Incidental Mutation 'R5951:Arid4b'
ID |
470909 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arid4b
|
Ensembl Gene |
ENSMUSG00000039219 |
Gene Name |
AT-rich interaction domain 4B |
Synonyms |
6330417L24Rik, Rbp1l1, 6720480E17Rik, BRCAA1, SAP180, RBBP1L1 |
MMRRC Submission |
044141-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5951 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
14238334-14374188 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 14317648 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 177
(V177A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118687
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039538]
[ENSMUST00000110533]
[ENSMUST00000110534]
[ENSMUST00000110536]
[ENSMUST00000129488]
[ENSMUST00000222928]
|
AlphaFold |
A2CG63 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039538
AA Change: V177A
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000043889 Gene: ENSMUSG00000039219 AA Change: V177A
Domain | Start | End | E-Value | Type |
TUDOR
|
58 |
114 |
4.13e-9 |
SMART |
low complexity region
|
151 |
165 |
N/A |
INTRINSIC |
Pfam:RBB1NT
|
166 |
264 |
3.4e-46 |
PFAM |
ARID
|
303 |
394 |
3.81e-34 |
SMART |
BRIGHT
|
307 |
399 |
4.99e-36 |
SMART |
low complexity region
|
421 |
441 |
N/A |
INTRINSIC |
low complexity region
|
543 |
562 |
N/A |
INTRINSIC |
low complexity region
|
621 |
635 |
N/A |
INTRINSIC |
low complexity region
|
704 |
713 |
N/A |
INTRINSIC |
low complexity region
|
715 |
728 |
N/A |
INTRINSIC |
low complexity region
|
769 |
785 |
N/A |
INTRINSIC |
low complexity region
|
937 |
949 |
N/A |
INTRINSIC |
low complexity region
|
954 |
964 |
N/A |
INTRINSIC |
low complexity region
|
1002 |
1016 |
N/A |
INTRINSIC |
low complexity region
|
1054 |
1068 |
N/A |
INTRINSIC |
coiled coil region
|
1145 |
1182 |
N/A |
INTRINSIC |
low complexity region
|
1186 |
1204 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110533
AA Change: V177A
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000106162 Gene: ENSMUSG00000039219 AA Change: V177A
Domain | Start | End | E-Value | Type |
TUDOR
|
58 |
114 |
4.13e-9 |
SMART |
low complexity region
|
151 |
165 |
N/A |
INTRINSIC |
Pfam:RBB1NT
|
166 |
264 |
9.5e-48 |
PFAM |
ARID
|
303 |
394 |
3.81e-34 |
SMART |
BRIGHT
|
307 |
399 |
4.99e-36 |
SMART |
low complexity region
|
421 |
441 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110534
AA Change: V177A
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000106163 Gene: ENSMUSG00000039219 AA Change: V177A
Domain | Start | End | E-Value | Type |
TUDOR
|
58 |
114 |
4.13e-9 |
SMART |
low complexity region
|
151 |
165 |
N/A |
INTRINSIC |
Pfam:RBB1NT
|
168 |
263 |
4.1e-39 |
PFAM |
ARID
|
303 |
394 |
3.81e-34 |
SMART |
BRIGHT
|
307 |
399 |
4.99e-36 |
SMART |
low complexity region
|
421 |
441 |
N/A |
INTRINSIC |
TUDOR
|
567 |
632 |
1.91e1 |
SMART |
CHROMO
|
585 |
640 |
1.29e-1 |
SMART |
low complexity region
|
708 |
722 |
N/A |
INTRINSIC |
low complexity region
|
791 |
800 |
N/A |
INTRINSIC |
low complexity region
|
802 |
815 |
N/A |
INTRINSIC |
low complexity region
|
856 |
872 |
N/A |
INTRINSIC |
low complexity region
