Incidental Mutation 'R0465:Rpa1'
ID 41589
Institutional Source Beutler Lab
Gene Symbol Rpa1
Ensembl Gene ENSMUSG00000000751
Gene Name replication protein A1
Synonyms 5031405K23Rik, Rpa, RF-A, 70kDa, RP-A
MMRRC Submission 038665-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0465 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 75191085-75239478 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75203921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 288 (T288A)
Ref Sequence ENSEMBL: ENSMUSP00000090585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000767] [ENSMUST00000092907]
AlphaFold Q8VEE4
Predicted Effect probably damaging
Transcript: ENSMUST00000000767
AA Change: T309A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000000767
Gene: ENSMUSG00000000751
AA Change: T309A

DomainStartEndE-ValueType
Pfam:Rep-A_N 5 93 7.2e-30 PFAM
low complexity region 145 175 N/A INTRINSIC
Pfam:tRNA_anti-codon 227 316 5e-13 PFAM
Pfam:REPA_OB_2 335 432 5e-37 PFAM
Pfam:Rep_fac-A_C 491 636 4.5e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000092907
AA Change: T288A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000090585
Gene: ENSMUSG00000000751
AA Change: T288A

DomainStartEndE-ValueType
Pfam:Rep-A_N 5 104 4.3e-35 PFAM
low complexity region 124 154 N/A INTRINSIC
Pfam:tRNA_anti-codon 206 295 8.4e-13 PFAM
SCOP:d1fgua2 308 435 8e-46 SMART
Pfam:Rep_fac-A_C 470 615 9.2e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135770
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154894
Meta Mutation Damage Score 0.6875 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 100% (71/71)
MGI Phenotype PHENOTYPE: Homozygous null mice display embryonic lethality before implantation and impaired cell proliferation. Heterozygous null mice display decreased survival, chromosomal instability, impaired double strand break repair, and develop lymphomas. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 T A 17: 56,092,137 (GRCm39) probably benign Het
Ankrd13a T A 5: 114,942,295 (GRCm39) I526N probably damaging Het
Aox1 G A 1: 58,101,366 (GRCm39) V446I probably damaging Het
Arid1b G A 17: 5,046,535 (GRCm39) G441D possibly damaging Het
Bdkrb2 A T 12: 105,558,118 (GRCm39) N120Y possibly damaging Het
Bud31 G A 5: 145,083,396 (GRCm39) V80I probably damaging Het
Camkmt T A 17: 85,738,950 (GRCm39) F225L probably damaging Het
Carf T C 1: 60,171,142 (GRCm39) M200T probably damaging Het
Carmil3 T C 14: 55,737,318 (GRCm39) L767P probably damaging Het
Cdk14 T A 5: 5,143,019 (GRCm39) R237S probably damaging Het
Cdx2 C A 5: 147,243,283 (GRCm39) K170N possibly damaging Het
Cfap65 G A 1: 74,956,043 (GRCm39) R1093C possibly damaging Het
Cnot8 T A 11: 58,004,886 (GRCm39) V195E probably damaging Het
Copa T C 1: 171,945,872 (GRCm39) F936S probably damaging Het
Cstdc1 A G 2: 148,625,345 (GRCm39) N93S probably benign Het
Dnai1 T A 4: 41,629,988 (GRCm39) probably null Het
Dsel T C 1: 111,789,992 (GRCm39) N181S probably benign Het
Enpp7 A G 11: 118,879,607 (GRCm39) N87S probably damaging Het
Fads1 C T 19: 10,160,429 (GRCm39) P5L probably benign Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gm12695 T C 4: 96,673,312 (GRCm39) Y29C probably damaging Het
Gm5592 T A 7: 40,805,481 (GRCm39) probably benign Het
Gmnc T G 16: 26,781,702 (GRCm39) N109T probably damaging Het
Gstcd A G 3: 132,688,905 (GRCm39) I615T probably benign Het
Hal A C 10: 93,352,146 (GRCm39) K646Q probably benign Het
Hbs1l A G 10: 21,227,940 (GRCm39) I472V probably null Het
Ift27 A T 15: 78,057,958 (GRCm39) probably benign Het
Iqub A T 6: 24,503,783 (GRCm39) I163N probably damaging Het
Isg20l2 T A 3: 87,838,987 (GRCm39) V66E probably benign Het
Itgb4 T C 11: 115,870,582 (GRCm39) M137T probably damaging Het
Lca5 T A 9: 83,277,920 (GRCm39) K475* probably null Het
Lyve1 A G 7: 110,452,034 (GRCm39) probably null Het
Map3k19 T C 1: 127,766,264 (GRCm39) D220G probably damaging Het
Mdn1 T A 4: 32,699,204 (GRCm39) probably benign Het
Mmp15 T C 8: 96,094,626 (GRCm39) W167R probably damaging Het
Ms4a13 A G 19: 11,149,957 (GRCm39) C135R probably benign Het
Myh1 A G 11: 67,101,243 (GRCm39) H673R possibly damaging Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Oas2 A G 5: 120,873,120 (GRCm39) I645T probably damaging Het
Or52s6 A T 7: 103,092,042 (GRCm39) F96Y possibly damaging Het
Pard3b T G 1: 62,250,877 (GRCm39) probably benign Het
Patj T A 4: 98,423,744 (GRCm39) probably null Het
Pcare A G 17: 72,057,155 (GRCm39) C841R probably benign Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Pkd1l3 G A 8: 110,350,295 (GRCm39) S380N probably benign Het
Rab34 C A 11: 78,081,337 (GRCm39) C67* probably null Het
Rimbp3 T C 16: 17,029,644 (GRCm39) S1023P possibly damaging Het
Rnf148 T C 6: 23,654,684 (GRCm39) N104S probably benign Het
Scn9a A G 2: 66,357,340 (GRCm39) L976P probably damaging Het
Serpina12 T A 12: 104,004,104 (GRCm39) D176V probably benign Het
Sik1 C T 17: 32,073,996 (GRCm39) V10I possibly damaging Het
Sntb1 C A 15: 55,612,672 (GRCm39) R302L probably benign Het
Stambp A G 6: 83,547,321 (GRCm39) I56T probably benign Het
Tac2 A G 10: 127,565,039 (GRCm39) probably benign Het
Tecta A T 9: 42,270,714 (GRCm39) I1198K possibly damaging Het
Tfip11 C T 5: 112,481,130 (GRCm39) R369C probably benign Het
Tnpo1 A G 13: 99,021,142 (GRCm39) I79T probably damaging Het
Ttll5 A T 12: 85,980,100 (GRCm39) N895Y probably benign Het
Ube2u T A 4: 100,389,293 (GRCm39) probably benign Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Vmn2r1 T C 3: 63,989,180 (GRCm39) S40P possibly damaging Het
Vmn2r100 G A 17: 19,751,792 (GRCm39) V612I probably damaging Het
Vmn2r59 G T 7: 41,696,332 (GRCm39) H137N probably benign Het
Vsig10l T C 7: 43,116,866 (GRCm39) V467A probably damaging Het
Vwde A G 6: 13,215,805 (GRCm39) probably benign Het
Xrra1 T A 7: 99,528,578 (GRCm39) D139E probably benign Het
Zc3h15 T C 2: 83,494,159 (GRCm39) probably benign Het
Zfhx4 C T 3: 5,310,716 (GRCm39) probably benign Het
Zscan18 A G 7: 12,509,413 (GRCm39) probably benign Het
Other mutations in Rpa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01296:Rpa1 APN 11 75,203,141 (GRCm39) missense probably damaging 1.00
IGL01347:Rpa1 APN 11 75,198,111 (GRCm39) missense probably damaging 1.00
IGL02976:Rpa1 APN 11 75,203,628 (GRCm39) missense probably damaging 0.99
IGL03169:Rpa1 APN 11 75,192,183 (GRCm39) missense probably damaging 0.97
nonnae UTSW 11 75,205,721 (GRCm39) missense probably damaging 1.00
vomica UTSW 11 75,231,171 (GRCm39) missense possibly damaging 0.89
FR4976:Rpa1 UTSW 11 75,209,345 (GRCm39) small deletion probably benign
PIT4576001:Rpa1 UTSW 11 75,203,984 (GRCm39) missense probably damaging 1.00
R0017:Rpa1 UTSW 11 75,205,687 (GRCm39) missense probably null 1.00
R0017:Rpa1 UTSW 11 75,205,687 (GRCm39) missense probably null 1.00
R0126:Rpa1 UTSW 11 75,209,355 (GRCm39) missense probably benign 0.00
R0240:Rpa1 UTSW 11 75,219,513 (GRCm39) missense probably benign 0.01
R0240:Rpa1 UTSW 11 75,219,513 (GRCm39) missense probably benign 0.01
R0718:Rpa1 UTSW 11 75,209,227 (GRCm39) splice site probably benign
R0973:Rpa1 UTSW 11 75,203,799 (GRCm39) splice site probably null
R1055:Rpa1 UTSW 11 75,193,558 (GRCm39) missense probably damaging 1.00
R1172:Rpa1 UTSW 11 75,203,219 (GRCm39) missense probably damaging 1.00
R1642:Rpa1 UTSW 11 75,203,517 (GRCm39) critical splice donor site probably null
R1883:Rpa1 UTSW 11 75,209,309 (GRCm39) missense probably benign
R1975:Rpa1 UTSW 11 75,197,002 (GRCm39) missense probably damaging 1.00
R5008:Rpa1 UTSW 11 75,204,125 (GRCm39) critical splice donor site probably null
R5279:Rpa1 UTSW 11 75,204,170 (GRCm39) missense probably damaging 0.96
R6083:Rpa1 UTSW 11 75,205,737 (GRCm39) missense probably damaging 1.00
R6161:Rpa1 UTSW 11 75,205,721 (GRCm39) missense probably damaging 1.00
R6187:Rpa1 UTSW 11 75,201,062 (GRCm39) missense probably benign 0.00
R6762:Rpa1 UTSW 11 75,231,171 (GRCm39) missense possibly damaging 0.89
R6828:Rpa1 UTSW 11 75,205,697 (GRCm39) missense probably damaging 1.00
R7044:Rpa1 UTSW 11 75,203,628 (GRCm39) missense probably damaging 0.99
R7331:Rpa1 UTSW 11 75,203,941 (GRCm39) missense probably damaging 0.98
R7798:Rpa1 UTSW 11 75,203,635 (GRCm39) missense probably damaging 0.96
R7890:Rpa1 UTSW 11 75,198,050 (GRCm39) frame shift probably null
R7938:Rpa1 UTSW 11 75,198,050 (GRCm39) frame shift probably null
R8116:Rpa1 UTSW 11 75,193,501 (GRCm39) missense possibly damaging 0.90
R8258:Rpa1 UTSW 11 75,193,550 (GRCm39) missense probably benign 0.03
R8259:Rpa1 UTSW 11 75,193,550 (GRCm39) missense probably benign 0.03
R8837:Rpa1 UTSW 11 75,204,167 (GRCm39) missense possibly damaging 0.70
R9169:Rpa1 UTSW 11 75,200,999 (GRCm39) nonsense probably null
R9789:Rpa1 UTSW 11 75,203,938 (GRCm39) missense probably damaging 0.97
RF018:Rpa1 UTSW 11 75,209,343 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- CCTCTTTAAAACACGGCAGGGACG -3'
(R):5'- TGAGTCAGAGCTGACAGGCTGAAC -3'

Sequencing Primer
(F):5'- AGGCAAGCACGCTAGTC -3'
(R):5'- CTGTGAGAGCCATGAGCAC -3'
Posted On 2013-05-23