Incidental Mutation 'R5950:Arid4b'
| ID |
472402 |
| 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 |
044140-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5950 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
14238334-14374188 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 14365849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039538]
[ENSMUST00000110534]
[ENSMUST00000110536]
|
| AlphaFold |
A2CG63 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039538
|
| SMART Domains |
Protein: ENSMUSP00000043889
Gene: ENSMUSG00000039219
| 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
|
| SMART Domains |
Protein: ENSMUSP00000106163
Gene: ENSMUSG00000039219
| 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
|
| SMART Domains |
Protein: ENSMUSP00000106165
Gene: ENSMUSG00000039219
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
93% (75/81) |
| 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 |
|---|
| Abca15 |
G |
A |
7: 119,981,879 (GRCm39) |
G1065R |
probably damaging |
Het |
| Acox2 |
A |
T |
14: 8,255,793 (GRCm38) |
Y113N |
probably benign |
Het |
| Atf6 |
C |
T |
1: 170,662,448 (GRCm39) |
G271R |
probably damaging |
Het |
| Bnip5 |
T |
A |
17: 29,124,729 (GRCm39) |
Q256L |
possibly damaging |
Het |
| Cct8l1 |
C |
A |
5: 25,722,741 (GRCm39) |
F485L |
probably benign |
Het |
| Cdk5r2 |
A |
G |
1: 74,894,561 (GRCm39) |
E102G |
probably damaging |
Het |
| Celsr1 |
A |
T |
15: 85,916,701 (GRCm39) |
V424E |
probably damaging |
Het |
| Ces1h |
T |
C |
8: 94,089,587 (GRCm39) |
T271A |
probably benign |
Het |
| Cfap44 |
T |
C |
16: 44,300,210 (GRCm39) |
I1738T |
probably damaging |
Het |
| Cntnap3 |
G |
A |
13: 64,935,583 (GRCm39) |
L427F |
probably damaging |
Het |
| Crybg3 |
T |
C |
16: 59,313,934 (GRCm39) |
|
probably benign |
Het |
| Dis3l2 |
A |
G |
1: 86,948,830 (GRCm39) |
D589G |
probably damaging |
Het |
| Dlg1 |
A |
G |
16: 31,484,401 (GRCm39) |
R10G |
probably damaging |
Het |
| Dnajc1 |
A |
C |
2: 18,311,752 (GRCm39) |
|
probably benign |
Het |
| Dpy19l2 |
T |
A |
9: 24,492,430 (GRCm39) |
T723S |
probably benign |
Het |
| Dsg3 |
A |
T |
18: 20,671,586 (GRCm39) |
N764Y |
probably damaging |
Het |
| Dst |
G |
T |
1: 34,301,141 (GRCm39) |
R3654L |
probably damaging |
Het |
| Dynlt5 |
T |
G |
4: 102,861,447 (GRCm39) |
L147R |
probably damaging |
Het |
| Evl |
C |
T |
12: 108,641,812 (GRCm39) |
T198I |
probably benign |
Het |
| Hectd2 |
A |
G |
19: 36,574,639 (GRCm39) |
|
probably benign |
Het |
| Hsp90b1 |
A |
G |
10: 86,537,609 (GRCm39) |
V232A |
possibly damaging |
Het |
| Igsf5 |
T |
C |
16: 96,174,072 (GRCm39) |
V34A |
probably benign |
Het |
| Ikzf2 |
A |
T |
1: 69,722,403 (GRCm39) |
N41K |
probably damaging |
Het |
| Kif6 |
G |
T |
17: 50,022,116 (GRCm39) |
A339S |
probably damaging |
Het |
| Klhl1 |
T |
A |
14: 96,477,790 (GRCm39) |
D426V |
probably damaging |
Het |
| Knop1 |
A |
C |
7: 118,452,557 (GRCm39) |
V54G |
probably damaging |
Het |
| Lama4 |
T |
A |
10: 38,906,444 (GRCm39) |
V270D |
probably benign |
Het |
| Lnx2 |
A |
G |
5: 146,961,160 (GRCm39) |
|
probably null |
Het |
| Lrp5 |
A |
T |
19: 3,652,333 (GRCm39) |
V1179E |
probably benign |
Het |
| Lrpprc |
T |
G |
17: 85,047,598 (GRCm39) |
D878A |
possibly damaging |
Het |
| Lrrc14 |
A |
T |
15: 76,599,510 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
A |
T |
17: 75,580,865 (GRCm39) |
D660V |
probably damaging |
Het |
| Macf1 |
C |
G |
4: 123,333,229 (GRCm39) |
|
probably null |
Het |
| Map3k21 |
C |
A |
8: 126,668,499 (GRCm39) |
T695K |
possibly damaging |
Het |
| Mcm3ap |
T |
A |
10: 76,324,253 (GRCm39) |
D895E |
possibly damaging |
Het |
| Mink1 |
T |
A |
11: 70,500,412 (GRCm39) |
D779E |
possibly damaging |
Het |
| Mkrn3 |
T |
C |
7: 62,069,467 (GRCm39) |
E108G |
probably damaging |
Het |
| Mtcl3 |
T |
C |
10: 29,019,644 (GRCm39) |
|
probably benign |
Het |
| Nars1 |
A |
G |
18: 64,643,556 (GRCm39) |
V141A |
possibly damaging |
Het |
| Or8g34 |
T |
C |
9: 39,373,633 (GRCm39) |
V299A |
probably benign |
Het |
| Pard3b |
T |
A |
1: 62,255,690 (GRCm39) |
Y572N |
probably benign |
Het |
| Pcnx3 |
A |
C |
19: 5,717,186 (GRCm39) |
M1599R |
possibly damaging |
Het |
| Pitx2 |
A |
G |
3: 129,012,169 (GRCm39) |
S180G |
probably damaging |
Het |
| Pkd2l1 |
A |
C |
19: 44,140,529 (GRCm39) |
V608G |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,396,361 (GRCm39) |
D1961G |
probably benign |
Het |
| Pxylp1 |
T |
C |
9: 96,721,179 (GRCm39) |
T109A |
probably damaging |
Het |
| Rai1 |
T |
A |
11: 60,078,419 (GRCm39) |
C828S |
probably damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,785,050 (GRCm39) |
T737S |
possibly damaging |
Het |
| Scn11a |
A |
G |
9: 119,640,190 (GRCm39) |
V235A |
probably damaging |
Het |
| Sfxn1 |
A |
T |
13: 54,245,306 (GRCm39) |
T134S |
probably benign |
Het |
| Skint1 |
A |
G |
4: 111,876,532 (GRCm39) |
Y151C |
probably benign |
Het |
| Slc11a1 |
G |
T |
1: 74,416,335 (GRCm39) |
W54L |
probably benign |
Het |
| Slc49a3 |
A |
T |
5: 108,593,351 (GRCm39) |
H162Q |
probably damaging |
Het |
| Synpo2l |
T |
A |
14: 20,716,003 (GRCm39) |
Q191L |
probably benign |
Het |
| Tank |
A |
G |
2: 61,483,913 (GRCm39) |
|
probably benign |
Het |
| Terb1 |
A |
T |
8: 105,215,117 (GRCm39) |
|
probably null |
Het |
| Trdc |
T |
C |
14: 54,381,768 (GRCm39) |
|
probably benign |
Het |
| Tsen34 |
A |
G |
7: 3,697,787 (GRCm39) |
I63V |
probably null |
Het |
| Ust |
T |
C |
10: 8,123,865 (GRCm39) |
H257R |
probably benign |
Het |
| Vmn2r6 |
T |
C |
3: 64,472,652 (GRCm39) |
Q23R |
probably benign |
Het |
| Wdr93 |
A |
T |
7: 79,423,179 (GRCm39) |
H481L |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,341,664 (GRCm39) |
T1302A |
possibly damaging |
Het |
| Zc3h6 |
C |
A |
2: 128,839,710 (GRCm39) |
Y174* |
probably null |
Het |
| Zcchc7 |
T |
G |
4: 44,931,244 (GRCm39) |
D144E |
possibly damaging |
Het |
| Zfp472 |
T |
A |
17: 33,196,481 (GRCm39) |
H185Q |
possibly damaging |
Het |
| Zfp523 |
C |
A |
17: 28,421,532 (GRCm39) |
P66H |
probably benign |
Het |
| Zfp712 |
A |
T |
13: 67,192,881 (GRCm39) |
L57Q |
probably damaging |
Het |
| Zik1 |
G |
A |
7: 10,224,498 (GRCm39) |
Q200* |
probably null |
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 |
|
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'- AGGAAATGTCTGGCTGTGTC -3'
(R):5'- CCTGTGTAACTTTTGGCTGC -3'
Sequencing Primer
(F):5'- TTTGCCAAGCACCTGTGAAG -3'
(R):5'- CTAATCCAGGCTGACTTTGAACTGG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation