Incidental Mutation 'R0126:Rpa1'
ID 21396
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 038411-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0126 (G1)
Quality Score 98
Status Validated (trace)
Chromosome 11
Chromosomal Location 75191085-75239478 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 75209355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 143 (Y143D)
Ref Sequence ENSEMBL: ENSMUSP00000000767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000767] [ENSMUST00000092907]
AlphaFold Q8VEE4
Predicted Effect probably benign
Transcript: ENSMUST00000000767
AA Change: Y143D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000000767
Gene: ENSMUSG00000000751
AA Change: Y143D

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 benign
Transcript: ENSMUST00000092907
AA Change: Y122D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000090585
Gene: ENSMUSG00000000751
AA Change: Y122D

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198372
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 93.2%
  • 20x: 81.8%
Validation Efficiency 98% (102/104)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T C 2: 25,333,742 (GRCm39) L1730P possibly damaging Het
Adam9 T C 8: 25,460,753 (GRCm39) N577S probably damaging Het
Add1 T C 5: 34,770,923 (GRCm39) Y316H probably benign Het
Agpat3 T C 10: 78,113,890 (GRCm39) D266G probably null Het
Aldh3a2 C A 11: 61,115,384 (GRCm39) Q524H probably benign Het
Alox12b A C 11: 69,058,297 (GRCm39) S550R probably benign Het
Ano4 T A 10: 88,788,154 (GRCm39) I753F possibly damaging Het
AW011738 T A 4: 156,288,104 (GRCm39) probably benign Het
B4galt3 C T 1: 171,103,738 (GRCm39) T103M probably damaging Het
Cabs1 C T 5: 88,128,054 (GRCm39) T235I probably damaging Het
Casq2 A G 3: 102,040,715 (GRCm39) H272R probably damaging Het
Ccdc180 T C 4: 45,912,866 (GRCm39) probably null Het
Cdh12 A T 15: 21,584,031 (GRCm39) M624L probably benign Het
Cdh5 A C 8: 104,867,314 (GRCm39) probably null Het
Col7a1 A G 9: 108,798,651 (GRCm39) probably benign Het
Cpne2 A T 8: 95,281,561 (GRCm39) I199F probably damaging Het
Crebbp A T 16: 3,901,927 (GRCm39) F2399L possibly damaging Het
Defb36 T C 2: 152,454,499 (GRCm39) C53R probably damaging Het
Degs1 T C 1: 182,107,257 (GRCm39) M1V probably null Het
Disp2 T A 2: 118,620,819 (GRCm39) F517Y probably damaging Het
Dnah5 A G 15: 28,246,465 (GRCm39) D601G probably benign Het
Dnpep G A 1: 75,289,182 (GRCm39) Q310* probably null Het
Dsg1a A G 18: 20,473,935 (GRCm39) T1003A probably benign Het
Fbrsl1 C G 5: 110,543,906 (GRCm39) probably benign Het
Foxh1 A T 15: 76,553,454 (GRCm39) L116H probably damaging Het
Gigyf2 G A 1: 87,339,597 (GRCm39) probably benign Het
Golm2 T C 2: 121,736,565 (GRCm39) probably benign Het
Gp1ba A T 11: 70,531,859 (GRCm39) probably benign Het
Gucy1b1 A G 3: 81,945,218 (GRCm39) probably benign Het
Gucy2g T G 19: 55,229,598 (GRCm39) D24A probably benign Het
Hirip3 A G 7: 126,462,614 (GRCm39) K190R probably damaging Het
Hmmr T C 11: 40,596,781 (GRCm39) N717D probably damaging Het
Il12b A T 11: 44,301,045 (GRCm39) Y187F probably damaging Het
Iqgap1 A G 7: 80,388,070 (GRCm39) I859T probably benign Het
Jmjd1c T C 10: 67,055,105 (GRCm39) L175P probably damaging Het
Klc2 T C 19: 5,162,774 (GRCm39) M242V possibly damaging Het
