Incidental Mutation 'R5439:Arid4b'
| ID |
428543 |
| 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 |
043004-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5439 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
14238334-14374188 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14362281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 915
(K915R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106165
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039538]
[ENSMUST00000110534]
[ENSMUST00000110536]
|
| AlphaFold |
A2CG63 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039538
AA Change: K915R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000043889
Gene: ENSMUSG00000039219
AA Change: K915R
| 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
AA Change: K1002R
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000106163
Gene: ENSMUSG00000039219
AA Change: K1002R
| 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 damaging
Transcript: ENSMUST00000110536
AA Change: K915R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106165
Gene: ENSMUSG00000039219
AA Change: K915R
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
A |
T |
4: 144,504,683 (GRCm39) |
I156N |
probably damaging |
Het |
| Abca1 |
C |
A |
4: 53,042,381 (GRCm39) |
R1897L |
possibly damaging |
Het |
| Ablim2 |
A |
G |
5: 36,015,170 (GRCm39) |
K461E |
probably damaging |
Het |
| Acss3 |
A |
T |
10: 106,773,008 (GRCm39) |
Y659* |
probably null |
Het |
| Actr8 |
T |
G |
14: 29,708,952 (GRCm39) |
L253R |
probably damaging |
Het |
| C3 |
T |
C |
17: 57,511,502 (GRCm39) |
E1560G |
probably benign |
Het |
| Cacna1c |
A |
T |
6: 118,631,333 (GRCm39) |
I1013N |
probably damaging |
Het |
| Cep83 |
G |
A |
10: 94,625,600 (GRCm39) |
R670H |
probably benign |
Het |
| Col19a1 |
T |
A |
1: 24,332,193 (GRCm39) |
D870V |
probably damaging |
Het |
| Ddr2 |
A |
G |
1: 169,832,298 (GRCm39) |
V164A |
possibly damaging |
Het |
| Dnaaf10 |
A |
G |
11: 17,162,031 (GRCm39) |
D23G |
possibly damaging |
Het |
| Donson |
A |
T |
16: 91,476,814 (GRCm39) |
V549E |
probably damaging |
Het |
| Egflam |
C |
T |
15: 7,254,144 (GRCm39) |
G824R |
probably damaging |
Het |
| Extl3 |
A |
G |
14: 65,292,075 (GRCm39) |
F916S |
probably damaging |
Het |
| Fam110c |
A |
G |
12: 31,124,406 (GRCm39) |
M123V |
unknown |
Het |
| G3bp1 |
A |
T |
11: 55,388,813 (GRCm39) |
I342F |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,720,870 (GRCm39) |
N409D |
probably benign |
Het |
| Grin2b |
C |
T |
6: 135,713,304 (GRCm39) |
G859D |
probably damaging |
Het |
| Hspb1 |
A |
T |
5: 135,918,186 (GRCm39) |
T178S |
probably benign |
Het |
| Iigp1 |
A |
G |
18: 60,523,329 (GRCm39) |
Y149C |
probably damaging |
Het |
| Il22 |
G |
T |
10: 118,045,366 (GRCm39) |
G159* |
probably null |
Het |
| Jcad |
T |
C |
18: 4,675,790 (GRCm39) |
F1184S |
probably damaging |
Het |
| Kcnj2 |
G |
T |
11: 110,963,057 (GRCm39) |
V150L |
probably damaging |
Het |
| Kifc1 |
C |
T |
17: 34,105,639 (GRCm39) |
R56Q |
probably damaging |
Het |
| Lce1h |
A |
G |
3: 92,671,027 (GRCm39) |
S42P |
unknown |
Het |
| Lrp4 |
C |
A |
2: 91,327,418 (GRCm39) |
D1471E |
probably benign |
Het |
| Lrrc3 |
C |
A |
10: 77,737,299 (GRCm39) |
V46L |
probably benign |
Het |
| Mcf2l |
G |
A |
8: 12,976,646 (GRCm39) |
A2T |
possibly damaging |
Het |
| Med12l |
G |
A |
3: 59,170,634 (GRCm39) |
C1673Y |
probably null |
Het |
| Nckap1 |
T |
C |
2: 80,343,034 (GRCm39) |
E955G |
possibly damaging |
Het |
| Ndufs3 |
T |
A |
2: 90,732,690 (GRCm39) |
|
probably null |
Het |
| Nkx6-1 |
A |
G |
5: 101,809,698 (GRCm39) |
|
probably null |
Het |
| Obscn |
C |
A |
11: 58,890,954 (GRCm39) |
E1713* |
probably null |
Het |
| Or10ak12 |
G |
A |
4: 118,666,560 (GRCm39) |
T167I |
possibly damaging |
Het |
| Or10g1b |
A |
G |
14: 52,627,582 (GRCm39) |
F216S |
probably damaging |
Het |
| Or10n1 |
A |
G |
9: 39,524,916 (GRCm39) |
T18A |
probably benign |
Het |
| Or2n1 |
T |
A |
17: 38,486,917 (GRCm39) |
|
probably null |
Het |
| Or6n1 |
A |
G |
1: 173,917,541 (GRCm39) |
R312G |
probably benign |
Het |
| Or7e165 |
A |
C |
9: 19,695,161 (GRCm39) |
H244P |
probably damaging |
Het |
| Or8c15 |
A |
G |
9: 38,121,050 (GRCm39) |
T234A |
probably benign |
Het |
| Osbpl5 |
A |
G |
7: 143,295,433 (GRCm39) |
F10L |
possibly damaging |
Het |
| Plvap |
A |
C |
8: 71,964,095 (GRCm39) |
I89S |
probably damaging |
Het |
| Ppp2r2a |
A |
G |
14: 67,259,772 (GRCm39) |
V308A |
possibly damaging |
Het |
| Ppp2r5e |
T |
C |
12: 75,540,250 (GRCm39) |
S132G |
probably benign |
Het |
| Pum3 |
G |
T |
19: 27,389,659 (GRCm39) |
Q398K |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,184,430 (GRCm39) |
T1526A |
probably benign |
Het |
| Sh3tc2 |
T |
A |
18: 62,122,704 (GRCm39) |
Y488* |
probably null |
Het |
| Spmip7 |
A |
T |
11: 11,440,244 (GRCm39) |
R8S |
possibly damaging |
Het |
| Sqle |
A |
G |
15: 59,202,753 (GRCm39) |
Y537C |
probably benign |
Het |
| Sult2a8 |
T |
G |
7: 14,159,439 (GRCm39) |
K60T |
probably damaging |
Het |
| Tex15 |
T |
C |
8: 34,064,199 (GRCm39) |
S1210P |
possibly damaging |
Het |
| Thumpd3 |
A |
G |
6: 113,043,825 (GRCm39) |
|
silent |
Het |
| Timeless |
A |
G |
10: 128,077,604 (GRCm39) |
D228G |
probably damaging |
Het |
| Trim31 |
A |
T |
17: 37,216,797 (GRCm39) |
|
probably null |
Het |
| Ttc39c |
A |
T |
18: 12,828,428 (GRCm39) |
D196V |
possibly damaging |
Het |
| Wbp4 |
C |
A |
14: 79,709,837 (GRCm39) |
V133L |
possibly damaging |
Het |
| Zfp354c |
G |
T |
11: 50,706,597 (GRCm39) |
D159E |
probably benign |
Het |
| Zfp940 |
C |
A |
7: 29,544,858 (GRCm39) |
D350Y |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTCAAGTATTCAGGGACAGTGG -3'
(R):5'- AATGCTTCGAACCTCTTCCTGG -3'
Sequencing Primer
(F):5'- CTAAAGGAGCTTTTCTCTGACTCGG -3'
(R):5'- CGAACCTCTTCCTGGTTTGGAG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation