Incidental Mutation 'R2867:Arid3c'
ID |
266382 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arid3c
|
Ensembl Gene |
ENSMUSG00000066224 |
Gene Name |
AT-rich interaction domain 3C |
Synonyms |
OTTMUSG00000006683 |
MMRRC Submission |
040456-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.283)
|
Stock # |
R2867 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
41723836-41731142 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 41725958 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 215
(D215G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127678
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030158]
[ENSMUST00000084698]
[ENSMUST00000108041]
[ENSMUST00000150809]
[ENSMUST00000159930]
[ENSMUST00000171251]
[ENSMUST00000171641]
|
AlphaFold |
A6PWV5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030158
|
SMART Domains |
Protein: ENSMUSP00000030158 Gene: ENSMUSG00000028447
Domain | Start | End | E-Value | Type |
Pfam:Dynactin_p22
|
6 |
170 |
2.8e-61 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000084698
AA Change: D215G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000081748 Gene: ENSMUSG00000066224 AA Change: D215G
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
low complexity region
|
18 |
32 |
N/A |
INTRINSIC |
low complexity region
|
41 |
71 |
N/A |
INTRINSIC |
ARID
|
107 |
198 |
5.47e-35 |
SMART |
BRIGHT
|
111 |
203 |
3.7e-39 |
SMART |
low complexity region
|
235 |
257 |
N/A |
INTRINSIC |
Blast:ARID
|
283 |
327 |
2e-12 |
BLAST |
low complexity region
|
387 |
409 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108041
|
SMART Domains |
Protein: ENSMUSP00000103676 Gene: ENSMUSG00000073889
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
IG
|
33 |
108 |
5.75e-4 |
SMART |
FN3
|
112 |
204 |
2.18e-2 |
SMART |
FN3
|
218 |
304 |
4.93e-1 |
SMART |
low complexity region
|
354 |
365 |
N/A |
INTRINSIC |
transmembrane domain
|
369 |
391 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147120
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000150809
AA Change: D215G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000116411 Gene: ENSMUSG00000066224 AA Change: D215G
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
low complexity region
|
18 |
32 |
N/A |
INTRINSIC |
low complexity region
|
41 |
71 |
N/A |
INTRINSIC |
ARID
|
107 |
198 |
5.47e-35 |
SMART |
BRIGHT
|
111 |
203 |
3.7e-39 |
SMART |
low complexity region
|
235 |
257 |
N/A |
INTRINSIC |
Blast:ARID
|
283 |
327 |
2e-12 |
BLAST |
low complexity region
|
357 |
379 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159930
|
SMART Domains |
Protein: ENSMUSP00000124563 Gene: ENSMUSG00000066224
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
low complexity region
|
18 |
32 |
N/A |
INTRINSIC |
low complexity region
|
41 |
71 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171251
AA Change: D215G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000127678 Gene: ENSMUSG00000066224 AA Change: D215G
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
low complexity region
|
18 |
32 |
N/A |
INTRINSIC |
low complexity region
|
41 |
71 |
N/A |
INTRINSIC |
ARID
|
107 |
198 |
5.47e-35 |
SMART |
BRIGHT
|
111 |
203 |
3.7e-39 |
SMART |
low complexity region
|
235 |
257 |
N/A |
INTRINSIC |
Blast:ARID
|
283 |
327 |
2e-12 |
BLAST |
low complexity region
|
387 |
409 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171641
|
SMART Domains |
Protein: ENSMUSP00000130988 Gene: ENSMUSG00000028447
Domain | Start | End | E-Value | Type |
Pfam:Dynactin_p22
|
1 |
149 |
1.4e-63 |
PFAM |
|
Meta Mutation Damage Score |
0.4820 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
97% (30/31) |
MGI Phenotype |
FUNCTION: This gene is a member of the ARID (AT-rich interaction domain) family of proteins. The ARID domain is a helix-turn-helix motif-based DNA-binding domain. ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adss2 |
T |
C |
1: 177,595,378 (GRCm39) |
|
probably null |
Het |
Birc2 |
A |
C |
9: 7,834,478 (GRCm39) |
M1R |
probably null |
Het |
Caprin2 |
G |
A |
6: 148,747,738 (GRCm39) |
|
silent |
Het |
Cog4 |
C |
A |
8: 111,593,291 (GRCm39) |
|
probably benign |
Het |
Cpz |
T |
C |
5: 35,659,705 (GRCm39) |
K647E |
probably benign |
Het |
Ctnna2 |
T |
C |
6: 77,091,905 (GRCm39) |
|
probably benign |
Het |
Cyp7a1 |
T |
C |
4: 6,272,493 (GRCm39) |
E240G |
probably damaging |
Het |
Dnaaf11 |
A |
T |
15: 66,310,257 (GRCm39) |
L337* |
probably null |
Het |
Efhc2 |
A |
T |
X: 17,027,484 (GRCm39) |
|
probably benign |
Homo |
Epha6 |
T |
C |
16: 59,780,659 (GRCm39) |
|
probably null |
Het |
Evc |
T |
A |
5: 37,473,619 (GRCm39) |
|
probably benign |
Het |
Fbf1 |
A |
G |
11: 116,052,274 (GRCm39) |
|
probably benign |
Het |
Grin2b |
A |
G |
6: 135,710,637 (GRCm39) |
F970L |
probably damaging |
Het |
Gtf3c4 |
A |
G |
2: 28,729,916 (GRCm39) |
|
probably benign |
Het |
Kcnma1 |
A |
T |
14: 23,423,275 (GRCm39) |
N682K |
probably benign |
Het |
Kif20b |
A |
G |
19: 34,917,528 (GRCm39) |
E631G |
probably damaging |
Het |
Lctl |
T |
C |
9: 64,045,150 (GRCm39) |
S550P |
probably benign |
Het |
Mapk10 |
C |
T |
5: 103,186,548 (GRCm39) |
D25N |
probably benign |
Het |
Mgst2 |
A |
G |
3: 51,571,954 (GRCm39) |
|
silent |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
N4bp1 |
T |
C |
8: 87,588,033 (GRCm39) |
N302D |
probably benign |
Het |
Pcdh7 |
A |
T |
5: 57,879,236 (GRCm39) |
K930N |
probably damaging |
Het |
Pramel16 |
T |
A |
4: 143,675,456 (GRCm39) |
I457L |
probably benign |
Het |
Proca1 |
A |
T |
11: 78,095,806 (GRCm39) |
N146I |
probably damaging |
Het |
RP23-211L5.9 |
T |
C |
6: 68,872,634 (GRCm39) |
|
probably null |
Het |
Ryr2 |
A |
T |
13: 11,776,235 (GRCm39) |
W1101R |
probably damaging |
Het |
Slc35d3 |
T |
C |
10: 19,725,209 (GRCm39) |
T216A |
probably benign |
Het |
Terb1 |
C |
T |
8: 105,174,485 (GRCm39) |
|
probably benign |
Het |
Thnsl2 |
C |
A |
6: 71,108,945 (GRCm39) |
D289Y |
probably damaging |
Het |
Tigd4 |
A |
G |
3: 84,501,259 (GRCm39) |
N59D |
possibly damaging |
Het |
Togaram2 |
T |
C |
17: 72,016,592 (GRCm39) |
S649P |
probably benign |
Het |
Tradd |
G |
T |
8: 105,986,145 (GRCm39) |
F182L |
probably benign |
Het |
Trav17 |
A |
T |
14: 54,044,383 (GRCm39) |
Y50F |
probably benign |
Het |
Usp37 |
A |
T |
1: 74,489,691 (GRCm39) |
D808E |
probably damaging |
Het |
Usp42 |
G |
A |
5: 143,701,219 (GRCm39) |
P935S |
possibly damaging |
Het |
Vmn2r23 |
A |
G |
6: 123,690,123 (GRCm39) |
D333G |
possibly damaging |
Het |
Zfpm2 |
C |
T |
15: 40,962,785 (GRCm39) |
A149V |
probably benign |
Het |
|
Other mutations in Arid3c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02297:Arid3c
|
APN |
4 |
41,730,021 (GRCm39) |
missense |
possibly damaging |
0.72 |
R0445:Arid3c
|
UTSW |
4 |
41,725,172 (GRCm39) |
missense |
probably benign |
0.00 |
R0675:Arid3c
|
UTSW |
4 |
41,725,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R1617:Arid3c
|
UTSW |
4 |
41,725,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R1711:Arid3c
|
UTSW |
4 |
41,725,947 (GRCm39) |
missense |
probably damaging |
0.99 |
R1929:Arid3c
|
UTSW |
4 |
41,724,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R2270:Arid3c
|
UTSW |
4 |
41,724,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R2271:Arid3c
|
UTSW |
4 |
41,724,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R2272:Arid3c
|
UTSW |
4 |
41,724,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R2867:Arid3c
|
UTSW |
4 |
41,725,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R4818:Arid3c
|
UTSW |
4 |
41,730,072 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5622:Arid3c
|
UTSW |
4 |
41,729,959 (GRCm39) |
missense |
probably benign |
0.02 |
R6289:Arid3c
|
UTSW |
4 |
41,724,285 (GRCm39) |
unclassified |
probably benign |
|
R6995:Arid3c
|
UTSW |
4 |
41,725,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R7339:Arid3c
|
UTSW |
4 |
41,729,883 (GRCm39) |
critical splice donor site |
probably null |
|
R8244:Arid3c
|
UTSW |
4 |
41,729,997 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9009:Arid3c
|
UTSW |
4 |
41,729,925 (GRCm39) |
missense |
probably benign |
0.00 |
R9324:Arid3c
|
UTSW |
4 |
41,730,138 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9573:Arid3c
|
UTSW |
4 |
41,726,003 (GRCm39) |
missense |
probably benign |
0.42 |
R9772:Arid3c
|
UTSW |
4 |
41,724,723 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Arid3c
|
UTSW |
4 |
41,730,177 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGCACAGCTCTCAGAGAC -3'
(R):5'- TTCACGCTCCGTACACAGTG -3'
Sequencing Primer
(F):5'- ATACCTTTCTTTACTGGGCTCGGG -3'
(R):5'- CTCCGTACACAGTGAGGACAG -3'
|
Posted On |
2015-02-18 |