Incidental Mutation 'IGL02735:Shisa5'
ID305599
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Shisa5
Ensembl Gene ENSMUSG00000025647
Gene Nameshisa family member 5
Synonyms2310008D10Rik, Scotin, 6430628I05Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02735
Quality Score
Status
Chromosome9
Chromosomal Location109038565-109057777 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 109056012 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Valine at position 118 (F118V)
Ref Sequence ENSEMBL: ENSMUSP00000107690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026737] [ENSMUST00000045011] [ENSMUST00000061973] [ENSMUST00000112053] [ENSMUST00000112059] [ENSMUST00000128062] [ENSMUST00000154184] [ENSMUST00000159614] [ENSMUST00000160217] [ENSMUST00000161521] [ENSMUST00000196954] [ENSMUST00000197099] [ENSMUST00000197483] [ENSMUST00000197689] [ENSMUST00000198281] [ENSMUST00000198295] [ENSMUST00000198376] [ENSMUST00000198708] [ENSMUST00000200515] [ENSMUST00000200629]
Predicted Effect probably benign
Transcript: ENSMUST00000026737
AA Change: F117V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000026737
Gene: ENSMUSG00000025647
AA Change: F117V

DomainStartEndE-ValueType
low complexity region 11 22 N/A INTRINSIC
Pfam:Shisa 24 211 1.3e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000045011
SMART Domains Protein: ENSMUSP00000044831
Gene: ENSMUSG00000025646

DomainStartEndE-ValueType
SCOP:d1eq1a_ 96 193 8e-3 SMART
low complexity region 326 338 N/A INTRINSIC
low complexity region 542 548 N/A INTRINSIC
low complexity region 555 566 N/A INTRINSIC
low complexity region 598 609 N/A INTRINSIC
low complexity region 761 779 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000061973
SMART Domains Protein: ENSMUSP00000050971
Gene: ENSMUSG00000049734

DomainStartEndE-ValueType
EXOIII 13 217 2.45e-13 SMART
low complexity region 248 283 N/A INTRINSIC
transmembrane domain 287 309 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112053
SMART Domains Protein: ENSMUSP00000107684
Gene: ENSMUSG00000049734

DomainStartEndE-ValueType
EXOIII 13 217 2.45e-13 SMART
low complexity region 248 283 N/A INTRINSIC
transmembrane domain 287 309 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112059
AA Change: F118V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107690
Gene: ENSMUSG00000025647
AA Change: F118V

DomainStartEndE-ValueType
low complexity region 11 22 N/A INTRINSIC
Pfam:Shisa 26 198 1.1e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128062
SMART Domains Protein: ENSMUSP00000118499
Gene: ENSMUSG00000025646

DomainStartEndE-ValueType
PDB:3MXJ|A 1 150 4e-97 PDB
SCOP:d1fxxa_ 12 146 7e-12 SMART
Blast:EXOIII 13 150 1e-85 BLAST
Predicted Effect unknown
Transcript: ENSMUST00000154184
AA Change: F14V
SMART Domains Protein: ENSMUSP00000128901
Gene: ENSMUSG00000025647
AA Change: F14V

DomainStartEndE-ValueType
Pfam:Shisa 1 108 1.6e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159614
SMART Domains Protein: ENSMUSP00000124854
Gene: ENSMUSG00000025646

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
low complexity region 54 60 N/A INTRINSIC
low complexity region 67 78 N/A INTRINSIC
low complexity region 110 121 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160217
SMART Domains Protein: ENSMUSP00000125264
Gene: ENSMUSG00000025646

DomainStartEndE-ValueType
SCOP:d1eq1a_ 96 193 3e-3 SMART
low complexity region 326 338 N/A INTRINSIC
low complexity region 533 550 N/A INTRINSIC
low complexity region 570 581 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160928
SMART Domains Protein: ENSMUSP00000123837
Gene: ENSMUSG00000025646

DomainStartEndE-ValueType
SCOP:d1eq1a_ 19 116 9e-3 SMART
low complexity region 249 261 N/A INTRINSIC
low complexity region 465 471 N/A INTRINSIC
low complexity region 478 489 N/A INTRINSIC
low complexity region 521 532 N/A INTRINSIC
low complexity region 684 702 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161163
Predicted Effect probably benign
Transcript: ENSMUST00000161521
SMART Domains Protein: ENSMUSP00000125615
Gene: ENSMUSG00000025646

DomainStartEndE-ValueType
coiled coil region 108 208 N/A INTRINSIC
low complexity region 326 338 N/A INTRINSIC
low complexity region 542 548 N/A INTRINSIC
low complexity region 555 566 N/A INTRINSIC
low complexity region 598 609 N/A INTRINSIC
low complexity region 734 752 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196954
AA Change: F15V

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000143599
Gene: ENSMUSG00000025647
AA Change: F15V

DomainStartEndE-ValueType
Pfam:Shisa 1 95 1.9e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197099
AA Change: F49V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143648
Gene: ENSMUSG00000025647
AA Change: F49V

DomainStartEndE-ValueType
Pfam:Shisa 1 129 9.9e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197194
Predicted Effect probably benign
Transcript: ENSMUST00000197483
AA Change: F15V

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000143613
Gene: ENSMUSG00000025647
AA Change: F15V

DomainStartEndE-ValueType
Pfam:Shisa 1 95 1.9e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000197689
AA Change: F15V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142874
Gene: ENSMUSG00000025647
AA Change: F15V

DomainStartEndE-ValueType
Pfam:Shisa 1 63 4.3e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198281
SMART Domains Protein: ENSMUSP00000143581
Gene: ENSMUSG00000025647

DomainStartEndE-ValueType
Pfam:Shisa 16 74 2.1e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000198295
AA Change: F15V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143721
Gene: ENSMUSG00000025647
AA Change: F15V

DomainStartEndE-ValueType
Pfam:Shisa 1 70 1.3e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000198376
AA Change: F15V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143374
Gene: ENSMUSG00000025647
AA Change: F15V

DomainStartEndE-ValueType
Pfam:Shisa 1 83 5e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198591
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198639
Predicted Effect probably benign
Transcript: ENSMUST00000198708
AA Change: F15V

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000142978
Gene: ENSMUSG00000025647
AA Change: F15V

DomainStartEndE-ValueType
Pfam:Shisa 1 109 7.8e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199288
Predicted Effect unknown
Transcript: ENSMUST00000199868
AA Change: F18V
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200366
Predicted Effect probably benign
Transcript: ENSMUST00000200515
AA Change: F53V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142835
Gene: ENSMUSG00000025647
AA Change: F53V

DomainStartEndE-ValueType
Pfam:Shisa 11 147 4.1e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000200629
AA Change: F15V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142404
Gene: ENSMUSG00000025647
AA Change: F15V

DomainStartEndE-ValueType
Pfam:Shisa 1 72 1.9e-23 PFAM
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 member of the shisa family. The encoded protein is localized to the endoplasmic reticulum, and together with p53 induces apoptosis in a caspase-dependent manner. Alternative splicing results in multiple transcript variants. Related pseudogenes of this gene are found on chromosome X. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and exhibit no apparent phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
Acss1 A T 2: 150,638,467 V228E probably damaging Het
Ampd1 T A 3: 103,085,377 M145K probably damaging Het
Ankhd1 G A 18: 36,648,546 S2217N probably benign Het
Asph T A 4: 9,598,759 D211V probably damaging Het
C87414 G A 5: 93,638,644 P89S possibly damaging Het
Cd55b A T 1: 130,388,676 W379R probably damaging Het
Derl3 A G 10: 75,895,116 T201A probably damaging Het
Efcab6 A G 15: 83,899,697 L1008P probably damaging Het
Eif4g3 A G 4: 138,126,211 I363V probably benign Het
Heatr5a A G 12: 51,915,021 F1058L probably damaging Het
Hmcn1 A T 1: 150,646,832 M3439K probably benign Het
Ift140 C A 17: 25,034,035 probably benign Het
Itgad A G 7: 128,193,716 Y832C probably damaging Het
Itgb2 T A 10: 77,549,999 D265E possibly damaging Het
Kif19a A T 11: 114,785,567 E449V probably damaging Het
Krt40 T C 11: 99,538,635 E291G probably damaging Het
Lama2 T C 10: 27,104,128 N1897S probably damaging Het
Lepr A G 4: 101,782,638 Y767C probably damaging Het
Lrrtm4 A G 6: 80,809,050 H546R probably benign Het
March6 A G 15: 31,486,120 S362P probably benign Het
Med12l A G 3: 59,093,646 Y734C probably damaging Het
Mrps18a C T 17: 46,122,799 R74C probably damaging Het
Mvk A G 5: 114,450,819 E174G probably benign Het
Naip2 A G 13: 100,160,214 S1105P probably damaging Het
Nrxn3 A G 12: 89,254,854 M468V probably benign Het
Obscn T C 11: 59,093,349 E1760G probably damaging Het
Pcsk5 C A 19: 17,675,468 G285W probably damaging Het
Pgpep1l A G 7: 68,236,973 I196T probably benign Het
Phf14 T C 6: 11,987,612 M630T probably benign Het
Plod2 T C 9: 92,595,389 probably benign Het
Poldip2 G A 11: 78,512,336 A9T probably benign Het
Pou2f1 A G 1: 165,875,827 S718P probably damaging Het
Ptpre A T 7: 135,667,567 Y246F probably damaging Het
Pudp T C 18: 50,568,332 H110R probably benign Het
Scaf4 C T 16: 90,245,515 G646E unknown Het
Sec16a T A 2: 26,428,137 probably benign Het
Serpina5 A G 12: 104,103,857 T338A probably benign Het
Slc6a21 G A 7: 45,286,637 probably benign Het
Sprtn T A 8: 124,903,387 V473E probably benign Het
Styxl1 A G 5: 135,759,142 I165T probably damaging Het
Tal2 T A 4: 53,785,906 I29N probably damaging Het
Tas2r134 T C 2: 51,627,827 I106T probably damaging Het
Tmem259 G A 10: 79,979,139 T217I probably damaging Het
Trpc6 T C 9: 8,655,338 I723T probably damaging Het
Vmn1r211 A T 13: 22,852,248 V83D probably damaging Het
Vmn2r103 G T 17: 19,812,248 M761I probably benign Het
Ybey A T 10: 76,468,326 I14N probably damaging Het
Other mutations in Shisa5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02989:Shisa5 APN 9 109055994 missense probably damaging 1.00
IGL03169:Shisa5 APN 9 109056492 missense probably damaging 1.00
R1809:Shisa5 UTSW 9 109040930 missense probably damaging 0.99
R1813:Shisa5 UTSW 9 109056040 missense probably damaging 0.99
R1896:Shisa5 UTSW 9 109056040 missense probably damaging 0.99
R2516:Shisa5 UTSW 9 109056507 critical splice donor site probably null
R4706:Shisa5 UTSW 9 109056060 missense probably null 0.99
R5800:Shisa5 UTSW 9 109056094 critical splice donor site probably null
R5935:Shisa5 UTSW 9 109056683 missense possibly damaging 0.68
R7299:Shisa5 UTSW 9 109054884 intron probably benign
R7301:Shisa5 UTSW 9 109054884 intron probably benign
Posted On2015-04-16