Incidental Mutation 'IGL02805:Thumpd3'
ID 360376
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Thumpd3
Ensembl Gene ENSMUSG00000030264
Gene Name THUMP domain containing 3
Synonyms Gtrosa26as
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.373) question?
Stock # IGL02805
Quality Score
Status
Chromosome 6
Chromosomal Location 113046225-113068273 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113066797 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 391 (D391G)
Ref Sequence ENSEMBL: ENSMUSP00000032398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032398]
AlphaFold P97770
Predicted Effect probably damaging
Transcript: ENSMUST00000032398
AA Change: D391G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032398
Gene: ENSMUSG00000030264
AA Change: D391G

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,223,133 probably benign Het
Ankdd1b A G 13: 96,444,302 S163P probably benign Het
Ap5z1 G A 5: 142,470,283 probably benign Het
Asb14 A G 14: 26,901,187 N172S possibly damaging Het
Avil G A 10: 127,007,617 V139I possibly damaging Het
C130073F10Rik A T 4: 101,890,974 M1K probably null Het
Ccdc189 T C 7: 127,586,394 D121G possibly damaging Het
Ccdc33 T A 9: 58,098,591 I37F probably benign Het
Ccdc9 T C 7: 16,275,274 M550V probably benign Het
Cgn T A 3: 94,774,377 L469F probably damaging Het
Dnaaf3 C T 7: 4,523,705 G458R possibly damaging Het
Dscaml1 T A 9: 45,447,897 N151K probably damaging Het
Dsel A G 1: 111,862,316 V163A probably damaging Het
Dusp27 T C 1: 166,099,061 E994G probably damaging Het
Epg5 A G 18: 78,030,191 probably benign Het
Fanca A T 8: 123,289,494 I670N probably damaging Het
Fsip2 T C 2: 82,993,495 V6524A probably benign Het
Gm10985 T C 3: 53,845,093 probably null Het
Gm1818 C T 12: 48,555,735 noncoding transcript Het
Hars2 C T 18: 36,787,577 R158* probably null Het
Htr5b A G 1: 121,527,888 V101A probably damaging Het
Ipp A G 4: 116,529,688 I356V possibly damaging Het
Itga8 T A 2: 12,189,480 N703I possibly damaging Het
Olfr147 T A 9: 38,403,836 probably benign Het
Ppp6r3 T C 19: 3,492,428 N406D probably benign Het
Rbbp6 G A 7: 123,001,188 probably benign Het
Rgs7 T C 1: 175,149,696 Y114C probably damaging Het
Ripor1 A G 8: 105,617,571 T446A probably damaging Het
Rnf213 A G 11: 119,435,066 D1562G probably damaging Het
Scaf11 A T 15: 96,420,182 D500E possibly damaging Het
Spock1 A G 13: 57,907,577 I4T possibly damaging Het
Srebf2 C A 15: 82,169,844 N35K probably benign Het
Srgap3 G T 6: 112,727,263 H922N probably damaging Het
Stk32c A C 7: 139,121,846 H112Q probably damaging Het
Vmn2r38 T A 7: 9,075,547 H612L probably damaging Het
Vsig10l T G 7: 43,465,242 I289S probably damaging Het
Wwox G A 8: 114,712,013 G273E probably damaging Het
Zscan4d T G 7: 11,164,970 probably benign 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
IGL01560:Thumpd3 APN 6 113063159 missense possibly damaging 0.88
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
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
R8319:Thumpd3 UTSW 6 113063146 nonsense probably null
R9268:Thumpd3 UTSW 6 113066858 missense probably damaging 1.00
R9695:Thumpd3 UTSW 6 113047661 missense possibly damaging 0.93
RF010:Thumpd3 UTSW 6 113056045 missense probably damaging 1.00
Z1088:Thumpd3 UTSW 6 113056030 missense probably benign 0.03
Posted On 2015-12-18