Incidental Mutation 'R6114:Arid5b'
| ID |
485030 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arid5b
|
| Ensembl Gene |
ENSMUSG00000019947 |
| Gene Name |
AT-rich interaction domain 5B |
| Synonyms |
Mrf2alpha, Mrf2beta, Mrf2, 5430435G07Rik, Desrt |
| MMRRC Submission |
044263-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.941)
|
| Stock # |
R6114 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
67928350-68114570 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67933574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 776
(D776G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020106]
[ENSMUST00000218532]
[ENSMUST00000219238]
|
| AlphaFold |
Q8BM75 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020106
|
| SMART Domains |
Protein: ENSMUSP00000020106
Gene: ENSMUSG00000019947
| Domain | Start | End | E-Value | Type |
|---|
|
ARID
|
316 |
407 |
8.29e-35 |
SMART |
|
BRIGHT
|
320 |
412 |
4.18e-38 |
SMART |
|
low complexity region
|
425 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
538 |
549 |
N/A |
INTRINSIC |
|
low complexity region
|
695 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
730 |
741 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218532
AA Change: D533G
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219238
AA Change: D776G
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
94% (60/64) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the AT-rich interaction domain (ARID) family of DNA binding proteins. The encoded protein forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regulates the transcription of target genes involved in adipogenesis and liver development. This gene also plays a role in cell growth and differentiation of B-lymphocyte progenitors, and single nucleotide polymorphisms in this gene are associated with acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene experience a high level of mortality perinatally or earlier. Growth rates are low and mice remain small throughout live. There are abnormalities in various organ systems as well as the reproductive system. Fertility is reduced. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(212) : Targeted, knock-out(2) Gene trapped(210) |
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
C |
A |
14: 68,809,252 (GRCm39) |
V237L |
probably benign |
Het |
| Aff1 |
T |
C |
5: 103,990,163 (GRCm39) |
S878P |
probably damaging |
Het |
| Ahcy |
A |
C |
2: 154,904,079 (GRCm39) |
L386R |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,804,700 (GRCm39) |
N607D |
probably damaging |
Het |
| Art4 |
T |
A |
6: 136,834,211 (GRCm39) |
T11S |
unknown |
Het |
| Blm |
T |
C |
7: 80,163,235 (GRCm39) |
T39A |
probably damaging |
Het |
| Cabin1 |
T |
A |
10: 75,583,805 (GRCm39) |
M221L |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 118,573,101 (GRCm39) |
T1675A |
probably benign |
Het |
| Cacnb2 |
A |
T |
2: 14,980,012 (GRCm39) |
H285L |
possibly damaging |
Het |
| Cchcr1 |
A |
G |
17: 35,836,227 (GRCm39) |
E339G |
probably damaging |
Het |
| Cd14 |
A |
G |
18: 36,859,006 (GRCm39) |
W150R |
probably damaging |
Het |
| Cep162 |
A |
G |
9: 87,085,763 (GRCm39) |
I1187T |
probably benign |
Het |
| Cntnap4 |
A |
G |
8: 113,568,385 (GRCm39) |
H807R |
probably damaging |
Het |
| Copb1 |
T |
A |
7: 113,846,036 (GRCm39) |
H178L |
probably benign |
Het |
| Cpxm2 |
A |
G |
7: 131,756,035 (GRCm39) |
V103A |
probably benign |
Het |
| Egfr |
A |
G |
11: 16,854,374 (GRCm39) |
T849A |
possibly damaging |
Het |
| Endou |
T |
A |
15: 97,611,757 (GRCm39) |
K294* |
probably null |
Het |
| Hoxd9 |
A |
G |
2: 74,529,709 (GRCm39) |
N322D |
probably damaging |
Het |
| Hsph1 |
C |
A |
5: 149,550,852 (GRCm39) |
V416L |
possibly damaging |
Het |
| Igkv4-78 |
T |
A |
6: 69,036,743 (GRCm39) |
T97S |
possibly damaging |
Het |
| Itga10 |
G |
T |
3: 96,556,351 (GRCm39) |
C162F |
probably damaging |
Het |
| Lmod2 |
A |
G |
6: 24,603,691 (GRCm39) |
E222G |
probably damaging |
Het |
| Lpar5 |
A |
G |
6: 125,058,639 (GRCm39) |
N120S |
probably damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,508,617 (GRCm39) |
|
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,632,029 (GRCm39) |
I1318V |
probably benign |
Het |
| Lst1 |
T |
C |
17: 35,407,336 (GRCm39) |
T11A |
possibly damaging |
Het |
| Mfn1 |
C |
A |
3: 32,617,985 (GRCm39) |
A106D |
probably damaging |
Het |
| Ms4a12 |
G |
T |
19: 11,192,654 (GRCm39) |
N227K |
probably benign |
Het |
| Nr1h4 |
T |
A |
10: 89,314,678 (GRCm39) |
N273Y |
possibly damaging |
Het |
| Nrdc |
A |
T |
4: 108,901,782 (GRCm39) |
K617M |
probably damaging |
Het |
| Or10a3b |
A |
T |
7: 108,444,593 (GRCm39) |
M208K |
possibly damaging |
Het |
| Or1l8 |
A |
T |
2: 36,817,701 (GRCm39) |
C142S |
possibly damaging |
Het |
| Or6c202 |
T |
A |
10: 128,996,202 (GRCm39) |
H217L |
probably benign |
Het |
| Pcdhgc3 |
C |
G |
18: 37,940,925 (GRCm39) |
T442R |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,500,686 (GRCm39) |
N1468S |
probably damaging |
Het |
| Pde2a |
A |
T |
7: 101,160,319 (GRCm39) |
|
probably null |
Het |
| Pitx2 |
C |
G |
3: 128,998,062 (GRCm39) |
|
probably null |
Het |
| Reck |
T |
A |
4: 43,922,895 (GRCm39) |
I390N |
probably damaging |
Het |
| Rora |
A |
G |
9: 69,278,605 (GRCm39) |
N254S |
probably benign |
Het |
| Samd4b |
A |
G |
7: 28,222,217 (GRCm39) |
|
probably null |
Het |
| Scn8a |
A |
G |
15: 100,938,477 (GRCm39) |
T1949A |
probably damaging |
Het |
| Slc22a15 |
A |
T |
3: 101,768,168 (GRCm39) |
Y346* |
probably null |
Het |
| Slc24a5 |
A |
G |
2: 124,925,012 (GRCm39) |
T218A |
probably benign |
Het |
| Slc38a10 |
G |
A |
11: 120,020,138 (GRCm39) |
Q305* |
probably null |
Het |
| Slc45a4 |
G |
A |
15: 73,477,453 (GRCm39) |
P28S |
probably damaging |
Het |
| Smyd5 |
A |
T |
6: 85,417,244 (GRCm39) |
|
probably benign |
Het |
| Sox8 |
T |
C |
17: 25,786,494 (GRCm39) |
D403G |
probably damaging |
Het |
| Stx7 |
A |
G |
10: 24,060,883 (GRCm39) |
|
probably null |
Het |
| Svil |
T |
C |
18: 5,108,639 (GRCm39) |
S1522P |
probably damaging |
Het |
| Sycp2 |
G |
C |
2: 177,990,038 (GRCm39) |
R1403G |
probably benign |
Het |
| Tasor2 |
G |
A |
13: 3,640,081 (GRCm39) |
T352M |
probably damaging |
Het |
| Tcf25 |
A |
T |
8: 124,111,114 (GRCm39) |
K192M |
probably damaging |
Het |
| Tecpr1 |
C |
T |
5: 144,141,458 (GRCm39) |
G804S |
possibly damaging |
Het |
| Teddm1a |
C |
G |
1: 153,767,614 (GRCm39) |
S26C |
probably damaging |
Het |
| Usp13 |
C |
T |
3: 32,908,818 (GRCm39) |
P155S |
probably damaging |
Het |
| Usp17lb |
T |
A |
7: 104,489,571 (GRCm39) |
D451V |
possibly damaging |
Het |
| Vmn1r173 |
A |
G |
7: 23,402,254 (GRCm39) |
N163S |
possibly damaging |
Het |
| Vmn2r103 |
G |
T |
17: 20,032,587 (GRCm39) |
C787F |
probably damaging |
Het |
| Vmn2r106 |
G |
A |
17: 20,488,638 (GRCm39) |
P587L |
probably benign |
Het |
| Wdr24 |
C |
T |
17: 26,043,579 (GRCm39) |
H134Y |
probably benign |
Het |
| Zbtb40 |
T |
A |
4: 136,716,002 (GRCm39) |
I988F |
probably damaging |
Het |
| Zbtb47 |
T |
A |
9: 121,594,661 (GRCm39) |
F540Y |
probably damaging |
Het |
| Zfp536 |
A |
T |
7: 37,179,161 (GRCm39) |
I84N |
probably damaging |
Het |
|
| Other mutations in Arid5b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Arid5b
|
APN |
10 |
67,964,805 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01731:Arid5b
|
APN |
10 |
67,933,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02069:Arid5b
|
APN |
10 |
67,933,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02161:Arid5b
|
APN |
10 |
67,932,498 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02555:Arid5b
|
APN |
10 |
67,937,734 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02873:Arid5b
|
APN |
10 |
67,937,780 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03119:Arid5b
|
APN |
10 |
68,079,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03271:Arid5b
|
APN |
10 |
67,933,287 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
gobi
|
UTSW |
10 |
67,954,175 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
3-1:Arid5b
|
UTSW |
10 |
67,934,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4677001:Arid5b
|
UTSW |
10 |
67,933,841 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0108:Arid5b
|
UTSW |
10 |
68,114,559 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0525:Arid5b
|
UTSW |
10 |
67,933,676 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0533:Arid5b
|
UTSW |
10 |
68,021,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0646:Arid5b
|
UTSW |
10 |
67,932,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1066:Arid5b
|
UTSW |
10 |
67,934,186 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1487:Arid5b
|
UTSW |
10 |
67,933,044 (GRCm39) |
nonsense |
probably null |
|
|
R1638:Arid5b
|
UTSW |
10 |
68,113,777 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1789:Arid5b
