Incidental Mutation 'IGL01901:Thumpd3'
ID 179532
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 # IGL01901
Quality Score
Status
Chromosome 6
Chromosomal Location 113023292-113045239 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113036932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 277 (H277R)
Ref Sequence ENSEMBL: ENSMUSP00000032398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032398] [ENSMUST00000155378]
AlphaFold P97770
Predicted Effect probably benign
Transcript: ENSMUST00000032398
AA Change: H277R

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000032398
Gene: ENSMUSG00000030264
AA Change: H277R

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: ENSMUST00000137396
Predicted Effect probably benign
Transcript: ENSMUST00000155378
SMART Domains Protein: ENSMUSP00000120509
Gene: ENSMUSG00000030264

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 noncoding transcript
Transcript: ENSMUST00000204786
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 A G 14: 66,272,678 (GRCm39) probably benign Het
Aldh1a7 T G 19: 20,695,103 (GRCm39) Y154S probably damaging Het
Casc3 A G 11: 98,713,947 (GRCm39) D393G probably damaging Het
Cd180 A G 13: 102,842,936 (GRCm39) I661V probably benign Het
Cdh1 T C 8: 107,384,392 (GRCm39) S287P probably damaging Het
Clnk T C 5: 38,952,321 (GRCm39) N6S probably damaging Het
Cstdc6 C A 16: 36,154,625 (GRCm39) A11S probably damaging Het
Cyp17a1 C T 19: 46,659,531 (GRCm39) V100M possibly damaging Het
Ddhd2 A G 8: 26,238,621 (GRCm39) V53A probably damaging Het
Elovl7 T A 13: 108,410,927 (GRCm39) probably null Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm14180 A G 11: 99,625,053 (GRCm39) S22P unknown Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Golga5 G A 12: 102,446,061 (GRCm39) probably null Het
Gpr162 A T 6: 124,838,370 (GRCm39) F93L possibly damaging Het
Kcnh8 G A 17: 53,201,148 (GRCm39) probably benign Het
Lamp3 A T 16: 19,492,169 (GRCm39) F358L probably damaging Het
Mdn1 T G 4: 32,669,591 (GRCm39) D409E probably damaging Het
Ms4a10 T C 19: 10,940,374 (GRCm39) D211G probably benign Het
Ms4a3 T C 19: 11,616,630 (GRCm39) E4G possibly damaging Het
Myo15a A G 11: 60,418,260 (GRCm39) probably benign Het
Or2ag16 A G 7: 106,351,752 (GRCm39) V281A possibly damaging Het
Or4c10b A G 2: 89,711,826 (GRCm39) I219V probably damaging Het
Or51aa2 A T 7: 103,188,177 (GRCm39) L88Q probably damaging Het
Or51q1c A G 7: 103,653,274 (GRCm39) H264R probably damaging Het
Or5b12 T C 19: 12,896,947 (GRCm39) H242R probably damaging Het
Or6c217 A G 10: 129,737,722 (GRCm39) F286L probably benign Het
Penk T C 4: 4,134,465 (GRCm39) I61V probably benign Het
Pkhd1 T A 1: 20,290,307 (GRCm39) K2860N probably benign Het
Prtg C T 9: 72,762,348 (GRCm39) P492S probably damaging Het
Spata31e2 A G 1: 26,721,665 (GRCm39) F1172L probably benign Het
Tdrd7 T C 4: 45,989,225 (GRCm39) probably benign Het
Terf2ip A G 8: 112,738,700 (GRCm39) N196S probably benign Het
Tgtp1 T C 11: 48,878,382 (GRCm39) N108D possibly damaging Het
Tshz2 T A 2: 169,727,456 (GRCm39) L215Q possibly damaging Het
Ube3c T A 5: 29,873,005 (GRCm39) V1015E probably damaging Het
Utrn T A 10: 12,516,672 (GRCm39) K2307N probably damaging Het
Vmn1r75 A G 7: 11,614,739 (GRCm39) Y157C probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript 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
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 2014-05-07