Incidental Mutation 'IGL00481:Sectm1b'
ID4453
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: 0.039) question?
Stock #IGL00481
Quality Score
Status
Chromosome11
Chromosomal Location121053458-121063569 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 121055973 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 32 (V32A)
Ref Sequence ENSEMBL: ENSMUSP00000126486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039309] [ENSMUST00000081499] [ENSMUST00000130786] [ENSMUST00000168459] [ENSMUST00000170381]
Predicted Effect probably benign
Transcript: ENSMUST00000039309
AA Change: V32A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000045748
Gene: ENSMUSG00000039364
AA Change: V32A

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 benign
Transcript: ENSMUST00000081499
AA Change: V32A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000080217
Gene: ENSMUSG00000039364
AA Change: V32A

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 benign
Transcript: ENSMUST00000130786
AA Change: V32A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000116010
Gene: ENSMUSG00000039364
AA Change: V32A

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 benign
Transcript: ENSMUST00000168459
AA Change: V32A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000125965
Gene: ENSMUSG00000039364
AA Change: V32A

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 benign
Transcript: ENSMUST00000170381
AA Change: V32A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000126486
Gene: ENSMUSG00000039364
AA Change: V32A

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931440F15Rik A G 11: 29,824,755 L234P probably damaging Het
9230110C19Rik T C 9: 8,042,431 Y57C probably damaging Het
Abca13 T C 11: 9,290,969 L944P probably damaging Het
Akap13 A G 7: 75,723,895 S1885G probably damaging Het
Aqp3 A G 4: 41,093,632 Y261H probably damaging Het
Arap2 A T 5: 62,635,962 N1380K probably damaging Het
Arntl2 T A 6: 146,809,666 M56K probably benign Het
Barx2 T C 9: 31,846,845 I266V unknown Het
BC034090 C T 1: 155,232,521 R360H probably benign Het
Ccnb2 T C 9: 70,418,907 K52E probably damaging Het
Ccp110 G A 7: 118,729,997 V868I possibly damaging Het
Cyld G T 8: 88,707,290 V236F probably damaging Het
Dst T C 1: 34,169,329 probably benign Het
Ehmt1 G T 2: 24,838,818 A637E possibly damaging Het
Erlin1 G T 19: 44,069,319 Y22* probably null Het
Ezh1 A T 11: 101,199,302 M539K possibly damaging Het
Fam160b1 A G 19: 57,381,345 E440G probably benign Het
Fancc A T 13: 63,400,245 I80N probably damaging Het
Fat1 G A 8: 45,050,940 S4447N probably benign Het
Frem3 A G 8: 80,668,810 Q1822R possibly damaging Het
Iqgap1 C T 7: 80,759,844 V248I probably benign Het
Itch T C 2: 155,213,023 I749T probably damaging Het
Kcna10 T A 3: 107,195,514 M487K probably benign Het
Krt83 A T 15: 101,488,211 L223Q probably benign Het
Mtmr2 T C 9: 13,785,916 I84T probably benign Het
Myocd G A 11: 65,187,154 T477M probably damaging Het
Nfic A T 10: 81,408,220 V240E possibly damaging Het
Olfr463 A G 11: 87,893,621 I101T possibly damaging Het
Prkdc A T 16: 15,790,466 Y3044F probably benign Het
Prkg1 A G 19: 30,571,622 I636T probably benign Het
Ptpru A G 4: 131,808,235 V477A probably benign Het
Rab7b T A 1: 131,698,591 M119K possibly damaging Het
Sec61a1 T C 6: 88,506,940 probably benign Het
Shroom2 A G X: 152,623,223 S1034P probably benign Het
Sipa1l3 A T 7: 29,386,108 I688N probably damaging Het
Slc24a1 T C 9: 64,928,019 Y942C probably damaging Het
Smg1 C T 7: 118,210,794 R139K possibly damaging Het
Stt3b G A 9: 115,251,847 T574I probably benign Het
Thoc2 A G X: 41,879,891 I76T possibly damaging Het
Tpm3 C T 3: 90,087,717 T180M probably damaging Het
Uqcrfs1 C A 13: 30,540,925 V211F probably benign Het
Usp47 A G 7: 112,074,783 S418G probably benign Het
Usp5 T C 6: 124,829,353 T15A probably benign Het
Vps13c T C 9: 67,860,865 L122P probably damaging Het
Zfp677 A T 17: 21,397,668 E329V probably benign Het
Zfyve16 A T 13: 92,516,538 N846K possibly damaging Het
Zp1 G T 19: 10,918,777 P195T probably damaging Het
Other mutations in Sectm1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Sectm1b APN 11 121056249 missense probably damaging 1.00
IGL02071:Sectm1b APN 11 121055935 missense probably damaging 0.96
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 On2012-04-20