Klf3 T C 5: 64,979,446 (GRCm39) M96T probably benign Het
Lrrc66 G T 5: 73,764,431 (GRCm39) H871N probably benign Het
Ltn1 A T 16: 87,222,528 (GRCm39) D168E probably benign Het
Mak T C 13: 41,186,072 (GRCm39) D532G probably damaging Het
Marchf6 A G 15: 31,462,151 (GRCm39) M859T probably benign Het
Meak7 T C 8: 120,489,089 (GRCm39) D398G possibly damaging Het
Mlxipl C A 5: 135,161,177 (GRCm39) N365K probably damaging Het
Mplkip T C 13: 17,870,337 (GRCm39) S90P possibly damaging Het
Myo5c A T 9: 75,176,807 (GRCm39) H584L probably benign Het
Myt1l A G 12: 29,901,719 (GRCm39) T228A possibly damaging Het
Nxpe3 A T 16: 55,686,592 (GRCm39) Y139N possibly damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or51f2 A G 7: 102,526,347 (GRCm39) T7A probably benign Het
Or8k40 T A 2: 86,584,981 (GRCm39) I34L probably damaging Het
Pak6 C T 2: 118,520,813 (GRCm39) S268F possibly damaging Het
Parp10 G A 15: 76,127,266 (GRCm39) A57V probably damaging Het
Pik3r3 T A 4: 116,113,465 (GRCm39) D69E probably damaging Het
Polr2a T G 11: 69,638,251 (GRCm39) K105T probably damaging Het
Prdm16 A T 4: 154,413,295 (GRCm39) probably benign Het
Prepl G A 17: 85,390,670 (GRCm39) T96I probably benign Het
Ret C T 6: 118,142,956 (GRCm39) probably benign Het
Rgl3 A T 9: 21,887,108 (GRCm39) D541E probably benign Het
Rps16 T A 7: 28,050,508 (GRCm39) L47Q probably damaging Het
Sbno2 A T 10: 79,904,687 (GRCm39) probably null Het
Scube1 A T 15: 83,505,264 (GRCm39) N385K probably damaging Het
Shank2 A G 7: 143,585,092 (GRCm39) E31G probably damaging Het
Slc38a9 G T 13: 112,865,791 (GRCm39) C496F possibly damaging Het
Snap47 A G 11: 59,328,813 (GRCm39) V163A probably damaging Het
Sntg2 T C 12: 30,251,260 (GRCm39) probably benign Het
Sp7 C A 15: 102,266,895 (GRCm39) V322F probably damaging Het
Spic T C 10: 88,511,924 (GRCm39) K111E probably damaging Het
Sqor T C 2: 122,639,947 (GRCm39) probably benign Het
St6galnac1 T A 11: 116,657,410 (GRCm39) M385L probably benign Het
Synpo2 A T 3: 122,873,511 (GRCm39) S1211T possibly damaging Het
Sytl2 T A 7: 90,045,797 (GRCm39) V638E probably damaging Het
Taar1 T A 10: 23,796,445 (GRCm39) S48T probably benign Het
Tbx18 T A 9: 87,611,706 (GRCm39) D108V possibly damaging Het
Tdh C T 14: 63,735,042 (GRCm39) probably benign Het
Tlr9 T A 9: 106,102,881 (GRCm39) L724Q probably benign Het
Tmem270 T A 5: 134,931,642 (GRCm39) Y100F probably benign Het
Trim65 G C 11: 116,015,430 (GRCm39) probably benign Het
Trrap A T 5: 144,742,560 (GRCm39) K1393* probably null Het
Ttc13 A G 8: 125,410,030 (GRCm39) V523A probably damaging Het
Utrn T A 10: 12,587,219 (GRCm39) D939V probably benign Het
Vmn1r46 G T 6: 89,953,935 (GRCm39) M261I probably benign Het
Vwa5a A G 9: 38,649,103 (GRCm39) probably null Het
Zfp108 A T 7: 23,960,149 (GRCm39) T247S probably benign Het
Zfp366 A T 13: 99,365,129 (GRCm39) I97F probably benign Het
Zfp986 C T 4: 145,625,513 (GRCm39) R58C 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
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
R0465:Rpa1 UTSW 11 75,203,921 (GRCm39) missense probably damaging 0.99
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'- CAGGCTCAGTGAATTTTCAAACACTGC -3'
(R):5'- CGAACACACCGTCCTGTTGATGAC -3'

Sequencing Primer
(F):5'- GTGAATTTTCAAACACTGCTTCAACC -3'
(R):5'- acagattgagcccagtgac -3'
Posted On 2013-04-11