Incidental Mutation 'R5734:Arid4b'
| ID |
501401 |
| 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 |
043348-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5734 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
14238334-14374188 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14334856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 355
(N355S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118687
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039538]
[ENSMUST00000110533]
[ENSMUST00000110534]
[ENSMUST00000110536]
[ENSMUST00000129488]
|
| AlphaFold |
A2CG63 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039538
AA Change: N355S
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000043889
Gene: ENSMUSG00000039219
AA Change: N355S
| 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: N355S
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000106162
Gene: ENSMUSG00000039219
AA Change: N355S
| 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: N355S
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000106163
Gene: ENSMUSG00000039219
AA Change: N355S
| 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: N355S
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000106165
Gene: ENSMUSG00000039219
AA Change: N355S
| 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: N355S
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000118687
Gene: ENSMUSG00000039219
AA Change: N355S
| 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 |
0.0643 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.8%
|
| Validation Efficiency |
98% (61/62) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
A |
G |
9: 46,215,303 (GRCm39) |
|
probably benign |
Het |
| Abcc9 |
A |
G |
6: 142,571,457 (GRCm39) |
|
probably benign |
Het |
| Adamts2 |
G |
A |
11: 50,679,494 (GRCm39) |
G825R |
probably damaging |
Het |
| Adgre1 |
A |
T |
17: 57,750,990 (GRCm39) |
R555W |
probably benign |
Het |
| Apob |
T |
A |
12: 8,038,781 (GRCm39) |
V398D |
probably damaging |
Het |
| Asb3 |
G |
T |
11: 30,979,021 (GRCm39) |
D143Y |
probably damaging |
Het |
| Birc6 |
G |
A |
17: 74,925,419 (GRCm39) |
|
probably benign |
Het |
| Cacna1a |
A |
G |
8: 85,310,360 (GRCm39) |
M1425V |
probably damaging |
Het |
| Capn9 |
A |
G |
8: 125,332,583 (GRCm39) |
E474G |
probably damaging |
Het |
| Capza2 |
T |
C |
6: 17,660,764 (GRCm39) |
S155P |
probably damaging |
Het |
| Ccdc125 |
A |
G |
13: 100,823,622 (GRCm39) |
N202S |
possibly damaging |
Het |
| Ccn1 |
A |
G |
3: 145,354,023 (GRCm39) |
C256R |
probably damaging |
Het |
| Chrm5 |
T |
A |
2: 112,310,445 (GRCm39) |
T224S |
probably benign |
Het |
| Chtop |
C |
T |
3: 90,409,422 (GRCm39) |
|
probably null |
Het |
| Clip1 |
T |
C |
5: 123,753,217 (GRCm39) |
|
probably benign |
Het |
| Dbx2 |
T |
C |
15: 95,552,604 (GRCm39) |
T14A |
possibly damaging |
Het |
| Dcaf8 |
T |
C |
1: 172,000,478 (GRCm39) |
V212A |
possibly damaging |
Het |
| Fam114a1 |
T |
C |
5: 65,166,389 (GRCm39) |
M240T |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,504,246 (GRCm39) |
Y4580H |
probably damaging |
Het |
| Glipr1 |
G |
A |
10: 111,821,698 (GRCm39) |
R200* |
probably null |
Het |
| Gm6408 |
A |
T |
5: 146,419,192 (GRCm39) |
Y69F |
probably benign |
Het |
| Gpt2 |
T |
C |
8: 86,249,885 (GRCm39) |
S456P |
probably benign |
Het |
| Kat8 |
T |
C |
7: 127,519,751 (GRCm39) |
F225S |
probably benign |
Het |
| Lactb2 |
T |
A |
1: 13,730,611 (GRCm39) |
N22Y |
probably damaging |
Het |
| Lin28a |
A |
T |
4: 133,735,284 (GRCm39) |
C67* |
probably null |
Het |
| Mtarc2 |
T |
C |
1: 184,564,786 (GRCm39) |
E155G |
probably benign |
Het |
| Myoz3 |
G |
A |
18: 60,712,543 (GRCm39) |
T104M |
possibly damaging |
Het |
| Nek9 |
C |
T |
12: 85,350,289 (GRCm39) |
M928I |
probably benign |
Het |
| Nlrp9a |
G |
C |
7: 26,270,065 (GRCm39) |
A831P |
probably damaging |
Het |
| Nop53 |
T |
C |
7: 15,679,887 (GRCm39) |
|
probably null |
Het |
| Ofcc1 |
T |
A |
13: 40,241,325 (GRCm39) |
T728S |
probably damaging |
Het |
| Pabpc4l |
T |
A |
3: 46,401,124 (GRCm39) |
|
probably null |
Het |
| Rbm34 |
T |
C |
8: 127,696,880 (GRCm39) |
|
probably null |
Het |
| Relch |
T |
C |
1: 105,631,608 (GRCm39) |
|
probably benign |
Het |
| Robo2 |
C |
T |
16: 74,149,672 (GRCm39) |
C52Y |
probably damaging |
Het |
| Rpgr |
G |
A |
X: 10,032,511 (GRCm39) |
P857L |
probably benign |
Het |
| Scn2a |
A |
G |
2: 65,548,066 (GRCm39) |
Y57C |
possibly damaging |
Het |
| Selp |
C |
T |
1: 163,971,460 (GRCm39) |
|
probably benign |
Het |
| Skp2 |
T |
C |
15: 9,139,566 (GRCm39) |
D43G |
possibly damaging |
Het |
| Smad5 |
T |
A |
13: 56,871,617 (GRCm39) |
S71T |
probably damaging |
Het |
| Sorcs1 |
G |
T |
19: 50,171,213 (GRCm39) |
H892N |
probably benign |
Het |
| Sox6 |
C |
T |
7: 115,140,856 (GRCm39) |
|
probably null |
Het |
| St3gal1 |
A |
T |
15: 66,978,522 (GRCm39) |
I333N |
probably damaging |
Het |
| Tex15 |
C |
A |
8: 34,036,364 (GRCm39) |
Q97K |
probably benign |
Het |
| Tnxb |
A |
T |
17: 34,917,884 (GRCm39) |
T2266S |
possibly damaging |
Het |
| Tpbgl |
C |
A |
7: 99,274,949 (GRCm39) |
G303C |
probably damaging |
Het |
| Trat1 |
A |
T |
16: 48,555,304 (GRCm39) |
S143T |
possibly damaging |
Het |
| Trpm8 |
T |
A |
1: 88,283,002 (GRCm39) |
V763E |
probably benign |
Het |
| Ttc21a |
G |
A |
9: 119,795,732 (GRCm39) |
D1189N |
probably benign |
Het |
| Usp7 |
T |
C |
16: 8,519,845 (GRCm39) |
N178D |
possibly damaging |
Het |
| Zfp217 |
T |
C |
2: 169,961,064 (GRCm39) |
D421G |
possibly damaging |
Het |
| Zfp382 |
T |
C |
7: 29,833,855 (GRCm39) |
F502S |
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 |
|
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'- AATGGAGCCACGGGTTTAG -3'
(R):5'- GTTTCATTCTGACAGAGGAAATGAC -3'
Sequencing Primer
(F):5'- CACGGGTTTAGATAAGAAAGTGTTTG -3'
(R):5'- TTCTGACAGAGGAAATGACAAAGTG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation