Incidental Mutation 'R6645:Arid4b'
| ID |
526087 |
| 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 |
044766-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6645 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
14238334-14374188 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 14294737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 6
(E6D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106162
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039538]
[ENSMUST00000110533]
[ENSMUST00000110534]
[ENSMUST00000110536]
[ENSMUST00000129488]
[ENSMUST00000222928]
|
| AlphaFold |
A2CG63 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039538
AA Change: E6D
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000043889
Gene: ENSMUSG00000039219
AA Change: E6D
| 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: ENSMUST00000104614
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110533
AA Change: E6D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106162
Gene: ENSMUSG00000039219
AA Change: E6D
| 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: E6D
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000106163
Gene: ENSMUSG00000039219
AA Change: E6D
| 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: E6D
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000106165
Gene: ENSMUSG00000039219
AA Change: E6D
| 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 |
possibly damaging
Transcript: ENSMUST00000129488
AA Change: E6D
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000118687
Gene: ENSMUSG00000039219
AA Change: E6D
| 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: ENSMUST00000151182
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222928
AA Change: E6D
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155553
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anp32e |
T |
A |
3: 95,844,414 (GRCm39) |
F95I |
probably damaging |
Het |
| Arap1 |
A |
G |
7: 101,057,318 (GRCm39) |
K628R |
possibly damaging |
Het |
| Atxn10 |
G |
T |
15: 85,260,904 (GRCm39) |
|
probably null |
Het |
| Ccdc170 |
A |
G |
10: 4,510,974 (GRCm39) |
I678V |
possibly damaging |
Het |
| Ccdc18 |
T |
A |
5: 108,286,796 (GRCm39) |
V110D |
probably benign |
Het |
| Cep85l |
C |
T |
10: 53,177,768 (GRCm39) |
E322K |
probably benign |
Het |
| Cilp |
A |
T |
9: 65,186,587 (GRCm39) |
Y894F |
possibly damaging |
Het |
| Ddx4 |
A |
G |
13: 112,777,708 (GRCm39) |
S62P |
possibly damaging |
Het |
| Dph7 |
T |
C |
2: 24,855,663 (GRCm39) |
V154A |
probably benign |
Het |
| Ephb6 |
T |
C |
6: 41,594,206 (GRCm39) |
S579P |
probably benign |
Het |
| Fam53a |
G |
T |
5: 33,758,128 (GRCm39) |
Q332K |
probably benign |
Het |
| Fancm |
A |
G |
12: 65,152,874 (GRCm39) |
D1110G |
probably damaging |
Het |
| Fh1 |
A |
T |
1: 175,442,442 (GRCm39) |
V136E |
possibly damaging |
Het |
| Greb1 |
G |
T |
12: 16,748,580 (GRCm39) |
H1132Q |
probably benign |
Het |
| Jph1 |
A |
G |
1: 17,161,985 (GRCm39) |
S226P |
probably damaging |
Het |
| Kbtbd8 |
C |
T |
6: 95,103,730 (GRCm39) |
R460* |
probably null |
Het |
| Lama5 |
T |
A |
2: 179,821,463 (GRCm39) |
N3059Y |
probably damaging |
Het |
| Lipc |
G |
A |
9: 70,711,030 (GRCm39) |
T289I |
probably damaging |
Het |
| Lrrc2 |
T |
C |
9: 110,799,175 (GRCm39) |
W241R |
probably damaging |
Het |
| Mfn2 |
T |
A |
4: 147,979,069 (GRCm39) |
I88F |
probably damaging |
Het |
| Mms19 |
G |
C |
19: 41,943,630 (GRCm39) |
N366K |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,368,118 (GRCm39) |
T293A |
probably benign |
Het |
| Ndfip2 |
T |
A |
14: 105,529,707 (GRCm39) |
Y179N |
probably damaging |
Het |
| Notch4 |
A |
G |
17: 34,806,790 (GRCm39) |
D1909G |
probably benign |
Het |
| Obscn |
C |
T |
11: 58,976,088 (GRCm39) |
S2013N |
probably damaging |
Het |
| Oca2 |
G |
T |
7: 55,964,522 (GRCm39) |
A357S |
probably benign |
Het |
| Or8b43 |
T |
C |
9: 38,360,219 (GRCm39) |
L17S |
probably damaging |
Het |
| Or8g35 |
T |
A |
9: 39,381,562 (GRCm39) |
L153F |
probably benign |
Het |
| Pde7b |
C |
A |
10: 20,486,312 (GRCm39) |
|
probably null |
Het |
| Ppef2 |
T |
C |
5: 92,378,320 (GRCm39) |
N625S |
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,204,856 (GRCm39) |
L192Q |
probably damaging |
Het |
| Satb2 |
T |
C |
1: 56,836,166 (GRCm39) |
I542V |
possibly damaging |
Het |
| Sgpp2 |
C |
T |
1: 78,336,799 (GRCm39) |
T59M |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,749,235 (GRCm39) |
T782A |
possibly damaging |
Het |
| Slc13a4 |
G |
T |
6: 35,245,774 (GRCm39) |
Q624K |
probably benign |
Het |
| Slc9a3 |
T |
A |
13: 74,312,291 (GRCm39) |
H629Q |
probably damaging |
Het |
| Slitrk3 |
G |
T |
3: 72,957,194 (GRCm39) |
A526E |
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,722,198 (GRCm39) |
D994V |
probably benign |
Het |
| Sptssa |
T |
C |
12: 54,693,275 (GRCm39) |
Y53C |
probably damaging |
Het |
| Srsf10 |
T |
C |
4: 135,590,874 (GRCm39) |
S159P |
possibly damaging |
Het |
| Tbce |
T |
C |
13: 14,179,814 (GRCm39) |
T341A |
probably benign |
Het |
| Tdrd6 |
A |
G |
17: 43,935,423 (GRCm39) |
L1875P |
probably benign |
Het |
| Tkt |
G |
A |
14: 30,292,168 (GRCm39) |
G425R |
probably damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,511,326 (GRCm39) |
I17M |
possibly damaging |
Het |
| Ttc21b |
T |
C |
2: 66,066,721 (GRCm39) |
S311G |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 38,029,750 (GRCm39) |
Y492H |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,255,528 (GRCm39) |
I1535T |
probably damaging |
Het |
| Vmn2r17 |
A |
T |
5: 109,576,247 (GRCm39) |
N373Y |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,464,297 (GRCm39) |
V179E |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,910,451 (GRCm39) |
E3405G |
probably benign |
Het |
| Wac |
A |
T |
18: 7,973,523 (GRCm39) |
Q212H |
probably damaging |
Het |
| Washc4 |
C |
T |
10: 83,408,059 (GRCm39) |
R555* |
probably null |
Het |
| Zmat4 |
G |
A |
8: 24,287,417 (GRCm39) |
|
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 |
|
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 |
|
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'- GCGATCTTAGGGGCCATATGTG -3'
(R):5'- TATGGGCAACTTTTGGGATAGC -3'
Sequencing Primer
(F):5'- CTTAGGGGCCATATGTGTTTAATAG -3'
(R):5'- CAACTTTTGGGATAGCTTTGGAAATG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation