Incidental Mutation 'R1337:Sertad3'
Institutional Source Beutler Lab
Gene Symbol Sertad3
Ensembl Gene ENSMUSG00000055200
Gene NameSERTA domain containing 3
SynonymsSei3, Rbt1
MMRRC Submission 039402-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.375) question?
Stock #R1337 (G1)
Quality Score225
Status Not validated
Chromosomal Location27473768-27477364 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 27476441 bp
Amino Acid Change Leucine to Proline at position 100 (L100P)
Ref Sequence ENSEMBL: ENSMUSP00000068187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068641]
Predicted Effect probably damaging
Transcript: ENSMUST00000068641
AA Change: L100P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000068187
Gene: ENSMUSG00000055200
AA Change: L100P

Pfam:SERTA 34 71 2e-17 PFAM
low complexity region 143 156 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was identified in a yeast two-hybrid assay employing the second subunit of human replication protein A as bait. It is localized to the nucleus and its expression is significantly higher in cancer cell lines compared to normal cell lines. This protein has also been shown to be a strong transcriptional co-activator. Alternative splicing has been observed at this locus and two variants, both encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730522E02Rik A G 11: 25,769,033 S37P unknown Het
Abca12 T C 1: 71,294,819 I1175V probably benign Het
Ager G T 17: 34,600,622 probably null Het
Amph G A 13: 19,142,028 V643M probably damaging Het
Cacna1c A G 6: 118,627,455 I1278T probably damaging Het
Casp8ap2 T C 4: 32,645,721 V1598A possibly damaging Het
Cdk12 T C 11: 98,245,671 probably null Het
Ces2g A T 8: 104,963,965 Y126F possibly damaging Het
Ehbp1l1 A T 19: 5,718,230 M1015K probably benign Het
Engase A G 11: 118,482,574 T248A possibly damaging Het
Gsdma C T 11: 98,669,707 Q162* probably null Het
Hapln3 T C 7: 79,118,076 E190G probably benign Het
Hdc T C 2: 126,616,276 Q42R probably benign Het
Larp1b C T 3: 41,033,402 P20S probably damaging Het
Macf1 T G 4: 123,476,275 R1564S probably benign Het
Muc5b A G 7: 141,858,624 Y1769C unknown Het
Nup88 T A 11: 70,944,890 Q576L probably damaging Het
Olfr566 T C 7: 102,856,871 N137S probably benign Het
Olfr836 A G 9: 19,121,803 I280V probably benign Het
Prune2 C T 19: 17,119,607 S825L possibly damaging Het
Ryr3 C A 2: 112,779,963 M2301I possibly damaging Het
Sdk2 A C 11: 113,832,331 V1278G possibly damaging Het
Slco5a1 T C 1: 12,939,142 T370A probably benign Het
Srrm1 A G 4: 135,346,733 probably null Het
Stk32a A G 18: 43,261,349 D121G probably benign Het
Ttc7 A T 17: 87,290,296 R99W probably damaging Het
Xkr9 C A 1: 13,701,124 S288Y possibly damaging Het
Zfp644 A G 5: 106,637,554 S376P probably damaging Het
Other mutations in Sertad3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02090:Sertad3 APN 7 27476525 missense probably benign 0.27
R1562:Sertad3 UTSW 7 27476623 missense probably damaging 0.97
R2051:Sertad3 UTSW 7 27476269 nonsense probably null
R4022:Sertad3 UTSW 7 27476695 missense probably damaging 0.97
R4671:Sertad3 UTSW 7 27476666 missense possibly damaging 0.81
R5053:Sertad3 UTSW 7 27476522 missense probably benign 0.00
R5092:Sertad3 UTSW 7 27476720 missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
Posted On2014-02-11