Incidental Mutation 'R4972:Arid4b'
ID |
444548 |
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 |
042567-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4972 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
14238334-14374188 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 14334857 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 355
(N355K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106162
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039538]
[ENSMUST00000110533]
[ENSMUST00000110534]
[ENSMUST00000110536]
[ENSMUST00000129488]
|
AlphaFold |
A2CG63 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039538
AA Change: N355K
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000043889 Gene: ENSMUSG00000039219 AA Change: N355K
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: N355K
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000106162 Gene: ENSMUSG00000039219 AA Change: N355K
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 |
probably benign
Transcript: ENSMUST00000110534
AA Change: N355K
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000106163 Gene: ENSMUSG00000039219 AA Change: N355K
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 benign
Transcript: ENSMUST00000110536
AA Change: N355K
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000106165 Gene: ENSMUSG00000039219 AA Change: N355K
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: ENSMUST00000129488
AA Change: N355K
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000118687 Gene: ENSMUSG00000039219 AA Change: N355K
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: ENSMUST00000149579
|
Meta Mutation Damage Score |
0.2289 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.2%
|
Validation Efficiency |
93% (82/88) |
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 |
3425401B19Rik |
A |
T |
14: 32,383,361 (GRCm39) |
I868N |
possibly damaging |
Het |
A730013G03Rik |
C |
G |
1: 192,516,081 (GRCm39) |
|
noncoding transcript |
Het |
Actl11 |
A |
G |
9: 107,807,155 (GRCm39) |
T493A |
probably benign |
Het |
Actn1 |
T |
C |
12: 80,219,813 (GRCm39) |
D686G |
probably benign |
Het |
Adamts1 |
G |
A |
16: 85,592,833 (GRCm39) |
T525I |
probably damaging |
Het |
Adcy10 |
T |
A |
1: 165,384,431 (GRCm39) |
L1064H |
probably damaging |
Het |
AI661453 |
A |
T |
17: 47,777,324 (GRCm39) |
|
probably benign |
Het |
Apba1 |
T |
A |
19: 23,889,900 (GRCm39) |
S433T |
probably benign |
Het |
Bsn |
A |
T |
9: 107,992,377 (GRCm39) |
M1125K |
probably damaging |
Het |
C2cd5 |
A |
T |
6: 142,958,950 (GRCm39) |
M1003K |
probably damaging |
Het |
Ccdc18 |
A |
G |
5: 108,339,869 (GRCm39) |
M805V |
probably benign |
Het |
Cep89 |
T |
G |
7: 35,131,977 (GRCm39) |
L637R |
probably damaging |
Het |
Col24a1 |
A |
T |
3: 145,215,439 (GRCm39) |
I1444F |
probably benign |
Het |
Commd4 |
A |
T |
9: 57,062,732 (GRCm39) |
S175T |
probably benign |
Het |
Coq7 |
A |
G |
7: 118,109,340 (GRCm39) |
V236A |
unknown |
Het |
Dctn2 |
C |
T |
10: 127,112,572 (GRCm39) |
R176C |
probably damaging |
Het |
Ddx31 |
T |
C |
2: 28,750,782 (GRCm39) |
F389L |
probably damaging |
Het |
Dgkz |
C |
T |
2: 91,776,047 (GRCm39) |
R72H |
probably benign |
Het |
Dpysl4 |
A |
G |
7: 138,670,206 (GRCm39) |
D24G |
probably damaging |
Het |
Dydc1 |
A |
G |
14: 40,804,295 (GRCm39) |
T106A |
probably benign |
Het |
F13b |
A |
G |
1: 139,438,661 (GRCm39) |
Y355C |
probably damaging |
Het |
Fcrl5 |
A |
G |
3: 87,361,957 (GRCm39) |
M407V |
probably benign |
Het |
Fzd5 |
C |
A |
1: 64,775,171 (GRCm39) |
V197L |
probably benign |
Het |
Galnt16 |
G |
T |
12: 80,619,103 (GRCm39) |
E70* |
probably null |
Het |
Gpr171 |
A |
T |
3: 59,005,386 (GRCm39) |
F130I |
probably damaging |
Het |
Grin3a |
T |
C |
4: 49,770,484 (GRCm39) |
N763D |
probably damaging |
Het |
Gsta2 |
A |
T |
9: 78,244,961 (GRCm39) |
M51K |
probably damaging |
Het |
Gvin-ps3 |
T |
C |
7: 105,682,521 (GRCm39) |
|
noncoding transcript |
Het |
Hacd3 |
A |
T |
9: 64,897,718 (GRCm39) |
I298N |
probably damaging |
Het |
Il18r1 |
C |
T |
1: 40,530,224 (GRCm39) |
P317L |
probably benign |
Het |
Iscu |
T |
A |
5: 113,915,037 (GRCm39) |
|
probably benign |
Het |
Kif6 |
A |
G |
17: 50,014,647 (GRCm39) |
D250G |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lcn6 |
T |
A |
2: 25,570,079 (GRCm39) |
C82S |
probably damaging |
Het |
Mob4 |
C |
G |
1: 55,190,161 (GRCm39) |
L135V |
possibly damaging |
Het |
Mpzl3 |
T |
A |
9: 44,973,554 (GRCm39) |
|
probably benign |
Het |
Mvp |
T |
C |
7: 126,588,970 (GRCm39) |
D599G |
probably damaging |
Het |
Myo1a |
T |
C |
10: 127,552,178 (GRCm39) |
Y766H |
probably benign |
Het |
Myo5b |
A |
G |
18: 74,760,264 (GRCm39) |
H260R |
probably damaging |
Het |
Nbea |
C |
T |
3: 55,992,667 (GRCm39) |
R313H |
probably damaging |
Het |
Necab1 |
T |
A |
4: 14,978,216 (GRCm39) |
D211V |
probably damaging |
Het |
Nefl |
G |
T |
14: 68,324,212 (GRCm39) |
|
probably benign |
Het |
Nfx1 |
T |
A |
4: 40,976,375 (GRCm39) |
D16E |
probably benign |
Het |
Nlrp9a |
G |
T |
7: 26,269,964 (GRCm39) |
C797F |
probably damaging |
Het |
Or4k36 |
T |
A |
2: 111,146,163 (GRCm39) |
V113E |
probably damaging |
Het |
Or5p5 |
A |
G |
7: 107,413,953 (GRCm39) |
Q56R |
probably benign |
Het |
Pde6b |
A |
G |
5: 108,573,130 (GRCm39) |
D500G |
probably benign |
Het |
Pgs1 |
T |
C |
11: 117,896,719 (GRCm39) |
|
probably null |
Het |
Polr3b |
T |
A |
10: 84,473,988 (GRCm39) |
I189N |
probably damaging |
Het |
Ppwd1 |
A |
T |
13: 104,356,616 (GRCm39) |
S300T |
probably benign |
Het |
Prl2c2 |
A |
C |
13: 13,176,755 (GRCm39) |
N55K |
possibly damaging |
Het |
Prpf19 |
C |
T |
19: 10,876,709 (GRCm39) |
|
probably benign |
Het |
Prph2 |
G |
T |
17: 47,221,733 (GRCm39) |
L37F |
possibly damaging |
Het |
Ptprg |
G |
T |
14: 12,226,427 (GRCm38) |
R565L |
possibly damaging |
Het |
Rab8a |
C |
T |
8: 72,925,119 (GRCm39) |
T74M |
probably damaging |
Het |
Rexo1 |
A |
T |
10: 80,385,527 (GRCm39) |
F510L |
probably damaging |
Het |
Rexo2 |
G |
T |
9: 48,390,689 (GRCm39) |
T51K |
probably damaging |
Het |
Sh3d21 |
T |
C |
4: 126,046,209 (GRCm39) |
K147R |
possibly damaging |
Het |
Skint6 |
A |
G |
4: 112,692,265 (GRCm39) |
I1062T |
probably benign |
Het |
Spag16 |
C |
T |
1: 70,764,087 (GRCm39) |
R636W |
probably damaging |
Het |
Spata16 |
T |
C |
3: 26,894,872 (GRCm39) |
I307T |
possibly damaging |
Het |
Speer4f2 |
T |
G |
5: 17,579,423 (GRCm39) |
I74S |
probably benign |
Het |
Svep1 |
T |
A |
4: 58,087,778 (GRCm39) |
Y1767F |
possibly damaging |
Het |
Swt1 |
T |
C |
1: 151,299,293 (GRCm39) |
S7G |
probably benign |
Het |
Tex9 |
A |
G |
9: 72,385,620 (GRCm39) |
|
probably null |
Het |
Thsd7b |
C |
A |
1: 130,116,309 (GRCm39) |
P1354H |
probably damaging |
Het |
Ticrr |
A |
G |
7: 79,319,416 (GRCm39) |
D467G |
probably damaging |
Het |
Tmco5b |
A |
C |
2: 113,127,338 (GRCm39) |
D303A |
probably damaging |
Het |
Trpm7 |
A |
G |
2: 126,665,978 (GRCm39) |
V876A |
probably damaging |
Het |
Ttc21a |
G |
A |
9: 119,774,027 (GRCm39) |
E245K |
probably benign |
Het |
Vezt |
C |
T |
10: 93,836,212 (GRCm39) |
|
probably null |
Het |
Zscan20 |
G |
A |
4: 128,486,152 (GRCm39) |
P183S |
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 |
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'- TGGAGCCACGGGTTTAGATAAG -3'
(R):5'- CTGTTTCATTCTGACAGAGGAAATGAC -3'
Sequencing Primer
(F):5'- CACGGGTTTAGATAAGAAAGTGTTTG -3'
(R):5'- TTCTGACAGAGGAAATGACAAAGTG -3'
|
Posted On |
2016-11-15 |