Incidental Mutation 'R6409:Sertm1'
ID 514767
Institutional Source Beutler Lab
Gene Symbol Sertm1
Ensembl Gene ENSMUSG00000056306
Gene Name serine rich and transmembrane domain containing 1
Synonyms 6030405A18Rik
MMRRC Submission 044554-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R6409 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 54804489-54823308 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54806788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 79 (Y79C)
Ref Sequence ENSEMBL: ENSMUSP00000124102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070342] [ENSMUST00000162201]
AlphaFold Q8CD78
Predicted Effect probably benign
Transcript: ENSMUST00000070342
AA Change: Y79C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000064870
Gene: ENSMUSG00000056306
AA Change: Y79C

DomainStartEndE-ValueType
low complexity region 25 39 N/A INTRINSIC
transmembrane domain 41 63 N/A INTRINSIC
low complexity region 71 81 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162201
AA Change: Y79C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124102
Gene: ENSMUSG00000056306
AA Change: Y79C

DomainStartEndE-ValueType
Pfam:SRTM1 1 106 3.6e-59 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 97% (32/33)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk G T 11: 119,902,558 (GRCm39) Q556K probably benign Het
Adgrf3 A G 5: 30,402,312 (GRCm39) V572A probably damaging Het
Ahnak G A 19: 8,986,938 (GRCm39) V2741M probably benign Het
Ascc3 T C 10: 50,721,676 (GRCm39) V2043A probably benign Het
B3glct C T 5: 149,658,916 (GRCm39) R239C probably benign Het
Cacna2d4 T A 6: 119,259,189 (GRCm39) V626E probably damaging Het
Cdcp3 G A 7: 130,863,800 (GRCm39) probably benign Het
Cfap54 T C 10: 92,803,354 (GRCm39) N1563D probably benign Het
Duox2 G C 2: 122,115,148 (GRCm39) H1110D probably damaging Het
Inppl1 A T 7: 101,478,168 (GRCm39) F648I probably damaging Het
Mefv C A 16: 3,528,657 (GRCm39) probably null Het
Ms4a4b T C 19: 11,438,724 (GRCm39) probably null Het
Mtus2 T C 5: 148,014,425 (GRCm39) V406A probably benign Het
Nup88 T C 11: 70,835,798 (GRCm39) R554G probably null Het
Or1x2 A G 11: 50,918,015 (GRCm39) Y62C probably damaging Het
Or4d10 C T 19: 12,052,111 (GRCm39) probably benign Het
Or8h8 A T 2: 86,753,515 (GRCm39) Y120* probably null Het
Pde10a A G 17: 9,168,270 (GRCm39) D246G probably damaging Het
Pmm1 T C 15: 81,845,008 (GRCm39) T9A probably benign Het
Pramel19 C T 4: 101,797,874 (GRCm39) Q91* probably null Het
Psg18 T C 7: 18,087,446 (GRCm39) M71V probably benign Het
Rapgef4 A G 2: 72,008,581 (GRCm39) H253R probably benign Het
Rfc4 T C 16: 22,932,823 (GRCm39) *371W probably null Het
Rgs18 T A 1: 144,650,931 (GRCm39) K17* probably null Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Sfrp1 T C 8: 23,907,394 (GRCm39) I198T possibly damaging Het
Slc15a2 T A 16: 36,582,232 (GRCm39) I254F probably benign Het
Slc29a4 A G 5: 142,697,826 (GRCm39) D93G probably damaging Het
Smo T C 6: 29,736,113 (GRCm39) L35S unknown Het
Tbc1d8 A G 1: 39,411,669 (GRCm39) S1056P probably benign Het
Ttll9 A G 2: 152,841,261 (GRCm39) D286G probably damaging Het
Vmn2r14 A G 5: 109,364,096 (GRCm39) Y607H probably benign Het
Vps8 T A 16: 21,297,189 (GRCm39) C564S probably benign Het
Zc3h12d A G 10: 7,743,082 (GRCm39) H284R probably benign Het
Zfp106 A T 2: 120,362,585 (GRCm39) S79T probably damaging Het
Other mutations in Sertm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4404:Sertm1 UTSW 3 54,806,746 (GRCm39) missense probably damaging 0.98
R7478:Sertm1 UTSW 3 54,806,749 (GRCm39) missense possibly damaging 0.92
R8849:Sertm1 UTSW 3 54,806,749 (GRCm39) missense possibly damaging 0.92
R9335:Sertm1 UTSW 3 54,806,929 (GRCm39) missense probably damaging 1.00
X0067:Sertm1 UTSW 3 54,806,976 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGCTCCTCTCTTCACAAAAGAAG -3'
(R):5'- AGCTGTTTCCCACATCGCTG -3'

Sequencing Primer
(F):5'- GAGGAAAACAGGTCTGCCC -3'
(R):5'- ACATCGCTGTCCACGTCG -3'
Posted On 2018-05-04