Incidental Mutation 'R1812:Arid4b'
ID |
202503 |
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 |
039840-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1812 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
14238334-14374188 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 14370014 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 1170
(A1170V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106165
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039538]
[ENSMUST00000110534]
[ENSMUST00000110536]
|
AlphaFold |
A2CG63 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039538
AA Change: A1170V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000043889 Gene: ENSMUSG00000039219 AA Change: A1170V
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 damaging
Transcript: ENSMUST00000110534
AA Change: A1257V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106163 Gene: ENSMUSG00000039219 AA Change: A1257V
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 |
probably damaging
Transcript: ENSMUST00000110536
AA Change: A1170V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106165 Gene: ENSMUSG00000039219 AA Change: A1170V
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 |
noncoding transcript
Transcript: ENSMUST00000148941
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149579
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151151
|
Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.3%
- 10x: 93.2%
- 20x: 85.7%
|
Validation Efficiency |
100% (1/1) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
G |
A |
9: 57,164,740 (GRCm39) |
Q545* |
probably null |
Het |
Aadacl2 |
T |
C |
3: 59,932,498 (GRCm39) |
C338R |
probably damaging |
Het |
Abcb4 |
G |
A |
5: 8,978,578 (GRCm39) |
|
probably null |
Het |
Adam17 |
T |
C |
12: 21,411,768 (GRCm39) |
D41G |
probably damaging |
Het |
Angptl7 |
T |
A |
4: 148,582,540 (GRCm39) |
I119F |
probably damaging |
Het |
Arid1b |
T |
A |
17: 5,387,304 (GRCm39) |
S1586T |
probably benign |
Het |
Atad5 |
A |
G |
11: 80,023,873 (GRCm39) |
T1659A |
probably damaging |
Het |
Bub1b |
T |
G |
2: 118,462,902 (GRCm39) |
D754E |
probably benign |
Het |
Cdkn1a |
T |
C |
17: 29,317,539 (GRCm39) |
V53A |
probably benign |
Het |
Chsy1 |
T |
G |
7: 65,821,565 (GRCm39) |
V600G |
probably benign |
Het |
Cntrl |
G |
A |
2: 35,039,481 (GRCm39) |
V561M |
probably damaging |
Het |
Col6a5 |
A |
G |
9: 105,805,253 (GRCm39) |
C1218R |
unknown |
Het |
Crhr1 |
T |
C |
11: 104,059,973 (GRCm39) |
L140P |
probably damaging |
Het |
Cyb5b |
CAGAG |
CAG |
8: 107,897,020 (GRCm39) |
|
probably null |
Het |
Cyp3a59 |
A |
T |
5: 146,039,621 (GRCm39) |
Q298L |
probably damaging |
Het |
Dctn1 |
A |
G |
6: 83,169,500 (GRCm39) |
E638G |
possibly damaging |
Het |
Ddx41 |
A |
G |
13: 55,683,767 (GRCm39) |
I88T |
probably benign |
Het |
Dennd11 |
A |
G |
6: 40,386,365 (GRCm39) |
I288T |
probably benign |
Het |
Diaph1 |
G |
T |
18: 38,024,071 (GRCm39) |
P589Q |
unknown |
Het |
Dip2b |
C |
A |
15: 100,096,819 (GRCm39) |
|
probably null |
Het |
Dscaml1 |
G |
A |
9: 45,662,584 (GRCm39) |
|
probably null |
Het |
Dync1h1 |
C |
T |
12: 110,629,334 (GRCm39) |
A4246V |
possibly damaging |
Het |
Epb41l1 |
T |
C |
2: 156,338,431 (GRCm39) |
I158T |
probably damaging |
Het |
Fat1 |
A |
G |
8: 45,489,840 (GRCm39) |
Y3584C |
probably damaging |
Het |
Fxyd5 |
T |
A |
7: 30,737,355 (GRCm39) |
|
probably null |
Het |
Gapvd1 |
T |
A |
2: 34,615,076 (GRCm39) |
K336* |
probably null |
Het |
Gm9637 |
G |
A |
14: 19,402,395 (GRCm38) |
|
noncoding transcript |
Het |
Gpr65 |
C |
T |
12: 98,242,001 (GRCm39) |
T218M |
probably damaging |
Het |
Gsdma3 |
T |
C |
11: 98,523,219 (GRCm39) |
V203A |
probably damaging |
Het |
Helb |
T |
A |
10: 119,925,471 (GRCm39) |
K969* |
probably null |
Het |
Hipk2 |
G |
A |
6: 38,675,098 (GRCm39) |
A1188V |
probably benign |
Het |
Itpk1 |
T |
A |
12: 102,540,317 (GRCm39) |
E255D |
probably benign |
Het |
Kif21a |
T |
C |
15: 90,855,969 (GRCm39) |
D596G |
possibly damaging |
Het |
Kif5a |
A |
T |
10: 127,077,879 (GRCm39) |
I405N |
probably benign |
Het |
Klk1b11 |
T |
A |
7: 43,427,179 (GRCm39) |
|
probably null |
Het |
Luzp1 |
T |
A |
4: 136,269,642 (GRCm39) |
L622M |
probably benign |
Het |
Macf1 |
T |
A |
4: 123,325,817 (GRCm39) |
I5227F |
probably damaging |
Het |
Mapk10 |
A |
C |
5: 103,061,128 (GRCm39) |
S470A |
probably damaging |
Het |
Morc2a |
C |
T |
11: 3,635,831 (GRCm39) |
T897I |
probably damaging |
Het |
Nmbr |
A |
G |
10: 14,636,283 (GRCm39) |
|
probably null |
Het |
Nosip |
T |
A |
7: 44,725,998 (GRCm39) |
M214K |
probably damaging |
Het |
Or13c7d |
G |
T |
4: 43,770,230 (GRCm39) |
Y260* |
probably null |
Het |
Or52m2 |
A |
T |
7: 102,263,577 (GRCm39) |
N206K |
possibly damaging |
Het |
Or52r1 |
T |
C |
7: 102,537,285 (GRCm39) |
Y25C |
probably benign |
Het |
Or5w13 |
A |
G |
2: 87,523,447 (GRCm39) |
F260L |
probably benign |
Het |
Pik3c2a |
A |
T |
7: 116,016,899 (GRCm39) |
V286E |
probably damaging |
Het |
Ppfia4 |
T |
A |
1: 134,252,311 (GRCm39) |
I388F |
probably benign |
Het |
Ppm1f |
A |
G |
16: 16,735,651 (GRCm39) |
H289R |
probably damaging |
Het |
Ptprz1 |
T |
A |
6: 22,959,711 (GRCm39) |
D69E |
probably benign |
Het |
Rad54b |
A |
T |
4: 11,612,770 (GRCm39) |
T801S |
probably damaging |
Het |
Ramp1 |
A |
T |
1: 91,124,579 (GRCm39) |
N47Y |
probably damaging |
Het |
Rnf32 |
T |
A |
5: 29,411,258 (GRCm39) |
H181Q |
possibly damaging |
Het |
Rpa2 |
T |
C |
4: 132,495,996 (GRCm39) |
F6L |
probably benign |
Het |
Ryr2 |
C |
A |
13: 11,575,472 (GRCm39) |
R4842L |
probably damaging |
Het |
Scn11a |
G |
T |
9: 119,609,931 (GRCm39) |
C972* |
probably null |
Het |
Setd2 |
C |
T |
9: 110,379,170 (GRCm39) |
T995I |
probably damaging |
Het |
Slc39a7 |
A |
G |
17: 34,247,789 (GRCm39) |
L471P |
probably damaging |
Het |
Slc6a21 |
C |
G |
7: 44,932,371 (GRCm39) |
S350R |
probably damaging |
Het |
Slx4ip |
A |
G |
2: 136,910,115 (GRCm39) |
N300S |
probably benign |
Het |
Spef2 |
G |
A |
15: 9,679,435 (GRCm39) |
P634L |
probably damaging |
Het |
Stk32b |
G |
A |
5: 37,624,102 (GRCm39) |
A215V |
probably damaging |
Het |
Svil |
A |
T |
18: 5,097,545 (GRCm39) |
Y1676F |
probably damaging |
Het |
Tanc1 |
G |
A |
2: 59,622,023 (GRCm39) |
V381M |
probably damaging |
Het |
Tanc2 |
T |
C |
11: 105,777,212 (GRCm39) |
F797L |
probably benign |
Het |
Tas2r120 |
T |
G |
6: 132,634,564 (GRCm39) |
C215W |
probably benign |
Het |
Tenm4 |
G |
A |
7: 96,545,147 (GRCm39) |
D2388N |
probably damaging |
Het |
Thsd4 |
C |
T |
9: 59,964,220 (GRCm39) |
S64N |
probably damaging |
Het |
Thsd7b |
C |
T |
1: 129,686,347 (GRCm39) |
R630C |
probably damaging |
Het |
Top3a |
A |
G |
11: 60,650,188 (GRCm39) |
I145T |
probably damaging |
Het |
Vmn2r78 |
A |
G |
7: 86,569,995 (GRCm39) |
D171G |
probably benign |
Het |
Vmn2r82 |
A |
G |
10: 79,215,046 (GRCm39) |
E343G |
probably benign |
Het |
Wdr70 |
T |
C |
15: 8,108,663 (GRCm39) |
D161G |
probably benign |
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 |
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 |
|
R5951:Arid4b
|
UTSW |
13 |
14,317,648 (GRCm39) |
missense |
possibly damaging |
0.80 |
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'- TGTGCACCAACACACATGG -3'
(R):5'- GCACTGTGATGTCATTAACAGATG -3'
Sequencing Primer
(F):5'- GACCTTACTCTAAGACTACATTGGC -3'
(R):5'- TGTCATTAACAGATGAAGCTGACAGC -3'
|
Posted On |
2014-06-23 |