Incidental Mutation 'R2290:Arid4a'
| ID |
244289 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arid4a
|
| Ensembl Gene |
ENSMUSG00000048118 |
| Gene Name |
AT-rich interaction domain 4A |
| Synonyms |
A630067N03Rik, Rbbp1 |
| MMRRC Submission |
040289-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2290 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
71062764-71145366 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 71108315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 40
(G40V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121319
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046305]
[ENSMUST00000135709]
|
| AlphaFold |
F8VPQ2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046305
AA Change: G362V
PolyPhen 2
Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000035512
Gene: ENSMUSG00000048118
AA Change: G362V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
43 |
N/A |
INTRINSIC |
|
TUDOR
|
58 |
114 |
3.6e-12 |
SMART |
|
low complexity region
|
152 |
167 |
N/A |
INTRINSIC |
|
Pfam:RBB1NT
|
170 |
262 |
4e-32 |
PFAM |
|
ARID
|
306 |
397 |
6.7e-37 |
SMART |
|
BRIGHT
|
310 |
402 |
2.3e-40 |
SMART |
|
low complexity region
|
411 |
422 |
N/A |
INTRINSIC |
|
CHROMO
|
483 |
652 |
6.8e-6 |
SMART |
|
low complexity region
|
690 |
707 |
N/A |
INTRINSIC |
|
low complexity region
|
965 |
976 |
N/A |
INTRINSIC |
|
low complexity region
|
991 |
1003 |
N/A |
INTRINSIC |
|
coiled coil region
|
1185 |
1224 |
N/A |
INTRINSIC |
|
low complexity region
|
1229 |
1252 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134718
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135709
AA Change: G40V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000121319
Gene: ENSMUSG00000048118
AA Change: G40V
| Domain | Start | End | E-Value | Type |
|---|
|
ARID
|
1 |
75 |
1.02e-16 |
SMART |
|
BRIGHT
|
1 |
80 |
2.05e-23 |
SMART |
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
CHROMO
|
161 |
330 |
1.08e-3 |
SMART |
|
low complexity region
|
368 |
385 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1381 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (73/73) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB represses transcription by recruiting the encoded protein. This protein, in turn, serves as a bridging molecule to recruit HDACs and, in addition, provides a second HDAC-independent repression function. The encoded protein possesses transcriptional repression activity. Multiple alternatively spliced transcripts have been observed for this gene, although not all transcript variants have been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered DNA methylation patterns, disrupted hematopoiesis and a portion develop acute myeloid leukemia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
T |
C |
10: 83,363,177 (GRCm39) |
D62G |
probably damaging |
Het |
| Ambp |
T |
C |
4: 63,061,924 (GRCm39) |
Y335C |
probably damaging |
Het |
| Asb13 |
G |
A |
13: 3,699,418 (GRCm39) |
G206D |
probably damaging |
Het |
| Ccdc7b |
A |
G |
8: 129,857,587 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
A |
T |
8: 123,586,056 (GRCm39) |
N145I |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,720,423 (GRCm39) |
I2565T |
probably damaging |
Het |
| Cfap43 |
A |
T |
19: 47,761,574 (GRCm39) |
M840K |
probably damaging |
Het |
| Clip4 |
T |
C |
17: 72,117,948 (GRCm39) |
V331A |
possibly damaging |
Het |
| Cnnm1 |
A |
G |
19: 43,479,941 (GRCm39) |
T829A |
probably benign |
Het |
| Col24a1 |
G |
A |
3: 145,218,950 (GRCm39) |
G1457E |
probably damaging |
Het |
| D6Ertd527e |
A |
G |
6: 87,088,527 (GRCm39) |
N230S |
unknown |
Het |
| Dll1 |
T |
C |
17: 15,595,010 (GRCm39) |
D89G |
probably benign |
Het |
| Dst |
T |
A |
1: 34,268,281 (GRCm39) |
V2901E |
probably damaging |
Het |
