Incidental Mutation 'IGL02697:Thumpd3'
ID 303996
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 # IGL02697
Quality Score
Status
Chromosome 6
Chromosomal Location 113023292-113045239 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 113044256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 423 (N423K)
Ref Sequence ENSEMBL: ENSMUSP00000032398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032398]
AlphaFold P97770
Predicted Effect probably benign
Transcript: ENSMUST00000032398
AA Change: N423K

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000032398
Gene: ENSMUSG00000030264
AA Change: N423K

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: ENSMUST00000124246
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133467
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153310
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159544
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167415
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg2 A T 4: 47,471,772 (GRCm39) N345K probably damaging Het
Atp13a5 T A 16: 29,167,350 (GRCm39) H151L probably benign Het
C2cd3 T C 7: 100,076,376 (GRCm39) probably benign Het
Cep57l1 G T 10: 41,598,950 (GRCm39) P212T possibly damaging Het
Coch G A 12: 51,643,821 (GRCm39) A135T probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cul5 A G 9: 53,566,631 (GRCm39) S134P probably benign Het
Cyp4f14 T C 17: 33,124,597 (GRCm39) T485A probably damaging Het
Dennd3 T C 15: 73,396,085 (GRCm39) F198S possibly damaging Het
Dennd5a C A 7: 109,493,988 (GRCm39) A1239S probably damaging Het
Dhx8 T C 11: 101,645,607 (GRCm39) I822T probably damaging Het
Dnah5 A T 15: 28,445,289 (GRCm39) M4142L probably benign Het
Dyrk4 T A 6: 126,875,971 (GRCm39) N88I possibly damaging Het
Emc1 T C 4: 139,079,955 (GRCm39) F9L probably benign Het
Gga1 A G 15: 78,769,546 (GRCm39) E173G probably damaging Het
H1f7 T C 15: 98,155,050 (GRCm39) K33R probably benign Het
Hepacam2 A T 6: 3,476,036 (GRCm39) H296Q possibly damaging Het
Ipo9 G T 1: 135,318,314 (GRCm39) Q699K probably benign Het
Jmy A T 13: 93,596,209 (GRCm39) Y473* probably null Het
Kdm5b A T 1: 134,516,511 (GRCm39) probably benign Het
Kit A G 5: 75,767,919 (GRCm39) S101G probably benign Het
Krtap4-9 T A 11: 99,676,574 (GRCm39) V165E unknown Het
Lnpep T A 17: 17,773,455 (GRCm39) M639L probably benign Het
Lrp10 C T 14: 54,707,154 (GRCm39) P664S probably damaging Het
Nrde2 A T 12: 100,097,466 (GRCm39) L778H probably damaging Het
Oat A T 7: 132,171,684 (GRCm39) probably null Het
Pfkl A T 10: 77,835,752 (GRCm39) S219T probably benign Het
Phtf1 C T 3: 103,904,879 (GRCm39) A509V probably benign Het
Pigz T A 16: 31,763,577 (GRCm39) probably null Het
Pltp T A 2: 164,682,446 (GRCm39) Y344F probably benign Het
Ppp6r2 A G 15: 89,140,958 (GRCm39) Y107C probably benign Het
Ptprk A G 10: 28,451,614 (GRCm39) D1034G possibly damaging Het
Rell1 C T 5: 64,084,354 (GRCm39) V221I probably damaging Het
Skint5 A G 4: 113,336,910 (GRCm39) F1429S probably benign Het
Slc22a28 T A 19: 8,094,491 (GRCm39) T177S probably benign Het
Stxbp5 G T 10: 9,638,700 (GRCm39) S1033* probably null Het
Tgs1 A G 4: 3,585,564 (GRCm39) D147G probably benign Het
Tns3 G T 11: 8,442,346 (GRCm39) D672E probably benign Het
Vmn2r61 T A 7: 41,924,892 (GRCm39) V482E possibly damaging Het
Vmn2r72 G T 7: 85,387,879 (GRCm39) Q562K probably benign Het
Zan T C 5: 137,398,810 (GRCm39) T4185A unknown 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
IGL01525:Thumpd3 APN 6 113,024,597 (GRCm39) missense probably damaging 1.00
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
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 2015-04-16