Incidental Mutation 'IGL01664:Sectm1a'
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ID103265
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sectm1a
Ensembl Gene ENSMUSG00000025165
Gene Namesecreted and transmembrane 1A
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL01664
Quality Score
Status
Chromosome11
Chromosomal Location121067407-121081220 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 121069044 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 149 (S149T)
Ref Sequence ENSEMBL: ENSMUSP00000026162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026162] [ENSMUST00000100126] [ENSMUST00000106119] [ENSMUST00000106120]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026162
AA Change: S149T

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000026162
Gene: ENSMUSG00000025165
AA Change: S149T

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 unknown
Transcript: ENSMUST00000100126
AA Change: S46T
SMART Domains Protein: ENSMUSP00000097702
Gene: ENSMUSG00000025165
AA Change: S46T

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106119
AA Change: S46T

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101725
Gene: ENSMUSG00000025165
AA Change: S46T

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
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Col19a1 T A 1: 24,561,335 Y42F unknown Het
Ddx31 T C 2: 28,875,835 probably benign Het
Fbln2 G A 6: 91,233,457 D128N probably damaging Het
Fgf7 G T 2: 126,035,987 M91I probably benign Het
Gm28539 A G 16: 18,836,773 H31R possibly damaging Het
Hivep1 T G 13: 42,159,279 V1665G probably benign Het
Ifih1 T C 2: 62,611,700 probably benign Het
Il10 G T 1: 131,021,477 R125L possibly damaging Het
Kalrn C T 16: 34,294,161 R574H probably damaging Het
Lmln A G 16: 33,080,987 E251G probably benign Het
Olfr1507 T C 14: 52,490,545 N57D probably benign Het
Olfr668 T C 7: 104,925,104 Y220C probably damaging Het
Olfr681 T A 7: 105,122,216 L253Q probably damaging Het
Otol1 A G 3: 70,027,797 D374G probably benign Het
Pcdhb15 T C 18: 37,474,261 V182A probably benign Het
Polr3e T C 7: 120,931,317 probably benign Het
Slfn10-ps A G 11: 83,035,935 noncoding transcript Het
Sox1ot A G 8: 12,430,670 noncoding transcript Het
Tnik G T 3: 28,638,479 G895C probably damaging Het
Other mutations in Sectm1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0571:Sectm1a UTSW 11 121069102 intron probably benign
R1987:Sectm1a UTSW 11 121069680 missense probably damaging 1.00
R2023:Sectm1a UTSW 11 121069582 splice site probably benign
R3157:Sectm1a UTSW 11 121068777 missense probably benign 0.19
R3158:Sectm1a UTSW 11 121068777 missense probably benign 0.19
R4463:Sectm1a UTSW 11 121069651 missense probably benign
R4664:Sectm1a UTSW 11 121069726 missense possibly damaging 0.76
R7241:Sectm1a UTSW 11 121069882 missense possibly damaging 0.46
R7418:Sectm1a UTSW 11 121069293 intron probably null
R7712:Sectm1a UTSW 11 121068805 missense probably damaging 0.99
Posted On2014-01-21