Incidental Mutation 'R6289:Arid3c'
ID |
508294 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arid3c
|
Ensembl Gene |
ENSMUSG00000066224 |
Gene Name |
AT-rich interaction domain 3C |
Synonyms |
OTTMUSG00000006683 |
MMRRC Submission |
044459-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.283)
|
Stock # |
R6289 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
41723836-41731142 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
G to A
at 41724285 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130988
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030158]
[ENSMUST00000084698]
[ENSMUST00000108041]
[ENSMUST00000150809]
[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 |
unknown
Transcript: ENSMUST00000084698
AA Change: T393I
|
SMART Domains |
Protein: ENSMUSP00000081748 Gene: ENSMUSG00000066224 AA Change: T393I
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 |
unknown
Transcript: ENSMUST00000150809
AA Change: T363I
|
SMART Domains |
Protein: ENSMUSP00000116411 Gene: ENSMUSG00000066224 AA Change: T363I
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 |
unknown
Transcript: ENSMUST00000171251
AA Change: T393I
|
SMART Domains |
Protein: ENSMUSP00000127678 Gene: ENSMUSG00000066224 AA Change: T393I
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
Validation Efficiency |
100% (41/41) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam21 |
A |
G |
12: 81,607,480 (GRCm39) |
V94A |
probably damaging |
Het |
Ankrd36 |
T |
C |
11: 5,578,837 (GRCm39) |
S34P |
probably damaging |
Het |
Atg16l1 |
C |
T |
1: 87,683,937 (GRCm39) |
R6C |
probably damaging |
Het |
Bex6 |
A |
G |
16: 32,005,530 (GRCm39) |
I113V |
probably benign |
Het |
Blk |
T |
C |
14: 63,613,341 (GRCm39) |
|
probably null |
Het |
C1s1 |
A |
G |
6: 124,508,135 (GRCm39) |
F618S |
probably damaging |
Het |
Casp8ap2 |
C |
T |
4: 32,639,590 (GRCm39) |
H215Y |
probably damaging |
Het |
Casp9 |
T |
A |
4: 141,534,496 (GRCm39) |
V302E |
probably damaging |
Het |
Ccl2 |
A |
C |
11: 81,927,795 (GRCm39) |
K80Q |
probably benign |
Het |
Cit |
T |
G |
5: 116,144,385 (GRCm39) |
*2014E |
probably null |
Het |
Dclk2 |
A |
T |
3: 86,739,124 (GRCm39) |
S292T |
probably benign |
Het |
Ddx23 |
T |
C |
15: 98,547,765 (GRCm39) |
E463G |
probably benign |
Het |
Dennd1b |
T |
C |
1: 139,096,683 (GRCm39) |
|
probably benign |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Fgf10 |
C |
A |
13: 118,852,028 (GRCm39) |
Q37K |
probably benign |
Het |
Fgf22 |
A |
G |
10: 79,591,041 (GRCm39) |
D24G |
probably damaging |
Het |
Gabra1 |
A |
G |
11: 42,045,846 (GRCm39) |
I88T |
probably damaging |
Het |
Grip2 |
A |
G |
6: 91,755,852 (GRCm39) |
I586T |
probably benign |
Het |
H1f5 |
G |
T |
13: 21,964,609 (GRCm39) |
P39Q |
probably damaging |
Het |
Hpse2 |
T |
A |
19: 42,777,418 (GRCm39) |
N583Y |
probably null |
Het |
Katnal2 |
A |
G |
18: 77,105,151 (GRCm39) |
|
probably null |
Het |
Keg1 |
T |
G |
19: 12,691,937 (GRCm39) |
C85G |
probably damaging |
Het |
Kidins220 |
T |
A |
12: 25,106,615 (GRCm39) |
L1356H |
probably damaging |
Het |
Lifr |
A |
G |
15: 7,196,391 (GRCm39) |
K192E |
probably benign |
Het |
Mks1 |
T |
C |
11: 87,750,485 (GRCm39) |
|
probably null |
Het |
Or5b110-ps1 |
T |
C |
19: 13,260,158 (GRCm39) |
K88R |
possibly damaging |
Het |
Rars1 |
C |
T |
11: 35,716,894 (GRCm39) |
M207I |
probably damaging |
Het |
Rbm6 |
T |
C |
9: 107,655,147 (GRCm39) |
Y896C |
probably damaging |
Het |
Scarf1 |
T |
A |
11: 75,416,242 (GRCm39) |
W472R |
possibly damaging |
Het |
Septin8 |
A |
G |
11: 53,425,305 (GRCm39) |
N66S |
probably damaging |
Het |
Smcr8 |
T |
C |
11: 60,669,424 (GRCm39) |
F191L |
probably damaging |
Het |
Tdrd6 |
A |
G |
17: 43,935,411 (GRCm39) |
M1879T |
probably benign |
Het |
Tlr3 |
C |
T |
8: 45,849,966 (GRCm39) |
R901Q |
probably benign |
Het |
Trpc4ap |
T |
C |
2: 155,505,627 (GRCm39) |
T203A |
possibly damaging |
Het |
Tubgcp5 |
A |
G |
7: 55,445,671 (GRCm39) |
S58G |
probably benign |
Het |
Ubtd2 |
A |
G |
11: 32,466,177 (GRCm39) |
E132G |
probably damaging |
Het |
Uggt2 |
T |
A |
14: 119,279,014 (GRCm39) |
E831V |
probably damaging |
Het |
Umodl1 |
A |
G |
17: 31,201,325 (GRCm39) |
N418S |
probably benign |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
Wdhd1 |
A |
C |
14: 47,495,953 (GRCm39) |
I637S |
possibly damaging |
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 |
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 |
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'- TGGCATGCTGACATCAACC -3'
(R):5'- CATGGGATGTCTGCTTTGTCAC -3'
Sequencing Primer
(F):5'- TGCTGACATCAACCAGGACTG -3'
(R):5'- GTGAGTATTTATTGCGCACCTAC -3'
|
Posted On |
2018-03-15 |