Incidental Mutation 'IGL02297:Arid3c'
ID290204
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arid3c
Ensembl Gene ENSMUSG00000066224
Gene NameAT rich interactive domain 3C (BRIGHT-like)
SynonymsOTTMUSG00000006683
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.461) question?
Stock #IGL02297
Quality Score
Status
Chromosome4
Chromosomal Location41723836-41731142 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 41730021 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 58 (E58G)
Ref Sequence ENSEMBL: ENSMUSP00000127678 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084698] [ENSMUST00000108041] [ENSMUST00000150809] [ENSMUST00000159930] [ENSMUST00000171251]
Predicted Effect possibly damaging
Transcript: ENSMUST00000084698
AA Change: E58G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000081748
Gene: ENSMUSG00000066224
AA Change: E58G

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 possibly damaging
Transcript: ENSMUST00000150809
AA Change: E58G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000116411
Gene: ENSMUSG00000066224
AA Change: E58G

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 unknown
Transcript: ENSMUST00000159930
AA Change: E58G
SMART Domains Protein: ENSMUSP00000124563
Gene: ENSMUSG00000066224
AA Change: E58G

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 possibly damaging
Transcript: ENSMUST00000171251
AA Change: E58G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000127678
Gene: ENSMUSG00000066224
AA Change: E58G

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
Coding Region Coverage
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aifm2 C T 10: 61,735,548 A287V possibly damaging Het
Aqr A G 2: 114,150,481 I273T probably benign Het
Col5a3 G T 9: 20,772,154 T1574K unknown Het
Dbh T C 2: 27,177,736 V457A probably benign Het
Gm12888 T C 4: 121,324,799 E32G probably damaging Het
Gnaq A G 19: 16,378,251 D277G probably damaging Het
Il20 G A 1: 130,908,408 H133Y probably damaging Het
Itpr1 T A 6: 108,339,517 F58L possibly damaging Het
Lynx1 G T 15: 74,751,642 Q19K probably benign Het
Lyst G T 13: 13,638,092 E1030* probably null Het
Matn1 T A 4: 130,952,264 probably benign Het
Nav2 A T 7: 49,594,229 N2068I probably damaging Het
Olfr1469 C T 19: 13,411,475 T302I probably benign Het
Olfr948 T C 9: 39,318,703 I304V possibly damaging Het
Slc25a23 G T 17: 57,053,324 Q273K probably benign Het
Slco4a1 T G 2: 180,464,489 C155G probably benign Het
Txnip T C 3: 96,558,357 V41A probably damaging Het
Wnt16 C A 6: 22,297,991 Y285* probably null Het
Other mutations in Arid3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0445:Arid3c UTSW 4 41725172 missense probably benign 0.00
R0675:Arid3c UTSW 4 41725958 missense probably damaging 1.00
R1617:Arid3c UTSW 4 41725103 missense probably damaging 1.00
R1711:Arid3c UTSW 4 41725947 missense probably damaging 0.99
R1929:Arid3c UTSW 4 41724744 missense probably damaging 1.00
R2270:Arid3c UTSW 4 41724744 missense probably damaging 1.00
R2271:Arid3c UTSW 4 41724744 missense probably damaging 1.00
R2272:Arid3c UTSW 4 41724744 missense probably damaging 1.00
R2867:Arid3c UTSW 4 41725958 missense probably damaging 1.00
R2867:Arid3c UTSW 4 41725958 missense probably damaging 1.00
R4818:Arid3c UTSW 4 41730072 missense possibly damaging 0.72
R5622:Arid3c UTSW 4 41729959 missense probably benign 0.02
R6289:Arid3c UTSW 4 41724285 unclassified probably benign
Posted On2015-04-16