Incidental Mutation 'R1419:Rpa3'
ID 159986
Institutional Source Beutler Lab
Gene Symbol Rpa3
Ensembl Gene ENSMUSG00000012483
Gene Name replication protein A3
Synonyms 14kDa, C330026P08Rik
MMRRC Submission 039475-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.855) question?
Stock # R1419 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 8255936-8259173 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 8257720 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 47 (E47D)
Ref Sequence ENSEMBL: ENSMUSP00000012627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012627] [ENSMUST00000159335] [ENSMUST00000159378] [ENSMUST00000159433] [ENSMUST00000160705] [ENSMUST00000162034] [ENSMUST00000162564]
AlphaFold Q9CQ71
Predicted Effect probably benign
Transcript: ENSMUST00000012627
AA Change: E47D

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000012627
Gene: ENSMUSG00000012483
AA Change: E47D

Pfam:Rep_fac-A_3 5 113 2.5e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159335
Predicted Effect probably benign
Transcript: ENSMUST00000159378
Predicted Effect probably benign
Transcript: ENSMUST00000159433
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159594
Predicted Effect probably benign
Transcript: ENSMUST00000160705
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161400
Predicted Effect probably benign
Transcript: ENSMUST00000162034
SMART Domains Protein: ENSMUSP00000124306
Gene: ENSMUSG00000089862

low complexity region 40 51 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162564
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T A 7: 120,374,902 M894K probably benign Het
Ablim1 C A 19: 57,134,633 C173F probably damaging Het
Abtb2 G T 2: 103,709,420 R710L probably benign Het
AI481877 T C 4: 59,064,457 T826A possibly damaging Het
Arap3 T C 18: 37,978,432 T1144A possibly damaging Het
Arhgef12 A T 9: 43,027,220 V92D probably damaging Het
Ash1l T G 3: 88,984,897 M1361R probably damaging Het
Atm A C 9: 53,457,489 N2337K probably benign Het
Cog7 T C 7: 121,955,992 E316G probably damaging Het
Dsp A G 13: 38,186,695 Y858C probably damaging Het
Enc1 G T 13: 97,246,184 G401C probably damaging Het
Gata6 T C 18: 11,064,706 V506A probably benign Het
Gm16380 C T 9: 53,884,187 noncoding transcript Het
H2-Ke6 G A 17: 34,027,643 R89C probably benign Het
Hsh2d G A 8: 72,200,460 D229N probably benign Het
Ift80 T A 3: 68,940,198 N322Y probably damaging Het
Igsf9 T A 1: 172,498,011 V1082E probably damaging Het
Katnal2 A T 18: 76,977,432 L481Q possibly damaging Het
Kcnma1 T C 14: 23,367,642 T713A probably damaging Het
Kif13a T C 13: 46,825,235 T230A probably damaging Het
Klhl14 C A 18: 21,652,193 R59L probably damaging Het
Mecom A G 3: 29,980,889 C213R probably damaging Het
Mrpl13 T A 15: 55,534,321 M178L probably benign Het
Myof T C 19: 37,901,911 E1971G probably damaging Het
Naa10 A G X: 73,917,916 V133A probably damaging Het
Nlrp4g G A 9: 124,349,434 noncoding transcript Het
Ofcc1 C T 13: 40,208,829 G206R probably benign Het
Olfr1042 A G 2: 86,159,429 *314Q probably null Het
Olfr1234 T C 2: 89,363,322 T36A probably damaging Het
Olfr1297 A T 2: 111,621,295 F260I probably benign Het
Oplah T C 15: 76,297,920 I1047V probably benign Het
Paip1 A G 13: 119,457,017 D189G probably damaging Het
Pkn1 A G 8: 83,673,522 F624L probably damaging Het
Plxnb1 C A 9: 109,114,386 P1899H probably damaging Het
Snai2 C T 16: 14,708,180 H232Y possibly damaging Het
Spint5 T C 2: 164,715,411 S23P possibly damaging Het
St8sia2 G A 7: 73,966,994 Q78* probably null Het
Tktl2 A G 8: 66,513,038 N416S probably damaging Het
Tm7sf3 T A 6: 146,603,977 I494F possibly damaging Het
Trf C T 9: 103,226,108 V119M probably damaging Het
Other mutations in Rpa3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5592:Rpa3 UTSW 6 8257694 missense probably benign 0.30
R6297:Rpa3 UTSW 6 8256767 nonsense probably null
R8132:Rpa3 UTSW 6 8256790 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
(R):5'- gccagggctatactgagaaac -3'
Posted On 2014-03-14