Incidental Mutation 'IGL02183:Arid4b'
| ID |
284339 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arid4b
|
| Ensembl Gene |
ENSMUSG00000039219 |
| Gene Name |
AT-rich interaction domain 4B |
| Synonyms |
6330417L24Rik, Rbp1l1, 6720480E17Rik, BRCAA1, SAP180, RBBP1L1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02183
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
14238334-14374188 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14344575 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 551
(E551G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106163
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039538]
[ENSMUST00000110533]
[ENSMUST00000110534]
[ENSMUST00000110536]
[ENSMUST00000129488]
|
| 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: ENSMUST00000110533
|
| SMART Domains |
Protein: ENSMUSP00000106162
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 |
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 |
possibly damaging
Transcript: ENSMUST00000110534
AA Change: E551G
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000106163
Gene: ENSMUSG00000039219
AA Change: E551G
| 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 |
probably benign
Transcript: ENSMUST00000129488
|
| SMART Domains |
Protein: ENSMUSP00000118687
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 |
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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221111
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace2 |
T |
A |
X: 162,960,465 (GRCm39) |
|
probably benign |
Het |
| Acsm4 |
A |
T |
7: 119,293,075 (GRCm39) |
|
probably null |
Het |
| Apcdd1 |
T |
C |
18: 63,084,925 (GRCm39) |
M374T |
probably damaging |
Het |
| Bag4 |
A |
T |
8: 26,258,058 (GRCm39) |
L423Q |
probably damaging |
Het |
| Celf1 |
C |
T |
2: 90,831,831 (GRCm39) |
P96S |
probably damaging |
Het |
| Cracdl |
G |
A |
1: 37,664,459 (GRCm39) |
P480S |
possibly damaging |
Het |
| Cry2 |
G |
A |
2: 92,243,384 (GRCm39) |
R486W |
probably damaging |
Het |
| Csn1s1 |
G |
A |
5: 87,825,477 (GRCm39) |
S228N |
possibly damaging |
Het |
| Ctnnd2 |
A |
G |
15: 31,020,886 (GRCm39) |
Y1124C |
probably damaging |
Het |
| Cyp2j7 |
T |
C |
4: 96,118,384 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,847,228 (GRCm39) |
C1695S |
possibly damaging |
Het |
| Elmo3 |
T |
C |
8: 106,034,955 (GRCm39) |
L415P |
probably benign |
Het |
| Entpd5 |
A |
G |
12: 84,427,154 (GRCm39) |
|
probably benign |
Het |
| Gpatch11 |
T |
C |
17: 79,149,660 (GRCm39) |
|
probably null |
Het |
| Gprin3 |
C |
A |
6: 59,330,147 (GRCm39) |
R720I |
possibly damaging |
Het |
| Gria4 |
T |
G |
9: 4,502,460 (GRCm39) |
T358P |
probably damaging |
Het |
| Hcn2 |
T |
C |
10: 79,560,647 (GRCm39) |
|
probably null |
Het |
| Hivep3 |
A |
G |
4: 119,989,221 (GRCm39) |
T1891A |
probably benign |
Het |
| Hmgcr |
A |
G |
13: 96,799,635 (GRCm39) |
V153A |
probably damaging |
Het |
| Ifnar1 |
T |
C |
16: 91,302,034 (GRCm39) |
V503A |
possibly damaging |
Het |
| Igf2r |
G |
A |
17: 12,917,403 (GRCm39) |
|
probably benign |
Het |
| Ighg2b |
A |
G |
12: 113,271,449 (GRCm39) |
S35P |
unknown |
Het |
| Jmy |
T |
C |
13: 93,635,750 (GRCm39) |
D22G |
possibly damaging |