|
1024 |
1036 |
N/A |
INTRINSIC |
low complexity region
|
1041 |
1051 |
N/A |
INTRINSIC |
low complexity region
|
1089 |
1103 |
N/A |
INTRINSIC |
low complexity region
|
1141 |
1155 |
N/A |
INTRINSIC |
coiled coil region
|
1232 |
1269 |
N/A |
INTRINSIC |
low complexity region
|
1273 |
1291 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110536
AA Change: V177A
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000106165 Gene: ENSMUSG00000039219 AA Change: V177A
Domain | Start | End | E-Value | Type |
TUDOR
|
58 |
114 |
4.13e-9 |
SMART |
low complexity region
|
151 |
165 |
N/A |
INTRINSIC |
Pfam:RBB1NT
|
166 |
264 |
3.4e-46 |
PFAM |
ARID
|
303 |
394 |
3.81e-34 |
SMART |
BRIGHT
|
307 |
399 |
4.99e-36 |
SMART |
low complexity region
|
421 |
441 |
N/A |
INTRINSIC |
low complexity region
|
543 |
562 |
N/A |
INTRINSIC |
low complexity region
|
621 |
635 |
N/A |
INTRINSIC |
low complexity region
|
704 |
713 |
N/A |
INTRINSIC |
low complexity region
|
715 |
728 |
N/A |
INTRINSIC |
low complexity region
|
769 |
785 |
N/A |
INTRINSIC |
low complexity region
|
937 |
949 |
N/A |
INTRINSIC |
low complexity region
|
954 |
964 |
N/A |
INTRINSIC |
low complexity region
|
1002 |
1016 |
N/A |
INTRINSIC |
low complexity region
|
1054 |
1068 |
N/A |
INTRINSIC |
coiled coil region
|
1145 |
1182 |
N/A |
INTRINSIC |
low complexity region
|
1186 |
1204 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000129488
AA Change: V177A
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000118687 Gene: ENSMUSG00000039219 AA Change: V177A
Domain | Start | End | E-Value | Type |
TUDOR
|
58 |
114 |
4.13e-9 |
SMART |
low complexity region
|
151 |
165 |
N/A |
INTRINSIC |
Pfam:RBB1NT
|
166 |
264 |
1.8e-46 |
PFAM |
ARID
|
303 |
394 |
3.81e-34 |
SMART |
BRIGHT
|
307 |
399 |
4.99e-36 |
SMART |
low complexity region
|
421 |
441 |
N/A |
INTRINSIC |
low complexity region
|
533 |
540 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222346
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222928
|
Meta Mutation Damage Score |
0.6717 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
Validation Efficiency |
100% (78/78) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with sequence similarity to retinoblastoma-binding protein-1. The encoded protein is a subunit of the histone deacetylase-dependant SIN3A transcriptional corepressor complex, which functions in diverse cellular processes including proliferation, differentiation, apoptosis, oncogenesis, and cell fate determination. The gene product is recognized by IgG antibody isolated from a breast cancer patient and appears to be a molecular marker associated with a broad range of human malignancies. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null allele die pre-implantation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930568D16Rik |
T |
A |
2: 35,244,811 (GRCm39) |
E180D |
probably damaging |
Het |
Add3 |
A |
G |
19: 53,232,720 (GRCm39) |
|
probably null |
Het |
Adgrv1 |
A |
T |
13: 81,590,620 (GRCm39) |
I4396N |
probably damaging |
Het |
Apc |
C |
T |
18: 34,450,199 (GRCm39) |
S2331L |
possibly damaging |
Het |
Apoh |
G |
T |
11: 108,286,729 (GRCm39) |
C51F |
probably damaging |
Het |
Atp13a1 |
T |
A |
8: 70,249,935 (GRCm39) |
I343N |
probably damaging |
Het |
Bcar1 |
T |
C |
8: 112,440,032 (GRCm39) |
D654G |
probably benign |
Het |
Brox |
T |
C |
1: 183,064,072 (GRCm39) |
K245R |
probably damaging |
Het |
Ccdc146 |
A |
T |
5: 21,524,577 (GRCm39) |
S258R |
possibly damaging |
Het |
Ccdc169 |
A |
C |
3: 55,047,562 (GRCm39) |
K18Q |
probably damaging |
Het |
Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
Crot |
C |
A |
5: 9,019,120 (GRCm39) |
E478* |
probably null |
Het |
Dgkq |
A |
T |
5: 108,802,236 (GRCm39) |
M443K |
probably damaging |
Het |
Dhx32 |
A |
T |
7: 133,339,057 (GRCm39) |
L326Q |
probably damaging |
Het |
Dtwd1 |
A |
G |
2: 126,000,342 (GRCm39) |
I93V |
probably benign |
Het |
Ehmt2 |
C |
T |
17: 35,118,357 (GRCm39) |
T44I |
probably benign |
Het |
Enc1 |
T |
C |
13: 97,381,765 (GRCm39) |
S92P |
probably benign |
Het |
Epha5 |
T |
C |
5: 84,479,051 (GRCm39) |
|
probably benign |
Het |
Eya4 |
T |
A |
10: 23,031,892 (GRCm39) |
S244C |
probably damaging |
Het |
Fmnl3 |
G |
A |
15: 99,223,791 (GRCm39) |
R302W |
probably damaging |
Het |
Fscn3 |
A |
T |
6: 28,436,173 (GRCm39) |
I490F |
possibly damaging |
Het |
Galntl6 |
A |
G |
8: 58,415,436 (GRCm39) |
V239A |
probably benign |
Het |
Glg1 |
T |
C |
8: 111,892,323 (GRCm39) |
I841V |
possibly damaging |
Het |
Gm15455 |
T |
C |
1: 33,876,893 (GRCm39) |
|
noncoding transcript |
Het |
Gpd1l |
C |
T |
9: 114,743,473 (GRCm39) |
M142I |
probably benign |
Het |
Helb |
A |
G |
10: 119,927,653 (GRCm39) |
V819A |
possibly damaging |
Het |
Hnrnpul2 |
T |
G |
19: 8,802,255 (GRCm39) |
F374C |
probably damaging |
Het |
Hoxc10 |
G |
A |
15: 102,875,753 (GRCm39) |
S154N |
possibly damaging |
Het |
Ice2 |
A |
T |
9: 69,319,651 (GRCm39) |
T367S |
possibly damaging |
Het |
Iqca1 |
A |
T |
1: 90,067,819 (GRCm39) |
|
probably null |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Klhl14 |
T |
A |
18: 21,784,677 (GRCm39) |
H250L |
probably damaging |
Het |
Kmt2c |
A |
T |
5: 25,535,801 (GRCm39) |
D1447E |
probably benign |
Het |
Larp1 |
G |
T |
11: 57,940,765 (GRCm39) |
M630I |
probably benign |
Het |
Lrp2 |
A |
G |
2: 69,326,667 (GRCm39) |
|
probably null |
Het |
Map4k3 |
G |
T |
17: 80,911,427 (GRCm39) |
Q673K |
probably benign |
Het |
Mettl16 |
A |
G |
11: 74,686,823 (GRCm39) |
N201D |
possibly damaging |
Het |
Mrpl15 |
C |
A |
1: 4,855,956 (GRCm39) |
|
probably benign |
Het |
Mthfd1l |
T |
A |
10: 3,998,222 (GRCm39) |
V655D |
probably damaging |
Het |
Odf1 |
T |
C |
15: 38,226,531 (GRCm39) |
Y144H |
probably damaging |
Het |
Or2f1b |
G |
T |
6: 42,739,493 (GRCm39) |
C169F |
probably damaging |
Het |
Or5t5 |
G |
T |
2: 86,616,571 (GRCm39) |
V166L |
probably benign |
Het |
Padi1 |
T |
C |
4: 140,542,140 (GRCm39) |
Y594C |
probably damaging |
Het |
Palm3 |
T |
A |
8: 84,756,049 (GRCm39) |
D520E |
probably benign |
Het |
Paox |
G |
A |
7: 139,707,567 (GRCm39) |
C130Y |
probably damaging |
Het |
Parpbp |
T |
A |
10: 87,975,769 (GRCm39) |
S115C |
probably damaging |
Het |
Pcnx3 |
A |
G |
19: 5,721,708 (GRCm39) |
V1438A |
possibly damaging |
Het |
Pdlim2 |
T |
A |
14: 70,405,229 (GRCm39) |
D212V |
probably benign |
Het |
Pi4ka |
A |
G |
16: 17,121,006 (GRCm39) |
F53L |
probably damaging |
Het |
Pik3c2a |
A |
T |
7: 115,967,419 (GRCm39) |
D839E |
probably damaging |
Het |
Pou2f1 |
T |
C |
1: 165,710,625 (GRCm39) |
|
probably benign |
Het |
Ppl |
A |
T |
16: 4,906,492 (GRCm39) |
Y1268N |
probably benign |
Het |
Prelid3a |
C |
T |
18: 67,598,011 (GRCm39) |
S6L |
probably benign |
Het |
Ptk2 |
T |
G |
15: 73,175,682 (GRCm39) |
D285A |
possibly damaging |
Het |
Rasd2 |
T |
G |
8: 75,948,811 (GRCm39) |
Y246D |
probably damaging |
Het |
Rhbdl2 |
A |
G |
4: 123,708,120 (GRCm39) |
T110A |
probably benign |
Het |
Rhobtb1 |
T |
A |
10: 69,106,085 (GRCm39) |
F217I |
probably damaging |
Het |
Serhl |
T |
C |
15: 82,987,237 (GRCm39) |
|
probably benign |
Het |
Sh3tc2 |
A |
G |
18: 62,123,078 (GRCm39) |
E613G |
probably damaging |
Het |
Slc26a3 |
A |
G |
12: 31,502,714 (GRCm39) |
|
probably benign |
Het |
Steap4 |
T |
C |
5: 8,025,769 (GRCm39) |
I110T |
probably benign |
Het |
Syde1 |
C |
A |
10: 78,425,150 (GRCm39) |
R287L |
possibly damaging |
Het |
Tmem184c |
C |
T |
8: 78,325,291 (GRCm39) |
|
probably null |
Het |
Trmt44 |
C |
A |
5: 35,730,032 (GRCm39) |
|
probably benign |
Het |
Ttbk2 |
G |
T |
2: 120,603,764 (GRCm39) |
S256R |
probably benign |
Het |
Ttll6 |
A |
T |
11: 96,036,336 (GRCm39) |
I322F |
probably damaging |
Het |
Ubap2 |
A |
T |
4: 41,205,753 (GRCm39) |
|
probably null |
Het |
Wsb2 |
A |
T |
5: 117,515,600 (GRCm39) |
T402S |
probably damaging |
Het |
|
Other mutations in Arid4b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00482:Arid4b
|
APN |
13 |
14,365,719 (GRCm39) |
unclassified |
probably benign |
|
IGL00581:Arid4b
|
APN |
13 |
14,334,780 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00808:Arid4b
|
APN |
13 |
14,310,846 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01150:Arid4b
|
APN |
13 |
14,369,959 (GRCm39) |
nonsense |
probably null |
|
IGL01570:Arid4b
|
APN |
13 |
14,361,394 (GRCm39) |
unclassified |
probably benign |
|
IGL01942:Arid4b
|
APN |
13 |
14,310,749 (GRCm39) |
intron |
probably benign |
|
IGL02031:Arid4b
|
APN |
13 |
14,327,997 (GRCm39) |
splice site |
probably benign |
|
IGL02183:Arid4b
|
APN |
13 |
14,344,575 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0096:Arid4b
|
UTSW |
13 |
14,303,779 (GRCm39) |
missense |
probably benign |
0.08 |
R0096:Arid4b
|
UTSW |
13 |
14,303,779 (GRCm39) |
missense |
probably benign |
0.08 |
R0514:Arid4b
|
UTSW |
13 |
14,358,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R0694:Arid4b
|
UTSW |
13 |
14,362,419 (GRCm39) |
missense |
probably damaging |
0.96 |
R0746:Arid4b
|
UTSW |
13 |
14,317,623 (GRCm39) |
missense |
probably benign |
0.01 |
R1624:Arid4b
|
UTSW |
13 |
14,358,979 (GRCm39) |
missense |
probably damaging |
0.99 |
R1625:Arid4b
|
UTSW |
13 |
14,361,699 (GRCm39) |
missense |
probably damaging |
0.99 |
R1812:Arid4b
|
UTSW |
13 |
14,370,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R1891:Arid4b
|
UTSW |
13 |
14,310,821 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1990:Arid4b
|
UTSW |
13 |
14,307,021 (GRCm39) |
missense |
