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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Dynactin_p22 1 149 1.4e-63 PFAM
Meta Mutation Damage Score 0.4820 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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