Incidental Mutation 'R9573:Arid3c'
ID 722102
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) question?
Stock # R9573 (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 G at 41726003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 200 (E200A)
Ref Sequence ENSEMBL: ENSMUSP00000081748 (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 benign
Transcript: ENSMUST00000084698
AA Change: E200A

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000081748
Gene: ENSMUSG00000066224
AA Change: E200A

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: E200A

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116411
Gene: ENSMUSG00000066224
AA Change: E200A

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 benign
Transcript: ENSMUST00000171251
AA Change: E200A

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000127678
Gene: ENSMUSG00000066224
AA Change: E200A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn T A 17: 14,050,229 (GRCm39) V472E probably damaging Het
Ak3 T C 19: 29,003,667 (GRCm39) I170V probably benign Het
Ank3 T A 10: 69,791,977 (GRCm39) L1058* probably null Het
Ankrd60 A G 2: 173,410,791 (GRCm39) V243A possibly damaging Het
Apol11b C T 15: 77,524,771 (GRCm39) E5K possibly damaging Het
Astn2 T G 4: 65,566,591 (GRCm39) I856L probably benign Het
Bcs1l C A 1: 74,629,492 (GRCm39) R177S probably damaging Het
Bin2 A T 15: 100,560,433 (GRCm39) F43I probably damaging Het
Braf A G 6: 39,600,544 (GRCm39) L691P probably damaging Het
Bud23 C T 5: 135,082,274 (GRCm39) V266I possibly damaging Het
Casp12 A T 9: 5,354,629 (GRCm39) I333L probably benign Het
Cavin2 T A 1: 51,328,795 (GRCm39) I84N probably damaging Het
Ccdc168 A C 1: 44,095,307 (GRCm39) Y1930* probably null Het
Ccdc196 A T 12: 78,244,098 (GRCm39) N17I Het
Cep170b T A 12: 112,691,154 (GRCm39) F24I probably damaging Het
Chd9 A G 8: 91,704,302 (GRCm39) Y719C unknown Het
Commd7 A G 2: 153,463,981 (GRCm39) M137T probably damaging Het
Dmbt1 G A 7: 130,657,910 (GRCm39) probably null Het
Dnah12 A C 14: 26,414,619 (GRCm39) T7P probably benign Het
Elapor1 A T 3: 108,373,094 (GRCm39) I548N probably damaging Het
Endod1 A T 9: 14,292,247 (GRCm39) L7Q probably damaging Het
Galnt14 C T 17: 73,802,662 (GRCm39) V477M probably damaging Het
Glis2 C T 16: 4,429,505 (GRCm39) R211C probably damaging Het
Gm4744 A T 6: 40,925,497 (GRCm39) V122D Het
Gm4952 G A 19: 12,604,090 (GRCm39) M167I probably benign Het
Hyal4 T C 6: 24,756,508 (GRCm39) V242A possibly damaging Het
Ift122 T G 6: 115,857,646 (GRCm39) S131A probably benign Het
Il4ra T A 7: 125,169,158 (GRCm39) S137T possibly damaging Het
Lcor T A 19: 41,573,471 (GRCm39) L742Q probably damaging Het
Lpin2 A G 17: 71,538,185 (GRCm39) K315R probably benign Het
Map3k6 T C 4: 132,979,774 (GRCm39) Y1258H probably damaging Het
Mapk9 A T 11: 49,769,239 (GRCm39) K290N probably damaging Het
Mfhas1 C T 8: 36,143,903 (GRCm39) H1045Y possibly damaging Het
Ndufaf7 C A 17: 79,246,036 (GRCm39) Q90K probably damaging Het
Nlrc3 A T 16: 3,771,841 (GRCm39) V157E probably benign Het
Npas4 A G 19: 5,035,837 (GRCm39) F776L probably benign Het
Nuggc A C 14: 65,848,603 (GRCm39) D184A probably benign Het
Ogdhl A G 14: 32,066,678 (GRCm39) E795G probably damaging Het
Or5a1 A G 19: 12,097,509 (GRCm39) I189T probably damaging Het
Or9a2 T G 6: 41,748,940 (GRCm39) I98L probably benign Het
Pcbp1 A T 6: 86,502,677 (GRCm39) M74K possibly damaging Het
Plk4 A G 3: 40,763,257 (GRCm39) D476G probably benign Het
Prox2 G A 12: 85,141,766 (GRCm39) Q146* probably null Het
Rab44 A T 17: 29,364,277 (GRCm39) Y617F unknown Het
Rabepk T C 2: 34,675,627 (GRCm39) R168G probably benign Het
Rbmyf9 T A Y: 3,775,370 (GRCm39) M40K possibly damaging Het
Rif1 T G 2: 52,000,466 (GRCm39) S1307A probably benign Het
Ror2 C T 13: 53,265,467 (GRCm39) V542I probably benign Het
Rtp1 A G 16: 23,250,159 (GRCm39) I175V possibly damaging Het
Slc11a2 T A 15: 100,304,225 (GRCm39) I158F probably damaging Het
Slc24a3 T G 2: 145,455,548 (GRCm39) M479R probably damaging Het
Slc4a9 T C 18: 36,668,589 (GRCm39) F723S probably damaging Het
Syne2 C A 12: 75,927,134 (GRCm39) N93K probably damaging Het
Sytl2 A G 7: 90,057,599 (GRCm39) Q846R probably damaging Het
Tas2r116 A C 6: 132,833,140 (GRCm39) H247P probably benign Het
Tcstv3 T C 13: 120,779,130 (GRCm39) S10P probably damaging Het
Tgm7 T C 2: 120,934,606 (GRCm39) N124S probably benign Het
Tmem219 A T 7: 126,490,933 (GRCm39) Y175N probably damaging Het
Tnfrsf18 G A 4: 156,112,484 (GRCm39) G114S possibly damaging Het
Trim38 G A 13: 23,966,688 (GRCm39) C45Y probably benign Het
Tshz1 T C 18: 84,032,404 (GRCm39) E668G probably benign Het
Ubr4 T A 4: 139,148,450 (GRCm39) M382K Het
Vps39 T C 2: 120,155,179 (GRCm39) E549G possibly damaging Het
Wdr35 G A 12: 9,078,014 (GRCm39) G1135D probably benign Het
Zbtb46 A G 2: 181,053,548 (GRCm39) L388P probably benign Het
Zdhhc25 T A 15: 88,485,307 (GRCm39) M214K probably damaging Het
Zfp735 G A 11: 73,602,936 (GRCm39) E627K possibly damaging 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
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
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'- ATCAACCGAAAAGTGTGGCG -3'

Sequencing Primer
(F):5'- CCAGAAGCAGAACCCTGGGTG -3'
(R):5'- TGGCGAGAAGTCACACGC -3'
Posted On 2022-08-09