Incidental Mutation 'IGL02302:S100pbp'
ID287394
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol S100pbp
Ensembl Gene ENSMUSG00000040928
Gene NameS100P binding protein
Synonyms4930429A08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.140) question?
Stock #IGL02302
Quality Score
Status
Chromosome4
Chromosomal Location129148005-129189727 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 129182441 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 30 (D30E)
Ref Sequence ENSEMBL: ENSMUSP00000113920 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049081] [ENSMUST00000072431] [ENSMUST00000106059] [ENSMUST00000106061] [ENSMUST00000117350] [ENSMUST00000117497] [ENSMUST00000117965]
Predicted Effect probably damaging
Transcript: ENSMUST00000049081
AA Change: D30E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039820
Gene: ENSMUSG00000040928
AA Change: D30E

DomainStartEndE-ValueType
Pfam:S100PBPR 21 382 4.4e-194 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000072431
AA Change: D30E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072258
Gene: ENSMUSG00000040928
AA Change: D30E

DomainStartEndE-ValueType
Pfam:S100PBPR 21 108 1.6e-36 PFAM
Pfam:S100PBPR 107 162 2.1e-17 PFAM
Pfam:S100PBPR 153 304 6.6e-87 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106059
AA Change: D30E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101674
Gene: ENSMUSG00000040928
AA Change: D30E

DomainStartEndE-ValueType
Pfam:S100PBPR 21 67 1.2e-23 PFAM
Pfam:S100PBPR 66 121 1.1e-17 PFAM
Pfam:S100PBPR 112 263 4.9e-87 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106061
AA Change: D30E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101676
Gene: ENSMUSG00000040928
AA Change: D30E

DomainStartEndE-ValueType
Pfam:S100PBPR 21 382 8.5e-193 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117350
AA Change: D30E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113214
Gene: ENSMUSG00000040928
AA Change: D30E

DomainStartEndE-ValueType
Pfam:S100PBPR 21 337 1.4e-147 PFAM
low complexity region 353 366 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117497
AA Change: D30E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113084
Gene: ENSMUSG00000040928
AA Change: D30E

DomainStartEndE-ValueType
Pfam:S100PBPR 21 198 2.4e-83 PFAM
Pfam:S100PBPR 189 327 1.1e-77 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117965
AA Change: D30E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113920
Gene: ENSMUSG00000040928
AA Change: D30E

