Incidental Mutation 'R6598:Prim1'
ID 525060
Institutional Source Beutler Lab
Gene Symbol Prim1
Ensembl Gene ENSMUSG00000025395
Gene Name DNA primase, p49 subunit
Synonyms
MMRRC Submission 044722-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.960) question?
Stock # R6598 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 127851084-127865899 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 127856049 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 165 (V165L)
Ref Sequence ENSEMBL: ENSMUSP00000136556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026461] [ENSMUST00000178041]
AlphaFold P20664
Predicted Effect possibly damaging
Transcript: ENSMUST00000026461
AA Change: V165L

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000026461
Gene: ENSMUSG00000025395
AA Change: V165L

DomainStartEndE-ValueType
Pfam:DNA_primase_S 108 336 9.7e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135580
Predicted Effect possibly damaging
Transcript: ENSMUST00000178041
AA Change: V165L

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136556
Gene: ENSMUSG00000025395
AA Change: V165L

DomainStartEndE-ValueType
Pfam:DNA_primase_S 108 336 3.3e-71 PFAM
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 100% (43/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The replication of DNA in eukaryotic cells is carried out by a complex chromosomal replication apparatus, in which DNA polymerase alpha and primase are two key enzymatic components. Primase, which is a heterodimer of a small subunit and a large subunit, synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication. The protein encoded by this gene is the small, 49 kDa primase subunit. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 A T 14: 56,007,502 (GRCm39) S943T probably benign Het
Adgrv1 T G 13: 81,654,298 (GRCm39) E2911A probably damaging Het
Ankrd28 A G 14: 31,430,896 (GRCm39) F819S probably damaging Het
Cald1 G A 6: 34,723,575 (GRCm39) probably null Het
Clca3a2 G T 3: 144,792,246 (GRCm39) Y338* probably null Het
Cmya5 C T 13: 93,226,316 (GRCm39) G2924D probably benign Het
Col6a4 A T 9: 105,877,611 (GRCm39) L2122Q probably damaging Het
Dapk1 T C 13: 60,909,161 (GRCm39) F1258S probably benign Het
Ddx39a T C 8: 84,449,556 (GRCm39) V387A probably benign Het
Dscam A G 16: 96,620,984 (GRCm39) C575R probably damaging Het
Dyrk4 C T 6: 126,853,289 (GRCm39) V632M probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Ermp1 A G 19: 29,609,902 (GRCm39) S111P possibly damaging Het
Fbxo40 A T 16: 36,789,376 (GRCm39) L578Q probably damaging Het
Frem1 A T 4: 82,932,065 (GRCm39) F212Y probably damaging Het
Golm2 A T 2: 121,763,966 (GRCm39) E247D probably damaging Het
Golm2 G A 2: 121,763,967 (GRCm39) E383K probably damaging Het
Icos T G 1: 61,033,856 (GRCm39) I162S possibly damaging Het
Kcnj8 G T 6: 142,515,959 (GRCm39) N49K probably damaging Het
Ldhb A T 6: 142,436,326 (GRCm39) M281K possibly damaging Het
Med17 T C 9: 15,182,996 (GRCm39) K350E probably benign Het
Mpo A T 11: 87,690,798 (GRCm39) N412I probably benign Het
Mrps24 A T 11: 5,654,713 (GRCm39) D80E probably benign Het
Myo5c A G 9: 75,153,516 (GRCm39) D134G probably damaging Het
Ndufs1 T C 1: 63,204,109 (GRCm39) Q140R probably null Het
Nsd1 T C 13: 55,441,515 (GRCm39) V1662A possibly damaging Het
Or10ag53 C T 2: 87,083,100 (GRCm39) T273I probably damaging Het
Or5p51 G A 7: 107,444,470 (GRCm39) L157F probably benign Het
Or6c88 C A 10: 129,407,238 (GRCm39) T238N probably damaging Het
Polq G A 16: 36,881,993 (GRCm39) A1386T probably benign Het
Ppil1 C A 17: 29,480,852 (GRCm39) V24F probably benign Het
Slc12a2 G A 18: 58,031,145 (GRCm39) V317I probably benign Het
Tbpl1 A G 10: 22,583,748 (GRCm39) V103A probably damaging Het
Tmprss11c C T 5: 86,437,092 (GRCm39) E10K probably benign Het
Unc80 T G 1: 66,507,699 (GRCm39) probably null Het
Uqcrc1 G T 9: 108,776,690 (GRCm39) V30F possibly damaging Het
Vmn1r88 T C 7: 12,912,150 (GRCm39) Y169H probably damaging Het
Zan A T 5: 137,404,626 (GRCm39) probably benign Het
Zc3h13 A G 14: 75,569,623 (GRCm39) D1490G probably damaging Het
Zer1 T A 2: 30,003,286 (GRCm39) S44C probably damaging Het
Zfp106 T A 2: 120,365,541 (GRCm39) K289* probably null Het
Zfp618 A G 4: 63,007,636 (GRCm39) Y155C probably damaging Het
Zfp979 A G 4: 147,698,223 (GRCm39) L162P probably damaging Het
Other mutations in Prim1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01775:Prim1 APN 10 127,865,112 (GRCm39) missense probably benign
IGL01896:Prim1 APN 10 127,858,758 (GRCm39) missense probably damaging 1.00
IGL02505:Prim1 APN 10 127,865,652 (GRCm39) makesense probably null
PIT4403001:Prim1 UTSW 10 127,858,745 (GRCm39) missense probably benign 0.01
R0563:Prim1 UTSW 10 127,862,423 (GRCm39) missense probably damaging 1.00
R1732:Prim1 UTSW 10 127,851,193 (GRCm39) missense probably damaging 1.00
R1976:Prim1 UTSW 10 127,859,668 (GRCm39) missense probably benign
R2263:Prim1 UTSW 10 127,851,132 (GRCm39) missense probably benign 0.13
R4774:Prim1 UTSW 10 127,862,887 (GRCm39) intron probably benign
R4976:Prim1 UTSW 10 127,851,131 (GRCm39) missense probably damaging 0.97
R5908:Prim1 UTSW 10 127,853,893 (GRCm39) missense probably damaging 1.00
R6356:Prim1 UTSW 10 127,859,704 (GRCm39) missense probably damaging 0.97
R6794:Prim1 UTSW 10 127,854,018 (GRCm39) missense probably damaging 0.97
R7179:Prim1 UTSW 10 127,851,845 (GRCm39) missense probably damaging 1.00
R7325:Prim1 UTSW 10 127,858,788 (GRCm39) missense probably null 0.13
R7432:Prim1 UTSW 10 127,851,885 (GRCm39) missense probably damaging 1.00
R7542:Prim1 UTSW 10 127,853,903 (GRCm39) missense probably damaging 1.00
R7659:Prim1 UTSW 10 127,862,458 (GRCm39) critical splice donor site probably null
R8382:Prim1 UTSW 10 127,856,138 (GRCm39) splice site probably null
R8828:Prim1 UTSW 10 127,859,761 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCTGAAGACCAATTTGAGTGGG -3'
(R):5'- CATGTGCAAGTACCTTTTAAAAGTAGC -3'

Sequencing Primer
(F):5'- CTGAAGACCAATTTGAGTGGGTTATC -3'
(R):5'- GGTAGCTCACAACCATCTGTAATG -3'
Posted On 2018-06-22