221 (GRCm39) |
T652A |
possibly damaging |
Het |
| Kir3dl1 |
G |
A |
X: 135,427,231 (GRCm39) |
D56N |
probably damaging |
Het |
| Lrp4 |
A |
G |
2: 91,325,240 (GRCm39) |
Y1355C |
probably damaging |
Het |
| Mmp9 |
C |
A |
2: 164,791,256 (GRCm39) |
A142E |
possibly damaging |
Het |
| Mpeg1 |
T |
C |
19: 12,440,000 (GRCm39) |
V486A |
probably benign |
Het |
| Mrgprb3 |
A |
T |
7: 48,293,548 (GRCm39) |
M1K |
probably null |
Het |
| Mrtfb |
A |
T |
16: 13,202,174 (GRCm39) |
K146* |
probably null |
Het |
| Nacad |
T |
C |
11: 6,551,643 (GRCm39) |
E516G |
probably benign |
Het |
| Or5k15 |
G |
A |
16: 58,710,250 (GRCm39) |
T111I |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pappa |
T |
A |
4: 65,107,647 (GRCm39) |
V686E |
probably damaging |
Het |
| Polr3a |
A |
T |
14: 24,515,455 (GRCm39) |
|
probably null |
Het |
| Ppp1r3a |
A |
G |
6: 14,719,348 (GRCm39) |
V522A |
probably benign |
Het |
| Rab6b |
T |
A |
9: 103,041,061 (GRCm39) |
F152I |
probably damaging |
Het |
| Sacs |
G |
A |
14: 61,448,559 (GRCm39) |
R3535Q |
probably damaging |
Het |
| Septin14 |
T |
C |
5: 129,766,630 (GRCm39) |
D317G |
probably damaging |
Het |
| Sin3b |
T |
C |
8: 73,452,320 (GRCm39) |
|
probably null |
Het |
| Sis |
G |
A |
3: 72,872,931 (GRCm39) |
P69L |
probably damaging |
Het |
| Slc12a3 |
G |
T |
8: 95,057,074 (GRCm39) |
V116L |
probably benign |
Het |
| Slc16a12 |
A |
T |
19: 34,652,227 (GRCm39) |
F306L |
probably damaging |
Het |
| Slc39a12 |
T |
C |
2: 14,394,075 (GRCm39) |
|
probably benign |
Het |
| Smg6 |
A |
G |
11: 74,821,439 (GRCm39) |
Q570R |
probably benign |
Het |
| Sptb |
G |
A |
12: 76,669,888 (GRCm39) |
A480V |
probably benign |
Het |
| Srsf4 |
C |
A |
4: 131,628,262 (GRCm39) |
|
probably benign |
Het |
| Topors |
T |
C |
4: 40,261,952 (GRCm39) |
D444G |
probably damaging |
Het |
| Trav19 |
A |
C |
14: 54,082,999 (GRCm39) |
T25P |
possibly damaging |
Het |
| Trim3 |
A |
G |
7: 105,266,947 (GRCm39) |
|
probably null |
Het |
| Ugt2a2 |
T |
C |
5: 87,622,755 (GRCm39) |
N281S |
probably damaging |
Het |
| Vmn1r12 |
A |
G |
6: 57,136,694 (GRCm39) |
I264V |
probably benign |
Het |
| Vmn2r94 |
T |
A |
17: 18,476,489 (GRCm39) |
I403F |
possibly damaging |
Het |
| Zzef1 |
G |
A |
11: 72,746,308 (GRCm39) |
R870Q |
possibly 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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATGCATAATCTTGTACCCCACC -3'
(R):5'- TGTTCAGAGTTCTCAGCCG -3'
Sequencing Primer
(F):5'- TGCATAATCTTGTACCCCACCCTAAG -3'
(R):5'- CCCTCTTAGGTTCTGGGGAC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation