Incidental Mutation 'R9772:Arid3c'
| ID |
733476 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arid3c
|
| Ensembl Gene |
ENSMUSG00000066224 |
| Gene Name |
AT-rich interaction domain 3C |
| Synonyms |
OTTMUSG00000006683 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.283)
|
| Stock # |
R9772 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
41723836-41731142 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41724723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 371
(N371D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081748
(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 |
probably damaging
Transcript: ENSMUST00000084698
AA Change: N371D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081748
Gene: ENSMUSG00000066224
AA Change: N371D
| 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 |
probably benign
Transcript: ENSMUST00000150809
|
| SMART Domains |
Protein: ENSMUSP00000116411
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 |
|
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 damaging
Transcript: ENSMUST00000171251
AA Change: N371D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127678
Gene: ENSMUSG00000066224
AA Change: N371D
| 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: 99.8%
- 10x: 99.4%
- 20x: 98.5%
|
| Validation Efficiency |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl2 |
A |
T |
2: 26,985,666 (GRCm39) |
I517F |
probably benign |
Het |
| Ankdd1a |
A |
G |
9: 65,408,749 (GRCm39) |
C506R |
probably damaging |
Het |
| Ccdc117 |
C |
T |
11: 5,492,042 (GRCm39) |
R6Q |
possibly damaging |
Het |
| Ccdc78 |
C |
T |
17: 26,005,665 (GRCm39) |
R26* |
probably null |
Het |
| Clca4a |
C |
A |
3: 144,676,422 (GRCm39) |
W86L |
probably damaging |
Het |
| Clrn2 |
C |
T |
5: 45,611,369 (GRCm39) |
Q73* |
probably null |
Het |
| Cpne6 |
A |
G |
14: 55,754,117 (GRCm39) |
D478G |
probably benign |
Het |
| Cyp2c40 |
T |
A |
19: 39,792,348 (GRCm39) |
I199L |
probably benign |
Het |
| Dna2 |
T |
C |
10: 62,786,522 (GRCm39) |
V90A |
probably benign |
Het |
| Dydc1 |
A |
G |
14: 40,804,248 (GRCm39) |
E90G |
probably damaging |
Het |
| Egf |
A |
T |
3: 129,499,756 (GRCm39) |
S795T |
probably benign |
Het |
| Gm13090 |
G |
T |
4: 151,175,565 (GRCm39) |
A102S |
unknown |
Het |
| Hectd4 |
A |
T |
5: 121,448,744 (GRCm39) |
Y364F |
probably benign |
Het |
| Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
| Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
| Ltf |
T |
C |
9: 110,869,425 (GRCm39) |
S87P |
unknown |
Het |
| Mesp2 |
A |
G |
7: 79,461,348 (GRCm39) |
I224M |
possibly damaging |
Het |
| Mettl25 |
T |
C |
10: 105,633,127 (GRCm39) |
R439G |
probably benign |
Het |
| Mettl27 |
C |
T |
5: 134,962,390 (GRCm39) |
R63W |
possibly damaging |
Het |
| Nap1l1 |
C |
T |
10: 111,325,911 (GRCm39) |
R77* |
probably null |
Het |
| Niban2 |
T |
C |
2: 32,795,868 (GRCm39) |
I48T |
probably damaging |
Het |
| Notch4 |
G |
T |
17: 34,792,883 (GRCm39) |
|
probably null |
Het |
| Npepps |
A |
G |
11: 97,113,983 (GRCm39) |
I631T |
probably benign |
Het |
| Or4c105 |
G |
A |
2: 88,647,958 (GRCm39) |
V148I |
probably benign |
Het |
| Or8b51 |
A |
T |
9: 38,568,964 (GRCm39) |
C241* |
probably null |
Het |
| Pacsin3 |
T |
A |
2: 91,093,138 (GRCm39) |
L210Q |
probably damaging |
Het |
| Ppp2r1a |
A |
T |
17: 21,181,855 (GRCm39) |
I458F |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,609,785 (GRCm39) |
E4347G |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,657,048 (GRCm39) |
I1911T |
probably damaging |
Het |
| Sec16a |
A |
G |
2: 26,329,417 (GRCm39) |
I866T |
possibly damaging |
Het |
| Sfr1 |
G |
T |
19: 47,722,019 (GRCm39) |
C145F |
probably benign |
Het |
| Slc35f4 |
A |
T |
14: 49,551,175 (GRCm39) |
Y230N |
probably damaging |
Het |
| Slx4 |
A |
G |
16: 3,818,849 (GRCm39) |
V89A |
|
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Tbc1d23 |
A |
G |
16: 56,990,765 (GRCm39) |
I671T |
probably damaging |
Het |
| Trub1 |
G |
A |
19: 57,472,075 (GRCm39) |
V184I |
probably benign |
Het |
| Usp10 |
CAA |
CAAA |
8: 120,658,620 (GRCm39) |
|
probably null |
Het |
| Vit |
A |
C |
17: 78,932,398 (GRCm39) |
T502P |
probably damaging |
Het |
| Vmn2r15 |
C |
T |
5: 109,434,923 (GRCm39) |
G594R |
probably 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 |
|
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 |
|
Z1177:Arid3c
|
UTSW |
4 |
41,730,177 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGCCTTGTAGACAAACTCTTG -3'
(R):5'- CATGCTGAATGCTGGAGGTG -3'
Sequencing Primer
(F):5'- GCCTTGTAGACAAACTCTTGAATCC -3'
(R):5'- TACAGGCAGGTCCCTTGATAGAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation