Incidental Mutation 'IGL02215:Tesc'
ID284816
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tesc
Ensembl Gene ENSMUSG00000029359
Gene Nametescalcin
Synonyms1010001A17Rik, 2410011K10Rik, TE-1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.489) question?
Stock #IGL02215
Quality Score
Status
Chromosome5
Chromosomal Location118027743-118061878 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 118061618 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 195 (D195G)
Ref Sequence ENSEMBL: ENSMUSP00000031304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031304] [ENSMUST00000049474] [ENSMUST00000124648]
Predicted Effect probably damaging
Transcript: ENSMUST00000031304
AA Change: D195G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031304
Gene: ENSMUSG00000029359
AA Change: D195G

DomainStartEndE-ValueType
PDB:2CT9|B 1 212 2e-29 PDB
SCOP:d1auib_ 13 203 2e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000031305
Predicted Effect probably benign
Transcript: ENSMUST00000049474
SMART Domains Protein: ENSMUSP00000047012
Gene: ENSMUSG00000032867

DomainStartEndE-ValueType
low complexity region 16 39 N/A INTRINSIC
low complexity region 51 75 N/A INTRINSIC
low complexity region 76 91 N/A INTRINSIC
FBOX 119 159 5e-5 SMART
WD40 198 236 6.16e0 SMART
WD40 248 285 7.1e1 SMART
WD40 289 327 7.36e1 SMART
Blast:WD40 373 418 2e-8 BLAST
WD40 421 461 1.6e0 SMART
WD40 464 501 2.15e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124648
SMART Domains Protein: ENSMUSP00000138436
Gene: ENSMUSG00000029359

DomainStartEndE-ValueType
PDB:2CT9|B 9 138 3e-19 PDB
SCOP:d1dgua_ 9 138 1e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151792
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for deletions in this gene display normal morphology and numbers of megakaryocytes. Platelet numbers are also normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik T A X: 127,395,573 S378R probably benign Het
Abca14 T A 7: 120,253,389 M859K probably benign Het
Adamts13 C T 2: 26,985,483 P462S probably damaging Het
Apol7a G T 15: 77,393,490 D19E possibly damaging Het
Armc8 T C 9: 99,483,978 N628D possibly damaging Het
Astn2 T A 4: 66,266,234 I209F unknown Het
Atp10b T C 11: 43,194,665 probably null Het
C4b C T 17: 34,734,491 C1006Y probably damaging Het
Capn13 A G 17: 73,330,998 L470P probably damaging Het
Col4a4 T C 1: 82,453,809 R1585G unknown Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Csmd3 C T 15: 47,585,688 V3637M probably damaging Het
Dgki C T 6: 37,016,675 D584N probably damaging Het
Dmrt2 T C 19: 25,678,134 S366P probably damaging Het
Dmtf1 A C 5: 9,136,070 L172R probably damaging Het
Efhc2 A G X: 17,230,578 F177L probably damaging Het
Enpep T A 3: 129,270,277 probably benign Het
Enpp6 A T 8: 47,065,932 D245V probably damaging Het
Fam199x T A X: 137,062,650 probably benign Het
Fkbp4 A T 6: 128,434,470 probably benign Het
Gas7 A G 11: 67,643,332 H86R probably benign Het
Gcc2 A G 10: 58,271,636 N862S probably benign Het
Gstm7 T C 3: 107,930,278 D115G possibly damaging Het
Gtse1 C A 15: 85,862,598 P205Q possibly damaging Het
Herc4 G A 10: 63,273,566 M193I probably benign Het
Hist1h2ba A T 13: 23,934,110 F16Y probably benign Het
Igfl3 T A 7: 18,179,838 C38S possibly damaging Het
Il18rap G A 1: 40,547,922 D455N probably damaging Het
Ints8 A G 4: 11,209,244 I932T probably damaging Het
Itgbl1 A C 14: 123,972,141 I311L probably benign Het
Jmjd1c A T 10: 67,220,322 H794L probably damaging Het
Kif1a A G 1: 93,020,549 S1542P probably benign Het
Klc3 T A 7: 19,395,825 N373I probably damaging Het
Lcn2 T C 2: 32,384,865 *201W probably null Het
Ldhb A T 6: 142,495,566 probably null Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Npat T A 9: 53,559,117 S348T probably benign Het
Pclo A T 5: 14,856,985 D5001V unknown Het
Peg3 C A 7: 6,709,011 A1071S probably benign Het
Piwil2 A T 14: 70,391,373 D731E possibly damaging Het
Prss41 T A 17: 23,843,856 D35V probably benign Het
Ptprz1 T A 6: 22,965,182 D159E possibly damaging Het
Rabep1 C T 11: 70,923,197 Q571* probably null Het
Scn8a A G 15: 101,029,572 probably null Het
Sipa1l2 G A 8: 125,447,837 T1234I possibly damaging Het
Slc5a10 T A 11: 61,673,912 M414L probably benign Het
Smg5 T C 3: 88,352,998 S632P possibly damaging Het
Smim15 A G 13: 108,047,514 D18G probably benign Het
Sorl1 T A 9: 42,018,182 I1132F probably damaging Het
Spatc1 T C 15: 76,283,539 probably benign Het
Sytl2 A T 7: 90,381,214 probably benign Het
Tmem39b T A 4: 129,692,518 probably null Het
Vmn2r52 A G 7: 10,171,102 V270A probably damaging Het
Wdr3 C A 3: 100,146,700 probably null Het
Other mutations in Tesc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Tesc APN 5 118056439 critical splice donor site probably null
R0142:Tesc UTSW 5 118056570 missense possibly damaging 0.55
R0395:Tesc UTSW 5 118053582 critical splice acceptor site probably null
R1640:Tesc UTSW 5 118054849 missense probably benign 0.00
R1809:Tesc UTSW 5 118061602 missense probably benign 0.01
R1830:Tesc UTSW 5 118046329 missense probably damaging 1.00
R2051:Tesc UTSW 5 118046329 missense probably damaging 1.00
R4910:Tesc UTSW 5 118056466 intron probably benign
R5338:Tesc UTSW 5 118059458 missense probably damaging 1.00
R6826:Tesc UTSW 5 118056418 missense probably damaging 0.97
R7057:Tesc UTSW 5 118054960 missense probably damaging 1.00
R7486:Tesc UTSW 5 118046317 missense probably benign 0.34
R7531:Tesc UTSW 5 118059458 missense probably damaging 1.00
R7651:Tesc UTSW 5 118056601 missense possibly damaging 0.91
Posted On2015-04-16