Incidental Mutation 'IGL01525:Thumpd3'
ID 89548
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Thumpd3
Ensembl Gene ENSMUSG00000030264
Gene Name THUMP domain containing 3
Synonyms Gtrosa26as
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.375) question?
Stock # IGL01525
Quality Score
Status
Chromosome 6
Chromosomal Location 113023292-113045239 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113024597 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 64 (S64P)
Ref Sequence ENSEMBL: ENSMUSP00000144805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032398] [ENSMUST00000138278] [ENSMUST00000155378] [ENSMUST00000204866]
AlphaFold P97770
Predicted Effect possibly damaging
Transcript: ENSMUST00000032398
AA Change: S64P

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000032398
Gene: ENSMUSG00000030264
AA Change: S64P

DomainStartEndE-ValueType
low complexity region 142 151 N/A INTRINSIC
low complexity region 163 176 N/A INTRINSIC
THUMP 190 287 4.75e-12 SMART
Pfam:UPF0020 294 480 1.2e-57 PFAM
Pfam:Methyltransf_26 322 449 6.7e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137396
Predicted Effect possibly damaging
Transcript: ENSMUST00000138278
AA Change: S64P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145054
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152795
Predicted Effect probably damaging
Transcript: ENSMUST00000155378
AA Change: S64P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120509
Gene: ENSMUSG00000030264
AA Change: S64P

DomainStartEndE-ValueType
low complexity region 142 151 N/A INTRINSIC
low complexity region 163 176 N/A INTRINSIC
Blast:THUMP 190 222 2e-13 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000204866
AA Change: S64P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205187
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 A G 15: 74,458,684 (GRCm39) E322G probably damaging Het
Aldh8a1 A T 10: 21,267,472 (GRCm39) I286F probably damaging Het
Arnt2 T A 7: 83,924,616 (GRCm39) T404S possibly damaging Het
Asb1 A G 1: 91,479,846 (GRCm39) T190A probably damaging Het
Atp8b1 G A 18: 64,672,323 (GRCm39) R1014* probably null Het
Dgcr8 T C 16: 18,101,808 (GRCm39) D158G probably damaging Het
Dock5 A G 14: 68,043,169 (GRCm39) probably benign Het
Fras1 C T 5: 96,887,195 (GRCm39) T2659I probably damaging Het
Galt A G 4: 41,756,068 (GRCm39) T45A probably benign Het
Gtpbp3 A G 8: 71,943,078 (GRCm39) D164G probably damaging Het
Ift70b A T 2: 75,767,226 (GRCm39) M509K probably damaging Het
Kmt2c T A 5: 25,534,439 (GRCm39) probably benign Het
Lrrc59 A T 11: 94,525,522 (GRCm39) Q106L probably damaging Het
Mgat4c A G 10: 102,214,057 (GRCm39) I13M probably damaging Het
Muc19 T A 15: 91,770,877 (GRCm39) noncoding transcript Het
Myo5b C T 18: 74,873,620 (GRCm39) A1508V probably damaging Het
Or2o1 A G 11: 49,051,501 (GRCm39) Y220C probably damaging Het
Or52ad1 T A 7: 102,995,386 (GRCm39) I250F probably benign Het
Or5d39 T C 2: 87,980,221 (GRCm39) I47M probably benign Het
Plxna2 A G 1: 194,394,619 (GRCm39) E500G probably benign Het
Psme4 T A 11: 30,759,936 (GRCm39) probably benign Het
S100a8 A T 3: 90,576,876 (GRCm39) S10C probably damaging Het
Sdk1 T C 5: 141,985,675 (GRCm39) V769A probably damaging Het
Sorbs1 G T 19: 40,338,422 (GRCm39) T326K probably damaging Het
Spata31d1b T C 13: 59,860,280 (GRCm39) I51T probably benign Het
Ticrr T C 7: 79,332,197 (GRCm39) L843P probably damaging Het
Ttn A T 2: 76,641,108 (GRCm39) I13587N probably damaging Het
Txndc2 A G 17: 65,945,908 (GRCm39) S90P possibly damaging Het
Other mutations in Thumpd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00579:Thumpd3 APN 6 113,024,622 (GRCm39) missense possibly damaging 0.94
IGL01113:Thumpd3 APN 6 113,037,021 (GRCm39) missense probably benign 0.36
IGL01560:Thumpd3 APN 6 113,040,120 (GRCm39) missense possibly damaging 0.88
IGL01734:Thumpd3 APN 6 113,043,806 (GRCm39) missense probably damaging 1.00
IGL01814:Thumpd3 APN 6 113,040,112 (GRCm39) missense possibly damaging 0.64
IGL01901:Thumpd3 APN 6 113,036,932 (GRCm39) missense probably benign 0.09
IGL01977:Thumpd3 APN 6 113,036,927 (GRCm39) missense possibly damaging 0.96
IGL02697:Thumpd3 APN 6 113,044,256 (GRCm39) missense probably benign 0.03
IGL02805:Thumpd3 APN 6 113,043,758 (GRCm39) missense probably damaging 1.00
PIT4431001:Thumpd3 UTSW 6 113,036,939 (GRCm39) missense probably benign 0.01
R0139:Thumpd3 UTSW 6 113,044,762 (GRCm39) missense probably benign 0.00
R0386:Thumpd3 UTSW 6 113,042,621 (GRCm39) critical splice donor site probably null
R1975:Thumpd3 UTSW 6 113,032,838 (GRCm39) missense possibly damaging 0.92
R2125:Thumpd3 UTSW 6 113,043,749 (GRCm39) missense probably benign 0.02
R3709:Thumpd3 UTSW 6 113,032,652 (GRCm39) missense possibly damaging 0.65
R5439:Thumpd3 UTSW 6 113,043,825 (GRCm39) splice site silent
R6074:Thumpd3 UTSW 6 113,036,971 (GRCm39) missense possibly damaging 0.70
R6406:Thumpd3 UTSW 6 113,032,924 (GRCm39) missense probably damaging 0.98
R7411:Thumpd3 UTSW 6 113,033,072 (GRCm39) missense possibly damaging 0.92
R7464:Thumpd3 UTSW 6 113,032,730 (GRCm39) missense probably benign 0.00
R7465:Thumpd3 UTSW 6 113,024,592 (GRCm39) missense probably damaging 1.00
R7779:Thumpd3 UTSW 6 113,036,950 (GRCm39) missense probably damaging 0.98
R8319:Thumpd3 UTSW 6 113,040,107 (GRCm39) nonsense probably null
R9268:Thumpd3 UTSW 6 113,043,819 (GRCm39) missense probably damaging 1.00
R9695:Thumpd3 UTSW 6 113,024,622 (GRCm39) missense possibly damaging 0.93
RF010:Thumpd3 UTSW 6 113,033,006 (GRCm39) missense probably damaging 1.00
Z1088:Thumpd3 UTSW 6 113,032,991 (GRCm39) missense probably benign 0.03
Posted On 2013-12-03