Incidental Mutation 'R7712:Sectm1a'
ID 594697
Institutional Source Beutler Lab
Gene Symbol Sectm1a
Ensembl Gene ENSMUSG00000025165
Gene Name secreted and transmembrane 1A
Synonyms
MMRRC Submission 045770-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R7712 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 120958233-120972046 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 120959631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 166 (L166F)
Ref Sequence ENSEMBL: ENSMUSP00000026162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026162] [ENSMUST00000100126] [ENSMUST00000106119] [ENSMUST00000106120]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000026162
AA Change: L166F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000026162
Gene: ENSMUSG00000025165
AA Change: L166F

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Blast:IG 39 133 2e-64 BLAST
SCOP:d1biha2 42 114 3e-3 SMART
transmembrane domain 165 187 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100126
SMART Domains Protein: ENSMUSP00000097702
Gene: ENSMUSG00000025165

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000106119
AA Change: L63F

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101725
Gene: ENSMUSG00000025165
AA Change: L63F

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
transmembrane domain 62 84 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106120
AA Change: L148F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101726
Gene: ENSMUSG00000025165
AA Change: L148F

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Blast:IG 39 133 2e-64 BLAST
SCOP:d1biha2 42 114 2e-3 SMART
transmembrane domain 147 169 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane and secreted protein with characteristics of a type 1a transmembrane protein. It is found in a perinuclear Golgi-like pattern and thought to be involved in hematopoietic and/or immune system processes. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A C 5: 114,303,799 (GRCm39) D74A probably benign Het
Alox15 T C 11: 70,241,079 (GRCm39) probably null Het
Ano5 A G 7: 51,222,805 (GRCm39) T455A probably benign Het
Ano5 T G 7: 51,240,403 (GRCm39) I827S probably damaging Het
Arid1a G A 4: 133,479,922 (GRCm39) A334V probably benign Het
Atp13a4 A G 16: 29,278,305 (GRCm39) C298R Het
Atp4a T A 7: 30,414,978 (GRCm39) S256T probably damaging Het
Atp6v1c1 G A 15: 38,687,049 (GRCm39) V215I probably benign Het
Bbs9 T A 9: 22,582,109 (GRCm39) F600L probably benign Het
Bmp8b A T 4: 123,018,257 (GRCm39) Y376F possibly damaging Het
Cacna2d1 A T 5: 16,567,347 (GRCm39) D986V probably damaging Het
Ccdc162 A G 10: 41,503,223 (GRCm39) F973S possibly damaging Het
Ccdc177 G A 12: 80,804,712 (GRCm39) Q521* probably null Het
Cd209b T A 8: 3,973,299 (GRCm39) E158D possibly damaging Het
Cdk14 G A 5: 5,430,061 (GRCm39) T22I possibly damaging Het
Chl1 A T 6: 103,688,063 (GRCm39) I968F possibly damaging Het
Cnot7 T C 8: 40,947,122 (GRCm39) Y255C probably damaging Het
Col4a2 T A 8: 11,475,376 (GRCm39) L600H probably benign Het
Cpne7 C A 8: 123,850,920 (GRCm39) L129M probably damaging Het
Cpxm2 G T 7: 131,756,107 (GRCm39) P79Q possibly damaging Het
Dhx9 T A 1: 153,340,747 (GRCm39) N631I probably benign Het
Dmxl1 T C 18: 50,026,528 (GRCm39) S1879P probably damaging Het
Dnhd1 T A 7: 105,300,831 (GRCm39) F63I probably benign Het
Dok7 A G 5: 35,223,866 (GRCm39) N98S probably damaging Het
Fgd2 A G 17: 29,595,886 (GRCm39) T515A probably benign Het
Fmo1 T C 1: 162,663,704 (GRCm39) D275G probably benign Het
