Incidental Mutation 'IGL02071:Sectm1b'
ID185814
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sectm1b
Ensembl Gene ENSMUSG00000039364
Gene Namesecreted and transmembrane 1B
SynonymsK12, Sectm1, 1810003C24Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.047) question?
Stock #IGL02071
Quality Score
Status
Chromosome11
Chromosomal Location121053458-121063569 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 121055935 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 45 (V45I)
Ref Sequence ENSEMBL: ENSMUSP00000126486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039309] [ENSMUST00000081499] [ENSMUST00000130786] [ENSMUST00000168459] [ENSMUST00000170381]
Predicted Effect probably damaging
Transcript: ENSMUST00000039309
AA Change: V45I

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000045748
Gene: ENSMUSG00000039364
AA Change: V45I

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
IG 40 134 1.81e-1 SMART
transmembrane domain 161 183 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000081499
AA Change: V45I

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000080217
Gene: ENSMUSG00000039364
AA Change: V45I

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
IG 40 134 1.81e-1 SMART
transmembrane domain 161 183 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000130786
AA Change: V45I

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116010
Gene: ENSMUSG00000039364
AA Change: V45I

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
IG 40 134 1.81e-1 SMART
transmembrane domain 160 182 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132117
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136500
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150577
Predicted Effect probably damaging
Transcript: ENSMUST00000168459
AA Change: V45I

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125965
Gene: ENSMUSG00000039364
AA Change: V45I

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
IG 40 134 1.81e-1 SMART
transmembrane domain 161 183 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000170381
AA Change: V45I

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126486
Gene: ENSMUSG00000039364
AA Change: V45I

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
IG 40 134 1.81e-1 SMART
transmembrane domain 161 183 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat C T 16: 8,582,812 R92C probably damaging Het
Adam29 C A 8: 55,871,554 V622L possibly damaging Het
Bzw2 T C 12: 36,107,503 H321R probably benign Het
C2cd2 C T 16: 97,870,232 R489Q probably damaging Het
Ccdc129 C A 6: 55,967,725 S477* probably null Het
Cdh23 G A 10: 60,523,560 T253I possibly damaging Het
Col4a3 T G 1: 82,660,887 probably null Het
D630039A03Rik T C 4: 57,910,309 T168A possibly damaging Het
Dnajc19 A G 3: 34,078,765 L97P possibly damaging Het
Dpep2 A T 8: 105,985,144 H550Q probably benign Het
Dvl2 C A 11: 70,004,800 probably null Het
Fam234b A G 6: 135,227,151 probably null Het
Fxyd5 A G 7: 31,040,188 V32A possibly damaging Het
Mak16 A T 8: 31,160,529 S251T probably benign Het
Med10 T C 13: 69,815,628 V116A probably benign Het
Mycbp2 G A 14: 103,154,907 R50* probably null Het
Nckap5 G A 1: 125,981,568 P272L probably damaging Het
Nf1 T A 11: 79,444,121 V933E possibly damaging Het
Nrxn2 T A 19: 6,481,753 V749E probably damaging Het
Olfr1042 C A 2: 86,159,875 R165L probably benign Het
Olfr78 A C 7: 102,742,148 V285G probably damaging Het
Osbpl9 T C 4: 109,071,979 Y417C probably damaging Het
Otop1 G A 5: 38,287,983 A162T probably damaging Het
Patl1 C A 19: 11,939,690 P634T probably damaging Het
Ppl A T 16: 5,113,072 S28T probably benign Het
Prkar2b C T 12: 31,963,017 G367R probably damaging Het
Rbl2 G A 8: 91,102,198 V576I probably damaging Het
Rgl3 C T 9: 21,988,263 A53T probably benign Het
Rp1 T A 1: 4,345,310 I1860F possibly damaging Het
Sbno2 A T 10: 80,060,641 D877E probably damaging Het
Sfmbt2 G A 2: 10,577,952 V741I probably benign Het
Sugt1 T A 14: 79,610,283 L191* probably null Het
Tcf21 A T 10: 22,817,810 V156E possibly damaging Het
Tep1 T A 14: 50,834,049 R2046S possibly damaging Het
Tmem181a T C 17: 6,297,256 F241S probably damaging Het
Traf6 G A 2: 101,696,793 C296Y probably benign Het
Trim40 A G 17: 36,889,178 S3P probably benign Het
Ttll2 A T 17: 7,351,731 Y266N probably damaging Het
Vps54 A G 11: 21,275,071 N177S probably null Het
Other mutations in Sectm1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Sectm1b APN 11 121055973 missense probably benign 0.02
IGL00898:Sectm1b APN 11 121056249 missense probably damaging 1.00
R0243:Sectm1b UTSW 11 121055785 missense probably damaging 1.00
R1483:Sectm1b UTSW 11 121055826 missense probably benign 0.14
R1862:Sectm1b UTSW 11 121054942 missense possibly damaging 0.92
R4647:Sectm1b UTSW 11 121055934 missense probably damaging 1.00
R5927:Sectm1b UTSW 11 121055674 missense probably benign
R6011:Sectm1b UTSW 11 121055878 missense possibly damaging 0.66
Posted On2014-05-07