Incidental Mutation 'R9470:Sertad1'
ID 715421
Institutional Source Beutler Lab
Gene Symbol Sertad1
Ensembl Gene ENSMUSG00000008384
Gene Name SERTA domain containing 1
Synonyms Sei-1, p34SEI-1, Trip-Br1, 1110032C13Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.356) question?
Stock # R9470 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 27186378-27189741 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27188871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 64 (L64P)
Ref Sequence ENSEMBL: ENSMUSP00000008528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008528] [ENSMUST00000135881]
AlphaFold Q9JL10
Predicted Effect probably damaging
Transcript: ENSMUST00000008528
AA Change: L64P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000008528
Gene: ENSMUSG00000008384
AA Change: L64P

DomainStartEndE-ValueType
Pfam:SERTA 45 82 5.2e-20 PFAM
low complexity region 98 119 N/A INTRINSIC
low complexity region 139 150 N/A INTRINSIC
low complexity region 165 178 N/A INTRINSIC
low complexity region 203 216 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000135881
AA Change: L64P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119180
Gene: ENSMUSG00000008384
AA Change: L64P

DomainStartEndE-ValueType
Pfam:SERTA 45 82 2.5e-20 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired glucose tolerance and decreased glucose-stimulated insulin secretion associated with decreased islet number and beta cell mass. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 T A 4: 129,903,074 (GRCm39) L558Q probably damaging Het
Apob A G 12: 8,039,219 (GRCm39) D483G possibly damaging Het
Arid1a T C 4: 133,413,057 (GRCm39) D994G unknown Het
Barx2 A T 9: 31,770,044 (GRCm39) Y161* probably null Het
Bmp7 G T 2: 172,711,960 (GRCm39) N421K probably damaging Het
Bod1l A T 5: 41,974,439 (GRCm39) C2292S probably damaging Het
Ces1c C T 8: 93,830,746 (GRCm39) probably null Het
Clca3b T C 3: 144,543,456 (GRCm39) T458A probably damaging Het
Cntnap5a T G 1: 116,374,344 (GRCm39) V952G probably damaging Het
Cyp2c54 T C 19: 40,060,888 (GRCm39) E85G probably damaging Het
Dmxl1 A G 18: 50,026,777 (GRCm39) K1962E possibly damaging Het
Dnajc13 A G 9: 104,107,919 (GRCm39) V254A probably benign Het
Dysf A T 6: 84,090,352 (GRCm39) I955F possibly damaging Het
Fam184b A G 5: 45,741,854 (GRCm39) S126P probably damaging Het
Gapvd1 A T 2: 34,602,280 (GRCm39) D622E possibly damaging Het
Ggta1 T C 2: 35,292,767 (GRCm39) Y180C probably damaging Het
Gpr31b A G 17: 13,270,845 (GRCm39) V108A probably damaging Het
Kcnu1 A G 8: 26,409,660 (GRCm39) Y861C probably benign Het
Mov10l1 T C 15: 88,904,518 (GRCm39) L799P probably damaging Het
Nkx1-1 G A 5: 33,591,275 (GRCm39) P16S unknown Het
Nos1 T C 5: 118,064,560 (GRCm39) L997P probably damaging Het
Noxred1 A G 12: 87,269,829 (GRCm39) Y301H possibly damaging Het
Nup50l T C 6: 96,142,474 (GRCm39) H190R possibly damaging Het
Or11g1 T C 14: 50,651,235 (GRCm39) V78A possibly damaging Het
Or52j3 G A 7: 102,836,270 (GRCm39) R154H probably benign Het
Or5ak4 A T 2: 85,161,673 (GRCm39) S190T probably damaging Het
Or5b113 A G 19: 13,342,115 (GRCm39) N41S probably damaging Het
Or6b6 A T 7: 106,571,461 (GRCm39) I30N probably benign Het
Paqr7 T C 4: 134,234,914 (GRCm39) V257A probably benign Het
Parp8 A T 13: 117,031,292 (GRCm39) S473R probably benign Het
Pcdhb14 A T 18: 37,581,076 (GRCm39) T61S probably benign Het
Pde11a G A 2: 75,821,612 (GRCm39) A889V probably benign Het
Potefam3e T A 8: 19,797,809 (GRCm39) S292T probably benign Het
Scart2 A G 7: 139,827,345 (GRCm39) T18A probably benign Het
Tmem156 C T 5: 65,237,531 (GRCm39) R43K probably damaging Het
Tmem82 T A 4: 141,342,341 (GRCm39) D287V probably damaging Het
Traf1 A G 2: 34,833,974 (GRCm39) F381L probably benign Het
Trim44 T C 2: 102,230,651 (GRCm39) S127G unknown Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Ubap2 G A 4: 41,195,434 (GRCm39) A1068V possibly damaging Het
Vmn1r47 T G 6: 89,999,777 (GRCm39) M303R probably null Het
Zc3h12d T C 10: 7,743,321 (GRCm39) S364P possibly damaging Het
Zdbf2 T A 1: 63,344,784 (GRCm39) N1054K possibly damaging Het
Zpbp A T 11: 11,358,541 (GRCm39) I242N probably damaging Het
Other mutations in Sertad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6351:Sertad1 UTSW 7 27,189,224 (GRCm39) missense possibly damaging 0.85
R7318:Sertad1 UTSW 7 27,188,910 (GRCm39) missense possibly damaging 0.86
R7567:Sertad1 UTSW 7 27,189,327 (GRCm39) missense possibly damaging 0.74
Predicted Primers PCR Primer
(F):5'- TTCCCATAACTGAATGGCTCC -3'
(R):5'- GTTGAGATCTTCCAGGAGGCTG -3'

Sequencing Primer
(F):5'- TGCTGAGCAAAGGTCTGAAGC -3'
(R):5'- TTCCAGGAGGCTGGCCATG -3'
Posted On 2022-06-15