Incidental Mutation 'R6804:Arid4b'
| ID |
533498 |
| 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 |
044917-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6804 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
14238334-14374188 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 14303792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 72
(D72E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118687
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039538]
[ENSMUST00000110533]
[ENSMUST00000110534]
[ENSMUST00000110536]
[ENSMUST00000129488]
[ENSMUST00000222928]
|
| AlphaFold |
A2CG63 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039538
AA Change: D72E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000043889
Gene: ENSMUSG00000039219
AA Change: D72E
| 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: D72E
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000106162
Gene: ENSMUSG00000039219
AA Change: D72E
| 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: D72E
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106163
Gene: ENSMUSG00000039219
AA Change: D72E
| 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: D72E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000106165
Gene: ENSMUSG00000039219
AA Change: D72E
| 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: D72E
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000118687
Gene: ENSMUSG00000039219
AA Change: D72E
| 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 |
probably benign
Transcript: ENSMUST00000222928
AA Change: D72E
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.9%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
A |
T |
1: 58,343,757 (GRCm39) |
Q480L |
probably benign |
Het |
| Avil |
C |
T |
10: 126,844,175 (GRCm39) |
Q245* |
probably null |
Het |
| BC048679 |
T |
C |
7: 81,146,612 (GRCm39) |
S2G |
possibly damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Cacna1d |
T |
C |
14: 29,773,622 (GRCm39) |
T1723A |
probably benign |
Het |
| Cfap91 |
T |
C |
16: 38,152,604 (GRCm39) |
D202G |
probably damaging |
Het |
| Chil3 |
A |
T |
3: 106,071,495 (GRCm39) |
Y56* |
probably null |
Het |
| Clec2i |
A |
G |
6: 128,872,384 (GRCm39) |
E172G |
probably damaging |
Het |
| Crybg1 |
C |
T |
10: 43,842,337 (GRCm39) |
D1785N |
probably damaging |
Het |
| Csmd1 |
G |
A |
8: 16,087,260 (GRCm39) |
R1930W |
probably damaging |
Het |
| D430041D05Rik |
A |
C |
2: 103,979,371 (GRCm39) |
S2019A |
possibly damaging |
Het |
| Ep300 |
T |
A |
15: 81,525,512 (GRCm39) |
Y1445* |
probably null |
Het |
| Gne |
A |
G |
4: 44,060,210 (GRCm39) |
I61T |
probably damaging |
Het |
| Ifit3b |
A |
T |
19: 34,588,947 (GRCm39) |
Q41L |
possibly damaging |
Het |
| Kplce |
T |
C |
3: 92,776,354 (GRCm39) |
T110A |
possibly damaging |
Het |
| Llgl2 |
A |
G |
11: 115,734,141 (GRCm39) |
|
probably null |
Het |
| Mast3 |
T |
C |
8: 71,239,376 (GRCm39) |
I417V |
probably benign |
Het |
| Mettl21e |
T |
A |
1: 44,257,295 (GRCm39) |
I8F |
probably benign |
Het |
| Ms4a2 |
A |
G |
19: 11,594,899 (GRCm39) |
Y183H |
probably damaging |
Het |
| Naip6 |
C |
G |
13: 100,435,675 (GRCm39) |
E949D |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,994,874 (GRCm39) |
T181A |
probably benign |
Het |
| Nrg1 |
T |
C |
8: 32,311,292 (GRCm39) |
R476G |
probably damaging |
Het |
| Olfm3 |
A |
T |
3: 114,916,328 (GRCm39) |
Y400F |
probably benign |
Het |
| Or12d2 |
A |
G |
17: 37,625,021 (GRCm39) |
S85P |
probably damaging |
Het |
| Or1e33 |
A |
G |
11: 73,738,240 (GRCm39) |
V237A |
probably benign |
Het |
| Or2a25 |
A |
T |
6: 42,888,852 (GRCm39) |
T132S |
probably benign |
Het |
| Or2y1e |
A |
G |
11: 49,218,808 (GRCm39) |
D190G |
probably benign |
Het |
| Pappa2 |
T |
C |
1: 158,764,438 (GRCm39) |
S358G |
probably benign |
Het |
| Pde4dip |
C |
A |
3: 97,700,564 (GRCm39) |
E259* |
probably null |
Het |
| Phlpp2 |
T |
A |
8: 110,655,197 (GRCm39) |
L664Q |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,390,635 (GRCm39) |
K1262R |
possibly damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Saal1 |
GGCTTGCACGCCGT |
G |
7: 46,349,064 (GRCm39) |
|
probably null |
Het |
| Sec31a |
C |
T |
5: 100,530,671 (GRCm39) |
V701I |
probably benign |
Het |
| Smarca2 |
A |
T |
19: 26,729,286 (GRCm39) |
R12S |
possibly damaging |
Het |
| Spocd1 |
T |
A |
4: 129,847,423 (GRCm39) |
C537* |
probably null |
Het |
| Syt14 |
T |
C |
1: 192,584,161 (GRCm39) |
E701G |
probably damaging |
Het |
| Taf3 |
T |
C |
2: 9,923,028 (GRCm39) |
Y32C |
possibly damaging |
Het |
| Tfeb |
T |
C |
17: 48,100,735 (GRCm39) |
|
probably null |
Het |
| Ttc13 |
C |
A |
8: 125,426,426 (GRCm39) |
R168L |
probably damaging |
Het |
| Vmn2r11 |
T |
A |
5: 109,201,350 (GRCm39) |
N385Y |
probably damaging |
Het |
| Vmn2r54 |
T |
C |
7: 12,363,792 (GRCm39) |
K367R |
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 |
|
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 |
|
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'- CAGCTGCCTTGCCCTGAT -3'
(R):5'- TGGAAGATAACCAGTAATGGTAACA -3'
Sequencing Primer
(F):5'- AGCTGCACACCTAGATTGG -3'
(R):5'- CAGGAAATCTAGCTTTATCTGC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation