Incidental Mutation 'IGL03357:Thumpd2'
ID420001
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Thumpd2
Ensembl Gene ENSMUSG00000024246
Gene NameTHUMP domain containing 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL03357
Quality Score
Status
Chromosome17
Chromosomal Location81026327-81065085 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 81044090 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025093]
Predicted Effect probably benign
Transcript: ENSMUST00000025093
SMART Domains Protein: ENSMUSP00000025093
Gene: ENSMUSG00000024246

DomainStartEndE-ValueType
THUMP 175 266 4.08e-2 SMART
Pfam:UPF0020 272 425 3e-27 PFAM
Pfam:CMAS 284 429 3e-7 PFAM
Pfam:Ubie_methyltran 285 417 3e-10 PFAM
Pfam:MTS 289 417 2.1e-7 PFAM
Pfam:Methyltransf_31 296 441 7.8e-14 PFAM
Pfam:Methyltransf_11 303 406 1.9e-10 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak C T 19: 9,009,325 probably benign Het
Asah1 A G 8: 41,346,196 probably benign Het
BC005561 T G 5: 104,520,468 V952G probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Chd6 T C 2: 161,018,016 probably benign Het
Chn2 G A 6: 54,194,077 R47Q probably benign Het
Clmp A G 9: 40,686,327 probably benign Het
Col11a1 G A 3: 114,194,091 G245R probably damaging Het
Cyp4a32 T A 4: 115,611,601 S395T probably benign Het
Dcc A T 18: 71,327,554 I1155K probably damaging Het
Dpy19l4 G A 4: 11,267,615 H442Y probably damaging Het
Dpys T C 15: 39,824,216 I395M probably damaging Het
Dpysl2 T C 14: 66,813,287 K374E probably damaging Het
Fryl A T 5: 73,054,059 D660E probably damaging Het
Gabrb2 T C 11: 42,591,944 F210L probably damaging Het
Gm4831 C T 17: 37,111,987 probably benign Het
Igsf10 A T 3: 59,336,211 M234K probably benign Het
Ints11 T C 4: 155,872,124 probably benign Het
Mex3a T A 3: 88,536,246 S210T probably benign Het
Olfr1290 C T 2: 111,489,944 M71I probably benign Het
Olfr1302 G A 2: 111,780,526 V69I probably benign Het
Pde1c A G 6: 56,180,093 V106A probably damaging Het
Pitpnm3 G A 11: 72,070,890 Q284* probably null Het
Pkd1l2 A G 8: 116,995,809 L2420P probably damaging Het
Prpf39 A G 12: 65,061,437 probably benign Het
Prss28 C T 17: 25,309,695 T37I probably benign Het
Serpinb6c A T 13: 33,895,386 S108T probably benign Het
Snx7 T C 3: 117,838,875 H131R probably damaging Het
Tex101 A T 7: 24,668,333 I198K probably damaging Het
Ubqln3 A C 7: 104,142,556 I109S probably benign Het
Zfp212 A T 6: 47,930,837 N250I probably benign Het
Other mutations in Thumpd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01750:Thumpd2 APN 17 81054386 missense probably benign 0.00
IGL02409:Thumpd2 APN 17 81032688 missense probably damaging 1.00
IGL02546:Thumpd2 APN 17 81054455 missense probably benign 0.16
R1295:Thumpd2 UTSW 17 81055888 missense probably damaging 1.00
R2030:Thumpd2 UTSW 17 81064958 missense probably damaging 1.00
R2898:Thumpd2 UTSW 17 81044128 nonsense probably null
R4805:Thumpd2 UTSW 17 81026701 missense probably damaging 0.98
R4861:Thumpd2 UTSW 17 81026801 missense probably benign 0.03
R4861:Thumpd2 UTSW 17 81026801 missense probably benign 0.03
R5328:Thumpd2 UTSW 17 81044162 missense possibly damaging 0.64
R5359:Thumpd2 UTSW 17 81026777 missense probably benign 0.16
R6207:Thumpd2 UTSW 17 81055837 missense probably damaging 1.00
R6218:Thumpd2 UTSW 17 81052913 missense probably damaging 1.00
R6484:Thumpd2 UTSW 17 81054188 missense probably benign 0.01
R6853:Thumpd2 UTSW 17 81065030 missense possibly damaging 0.75
R6855:Thumpd2 UTSW 17 81044170 missense probably damaging 1.00
R6917:Thumpd2 UTSW 17 81044114 missense probably benign 0.00
R7018:Thumpd2 UTSW 17 81055897 nonsense probably null
Posted On2016-08-02