| Dvl1 |
G |
A |
4: 155,932,273 (GRCm39) |
V28I |
possibly damaging |
Het |
| Efl1 |
A |
T |
7: 82,426,878 (GRCm39) |
K1125N |
probably damaging |
Het |
| Efr3a |
T |
A |
15: 65,721,688 (GRCm39) |
F437L |
probably benign |
Het |
| Eqtn |
GTTCTTCTTC |
GTTCTTC |
4: 94,815,179 (GRCm39) |
|
probably benign |
Het |
| Ermp1 |
T |
C |
19: 29,601,178 (GRCm39) |
D523G |
probably damaging |
Het |
| Gm38999 |
A |
G |
7: 43,077,123 (GRCm39) |
E5G |
probably benign |
Het |
| Gm5828 |
C |
T |
1: 16,838,568 (GRCm39) |
|
noncoding transcript |
Het |
| Gnas |
T |
C |
2: 174,141,803 (GRCm39) |
F717L |
probably benign |
Het |
| H6pd |
T |
A |
4: 150,066,338 (GRCm39) |
S683C |
probably damaging |
Het |
| Il23r |
G |
A |
6: 67,400,845 (GRCm39) |
T495I |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,324,326 (GRCm39) |
N135D |
probably damaging |
Het |
| Kcns2 |
T |
A |
15: 34,838,655 (GRCm39) |
L6Q |
possibly damaging |
Het |
| Khdrbs3 |
C |
T |
15: 68,901,610 (GRCm39) |
R132C |
probably damaging |
Het |
| Kif2b |
A |
G |
11: 91,466,522 (GRCm39) |
V587A |
probably benign |
Het |
| Kng1 |
A |
T |
16: 22,897,875 (GRCm39) |
H425L |
possibly damaging |
Het |
| Letm1 |
A |
AG |
5: 33,926,859 (GRCm39) |
|
probably null |
Het |
| Lrrc8e |
T |
C |
8: 4,281,770 (GRCm39) |
M35T |
probably damaging |
Het |
| Med12l |
A |
G |
3: 59,152,359 (GRCm39) |
N1048S |
probably damaging |
Het |
| Mex3c |
A |
C |
18: 73,723,764 (GRCm39) |
N619T |
probably damaging |
Het |
| Mfsd4b1 |
G |
A |
10: 39,879,327 (GRCm39) |
T190I |
probably damaging |
Het |
| Ncam1 |
A |
G |
9: 49,434,951 (GRCm39) |
|
probably benign |
Het |
| Nlrp6 |
G |
A |
7: 140,502,076 (GRCm39) |
G133S |
probably damaging |
Het |
| Oplah |
A |
G |
15: 76,186,925 (GRCm39) |
V630A |
probably benign |
Het |
| Or1e26 |
G |
T |
11: 73,479,745 (GRCm39) |
A273D |
probably benign |
Het |
| Or2y1 |
A |
G |
11: 49,385,857 (GRCm39) |
M166V |
probably benign |
Het |
| Or5ak24 |
C |
T |
2: 85,260,544 (GRCm39) |
V210M |
possibly damaging |
Het |
| Or8g36 |
A |
G |
9: 39,422,974 (GRCm39) |
L14P |
possibly damaging |
Het |
| Pcnx2 |
A |
T |
8: 126,604,334 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,391,646 (GRCm39) |
T1571S |
probably benign |
Het |
| Pramel13 |
T |
A |
4: 144,121,269 (GRCm39) |
T252S |
probably benign |
Het |
| Pramel13 |
G |
T |
4: 144,121,692 (GRCm39) |
H111N |
probably benign |
Het |
| Prr22 |
T |
G |
17: 57,078,884 (GRCm39) |
F346V |
probably benign |
Het |
| Prr30 |
T |
C |
14: 101,436,211 (GRCm39) |
N117S |
possibly damaging |
Het |
| Ptgfrn |
A |
G |
3: 100,984,677 (GRCm39) |
S172P |
possibly damaging |
Het |
| Ptprc |
C |
T |
1: 138,038,926 (GRCm39) |
V364I |
probably benign |
Het |
| Ptprz1 |
T |
C |
6: 23,000,990 (GRCm39) |
S1027P |
probably damaging |
Het |
| Rinl |
T |
C |
7: 28,491,696 (GRCm39) |
V83A |
probably benign |
Het |
| Ros1 |
A |
T |
10: 51,994,477 (GRCm39) |
S1268T |
probably damaging |
Het |
| Scly |
T |
C |
1: 91,226,172 (GRCm39) |
|
probably null |
Het |
| Slc25a1 |
C |
T |
16: 17,743,712 (GRCm39) |
V186M |
possibly damaging |
Het |
| Stk36 |
T |
G |
1: 74,665,303 (GRCm39) |
|
probably benign |
Het |
| Syn2 |
A |
G |
6: 115,251,190 (GRCm39) |
T449A |
possibly damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,150,881 (GRCm39) |
D309G |
probably damaging |
Het |
| Tent4b |
T |
C |
8: 88,978,603 (GRCm39) |
S435P |
probably damaging |
Het |
| Tns2 |
T |
A |
15: 102,020,458 (GRCm39) |
Y775N |
probably damaging |
Het |
| Tril |
G |
T |
6: 53,795,012 (GRCm39) |
R737S |
probably damaging |
Het |
| Ttl |
G |
A |
2: 128,923,190 (GRCm39) |
G177D |
possibly damaging |
Het |
| Twf1 |
A |
G |
15: 94,484,400 (GRCm39) |
S41P |
probably damaging |
Het |
| Unc79 |
C |
T |
12: 103,112,625 (GRCm39) |
T2174M |
probably damaging |
Het |
| Vangl2 |
T |
A |
1: 171,836,113 (GRCm39) |
K340* |
probably null |
Het |
| Vmn2r72 |
T |
A |
7: 85,387,549 (GRCm39) |
T672S |
probably damaging |
Het |
| Vwa7 |
A |
G |
17: 35,236,187 (GRCm39) |
D47G |
probably damaging |
Het |
| Zc3h12d |
A |
G |
10: 7,743,223 (GRCm39) |
H331R |
probably benign |
Het |
| Zfa-ps |
T |
C |
10: 52,421,112 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp141 |
A |
T |
7: 42,124,649 (GRCm39) |
C608S |
probably damaging |
Het |
| Zfp422 |
A |
G |
6: 116,603,603 (GRCm39) |
I132T |
possibly damaging |
Het |
| Zfp652 |
A |
G |
11: 95,640,849 (GRCm39) |
Y258C |
possibly damaging |
Het |
|
| Other mutations in Arid4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00479:Arid4a
|
APN |
12 |
71,119,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00546:Arid4a
|
APN |
12 |
71,122,445 (GRCm39) |
missense |
probably benign |
|
|
IGL00553:Arid4a
|
APN |
12 |
71,122,751 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL00708:Arid4a
|
APN |
12 |
71,119,502 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00847:Arid4a
|
APN |
12 |
71,122,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01112:Arid4a
|
APN |
12 |
71,119,507 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01456:Arid4a
|
APN |
12 |
71,114,036 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01505:Arid4a
|
APN |
12 |
71,083,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01555:Arid4a
|
APN |
12 |
71,108,301 (GRCm39) |
splice site |
probably benign |
|
|
IGL01631:Arid4a
|
APN |
12 |
71,069,036 (GRCm39) |
splice site |
probably benign |
|
|
IGL02958:Arid4a
|
APN |
12 |
71,144,337 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03087:Arid4a
|
APN |
12 |
71,122,019 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03111:Arid4a
|
APN |
12 |
71,086,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03234:Arid4a
|
APN |
12 |
71,091,834 (GRCm39) |
missense |
probably benign |
0.34 |
|
After_8
|
UTSW |
12 |
71,070,272 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
ariano
|
UTSW |
12 |
71,116,634 (GRCm39) |
nonsense |
probably null |
|
|
Dusty
|
UTSW |
12 |
71,106,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
guava
|
UTSW |
12 |
71,119,406 (GRCm39) |
missense |
probably damaging |
0.99 |
|
limoncello
|
UTSW |
12 |
71,114,115 (GRCm39) |
splice site |
probably null |
|
|
Sahara
|
UTSW |
12 |
71,106,889 (GRCm39) |
nonsense |
probably null |
|
|
Under_8
|
UTSW |
12 |
71,109,980 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0047:Arid4a
|
UTSW |
12 |
71,122,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0047:Arid4a
|
UTSW |
12 |
71,122,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0270:Arid4a
|
UTSW |
12 |
71,119,406 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0310:Arid4a
|
UTSW |
12 |
71,122,604 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0504:Arid4a
|
UTSW |
12 |
71,093,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1061:Arid4a
|
UTSW |
12 |
71,121,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1087:Arid4a
|
UTSW |
12 |
71,122,112 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1169:Arid4a
|
UTSW |
12 |
71,122,112 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1171:Arid4a
|
UTSW |
12 |
71,122,112 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1531:Arid4a
|
UTSW |
12 |
71,122,779 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1674:Arid4a
|
UTSW |
12 |
71,122,112 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1676:Arid4a
|
UTSW |
12 |
71,122,112 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1768:Arid4a
|
UTSW |
12 |
71,122,112 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1833:Arid4a
|
UTSW |
12 |
71,122,240 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1878:Arid4a
|
UTSW |
12 |
71,134,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2292:Arid4a
|
UTSW |
12 |
71,108,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2871:Arid4a
|
UTSW |
12 |
71,069,034 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2871:Arid4a
|
UTSW |
12 |
71,069,034 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3411:Arid4a
|
UTSW |
12 |
71,108,299 (GRCm39) |
splice site |
probably benign |
|
|
R3768:Arid4a
|
UTSW |
12 |
71,113,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3838:Arid4a
|
UTSW |
12 |
71,122,559 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4320:Arid4a
|
UTSW |
12 |
71,116,769 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4589:Arid4a
|
UTSW |
12 |
71,116,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4829:Arid4a
|
UTSW |
12 |
71,070,272 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4862:Arid4a
|
UTSW |
12 |
71,122,721 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4952:Arid4a
|
UTSW |
12 |
71,070,299 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5072:Arid4a
|
UTSW |
12 |
71,091,853 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5423:Arid4a
|
UTSW |
12 |
71,116,634 (GRCm39) |
nonsense |
probably null |
|
|
R5767:Arid4a
|
UTSW |
12 |
71,106,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5911:Arid4a
|
UTSW |
12 |
71,116,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5952:Arid4a
|
UTSW |
12 |
71,109,980 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6088:Arid4a
|
UTSW |
12 |
71,069,010 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6235:Arid4a
|
UTSW |
12 |
71,116,546 (GRCm39) |
splice site |
probably null |
|
|
R6277:Arid4a
|
UTSW |
12 |
71,086,665 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6455:Arid4a
|
UTSW |
12 |
71,121,862 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6523:Arid4a
|
UTSW |
12 |
71,114,115 (GRCm39) |
splice site |
probably null |
|
|
R6701:Arid4a
|
UTSW |
12 |
71,134,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6812:Arid4a
|
UTSW |
12 |
71,094,037 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6815:Arid4a
|
UTSW |
12 |
71,063,856 (GRCm39) |
splice site |
probably null |
|
|
R6837:Arid4a
|
UTSW |
12 |
71,122,289 (GRCm39) |
missense |
probably benign |
|
|
R6858:Arid4a
|
UTSW |
12 |
71,070,283 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6895:Arid4a
|
UTSW |
12 |
71,110,076 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6901:Arid4a
|
UTSW |
12 |
71,113,911 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6905:Arid4a
|
UTSW |
12 |
71,108,318 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7387:Arid4a
|
UTSW |
12 |
71,134,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7570:Arid4a
|
UTSW |
12 |
71,109,916 (GRCm39) |
nonsense |
probably null |
|
|
R7772:Arid4a
|
UTSW |
12 |
71,108,363 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8194:Arid4a
|
UTSW |
12 |
71,106,889 (GRCm39) |
nonsense |
probably null |
|
|
R8206:Arid4a
|
UTSW |
12 |
71,133,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8552:Arid4a
|
UTSW |
12 |
71,106,849 (GRCm39) |
missense |
probably benign |
|
|
R8696:Arid4a
|
UTSW |
12 |
71,110,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9015:Arid4a
|
UTSW |
12 |
71,122,168 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9109:Arid4a
|
UTSW |
12 |
71,122,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9450:Arid4a
|
UTSW |
12 |
71,119,374 (GRCm39) |
missense |
|
|
|
Z1176:Arid4a
|
UTSW |
12 |
71,086,694 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1177:Arid4a
|
UTSW |
12 |
71,122,411 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGGCAATGTAAGTATACCGT -3'
(R):5'- GGCAGGAGGGGTACTGTTCA -3'
Sequencing Primer
(F):5'- GCAATGTAAGTATACCGTTGCTTTAG -3'
(R):5'- CTGCAATTAAAGGCCTGTGC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation