Incidental Mutation 'R6765:Arid4b'
ID |
531878 |
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 |
044881-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6765 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
14238334-14374188 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 14361900 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 788
(M788K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106165
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039538]
[ENSMUST00000110534]
[ENSMUST00000110536]
|
AlphaFold |
A2CG63 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039538
AA Change: M788K
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000043889 Gene: ENSMUSG00000039219 AA Change: M788K
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: ENSMUST00000110534
AA Change: M875K
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000106163 Gene: ENSMUSG00000039219 AA Change: M875K
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: M788K
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000106165 Gene: ENSMUSG00000039219 AA Change: M788K
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: ENSMUST00000151151
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
Validation Efficiency |
100% (58/58) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl3 |
C |
A |
7: 82,216,232 (GRCm39) |
D878E |
possibly damaging |
Het |
Adipor2 |
A |
C |
6: 119,334,203 (GRCm39) |
F336V |
possibly damaging |
Het |
Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
Aoc1 |
A |
G |
6: 48,882,871 (GRCm39) |
N249S |
probably benign |
Het |
Ap1b1 |
T |
A |
11: 4,969,427 (GRCm39) |
L261Q |
probably damaging |
Het |
Ap3b1 |
T |
A |
13: 94,599,017 (GRCm39) |
D530E |
probably benign |
Het |
Atp2c2 |
A |
T |
8: 120,479,756 (GRCm39) |
I762F |
probably damaging |
Het |
Bhlhe23 |
C |
A |
2: 180,418,136 (GRCm39) |
R134L |
probably damaging |
Het |
Cacna2d3 |
T |
C |
14: 28,777,934 (GRCm39) |
D687G |
probably damaging |
Het |
Ccdc136 |
G |
A |
6: 29,405,940 (GRCm39) |
M95I |
probably benign |
Het |
Cdk12 |
T |
A |
11: 98,115,355 (GRCm39) |
I832N |
unknown |
Het |
Clcn2 |
A |
C |
16: 20,526,418 (GRCm39) |
|
probably null |
Het |
Csrnp2 |
C |
T |
15: 100,380,574 (GRCm39) |
R239Q |
probably damaging |
Het |
Dhrs13 |
T |
A |
11: 77,927,965 (GRCm39) |
D270E |
probably benign |
Het |
Dlgap2 |
G |
A |
8: 14,793,284 (GRCm39) |
G426D |
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Fam120a |
A |
G |
13: 49,045,440 (GRCm39) |
Y799H |
probably damaging |
Het |
Farp1 |
G |
A |
14: 121,460,066 (GRCm39) |
V112I |
probably benign |
Het |
Fhip2a |
A |
G |
19: 57,367,177 (GRCm39) |
D240G |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,816,776 (GRCm39) |
I4170V |
probably benign |
Het |
Gm12185 |
A |
G |
11: 48,806,531 (GRCm39) |
V220A |
probably benign |
Het |
Gpr37l1 |
T |
C |
1: 135,094,860 (GRCm39) |
Y128C |
probably damaging |
Het |
Gsto2 |
A |
T |
19: 47,860,227 (GRCm39) |
R7* |
probably null |
Het |
Itih3 |
C |
T |
14: 30,631,430 (GRCm39) |
G822D |
probably benign |
Het |
Kcnu1 |
A |
T |
8: 26,403,673 (GRCm39) |
D728V |
probably damaging |
Het |
Khdc4 |
G |
T |
3: 88,593,736 (GRCm39) |
G42W |
probably damaging |
Het |
Lnpep |
G |
A |
17: 17,750,758 (GRCm39) |
T976I |
probably damaging |
Het |
Map1b |
A |
C |
13: 99,562,449 (GRCm39) |
H2420Q |
unknown |
Het |
Mc1r |
A |
G |
8: 124,134,435 (GRCm39) |
K63E |
probably damaging |
Het |
Mpped1 |
G |
A |
15: 83,720,584 (GRCm39) |
V15M |
probably damaging |
Het |
Ncor1 |
T |
C |
11: 62,264,272 (GRCm39) |
T103A |
probably benign |
Het |
Nhsl1 |
A |
T |
10: 18,407,062 (GRCm39) |
T1399S |
probably benign |
Het |
Nlrc5 |
C |
T |
8: 95,216,996 (GRCm39) |
T995M |
probably benign |
Het |
Nrbp1 |
G |
A |
5: 31,403,190 (GRCm39) |
|
probably null |
Het |
Or10g9 |
A |
C |
9: 39,912,493 (GRCm39) |
F10C |
probably damaging |
Het |
Or4c116 |
G |
T |
2: 88,942,640 (GRCm39) |
T72N |
possibly damaging |
Het |
Or8k27 |
T |
C |
2: 86,275,580 (GRCm39) |
T249A |
probably benign |
Het |
Pcdhb13 |
T |
C |
18: 37,576,663 (GRCm39) |
L347P |
probably damaging |
Het |
Pkhd1 |
T |
C |
1: 20,128,563 (GRCm39) |
T4047A |
probably benign |
Het |
Prrt2 |
T |
A |
7: 126,618,769 (GRCm39) |
D232V |
probably damaging |
Het |
Psmd5 |
A |
C |
2: 34,746,545 (GRCm39) |
M344R |
probably benign |
Het |
Pwp1 |
G |
A |
10: 85,720,397 (GRCm39) |
E345K |
probably damaging |
Het |
Qsox1 |
A |
G |
1: 155,666,851 (GRCm39) |
Y213H |
probably benign |
Het |
Rmc1 |
A |
G |
18: 12,309,203 (GRCm39) |
N92D |
possibly damaging |
Het |
Sclt1 |
T |
C |
3: 41,685,337 (GRCm39) |
R39G |
unknown |
Het |
Syne1 |
A |
T |
10: 5,093,285 (GRCm39) |
|
probably null |
Het |
Tmem163 |
G |
T |
1: 127,479,078 (GRCm39) |
A147E |
probably damaging |
Het |
Trav13n-4 |
A |
T |
14: 53,601,557 (GRCm39) |
M109L |
probably benign |
Het |
Trp53bp1 |
T |
C |
2: 121,039,790 (GRCm39) |
E1283G |
probably damaging |
Het |
Trpm6 |
T |
A |
19: 18,855,129 (GRCm39) |
D1929E |
probably damaging |
Het |
Upb1 |
A |
T |
10: 75,273,978 (GRCm39) |
D335V |
probably damaging |
Het |
Vps26b |
T |
C |
9: 26,924,104 (GRCm39) |
E213G |
probably damaging |
Het |
Vwc2 |
C |
T |
11: 11,104,215 (GRCm39) |
T249I |
probably benign |
Het |
Wwc2 |
A |
G |
8: 48,353,826 (GRCm39) |
Y103H |
possibly damaging |
Het |
Zan |
A |
G |
5: 137,391,409 (GRCm39) |
C4692R |
unknown |
Het |
Zfp106 |
T |
C |
2: 120,369,935 (GRCm39) |
E29G |
probably damaging |
Het |
Zfp551 |
G |
A |
7: 12,150,767 (GRCm39) |
A214V |
possibly damaging |
Het |
Zfp981 |
T |
A |
4: 146,622,363 (GRCm39) |
H429Q |
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 |
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 |
|
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 |
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'- TCGGAAGATACTGATTTTGAAGAGG -3'
(R):5'- AGGCCACTGTCCCTGAATAC -3'
Sequencing Primer
(F):5'- GACACAACAGACAAGGCTTTAAAG -3'
(R):5'- TGTCCCTGAATACTTGACCAGAC -3'
|
Posted On |
2018-08-29 |