Incidental Mutation 'R2023:Sectm1a'
ID 220168
Institutional Source Beutler Lab
Gene Symbol Sectm1a
Ensembl Gene ENSMUSG00000025165
Gene Name secreted and transmembrane 1A
Synonyms
MMRRC Submission 040032-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R2023 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 120958233-120972046 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 120960408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026162] [ENSMUST00000100126] [ENSMUST00000106119] [ENSMUST00000106120]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000026162
SMART Domains Protein: ENSMUSP00000026162
Gene: ENSMUSG00000025165

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 probably benign
Transcript: ENSMUST00000106119
SMART Domains Protein: ENSMUSP00000101725
Gene: ENSMUSG00000025165

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
transmembrane domain 62 84 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106120
SMART Domains Protein: ENSMUSP00000101726
Gene: ENSMUSG00000025165

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149917
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.4%
Validation Efficiency 97% (60/62)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,839,247 (GRCm39) S447P possibly damaging Het
9930111J21Rik2 A G 11: 48,911,144 (GRCm39) F430L probably benign Het
Acap2 A G 16: 30,938,233 (GRCm39) V297A probably damaging Het
Adam3 G A 8: 25,179,479 (GRCm39) R613C possibly damaging Het
Akt1 C T 12: 112,626,071 (GRCm39) R67Q probably benign Het
Ambp T C 4: 63,069,702 (GRCm39) Y108C probably damaging Het
Apob A G 12: 8,061,090 (GRCm39) I3158V probably benign Het
Bank1 T C 3: 136,031,679 (GRCm39) T8A probably benign Het
Casp8ap2 T C 4: 32,644,560 (GRCm39) V1211A probably benign Het
Ccdc88a G T 11: 29,413,546 (GRCm39) E695* probably null Het
Cep68 A C 11: 20,189,888 (GRCm39) S375A probably benign Het
Cfap44 A G 16: 44,236,375 (GRCm39) I417V probably benign Het
Chrna2 T A 14: 66,379,677 (GRCm39) H5Q probably benign Het
Cog7 A T 7: 121,536,193 (GRCm39) I549K probably damaging Het
Col28a1 C A 6: 8,083,783 (GRCm39) S558I possibly damaging Het
Cyp4f14 A G 17: 33,125,505 (GRCm39) I385T probably damaging Het
Dynlt4 A G 4: 116,985,504 (GRCm39) E109G possibly damaging Het
Erap1 T A 13: 74,814,627 (GRCm39) V451E probably benign Het
Frem1 G T 4: 82,831,795 (GRCm39) T1988K probably benign Het
Gm10277 TC T 11: 77,676,828 (GRCm39) probably null Het
Gm5616 A G 9: 48,361,928 (GRCm39) noncoding transcript Het
Gm5709 T C 3: 59,543,142 (GRCm39) noncoding transcript Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hsd11b1 T C 1: 192,922,686 (GRCm39) T124A probably benign Het
Itpr3 T A 17: 27,321,785 (GRCm39) M1054K possibly damaging Het
Kars1 T C 8: 112,728,484 (GRCm39) N200S probably benign Het
Kdm2a C A 19: 4,372,492 (GRCm39) R951L probably damaging Het
Ldhd T A 8: 112,356,578 (GRCm39) H61L probably damaging Het
Macf1 G T 4: 123,366,523 (GRCm39) A2746E probably damaging Het
Micall2 A G 5: 139,703,266 (GRCm39) V190A possibly damaging Het
Mis18bp1 A T 12: 65,195,883 (GRCm39) V627E probably damaging Het
Muc4 A T 16: 32,574,054 (GRCm39) T711S probably benign Het
Notch4 T C 17: 34,806,502 (GRCm39) L1813P probably damaging Het
Nox3 A G 17: 3,744,296 (GRCm39) probably benign Het
Or4b1d G T 2: 89,969,200 (GRCm39) C94* probably null Het
Or5p63 A G 7: 107,811,049 (GRCm39) L229P probably damaging Het
Or6c1b T A 10: 129,273,451 (GRCm39) Y257N probably damaging Het
Osbpl2 C A 2: 179,791,969 (GRCm39) probably null Het
Pamr1 T A 2: 102,464,880 (GRCm39) M343K probably benign Het
Pcdh15 T G 10: 74,467,025 (GRCm39) S1684A possibly damaging Het
Pgr T A 9: 8,958,399 (GRCm39) V802D probably damaging Het
Pgs1 A G 11: 117,893,228 (GRCm39) E55G probably benign Het
Pkd2 T A 5: 104,614,744 (GRCm39) probably null Het
Ppp3r2 T C 4: 49,681,723 (GRCm39) I76V probably benign Het
Ptprd C T 4: 75,875,341 (GRCm39) E1240K probably damaging Het
Recql5 G A 11: 115,784,466 (GRCm39) T878I probably benign Het
Rnf17 A G 14: 56,669,036 (GRCm39) D233G possibly damaging Het
Smo A G 6: 29,754,715 (GRCm39) N262D possibly damaging Het
Srcin1 A G 11: 97,416,872 (GRCm39) S931P probably benign Het
Tcof1 C T 18: 60,966,605 (GRCm39) G329R probably damaging Het
Thsd7a G A 6: 12,327,535 (GRCm39) H1446Y probably benign Het
Tlr11 A G 14: 50,600,026 (GRCm39) T671A probably damaging Het
Tmem171 C A 13: 98,828,733 (GRCm39) W139L probably damaging Het
Vmn2r101 C T 17: 19,810,368 (GRCm39) R385* probably null Het
Vps13c A T 9: 67,843,567 (GRCm39) probably benign Het
Wdr87-ps G T 7: 29,230,959 (GRCm39) noncoding transcript Het
Zfp287 A C 11: 62,605,808 (GRCm39) Y366* probably null Het
Zfp456 A T 13: 67,514,616 (GRCm39) C363* probably null Het
Zfp523 A G 17: 28,419,978 (GRCm39) probably benign Het
Zfp667 A C 7: 6,308,416 (GRCm39) K361N possibly damaging 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
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
R7712:Sectm1a UTSW 11 120,959,631 (GRCm39) missense probably damaging 0.99
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'- CTGGACAGTGGAGACTCTTTC -3'
(R):5'- TTCACCGATGTCACCATCCAG -3'

Sequencing Primer
(F):5'- GGACAGTGGAGACTCTTTCCACAC -3'
(R):5'- CCAGCTGTCTGCCAATGGAAAG -3'
Posted On 2014-08-25