DomainStartEndE-ValueType
Pfam:S100PBPR 21 198 2.4e-83 PFAM
Pfam:S100PBPR 189 327 1.1e-77 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122942
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126748
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137992
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142490
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148112
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148920
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151971
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 protein that was originally identified by its interaction with S100 calcium-binding protein P. Expression of this protein has been reported to be associated with pancreatic ductal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik A T 1: 57,383,098 Q211L possibly damaging Het
2210016F16Rik G A 13: 58,381,935 R288W probably damaging Het
Abca14 T A 7: 120,318,745 probably benign Het
Abcb10 A T 8: 123,958,672 V543D possibly damaging Het
Ankrd17 G A 5: 90,283,198 T909I probably benign Het
Arhgef3 A G 14: 27,362,842 N76S probably benign Het
Bbx A T 16: 50,224,915 C320S probably damaging Het
Cdh23 C A 10: 60,323,523 V2159F possibly damaging Het
Cmtr2 G A 8: 110,221,504 A149T probably damaging Het
Cntnap4 A G 8: 112,785,903 probably benign Het
Col6a3 A T 1: 90,781,760 F1905I unknown Het
Ddx60 A G 8: 61,975,832 Y792C possibly damaging Het
Dock4 T C 12: 40,725,777 L573P probably damaging Het
Dopey2 A G 16: 93,810,117 I2103V probably benign Het
Ear1 T G 14: 43,819,047 Q121H probably benign Het
Eprs T A 1: 185,387,124 probably benign Het
Ero1l T C 14: 45,293,162 K271R probably benign Het
Esyt1 A G 10: 128,512,367 L884P probably damaging Het
F2r T C 13: 95,604,652 N125S probably damaging Het
Fam129b A G 2: 32,921,123 I382V probably benign Het
Fam217a T C 13: 34,911,161 E357G probably damaging Het
Gabbr1 C T 17: 37,054,797 R123W probably damaging Het
Gatsl2 G A 5: 134,135,643 V148I possibly damaging Het
Gimap4 T G 6: 48,690,413 V34G probably damaging Het
Gm3248 A T 14: 5,943,011 V180E probably benign Het
Hecw2 A T 1: 53,933,248 N204K probably damaging Het
Ighv1-84 T A 12: 115,980,929 K42* probably null Het
Kcnh7 T A 2: 62,706,058 Q1060L probably damaging Het
Kif3b T A 2: 153,316,948 I223N probably damaging Het
Lama2 G A 10: 27,212,043 P913S probably benign Het
Lgr4 A G 2: 110,002,496 I334M probably damaging Het
Lrrc45 G T 11: 120,718,525 E403D possibly damaging Het
Mccc2 A G 13: 99,954,239 L462P probably damaging Het
Mfsd13b T C 7: 120,998,909 V346A probably damaging Het
Muc6 T C 7: 141,641,496 T1342A possibly damaging Het
Mxd3 T C 13: 55,329,278 N56S probably benign Het
Ntn5 G T 7: 45,694,248 R337L probably damaging Het
Nynrin A G 14: 55,868,505 K894E probably benign Het
Olfr1305 A C 2: 111,873,542 S104R possibly damaging Het
Olfr350 G T 2: 36,850,703 G219V probably benign Het
Olfr447 T A 6: 42,912,338 Y272N probably damaging Het
Olfr859 A T 9: 19,808,685 R122S probably damaging Het
Pappa2 T C 1: 158,715,001 D1772G probably benign Het
Pcdh18 G T 3: 49,755,938 F309L probably benign Het
Pcdhac2 G T 18: 37,145,953 R662L probably damaging Het
Ppp5c G A 7: 17,008,630 S261L possibly damaging Het
Rc3h1 T C 1: 160,938,105 probably benign Het
Rfx8 A C 1: 39,665,522 S578A possibly damaging Het
Rhbdl3 T G 11: 80,353,681 *405E probably null Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Rnf139 G T 15: 58,898,757 L210F probably damaging Het
Rragc A G 4: 123,921,086 R192G possibly damaging Het
Ryr3 A T 2: 112,964,356 V137E probably damaging Het
Smchd1 A T 17: 71,358,133 probably benign Het
Sppl3 T A 5: 115,082,331 C101S probably benign Het
St5 A G 7: 109,525,331 V1101A probably damaging Het
St8sia6 T C 2: 13,723,513 T74A probably benign Het
Sult3a1 A G 10: 33,866,575 N66S possibly damaging Het
Sv2b T A 7: 75,124,199 K508M probably damaging Het
Terf1 T C 1: 15,833,402 S275P probably damaging Het
Tmed8 G T 12: 87,174,216 H199N probably damaging Het
Tubg2 A T 11: 101,156,145 Q9L probably damaging Het
Ubxn4 C T 1: 128,256,111 probably benign Het
Usp34 C T 11: 23,467,243 T2964I possibly damaging Het
Zfp213 A G 17: 23,557,971 S366P possibly damaging Het
Other mutations in S100pbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00836:S100pbp APN 4 129182108 missense possibly damaging 0.94
IGL02554:S100pbp APN 4 129181851 splice site probably null
R0068:S100pbp UTSW 4 129144456 unclassified probably benign
R1720:S100pbp UTSW 4 129182093 missense probably damaging 1.00
R2058:S100pbp UTSW 4 129182100 missense probably benign 0.02
R2415:S100pbp UTSW 4 129181821 missense possibly damaging 0.67
R2762:S100pbp UTSW 4 129155426 nonsense probably null
R4815:S100pbp UTSW 4 129150933 unclassified probably benign
R5537:S100pbp UTSW 4 129182188 missense probably benign 0.39
R7113:S100pbp UTSW 4 129182103 missense probably damaging 0.96
R7384:S100pbp UTSW 4 129181909 missense probably benign 0.02
R7453:S100pbp UTSW 4 129182085 missense probably damaging 1.00
Posted On2015-04-16