probably damaging |
0.99 |
R2051:Arid4b
|
UTSW |
13 |
14,362,230 (GRCm39) |
missense |
probably damaging |
0.98 |
R2060:Arid4b
|
UTSW |
13 |
14,370,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R2344:Arid4b
|
UTSW |
13 |
14,328,075 (GRCm39) |
missense |
probably benign |
0.26 |
R3605:Arid4b
|
UTSW |
13 |
14,294,826 (GRCm39) |
missense |
probably damaging |
1.00 |
R3606:Arid4b
|
UTSW |
13 |
14,294,826 (GRCm39) |
missense |
probably damaging |
1.00 |
R3844:Arid4b
|
UTSW |
13 |
14,361,645 (GRCm39) |
missense |
probably damaging |
0.99 |
R3909:Arid4b
|
UTSW |
13 |
14,307,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R3938:Arid4b
|
UTSW |
13 |
14,361,513 (GRCm39) |
missense |
probably benign |
0.34 |
R4394:Arid4b
|
UTSW |
13 |
14,329,557 (GRCm39) |
splice site |
probably null |
|
R4466:Arid4b
|
UTSW |
13 |
14,307,095 (GRCm39) |
missense |
probably damaging |
1.00 |
R4530:Arid4b
|
UTSW |
13 |
14,301,040 (GRCm39) |
missense |
probably damaging |
0.98 |
R4537:Arid4b
|
UTSW |
13 |
14,294,746 (GRCm39) |
nonsense |
probably null |
|
R4829:Arid4b
|
UTSW |
13 |
14,359,023 (GRCm39) |
missense |
probably benign |
0.23 |
R4930:Arid4b
|
UTSW |
13 |
14,362,062 (GRCm39) |
missense |
probably damaging |
0.99 |
R4972:Arid4b
|
UTSW |
13 |
14,334,857 (GRCm39) |
missense |
probably benign |
0.07 |
R5119:Arid4b
|
UTSW |
13 |
14,338,866 (GRCm39) |
missense |
probably benign |
0.15 |
R5236:Arid4b
|
UTSW |
13 |
14,301,034 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5304:Arid4b
|
UTSW |
13 |
14,361,514 (GRCm39) |
missense |
probably benign |
0.34 |
R5439:Arid4b
|
UTSW |
13 |
14,362,281 (GRCm39) |
missense |
probably damaging |
0.99 |
R5734:Arid4b
|
UTSW |
13 |
14,334,856 (GRCm39) |
missense |
probably benign |
0.09 |
R5950:Arid4b
|
UTSW |
13 |
14,365,849 (GRCm39) |
splice site |
probably benign |
|
R6645:Arid4b
|
UTSW |
13 |
14,294,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R6765:Arid4b
|
UTSW |
13 |
14,361,900 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6804:Arid4b
|
UTSW |
13 |
14,303,792 (GRCm39) |
missense |
probably benign |
0.44 |
R7342:Arid4b
|
UTSW |
13 |
14,310,804 (GRCm39) |
missense |
probably benign |
0.03 |
R7354:Arid4b
|
UTSW |
13 |
14,339,455 (GRCm39) |
missense |
probably benign |
0.19 |
R7426:Arid4b
|
UTSW |
13 |
14,355,891 (GRCm39) |
critical splice donor site |
probably null |
|
R7863:Arid4b
|
UTSW |
13 |
14,338,734 (GRCm39) |
missense |
probably benign |
0.01 |
R8070:Arid4b
|
UTSW |
13 |
14,310,844 (GRCm39) |
missense |
probably benign |
0.32 |
R8076:Arid4b
|
UTSW |
13 |
14,361,535 (GRCm39) |
missense |
probably benign |
0.01 |
R8239:Arid4b
|
UTSW |
13 |
14,344,594 (GRCm39) |
missense |
probably benign |
|
R8303:Arid4b
|
UTSW |
13 |
14,294,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R9047:Arid4b
|
UTSW |
13 |
14,355,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R9799:Arid4b
|
UTSW |
13 |
14,358,967 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACAGACTATTGAACCAGACTGC -3'
(R):5'- CCTTATCTTAGAGATGGAGAAGCAG -3'
Sequencing Primer
(F):5'- TGAACCAGACTGCTAACTCTTGG -3'
(R):5'- TCTGCATATAAAGCTGGGATCCC -3'
|
Posted On |
2017-03-31 |