Incidental Mutation 'IGL01560:Thumpd3'
ID90818
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Thumpd3
Ensembl Gene ENSMUSG00000030264
Gene NameTHUMP domain containing 3
SynonymsGtrosa26as
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.163) question?
Stock #IGL01560
Quality Score
Status
Chromosome6
Chromosomal Location113046225-113068273 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 113063159 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 335 (I335V)
Ref Sequence ENSEMBL: ENSMUSP00000032398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032398]
Predicted Effect possibly damaging
Transcript: ENSMUST00000032398
AA Change: I335V

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032398
Gene: ENSMUSG00000030264
AA Change: I335V

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: ENSMUST00000104243
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133467
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137396
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153310
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167415
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204786
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931440F15Rik A T 11: 29,824,643 Y271* probably null Het
Arhgap28 A T 17: 67,896,071 I129N probably damaging Het
Arsb A G 13: 93,807,598 I266V probably benign Het
Atp6v1b1 A G 6: 83,749,915 probably benign Het
Cacna1d C T 14: 30,099,206 V1118I probably benign Het
Cadps A T 14: 12,491,792 V791D probably damaging Het
Cdh2 T C 18: 16,650,438 D78G probably benign Het
Flnb T G 14: 7,893,829 I714S probably benign Het
Fzd1 A G 5: 4,756,037 M515T probably benign Het
Lrpprc A T 17: 84,708,119 F1288Y probably benign Het
Lrrk2 A G 15: 91,774,988 I1868V probably benign Het
Mmel1 A G 4: 154,892,510 D561G probably null Het
Mypn A T 10: 63,134,964 V887E probably benign Het
Olfr1223 C T 2: 89,144,603 C140Y probably damaging Het
Olfr414 A T 1: 174,430,901 M158L probably benign Het
Olfr846 T C 9: 19,360,546 T270A probably benign Het
Osbpl5 C A 7: 143,715,693 E49* probably null Het
Prpf8 A G 11: 75,490,406 Q189R possibly damaging Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Six6 T A 12: 72,940,057 M1K probably null Het
Slc13a4 A G 6: 35,271,603 probably benign Het
Slc17a1 T A 13: 23,874,629 I22N probably damaging Het
Thsd7b C T 1: 130,218,181 probably benign Het
Ttn T C 2: 76,771,672 T18549A possibly damaging Het
Ugt2b37 G T 5: 87,251,839 P270Q probably damaging Het
Wdfy3 A T 5: 101,957,486 Y158* probably null Het
Zfp282 A T 6: 47,880,277 E148V probably damaging Het
Other mutations in Thumpd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00579:Thumpd3 APN 6 113047661 missense possibly damaging 0.94
IGL01113:Thumpd3 APN 6 113060060 missense probably benign 0.36
IGL01525:Thumpd3 APN 6 113047636 missense probably damaging 1.00
IGL01734:Thumpd3 APN 6 113066845 missense probably damaging 1.00
IGL01814:Thumpd3 APN 6 113063151 missense possibly damaging 0.64
IGL01901:Thumpd3 APN 6 113059971 missense probably benign 0.09
IGL01977:Thumpd3 APN 6 113059966 missense possibly damaging 0.96
IGL02697:Thumpd3 APN 6 113067295 missense probably benign 0.03
IGL02805:Thumpd3 APN 6 113066797 missense probably damaging 1.00
PIT4431001:Thumpd3 UTSW 6 113059978 missense probably benign 0.01
R0139:Thumpd3 UTSW 6 113067801 missense probably benign 0.00
R0386:Thumpd3 UTSW 6 113065660 critical splice donor site probably null
R1975:Thumpd3 UTSW 6 113055877 missense possibly damaging 0.92
R2125:Thumpd3 UTSW 6 113066788 missense probably benign 0.02
R3709:Thumpd3 UTSW 6 113055691 missense possibly damaging 0.65
R5439:Thumpd3 UTSW 6 113066864 splice site silent
R6074:Thumpd3 UTSW 6 113060010 missense possibly damaging 0.70
R6406:Thumpd3 UTSW 6 113055963 missense probably damaging 0.98
R7411:Thumpd3 UTSW 6 113056111 missense possibly damaging 0.92
R7464:Thumpd3 UTSW 6 113055769 missense probably benign 0.00
R7465:Thumpd3 UTSW 6 113047631 missense probably damaging 1.00
R7779:Thumpd3 UTSW 6 113059989 missense probably damaging 0.98
RF010:Thumpd3 UTSW 6 113056045 missense probably damaging 1.00
Z1088:Thumpd3 UTSW 6 113056030 missense probably benign 0.03
Posted On2013-12-09