Incidental Mutation 'IGL02409:Thumpd2'
ID292219
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Thumpd2
Ensembl Gene ENSMUSG00000024246
Gene NameTHUMP domain containing 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #IGL02409
Quality Score
Status
Chromosome17
Chromosomal Location81026327-81065085 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 81032688 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 377 (F377L)
Ref Sequence ENSEMBL: ENSMUSP00000025093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025093]
Predicted Effect probably damaging
Transcript: ENSMUST00000025093
AA Change: F377L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025093
Gene: ENSMUSG00000024246
AA Change: F377L

DomainStartEndE-ValueType
THUMP 175 266 4.08e-2 SMART
Pfam:UPF0020 272 425 3e-27 PFAM
Pfam:CMAS 284 429 3e-7 PFAM
Pfam:Ubie_methyltran 285 417 3e-10 PFAM
Pfam:MTS 289 417 2.1e-7 PFAM
Pfam:Methyltransf_31 296 441 7.8e-14 PFAM
Pfam:Methyltransf_11 303 406 1.9e-10 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp4 T A 18: 15,399,725 M104L probably benign Het
Cdkn1a T C 17: 29,098,454 V16A probably benign Het
Celsr2 C A 3: 108,413,955 V514F probably damaging Het
Cmya5 T C 13: 93,090,198 N2794S probably damaging Het
Dnmt1 T C 9: 20,926,497 T281A probably benign Het
Dock2 A T 11: 34,501,204 N840K probably benign Het
Dscam T C 16: 96,819,888 N540S possibly damaging Het
Elavl1 A T 8: 4,289,838 I248N possibly damaging Het
Fam120a A G 13: 48,967,359 V157A probably benign Het
Fcrls G A 3: 87,252,723 P408L probably benign Het
Gpr1 T A 1: 63,183,716 N120I probably damaging Het
Grin2b T A 6: 136,043,908 M132L possibly damaging Het
Herc2 T A 7: 56,220,469 probably null Het
Lrp1b T G 2: 41,445,196 K778T possibly damaging Het
Mapk10 T A 5: 102,928,230 E389D possibly damaging Het
Ms4a7 G T 19: 11,324,443 Y62* probably null Het
Muc5b A G 7: 141,861,338 T2674A possibly damaging Het
Nbeal1 T C 1: 60,329,335 L2613P probably benign Het
Ncapg2 A T 12: 116,420,717 Y266F probably damaging Het
Olfr1215 C T 2: 89,001,910 C126Y possibly damaging Het
Olfr127 T C 17: 37,903,788 Y81H probably damaging Het
Olfr342 T A 2: 36,528,153 V247E probably damaging Het
Olfr512 A G 7: 108,714,159 I269V probably benign Het
Pkd1 T A 17: 24,573,623 I1428N probably benign Het
Ppil4 T C 10: 7,798,564 probably benign Het
Rev3l T C 10: 39,821,148 V547A possibly damaging Het
Rgsl1 T C 1: 153,826,243 K155R possibly damaging Het
Skap2 T C 6: 51,907,958 D234G possibly damaging Het
Sult2a4 C T 7: 13,984,919 W133* probably null Het
Tbc1d2b C T 9: 90,222,352 S579N probably benign Het
Tdrkh T A 3: 94,430,612 probably benign Het
Tmem132d T C 5: 127,784,888 D723G probably damaging Het
Tnfrsf23 A T 7: 143,668,571 L168Q probably damaging Het
Ttn T C 2: 76,954,630 T818A unknown Het
Uox A T 3: 146,624,626 D130V probably benign Het
Vmn2r45 T C 7: 8,485,728 Y101C probably benign Het
Wdr1 C T 5: 38,531,110 D161N probably benign Het
Other mutations in Thumpd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01750:Thumpd2 APN 17 81054386 missense probably benign 0.00
IGL02546:Thumpd2 APN 17 81054455 missense probably benign 0.16
IGL03357:Thumpd2 APN 17 81044090 splice site probably benign
R1295:Thumpd2 UTSW 17 81055888 missense probably damaging 1.00
R2030:Thumpd2 UTSW 17 81064958 missense probably damaging 1.00
R2898:Thumpd2 UTSW 17 81044128 nonsense probably null
R4805:Thumpd2 UTSW 17 81026701 missense probably damaging 0.98
R4861:Thumpd2 UTSW 17 81026801 missense probably benign 0.03
R4861:Thumpd2 UTSW 17 81026801 missense probably benign 0.03
R5328:Thumpd2 UTSW 17 81044162 missense possibly damaging 0.64
R5359:Thumpd2 UTSW 17 81026777 missense probably benign 0.16
R6207:Thumpd2 UTSW 17 81055837 missense probably damaging 1.00
R6218:Thumpd2 UTSW 17 81052913 missense probably damaging 1.00
R6484:Thumpd2 UTSW 17 81054188 missense probably benign 0.01
R6853:Thumpd2 UTSW 17 81065030 missense possibly damaging 0.75
R6855:Thumpd2 UTSW 17 81044170 missense probably damaging 1.00
R6917:Thumpd2 UTSW 17 81044114 missense probably benign 0.00
R7018:Thumpd2 UTSW 17 81055897 nonsense probably null
Posted On2015-04-16