Gm5796 A G 14: 15,379,960 (GRCm39) Y90C probably damaging Het
H60b C A 10: 22,161,637 (GRCm39) H42N possibly damaging Het
Hipk2 A G 6: 38,680,569 (GRCm39) S924P probably benign Het
Hpf1 C A 8: 61,358,613 (GRCm39) S27* probably null Het
Idua T G 5: 108,829,388 (GRCm39) D443E probably benign Het
Lamc2 C T 1: 153,009,357 (GRCm39) G816D possibly damaging Het
Lgi3 T A 14: 70,768,551 (GRCm39) V16E unknown Het
Lpar1 T A 4: 58,486,795 (GRCm39) M159L probably benign Het
Magi2 A G 5: 20,755,280 (GRCm39) D618G possibly damaging Het
Man2b2 C G 5: 36,967,658 (GRCm39) Q903H probably benign Het
Marchf7 A T 2: 60,065,334 (GRCm39) K537* probably null Het
Mcoln1 T C 8: 3,555,873 (GRCm39) F56S probably damaging Het
Myh7 C G 14: 55,226,258 (GRCm39) D461H probably damaging Het
Myo1b A T 1: 51,832,836 (GRCm39) M383K probably damaging Het
Or12k7 A T 2: 36,958,916 (GRCm39) T200S probably damaging Het
Or1f19 T C 16: 3,410,295 (GRCm39) F12L probably damaging Het
Or8a1b T C 9: 37,623,429 (GRCm39) I49V probably damaging Het
Pars2 T A 4: 106,511,276 (GRCm39) Y353N probably damaging Het
Pcdha8 A C 18: 37,125,737 (GRCm39) D73A possibly damaging Het
Pcdhga8 C T 18: 37,860,102 (GRCm39) T386M possibly damaging Het
Pdzd2 G T 15: 12,407,422 (GRCm39) T346N probably damaging Het
Pik3c2b A G 1: 133,013,349 (GRCm39) Q781R probably damaging Het
Pp2d1 T A 17: 53,815,318 (GRCm39) T469S possibly damaging Het
Sgms1 T A 19: 32,120,169 (GRCm39) M246L probably benign Het
Shroom3 G A 5: 93,098,806 (GRCm39) G1429S probably benign Het
Snx17 T A 5: 31,352,804 (GRCm39) F101Y probably damaging Het
Sowahb C T 5: 93,191,240 (GRCm39) S493N probably benign Het
Spc25 T A 2: 69,036,481 (GRCm39) R7S unknown Het
Sult2b1 A G 7: 45,379,620 (GRCm39) I308T probably benign Het
Tkt A G 14: 30,280,763 (GRCm39) N65D probably benign Het
Ttc5 A T 14: 51,010,769 (GRCm39) S221T probably benign Het
Ubr5 G A 15: 37,980,076 (GRCm39) A2434V probably null Het
Wipf1 A C 2: 73,274,805 (GRCm39) S55R probably damaging Het
Zdbf2 T C 1: 63,344,530 (GRCm39) S970P possibly damaging Het
Zfp354c TCACACTCGGCACA TCACA 11: 50,706,067 (GRCm39) probably benign Het
Zfp362 A T 4: 128,671,203 (GRCm39) H313Q probably benign Het
Zfy2 T A Y: 2,121,420 (GRCm39) I158F probably benign Het
Other mutations in Sectm1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01664:Sectm1a APN 11 120,959,870 (GRCm39) missense possibly damaging 0.55
R0571:Sectm1a UTSW 11 120,959,928 (GRCm39) intron probably benign
R1987:Sectm1a UTSW 11 120,960,506 (GRCm39) missense probably damaging 1.00
R2023:Sectm1a UTSW 11 120,960,408 (GRCm39) splice site probably benign
R3157:Sectm1a UTSW 11 120,959,603 (GRCm39) missense probably benign 0.19
R3158:Sectm1a UTSW 11 120,959,603 (GRCm39) missense probably benign 0.19
R4463:Sectm1a UTSW 11 120,960,477 (GRCm39) missense probably benign
R4664:Sectm1a UTSW 11 120,960,552 (GRCm39) missense possibly damaging 0.76
R7241:Sectm1a UTSW 11 120,960,708 (GRCm39) missense possibly damaging 0.46
R7418:Sectm1a UTSW 11 120,960,119 (GRCm39) splice site probably null
R8990:Sectm1a UTSW 11 120,960,701 (GRCm39) missense probably damaging 1.00
R9100:Sectm1a UTSW 11 120,960,569 (GRCm39) missense possibly damaging 0.90
R9200:Sectm1a UTSW 11 120,960,473 (GRCm39) missense probably damaging 1.00
R9718:Sectm1a UTSW 11 120,960,490 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCTTTTGTGGCAGAACGCAG -3'
(R):5'- GTTATGCATTCCAGCCGCTC -3'

Sequencing Primer
(F):5'- GGCTCACCCCAAAGCAGTTG -3'
(R):5'- TGATGCCATGGAGCCGAG -3'
Posted On 2019-11-12