Incidental Mutation 'IGL01151:Thumpd1'
ID51679
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Thumpd1
Ensembl Gene ENSMUSG00000030942
Gene NameTHUMP domain containing 1
Synonyms6330575P11Rik
Accession Numbers

Genbank: NM_145585; MGI: 2444479

Is this an essential gene? Probably non essential (E-score: 0.168) question?
Stock #IGL01151
Quality Score
Status
Chromosome7
Chromosomal Location119715093-119720798 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 119718195 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 161 (R161Q)
Ref Sequence ENSEMBL: ENSMUSP00000033236 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033236] [ENSMUST00000047045]
Predicted Effect probably damaging
Transcript: ENSMUST00000033236
AA Change: R161Q

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000033236
Gene: ENSMUSG00000030942
AA Change: R161Q

DomainStartEndE-ValueType
THUMP 161 254 4.5e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000047045
SMART Domains Protein: ENSMUSP00000045160
Gene: ENSMUSG00000047026

DomainStartEndE-ValueType
Pfam:AMP-binding 64 478 5.8e-83 PFAM
Pfam:AMP-binding_C 486 566 1.4e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208774
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209175
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,405,399 Q5452R probably benign Het
Ankrd42 A G 7: 92,605,200 probably benign Het
Camk2g T C 14: 20,765,959 D157G probably damaging Het
Cd55b A T 1: 130,422,906 V18E possibly damaging Het
Ep300 T A 15: 81,623,472 probably benign Het
Fbxw26 A G 9: 109,721,780 V393A possibly damaging Het
Fkbp4 T C 6: 128,435,791 T59A probably benign Het
Gbp5 T C 3: 142,500,594 L13P probably damaging Het
Gpr161 G T 1: 165,321,509 L482F probably damaging Het
Il6st T A 13: 112,493,651 S344T probably benign Het
Itpr3 T G 17: 27,091,529 F429V probably damaging Het
Kbtbd11 G T 8: 15,029,176 D592Y probably damaging Het
Magi3 C A 3: 104,051,374 G465V probably damaging Het
Naip6 T A 13: 100,299,093 Y974F probably benign Het
Nek1 A G 8: 61,020,077 Y169C probably damaging Het
Nos1ap A T 1: 170,589,276 I30N probably damaging Het
Obox5 T C 7: 15,758,591 I157T possibly damaging Het
Olfr1130 A T 2: 87,607,979 D197V probably damaging Het
Pcdhb10 T A 18: 37,412,195 I108N probably damaging Het
Pgf A G 12: 85,171,736 L80P probably damaging Het
Rpgrip1l A G 8: 91,275,149 L459P probably damaging Het
Slc9a1 A T 4: 133,411,989 I173F probably damaging Het
Taf15 T C 11: 83,487,371 S146P possibly damaging Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Tjp2 A G 19: 24,138,810 I5T possibly damaging Het
Umod A G 7: 119,477,219 V108A possibly damaging Het
Usp38 A T 8: 81,013,840 S199R probably damaging Het
Vmn2r73 T A 7: 85,857,878 Y742F probably damaging Het
Other mutations in Thumpd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Thumpd1 APN 7 119717009 missense possibly damaging 0.95
IGL01327:Thumpd1 APN 7 119720702 missense probably benign 0.12
IGL02140:Thumpd1 APN 7 119717009 missense possibly damaging 0.95
IGL02945:Thumpd1 APN 7 119716747 missense possibly damaging 0.48
F6893:Thumpd1 UTSW 7 119720576 nonsense probably null
R4153:Thumpd1 UTSW 7 119720593 missense probably damaging 1.00
R4934:Thumpd1 UTSW 7 119716779 missense probably benign 0.00
R5475:Thumpd1 UTSW 7 119720720 missense probably benign
R5631:Thumpd1 UTSW 7 119720602 missense probably damaging 1.00
R6123:Thumpd1 UTSW 7 119717009 missense probably damaging 1.00
R6292:Thumpd1 UTSW 7 119720674 missense probably benign 0.38
R6351:Thumpd1 UTSW 7 119720605 missense possibly damaging 0.94
R7565:Thumpd1 UTSW 7 119716862 nonsense probably null
R8139:Thumpd1 UTSW 7 119720585 missense possibly damaging 0.82
Posted On2013-06-21