Incidental Mutation 'IGL01734:Thumpd3'
ID105624
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? Possibly essential (E-score: 0.527) question?
Stock #IGL01734
Quality Score
Status
Chromosome6
Chromosomal Location113046225-113068273 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 113066845 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 407 (T407K)
Ref Sequence ENSEMBL: ENSMUSP00000032398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032398]
Predicted Effect probably damaging
Transcript: ENSMUST00000032398
AA Change: T407K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000032398
Gene: ENSMUSG00000030264
AA Change: T407K

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932442E05Rik T A 10: 118,861,466 W210R possibly damaging Het
Aknad1 T C 3: 108,751,901 M77T probably benign Het
Aox2 A T 1: 58,354,310 I1210F possibly damaging Het
Brd8 A T 18: 34,614,805 probably benign Het
Cdh23 T C 10: 60,303,513 D3307G probably benign Het
Chsy1 T C 7: 66,171,310 I431T probably damaging Het
Cobl A G 11: 12,254,980 probably benign Het
Col28a1 T C 6: 8,158,134 D308G probably damaging Het
Csmd3 A G 15: 48,185,304 Y568H probably damaging Het
Dmrt3 T C 19: 25,622,583 I264T probably damaging Het
Dusp22 G T 13: 30,696,252 C52F probably damaging Het
Fbxw22 A C 9: 109,383,925 M318R probably damaging Het
Ffar4 C T 19: 38,113,847 T310M probably damaging Het
Fn1 A G 1: 71,619,485 V1138A probably damaging Het
Glt6d1 T A 2: 25,794,493 Y167F probably benign Het
Hydin T A 8: 110,490,789 Y1436* probably null Het
Il12a G A 3: 68,691,555 C2Y possibly damaging Het
Inpp5a T C 7: 139,454,090 Y38H possibly damaging Het
Jmy A C 13: 93,459,651 L490R probably damaging Het
Kif26a T A 12: 112,176,828 L1172H probably benign Het
Kmo A T 1: 175,655,102 M331L probably benign Het
Lonp1 G A 17: 56,616,026 T627M probably damaging Het
Lrrc41 T C 4: 116,093,134 probably null Het
Mast4 A T 13: 102,737,615 S1556R probably damaging Het
Mmel1 A G 4: 154,891,951 N490S probably benign Het
Mpped2 A G 2: 106,783,813 D164G probably damaging Het
Nap1l1 A G 10: 111,492,899 T230A probably benign Het
Nrap C A 19: 56,350,309 A913S probably damaging Het
Nudt16 G T 9: 105,131,508 Q65K probably benign Het
Olfr1039 T A 2: 86,131,668 probably benign Het
Olfr199 T G 16: 59,216,429 L61F probably benign Het
Olfr201 T A 16: 59,268,850 K272N probably benign Het
Olfr382 C A 11: 73,516,636 A188S probably benign Het
Olfr813 T A 10: 129,856,802 C95S probably benign Het
Parp14 A G 16: 35,858,600 F333L probably benign Het
Pi4ka G T 16: 17,297,260 Q1422K probably benign Het
Polr3c T C 3: 96,713,520 E494G probably damaging Het
Prss42 C A 9: 110,798,343 P49Q probably benign Het
Ptpra C T 2: 130,544,077 T568I probably damaging Het
Ring1 T C 17: 34,023,320 D71G probably damaging Het
Siae T A 9: 37,631,486 S193T probably damaging Het
Slf2 T C 19: 44,973,267 probably null Het
Spinkl T A 18: 44,174,572 K7N possibly damaging Het
Tbk1 G A 10: 121,571,983 R82* probably null Het
Tcf12 T C 9: 71,922,648 probably null Het
Tcl1b5 G A 12: 105,178,955 M59I probably benign Het
Timm29 T C 9: 21,593,735 V233A probably damaging Het
Tns3 A G 11: 8,519,192 probably benign Het
Ubash3b T C 9: 41,026,247 probably benign Het
Ugdh G T 5: 65,422,688 T253K probably benign Het
Zfp143 T A 7: 110,072,209 probably benign Het
Zfp738 A G 13: 67,683,444 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
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
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
Z1088:Thumpd3 UTSW 6 113056030 missense probably benign 0.03
Posted On2014-01-21