|
UTSW |
10 |
68,021,897 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2031:Arid5b
|
UTSW |
10 |
68,114,518 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2337:Arid5b
|
UTSW |
10 |
67,933,607 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2996:Arid5b
|
UTSW |
10 |
67,934,292 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2997:Arid5b
|
UTSW |
10 |
67,934,292 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3547:Arid5b
|
UTSW |
10 |
67,934,292 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4411:Arid5b
|
UTSW |
10 |
67,932,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Arid5b
|
UTSW |
10 |
68,078,925 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4860:Arid5b
|
UTSW |
10 |
68,078,925 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5219:Arid5b
|
UTSW |
10 |
68,113,940 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5341:Arid5b
|
UTSW |
10 |
68,113,957 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5434:Arid5b
|
UTSW |
10 |
67,932,719 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5757:Arid5b
|
UTSW |
10 |
67,937,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6313:Arid5b
|
UTSW |
10 |
67,933,412 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6338:Arid5b
|
UTSW |
10 |
67,934,391 (GRCm39) |
nonsense |
probably null |
|
|
R6525:Arid5b
|
UTSW |
10 |
67,933,496 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6915:Arid5b
|
UTSW |
10 |
68,022,042 (GRCm39) |
nonsense |
probably null |
|
|
R7013:Arid5b
|
UTSW |
10 |
67,933,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7099:Arid5b
|
UTSW |
10 |
67,934,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7260:Arid5b
|
UTSW |
10 |
67,933,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7324:Arid5b
|
UTSW |
10 |
67,964,752 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7334:Arid5b
|
UTSW |
10 |
68,079,007 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7432:Arid5b
|
UTSW |
10 |
67,954,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7453:Arid5b
|
UTSW |
10 |
68,078,994 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7649:Arid5b
|
UTSW |
10 |
67,954,175 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7659:Arid5b
|
UTSW |
10 |
67,934,417 (GRCm39) |
missense |
probably benign |
|
|
R7661:Arid5b
|
UTSW |
10 |
67,934,417 (GRCm39) |
missense |
probably benign |
|
|
R7662:Arid5b
|
UTSW |
10 |
67,934,417 (GRCm39) |
missense |
probably benign |
|
|
R7663:Arid5b
|
UTSW |
10 |
67,934,417 (GRCm39) |
missense |
probably benign |
|
|
R7665:Arid5b
|
UTSW |
10 |
67,934,417 (GRCm39) |
missense |
probably benign |
|
|
R7666:Arid5b
|
UTSW |
10 |
67,934,417 (GRCm39) |
missense |
probably benign |
|
|
R7759:Arid5b
|
UTSW |
10 |
67,933,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7779:Arid5b
|
UTSW |
10 |
67,932,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7788:Arid5b
|
UTSW |
10 |
67,934,417 (GRCm39) |
missense |
probably benign |
|
|
R7789:Arid5b
|
UTSW |
10 |
67,934,417 (GRCm39) |
missense |
probably benign |
|
|
R7875:Arid5b
|
UTSW |
10 |
67,964,771 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8079:Arid5b
|
UTSW |
10 |
67,934,186 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8096:Arid5b
|
UTSW |
10 |
68,021,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8228:Arid5b
|
UTSW |
10 |
68,114,536 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8377:Arid5b
|
UTSW |
10 |
67,933,217 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8757:Arid5b
|
UTSW |
10 |
67,933,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8910:Arid5b
|
UTSW |
10 |
67,934,108 (GRCm39) |
missense |
|
|
|
R8954:Arid5b
|
UTSW |
10 |
67,937,810 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9234:Arid5b
|
UTSW |
10 |
67,964,628 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9272:Arid5b
|
UTSW |
10 |
67,937,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9430:Arid5b
|
UTSW |
10 |
68,022,087 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
X0066:Arid5b
|
UTSW |
10 |
67,954,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Arid5b
|
UTSW |
10 |
67,933,058 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATACTTGGAGGACTGTTCG -3'
(R):5'- AGCAGCTATCCCTATGGCTC -3'
Sequencing Primer
(F):5'- CCGGTAGAGGCTATGGAGATGC -3'
(R):5'- GCCCCCTTTGATCAGCAAAAAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation