Incidental Mutation 'IGL01896:Prim1'
ID179415
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prim1
Ensembl Gene ENSMUSG00000025395
Gene NameDNA primase, p49 subunit
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.959) question?
Stock #IGL01896
Quality Score
Status
Chromosome10
Chromosomal Location128015168-128030037 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 128022889 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 222 (Y222C)
Ref Sequence ENSEMBL: ENSMUSP00000136556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026461] [ENSMUST00000178041]
Predicted Effect probably damaging
Transcript: ENSMUST00000026461
AA Change: Y222C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026461
Gene: ENSMUSG00000025395
AA Change: Y222C

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 noncoding transcript
Transcript: ENSMUST00000138330
Predicted Effect probably damaging
Transcript: ENSMUST00000178041
AA Change: Y222C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136556
Gene: ENSMUSG00000025395
AA Change: Y222C

DomainStartEndE-ValueType
Pfam:DNA_primase_S 108 336 3.3e-71 PFAM
Coding Region Coverage
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,225,158 F509Y possibly damaging Het
Acot11 T A 4: 106,771,367 I75F probably damaging Het
Atp1a2 T A 1: 172,286,011 N427Y probably damaging Het
Cd19 T C 7: 126,414,350 D89G possibly damaging Het
Clca1 T A 3: 145,015,677 T378S possibly damaging Het
Cltc A T 11: 86,725,133 C436S probably damaging Het
Def8 G A 8: 123,459,895 V429M probably benign Het
Dnah9 A T 11: 66,130,666 D311E possibly damaging Het
Dpy19l4 T C 4: 11,267,752 K396R possibly damaging Het
Eif4b T C 15: 102,095,286 S597P probably benign Het
Ezh1 A T 11: 101,213,755 N155K probably benign Het
Glud1 A G 14: 34,319,905 S157G probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm5600 T C 7: 113,707,984 noncoding transcript Het
Hnf4g T A 3: 3,651,410 V298E probably damaging Het
Hspd1 C T 1: 55,079,109 R446Q probably benign Het
Lyst A G 13: 13,635,577 I611V probably benign Het
Map4k3 T C 17: 80,613,931 E524G probably benign Het
Mepe A G 5: 104,338,269 D425G possibly damaging Het
Myo1a G T 10: 127,719,904 V921L probably benign Het
Plxdc1 A T 11: 97,924,582 M470K probably damaging Het
Ptpn13 A G 5: 103,501,523 N264S possibly damaging Het
Qrsl1 T C 10: 43,876,504 D441G probably benign Het
Samd9l G T 6: 3,375,120 Q714K probably benign Het
Scrib T C 15: 76,066,118 E293G possibly damaging Het
Slc12a2 T A 18: 57,896,308 N255K probably benign Het
Slc6a6 T C 6: 91,726,069 I141T probably damaging Het
Slc9a1 T C 4: 133,418,059 L485P probably damaging Het
Slfn8 A T 11: 83,003,696 Y706N probably damaging Het
Tlr5 T C 1: 182,974,879 F583L possibly damaging Het
Tmprss15 A G 16: 79,090,790 V43A probably benign Het
Ttc24 T C 3: 88,070,413 probably null Het
Ttc7 A G 17: 87,359,124 T606A probably damaging Het
Ubap2 G T 4: 41,202,362 P689T possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wfdc8 A T 2: 164,605,780 M120K probably damaging Het
Other mutations in Prim1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01775:Prim1 APN 10 128029243 missense probably benign
IGL02505:Prim1 APN 10 128029783 makesense probably null
PIT4403001:Prim1 UTSW 10 128022876 missense probably benign 0.01
R0563:Prim1 UTSW 10 128026554 missense probably damaging 1.00
R1732:Prim1 UTSW 10 128015324 missense probably damaging 1.00
R1976:Prim1 UTSW 10 128023799 missense probably benign
R2263:Prim1 UTSW 10 128015263 missense probably benign 0.13
R4774:Prim1 UTSW 10 128027018 intron probably benign
R4976:Prim1 UTSW 10 128015262 missense probably damaging 0.97
R5908:Prim1 UTSW 10 128018024 missense probably damaging 1.00
R6356:Prim1 UTSW 10 128023835 missense probably damaging 0.97
R6598:Prim1 UTSW 10 128020180 missense possibly damaging 0.83
R6794:Prim1 UTSW 10 128018149 missense probably damaging 0.97
R7179:Prim1 UTSW 10 128015976 missense probably damaging 1.00
R7325:Prim1 UTSW 10 128022919 missense probably null 0.13
R7432:Prim1 UTSW 10 128016016 missense probably damaging 1.00
R7542:Prim1 UTSW 10 128018034 missense probably damaging 1.00
R7659:Prim1 UTSW 10 128026589 critical splice donor site probably null
Posted On2014-05-07