Incidental Mutation 'R1337:Sertad3'
ID 156903
Institutional Source Beutler Lab
Gene Symbol Sertad3
Ensembl Gene ENSMUSG00000055200
Gene Name SERTA domain containing 3
Synonyms Rbt1, Sei3
MMRRC Submission 039402-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.375) question?
Stock # R1337 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 27173265-27176789 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27175866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 100 (L100P)
Ref Sequence ENSEMBL: ENSMUSP00000068187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068641]
AlphaFold Q9ERC3
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

DomainStartEndE-ValueType
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: 25,719,033 (GRCm39) S37P unknown Het
Abca12 T C 1: 71,333,978 (GRCm39) I1175V probably benign Het
Ager G T 17: 34,819,596 (GRCm39) probably null Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Cacna1c A G 6: 118,604,416 (GRCm39) I1278T probably damaging Het
Casp8ap2 T C 4: 32,645,721 (GRCm39) V1598A possibly damaging Het
Cdk12 T C 11: 98,136,497 (GRCm39) probably null Het
Ces2g A T 8: 105,690,597 (GRCm39) Y126F possibly damaging Het
Ehbp1l1 A T 19: 5,768,258 (GRCm39) M1015K probably benign Het
Engase A G 11: 118,373,400 (GRCm39) T248A possibly damaging Het
Gsdma C T 11: 98,560,533 (GRCm39) Q162* probably null Het
Hapln3 T C 7: 78,767,824 (GRCm39) E190G probably benign Het
Hdc T C 2: 126,458,196 (GRCm39) Q42R probably benign Het
Larp1b C T 3: 40,987,837 (GRCm39) P20S probably damaging Het
Macf1 T G 4: 123,370,068 (GRCm39) R1564S probably benign Het
Muc5b A G 7: 141,412,361 (GRCm39) Y1769C unknown Het
Nup88 T A 11: 70,835,716 (GRCm39) Q576L probably damaging Het
Or51f1 T C 7: 102,506,078 (GRCm39) N137S probably benign Het
Or7g21 A G 9: 19,033,099 (GRCm39) I280V probably benign Het
Prune2 C T 19: 17,096,971 (GRCm39) S825L possibly damaging Het
Ryr3 C A 2: 112,610,308 (GRCm39) M2301I possibly damaging Het
Sdk2 A C 11: 113,723,157 (GRCm39) V1278G possibly damaging Het
Slco5a1 T C 1: 13,009,366 (GRCm39) T370A probably benign Het
Srrm1 A G 4: 135,074,044 (GRCm39) probably null Het
Stk32a A G 18: 43,394,414 (GRCm39) D121G probably benign Het
Ttc7 A T 17: 87,597,724 (GRCm39) R99W probably damaging Het
Xkr9 C A 1: 13,771,348 (GRCm39) S288Y possibly damaging Het
Zfp644 A G 5: 106,785,420 (GRCm39) S376P probably damaging Het
Other mutations in Sertad3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02090:Sertad3 APN 7 27,175,950 (GRCm39) missense probably benign 0.27
R1562:Sertad3 UTSW 7 27,176,048 (GRCm39) missense probably damaging 0.97
R2051:Sertad3 UTSW 7 27,175,694 (GRCm39) nonsense probably null
R4022:Sertad3 UTSW 7 27,176,120 (GRCm39) missense probably damaging 0.97
R4671:Sertad3 UTSW 7 27,176,091 (GRCm39) missense possibly damaging 0.81
R5053:Sertad3 UTSW 7 27,175,947 (GRCm39) missense probably benign 0.00
R5092:Sertad3 UTSW 7 27,176,145 (GRCm39) missense probably damaging 0.99
R8260:Sertad3 UTSW 7 27,175,784 (GRCm39) missense probably benign 0.00
R9478:Sertad3 UTSW 7 27,175,679 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTGCTCCGAATCTCTCTGGACAAAG -3'
(R):5'- GCAGGACAGTTTGTGGAATCCTGAC -3'

Sequencing Primer
(F):5'- AAAGTCCAGCGCAGCCTG -3'
(R):5'- GATCCCAGGATGATTTCCATGATG -3'
Posted On 2014-02-11