Incidental Mutation 'IGL00952:Thumpd1'
ID27867
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Thumpd1
Ensembl Gene ENSMUSG00000030942
Gene NameTHUMP domain containing 1
Synonyms6330575P11Rik
Accession Numbers

Genbank: NM_145585; MGI: 2444479

Is this an essential gene? Probably non essential (E-score: 0.168) question?
Stock #IGL00952
Quality Score
Status
Chromosome7
Chromosomal Location119715093-119720798 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 119717009 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 239 (V239A)
Ref Sequence ENSEMBL: ENSMUSP00000033236 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033236] [ENSMUST00000047045]
Predicted Effect possibly damaging
Transcript: ENSMUST00000033236
AA Change: V239A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000033236
Gene: ENSMUSG00000030942
AA Change: V239A

DomainStartEndE-ValueType
THUMP 161 254 4.5e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000047045
SMART Domains Protein: ENSMUSP00000045160
Gene: ENSMUSG00000047026

DomainStartEndE-ValueType
Pfam:AMP-binding 64 478 5.8e-83 PFAM
Pfam:AMP-binding_C 486 566 1.4e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208774
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209175
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik T G 6: 40,964,799 I4S probably benign Het
Abca8b A G 11: 109,969,060 probably null Het
Aftph A T 11: 20,727,483 V42E probably damaging Het
AI467606 A G 7: 127,092,702 S150G probably damaging Het
Art4 T C 6: 136,854,820 N108D possibly damaging Het
B9d1 G A 11: 61,512,678 V167I possibly damaging Het
Ccdc47 A T 11: 106,203,532 probably null Het
Ccdc96 T A 5: 36,485,080 probably benign Het
Cfap44 A G 16: 44,421,275 I670V probably benign Het
Col18a1 T G 10: 77,069,979 K909Q possibly damaging Het
Col8a2 A G 4: 126,309,791 Y59C probably damaging Het
Coro6 A T 11: 77,468,465 D288V probably damaging Het
Cul4a C T 8: 13,146,562 L739F probably damaging Het
Dmxl2 C T 9: 54,416,882 V1073I probably damaging Het
Dnah11 T C 12: 118,196,651 T115A possibly damaging Het
Fdx1l A G 9: 21,073,262 probably null Het
Flnc C T 6: 29,459,547 Q2549* probably null Het
Foxn2 T C 17: 88,475,880 C188R probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Ilf3 T C 9: 21,396,051 L343P probably damaging Het
Itgb2l C T 16: 96,426,750 G518S probably damaging Het
Itpr2 T A 6: 146,158,961 I2486F probably damaging Het
Kat2a A G 11: 100,706,151 V681A probably damaging Het
Kif17 A G 4: 138,262,708 N69S possibly damaging Het
Kif26b G A 1: 178,932,205 D2106N probably damaging Het
Klf6 A G 13: 5,861,681 T15A probably benign Het
Lyst A G 13: 13,678,107 T2231A probably benign Het
Mark4 T C 7: 19,431,824 T515A possibly damaging Het
Mast3 A T 8: 70,780,683 probably benign Het
Nalcn T C 14: 123,348,789 K722R probably benign Het
Ncf2 G A 1: 152,836,106 E524K probably benign Het
Olfr1135 A T 2: 87,671,815 I184N probably damaging Het
Olfr510 A G 7: 108,668,238 N274S possibly damaging Het
Olfr681 A G 7: 105,122,407 probably null Het
Olfr895 A T 9: 38,268,505 probably benign Het
Plcg2 A T 8: 117,607,217 M910L probably benign Het
Pramef17 T C 4: 143,993,324 H157R probably benign Het
Rai1 A T 11: 60,187,992 K961* probably null Het
Rsph14 T C 10: 75,029,769 D112G probably benign Het
Sgo1 T A 17: 53,687,247 D59V probably damaging Het
Slc22a29 A T 19: 8,217,857 V138E probably damaging Het
Slc9a1 T A 4: 133,416,382 V393D probably damaging Het
Smg6 A G 11: 74,929,148 R82G probably benign Het
Sppl3 T C 5: 115,074,876 S55P probably benign Het
Srsf12 A C 4: 33,226,103 Q122P possibly damaging Het
Tas1r2 T C 4: 139,655,252 M67T probably benign Het
Thnsl1 G A 2: 21,211,956 V174I possibly damaging Het
Tnxb T G 17: 34,713,128 Y2212D probably damaging Het
Trim40 T C 17: 36,882,397 *213W probably null Het
Ttc16 T C 2: 32,770,247 D183G probably damaging Het
Other mutations in Thumpd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01151:Thumpd1 APN 7 119718195 missense probably damaging 0.97
IGL01327:Thumpd1 APN 7 119720702 missense probably benign 0.12
IGL02140:Thumpd1 APN 7 119717009 missense possibly damaging 0.95
IGL02945:Thumpd1 APN 7 119716747 missense possibly damaging 0.48
F6893:Thumpd1 UTSW 7 119720576 nonsense probably null
R4153:Thumpd1 UTSW 7 119720593 missense probably damaging 1.00
R4934:Thumpd1 UTSW 7 119716779 missense probably benign 0.00
R5475:Thumpd1 UTSW 7 119720720 missense probably benign
R5631:Thumpd1 UTSW 7 119720602 missense probably damaging 1.00
R6123:Thumpd1 UTSW 7 119717009 missense probably damaging 1.00
R6292:Thumpd1 UTSW 7 119720674 missense probably benign 0.38
R6351:Thumpd1 UTSW 7 119720605 missense possibly damaging 0.94
R7565:Thumpd1 UTSW 7 119716862 nonsense probably null
R8139:Thumpd1 UTSW 7 119720585 missense possibly damaging 0.82
Posted On2013-04-17