Incidental Mutation 'PIT4504001:Arid5a'
| ID |
555987 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arid5a
|
| Ensembl Gene |
ENSMUSG00000037447 |
| Gene Name |
AT-rich interaction domain 5A |
| Synonyms |
D430024K22Rik, Mrf1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
PIT4504001 (G1)
|
| Quality Score |
184.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
36346814-36363110 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36356706 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 116
(I116T)
|
| 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 |
probably damaging
Transcript: ENSMUST00000097778
AA Change: I116T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095385
Gene: ENSMUSG00000037447
AA Change: I116T
| 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: I181T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110683
Gene: ENSMUSG00000037447
AA Change: I181T
| 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: I87T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110684
Gene: ENSMUSG00000037447
AA Change: I87T
| 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
AA Change: S47P
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000136037
Gene: ENSMUSG00000037447
AA Change: S47P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ARID
|
22 |
55 |
8e-11 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126413
AA Change: I86T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115490
Gene: ENSMUSG00000037447
AA Change: I86T
| 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: 92.8%
- 3x: 90.6%
- 10x: 84.7%
- 20x: 71.6%
|
| 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 |
|---|
| Abtb2 |
T |
A |
2: 103,547,537 (GRCm39) |
C970* |
probably null |
Het |
| Adgrv1 |
G |
A |
13: 81,707,471 (GRCm39) |
P1312S |
probably damaging |
Het |
| Bank1 |
C |
A |
3: 135,806,180 (GRCm39) |
D485Y |
probably damaging |
Het |
| Cbln3 |
C |
T |
14: 56,120,956 (GRCm39) |
V122M |
probably damaging |
Het |
| Cox10 |
C |
T |
11: 63,855,042 (GRCm39) |
C413Y |
possibly damaging |
Het |
| Ctsll3 |
T |
A |
13: 60,948,823 (GRCm39) |
D44V |
probably benign |
Het |
| Cuzd1 |
A |
T |
7: 130,911,529 (GRCm39) |
N483K |
possibly damaging |
Het |
| Dcaf4 |
G |
A |
12: 83,580,785 (GRCm39) |
|
probably null |
Het |
| Ddx60 |
A |
G |
8: 62,411,147 (GRCm39) |
T470A |
probably benign |
Het |
| Dennd1b |
T |
C |
1: 138,967,742 (GRCm39) |
V44A |
probably benign |
Het |
| Dusp16 |
C |
A |
6: 134,716,846 (GRCm39) |
V154F |
possibly damaging |
Het |
| Ect2 |
G |
A |
3: 27,181,097 (GRCm39) |
R586* |
probably null |
Het |
| Ermard |
T |
A |
17: 15,279,084 (GRCm39) |
C460* |
probably null |
Het |
| Fat2 |
C |
T |
11: 55,146,936 (GRCm39) |
G4020D |
possibly damaging |
Het |
| Flacc1 |
T |
A |
1: 58,698,258 (GRCm39) |
I348F |
probably benign |
Het |
| Galnt16 |
G |
T |
12: 80,639,191 (GRCm39) |
E402* |
probably null |
Het |
| Gm5414 |
T |
G |
15: 101,534,258 (GRCm39) |
D282A |
probably damaging |
Het |
| Gm6741 |
C |
T |
17: 91,544,344 (GRCm39) |
Q36* |
probably null |
Het |
| Gm7356 |
A |
T |
17: 14,221,720 (GRCm39) |
L103Q |
probably damaging |
Het |
| Hcn1 |
A |
G |
13: 118,112,411 (GRCm39) |
T792A |
possibly damaging |
Het |
| Hemgn |
T |
C |
4: 46,395,863 (GRCm39) |
N458D |
probably benign |
Het |
| Hesx1 |
C |
A |
14: 26,723,838 (GRCm39) |
D140E |
probably benign |
Het |
| Hjv |
A |
T |
3: 96,435,813 (GRCm39) |
D357V |
probably damaging |
Het |
| Hmgcr |
A |
G |
13: 96,799,605 (GRCm39) |
I163T |
possibly damaging |
Het |
| Igfbpl1 |
T |
C |
4: 45,813,469 (GRCm39) |
T249A |
possibly damaging |
Het |
| Il33 |
A |
T |
19: 29,930,139 (GRCm39) |
H78L |
probably benign |
Het |
| Inpp4b |
A |
T |
8: 82,768,564 (GRCm39) |
D691V |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,131,369 (GRCm39) |
N1945I |
probably damaging |
Het |
| Lnpep |
A |
G |
17: 17,799,289 (GRCm39) |
V122A |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,305,747 (GRCm39) |
D2938G |
probably damaging |
Het |
| Lrrc8c |
A |
T |
5: 105,756,403 (GRCm39) |
Y726F |
probably benign |
Het |
| Magi3 |
G |
T |
3: 103,922,842 (GRCm39) |
Q1292K |
probably benign |
Het |
| Mllt3 |
A |
C |
4: 87,692,324 (GRCm39) |
F546L |
probably damaging |
Het |
| Mrpl14 |
A |
G |
17: 46,009,147 (GRCm39) |
K82R |
probably benign |
Het |
| Noxred1 |
A |
G |
12: 87,271,653 (GRCm39) |
V172A |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 59,023,948 (GRCm39) |
I574N |
probably damaging |
Het |
| Or2n1b |
A |
G |
17: 38,460,060 (GRCm39) |
T194A |
probably benign |
Het |
| Or5k8 |
T |
A |
16: 58,644,671 (GRCm39) |
T134S |
probably benign |
Het |
| Osbpl11 |
T |
A |
16: 33,054,864 (GRCm39) |
V649D |
probably benign |
Het |
| Pdlim2 |
G |
T |
14: 70,403,579 (GRCm39) |
P278T |
probably benign |
Het |
| Pm20d2 |
A |
C |
4: 33,183,152 (GRCm39) |
L223V |
probably damaging |
Het |
| Pmpcb |
G |
T |
5: 21,948,388 (GRCm39) |
R223L |
probably damaging |
Het |
| Pole2 |
A |
T |
12: 69,256,759 (GRCm39) |
Y255* |
probably null |
Het |
| Rims1 |
T |
A |
1: 22,467,684 (GRCm39) |
I317L |
|
Het |
| Scnn1g |
C |
A |
7: 121,341,554 (GRCm39) |
H239N |
probably benign |
Het |
| Spag17 |
A |
G |
3: 100,010,426 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
A |
T |
8: 48,746,692 (GRCm39) |
F1038I |
probably damaging |
Het |
| Tshz2 |
T |
C |
2: 169,727,971 (GRCm39) |
F856L |
probably damaging |
Het |
| Ubtf |
A |
G |
11: 102,197,508 (GRCm39) |
S715P |
unknown |
Het |
| Usp13 |
A |
C |
3: 32,959,579 (GRCm39) |
S557R |
probably damaging |
Het |
| Usp19 |
T |
A |
9: 108,370,169 (GRCm39) |
S43T |
probably benign |
Het |
| Vmn2r7 |
A |
T |
3: 64,623,397 (GRCm39) |
Y308N |
probably benign |
Het |
| Zfp455 |
A |
G |
13: 67,346,685 (GRCm39) |
D32G |
probably damaging |
Het |
| Zfp512 |
T |
A |
5: 31,634,225 (GRCm39) |
|
probably null |
Het |
| Zfr |
A |
G |
15: 12,166,244 (GRCm39) |
E838G |
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 |
|
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 |
|
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'- ACCTGCTTAGGGATGCAAAG -3'
Sequencing Primer
(F):5'- ATGCCGCCAGCCTGTAG -3'
(R):5'- GTGCACAGTCCCCCATC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation