Incidental Mutation 'IGL02559:Tepsin'
ID298616
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tepsin
Ensembl Gene ENSMUSG00000025377
Gene NameTEPSIN, adaptor related protein complex 4 accessory protein
Synonyms2410002I01Rik, Enthd2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02559
Quality Score
Status
Chromosome11
Chromosomal Location120090531-120098731 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 120096905 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 62 (D62E)
Ref Sequence ENSEMBL: ENSMUSP00000101832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026442] [ENSMUST00000093901] [ENSMUST00000106223] [ENSMUST00000106225] [ENSMUST00000185558]
Predicted Effect probably benign
Transcript: ENSMUST00000026442
AA Change: D62E

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000026442
Gene: ENSMUSG00000025377
AA Change: D62E

DomainStartEndE-ValueType
Pfam:ENTH 20 116 8.8e-9 PFAM
low complexity region 131 143 N/A INTRINSIC
low complexity region 254 287 N/A INTRINSIC
low complexity region 336 347 N/A INTRINSIC
low complexity region 512 523 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093901
AA Change: D62E

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000091428
Gene: ENSMUSG00000025377
AA Change: D62E

DomainStartEndE-ValueType
Pfam:ENTH 20 135 2.5e-10 PFAM
low complexity region 137 149 N/A INTRINSIC
low complexity region 260 293 N/A INTRINSIC
low complexity region 342 353 N/A INTRINSIC
low complexity region 518 529 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106223
Predicted Effect probably benign
Transcript: ENSMUST00000106225
AA Change: D62E

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101832
Gene: ENSMUSG00000025377
AA Change: D62E

DomainStartEndE-ValueType
Pfam:ENTH 20 135 3.5e-11 PFAM
low complexity region 137 149 N/A INTRINSIC
low complexity region 192 225 N/A INTRINSIC
low complexity region 274 285 N/A INTRINSIC
low complexity region 450 461 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150094
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152152
Predicted Effect probably benign
Transcript: ENSMUST00000185558
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186913
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,687,070 Q1004* probably null Het
Bahcc1 A G 11: 120,285,172 D1914G probably damaging Het
Bcl11b A T 12: 107,915,394 probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Col24a1 A T 3: 145,314,173 I102F probably benign Het
Col7a1 C T 9: 108,973,216 R2063C unknown Het
Ddo T A 10: 40,647,521 L169Q probably damaging Het
Defb4 G T 8: 19,201,297 C60F probably damaging Het
Dock9 A T 14: 121,625,147 probably benign Het
Dysf A T 6: 84,067,446 probably benign Het
Fasn G A 11: 120,809,066 A2253V possibly damaging Het
Fbxw26 T C 9: 109,722,164 D355G probably benign Het
Gak C T 5: 108,584,232 E797K probably null Het
Gm10654 T C 8: 70,932,130 noncoding transcript Het
Gnas T C 2: 174,341,936 probably benign Het
Hdac3 A G 18: 37,954,891 F8S probably damaging Het
Hist1h2bj T A 13: 22,043,363 V45E possibly damaging Het
Hrh4 T C 18: 13,007,244 probably null Het
Klhl1 A G 14: 96,151,960 V586A possibly damaging Het
Lct T C 1: 128,294,266 N1512S probably damaging Het
Mmp28 G T 11: 83,447,740 N128K probably benign Het
Mndal T C 1: 173,872,920 T162A probably benign Het
Myh3 A G 11: 67,101,095 E1822G possibly damaging Het
Mylpf A G 7: 127,214,143 Y133C probably damaging Het
Nup210l G A 3: 90,159,953 A767T probably benign Het
Olfr1404 T C 1: 173,216,521 V290A probably damaging Het
Olfr221 A G 14: 52,036,007 Y35H probably damaging Het
Olfr666 T A 7: 104,892,954 R225W probably benign Het
Paics A G 5: 76,964,604 I312V possibly damaging Het
Pkdrej G T 15: 85,817,848 Q1296K probably benign Het
Ppil2 T C 16: 17,109,651 K26E possibly damaging Het
Rufy1 A G 11: 50,420,483 F170L probably damaging Het
Shcbp1 T A 8: 4,749,305 E93V probably damaging Het
Slamf1 T A 1: 171,767,258 I11K possibly damaging Het
Slc5a5 C T 8: 70,890,271 G215D probably damaging Het
Slco1a1 A T 6: 141,921,788 V473D probably benign Het
Slit1 A G 19: 41,721,085 V123A probably benign Het
Srgap2 A C 1: 131,524,936 probably null Het
Stk32c T C 7: 139,120,690 M208V probably benign Het
Syt15 T C 14: 34,221,803 V103A probably benign Het
Tacc2 T A 7: 130,759,267 L456Q probably damaging Het
Tanc1 A G 2: 59,724,654 probably benign Het
Thap3 T C 4: 151,983,687 D106G probably benign Het
Ttn T C 2: 76,786,217 D14818G probably damaging Het
Txndc2 T C 17: 65,639,590 N39S possibly damaging Het
Ubxn11 A G 4: 134,124,943 E200G probably damaging Het
Vmn2r11 T G 5: 109,052,180 Q469P probably damaging Het
Yipf2 T C 9: 21,592,186 T22A probably damaging Het
Other mutations in Tepsin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02124:Tepsin APN 11 120091721 missense probably benign
IGL02967:Tepsin APN 11 120094128 missense probably benign 0.00
IGL03352:Tepsin APN 11 120091877 missense probably benign 0.26
R0106:Tepsin UTSW 11 120091811 unclassified probably null
R0106:Tepsin UTSW 11 120091811 unclassified probably null
R0403:Tepsin UTSW 11 120093682 splice site probably benign
R0722:Tepsin UTSW 11 120095337 unclassified probably benign
R1853:Tepsin UTSW 11 120098636 missense probably damaging 1.00
R3699:Tepsin UTSW 11 120091753 missense possibly damaging 0.84
R3700:Tepsin UTSW 11 120091753 missense possibly damaging 0.84
R4871:Tepsin UTSW 11 120091525 missense possibly damaging 0.53
R6619:Tepsin UTSW 11 120095602 missense probably benign 0.40
R6851:Tepsin UTSW 11 120096961 missense probably damaging 1.00
R6970:Tepsin UTSW 11 120095364 missense probably damaging 0.99
R7185:Tepsin UTSW 11 120093817 missense probably damaging 1.00
R7296:Tepsin UTSW 11 120091708 missense possibly damaging 0.87
Posted On2015-04-16