Het |
| Kdm5b |
T |
C |
1: 134,552,669 (GRCm39) |
I1215T |
probably benign |
Het |
| Krt84 |
T |
C |
15: 101,440,791 (GRCm39) |
I134V |
unknown |
Het |
| Magi3 |
T |
A |
3: 103,992,663 (GRCm39) |
M270L |
probably benign |
Het |
| Maneal |
G |
A |
4: 124,754,209 (GRCm39) |
T198I |
probably benign |
Het |
| Map7d3 |
A |
G |
X: 55,867,591 (GRCm39) |
|
probably benign |
Het |
| Myh7 |
T |
A |
14: 55,212,188 (GRCm39) |
T1519S |
probably benign |
Het |
| Myo5a |
T |
C |
9: 75,074,518 (GRCm39) |
|
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,358,150 (GRCm39) |
S1029G |
probably benign |
Het |
| Or14j1 |
G |
T |
17: 38,146,304 (GRCm39) |
C138F |
probably damaging |
Het |
| Or4c11c |
A |
T |
2: 88,662,372 (GRCm39) |
I304F |
probably benign |
Het |
| Or4g16 |
T |
A |
2: 111,136,763 (GRCm39) |
V71E |
probably damaging |
Het |
| Or5d14 |
T |
C |
2: 87,880,333 (GRCm39) |
T212A |
possibly damaging |
Het |
| Or5k15 |
T |
A |
16: 58,710,184 (GRCm39) |
Q133L |
probably benign |
Het |
| Pald1 |
A |
T |
10: 61,182,920 (GRCm39) |
|
probably benign |
Het |
| Pan2 |
T |
A |
10: 128,144,944 (GRCm39) |
H230Q |
possibly damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,123,720 (GRCm39) |
I817V |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,153,705 (GRCm39) |
S2547P |
probably benign |
Het |
| Ppargc1b |
T |
A |
18: 61,442,167 (GRCm39) |
|
probably null |
Het |
| Prdm6 |
T |
C |
18: 53,597,749 (GRCm39) |
|
probably benign |
Het |
| Prr5l |
A |
T |
2: 101,602,465 (GRCm39) |
|
probably benign |
Het |
| Rab3gap2 |
T |
A |
1: 185,003,665 (GRCm39) |
L1020* |
probably null |
Het |
| Rhbdf1 |
T |
C |
11: 32,160,543 (GRCm39) |
H669R |
probably damaging |
Het |
| Rnf150 |
A |
T |
8: 83,730,234 (GRCm39) |
I255F |
probably damaging |
Het |
| Rnf17 |
T |
A |
14: 56,745,325 (GRCm39) |
D1360E |
probably null |
Het |
| Sag |
T |
C |
1: 87,756,197 (GRCm39) |
|
probably null |
Het |
| Scn2a |
C |
T |
2: 65,501,947 (GRCm39) |
T90I |
probably benign |
Het |
| Scn9a |
T |
A |
2: 66,314,955 (GRCm39) |
|
probably benign |
Het |
| Serpinb13 |
T |
C |
1: 106,926,640 (GRCm39) |
M212T |
probably damaging |
Het |
| Slc39a14 |
C |
T |
14: 70,544,134 (GRCm39) |
G484E |
possibly damaging |
Het |
| Slco1a1 |
A |
T |
6: 141,867,669 (GRCm39) |
|
probably benign |
Het |
| Slitrk3 |
A |
T |
3: 72,957,312 (GRCm39) |
Y487N |
probably damaging |
Het |
| Stkld1 |
T |
C |
2: 26,836,671 (GRCm39) |
M279T |
probably benign |
Het |
| Tmem161b |
T |
C |
13: 84,420,373 (GRCm39) |
Y125H |
probably damaging |
Het |
| Tmem71 |
A |
G |
15: 66,426,874 (GRCm39) |
|
probably benign |
Het |
| Ubxn7 |
T |
C |
16: 32,188,201 (GRCm39) |
F142L |
probably damaging |
Het |
| Vmn2r22 |
A |
G |
6: 123,614,963 (GRCm39) |
L209P |
probably damaging |
Het |
| Wdr73 |
A |
T |
7: 80,543,508 (GRCm39) |
W136R |
probably damaging |
Het |
| Wif1 |
C |
T |
10: 120,911,181 (GRCm39) |
R107C |
probably damaging |
Het |
| Ythdf2 |
G |
T |
4: 131,932,885 (GRCm39) |
L92M |
probably benign |
Het |
| Zfp53 |
T |
A |
17: 21,720,512 (GRCm39) |
I34N |
possibly damaging |
Het |
| Zpld2 |
A |
G |
4: 133,929,291 (GRCm39) |
L338S |
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 |
|
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation