Incidental Mutation 'IGL02040:Exd1'
ID184696
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Exd1
Ensembl Gene ENSMUSG00000048647
Gene Nameexonuclease 3'-5' domain containing 1
SynonymsExdl1, 4932702D22Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02040
Quality Score
Status
Chromosome2
Chromosomal Location119516505-119547627 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 119540065 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 54 (V54A)
Ref Sequence ENSEMBL: ENSMUSP00000116082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060009] [ENSMUST00000133668] [ENSMUST00000171024]
Predicted Effect possibly damaging
Transcript: ENSMUST00000060009
AA Change: V54A

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000054980
Gene: ENSMUSG00000048647
AA Change: V54A

DomainStartEndE-ValueType
low complexity region 73 84 N/A INTRINSIC
35EXOc 134 325 2.29e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000133668
AA Change: V54A

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116082
Gene: ENSMUSG00000048647
AA Change: V54A

DomainStartEndE-ValueType
low complexity region 73 84 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000171024
AA Change: V54A

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126713
Gene: ENSMUSG00000048647
AA Change: V54A

DomainStartEndE-ValueType
low complexity region 73 84 N/A INTRINSIC
35EXOc 134 325 2.29e-4 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are fertile and viable, but exhibit defective biogenesis of antisense piRNAs and activation of transposons in male germ cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik T G 5: 3,580,405 F107C probably damaging Het
4930590J08Rik T C 6: 91,918,110 V262A probably benign Het
A830018L16Rik T A 1: 11,933,598 probably benign Het
Adgrb1 T C 15: 74,541,575 V536A possibly damaging Het
Ano6 T G 15: 95,955,944 I667R probably benign Het
Ap3b1 T A 13: 94,408,845 probably null Het
Azin2 G T 4: 128,950,658 L37M possibly damaging Het
Caap1 A G 4: 94,550,430 I174T probably damaging Het
Cacna1h A G 17: 25,397,611 V46A probably benign Het
Chrna6 T C 8: 27,407,261 D196G probably damaging Het
Col19a1 A G 1: 24,312,045 probably null Het
Defb22 G T 2: 152,490,056 T19K possibly damaging Het
Dhx36 T C 3: 62,501,015 D134G probably benign Het
Dync1h1 A G 12: 110,637,124 I2211V probably benign Het
Ecel1 A C 1: 87,154,923 C23G probably benign Het
Elmod2 A G 8: 83,321,497 V112A probably damaging Het
Enpp1 T C 10: 24,655,856 K510E probably damaging Het
Erbb4 A T 1: 68,042,535 S1113R probably damaging Het
Esf1 A T 2: 140,129,261 D653E possibly damaging Het
Fam227b A T 2: 126,121,084 probably benign Het
Fnbp1l A G 3: 122,570,953 probably benign Het
Foxf1 A G 8: 121,085,345 N316S probably damaging Het
Gm12794 G A 4: 101,941,134 V101I possibly damaging Het
Gm15448 A G 7: 3,821,517 probably benign Het
Gpaa1 T C 15: 76,334,295 V426A probably benign Het
Gpc2 A G 5: 138,276,582 probably null Het
Hnrnpab A G 11: 51,601,795 probably benign Het
Hsf4 T G 8: 105,275,667 probably benign Het
Inpp4a G T 1: 37,396,085 R179L probably damaging Het
Jakmip2 T A 18: 43,571,854 M361L probably benign Het
Kif15 A C 9: 123,017,385 Y117S probably damaging Het
Lnpep T C 17: 17,544,905 H761R probably benign Het
Masp2 G T 4: 148,603,813 C180F probably damaging Het
Mical2 A G 7: 112,311,406 E261G probably damaging Het
Mtmr7 T C 8: 40,560,885 I211V probably benign Het
Nsd2 T C 5: 33,867,571 probably benign Het
Olfr1062 A G 2: 86,422,992 I228T probably damaging Het
Olfr1226 A G 2: 89,193,563 I157T probably benign Het
Olfr638 A G 7: 104,003,407 N44S probably damaging Het
Olfr933 T C 9: 38,976,614 probably benign Het
Oxct1 G A 15: 4,026,768 probably benign Het
Plbd2 C T 5: 120,487,442 S430N probably damaging Het
Postn A G 3: 54,362,689 K63R probably benign Het
Proc A T 18: 32,134,860 V75E probably benign Het
Ptprt T C 2: 162,238,072 Y269C probably damaging Het
Rcc2 T C 4: 140,720,591 V476A possibly damaging Het
Recql5 A G 11: 115,932,797 V41A possibly damaging Het
Ros1 T A 10: 52,115,922 I1402F probably damaging Het
Rpgrip1 C T 14: 52,121,019 T194I possibly damaging Het
Scin T C 12: 40,069,453 probably benign Het
Skint4 T C 4: 112,146,482 probably benign Het
Sptan1 T A 2: 30,013,713 S1545T probably benign Het
Tpra1 A T 6: 88,910,182 H168L possibly damaging Het
Trim47 T C 11: 116,107,908 E295G probably damaging Het
Ttc28 T A 5: 110,892,936 C63* probably null Het
Usp45 G A 4: 21,830,433 R696H probably benign Het
Zfyve27 G A 19: 42,179,391 R124Q probably damaging Het
Other mutations in Exd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Exd1 APN 2 119530079 splice site probably benign
IGL02032:Exd1 APN 2 119533467 missense probably damaging 1.00
IGL02831:Exd1 APN 2 119528754 missense probably damaging 1.00
IGL03008:Exd1 APN 2 119520381 missense probably benign 0.01
R0350:Exd1 UTSW 2 119523566 missense possibly damaging 0.64
R1423:Exd1 UTSW 2 119540013 splice site probably benign
R1466:Exd1 UTSW 2 119520734 splice site probably benign
R1524:Exd1 UTSW 2 119524674 missense probably damaging 0.98
R2011:Exd1 UTSW 2 119528663 intron probably benign
R2026:Exd1 UTSW 2 119520305 missense probably benign
R4711:Exd1 UTSW 2 119538751 missense possibly damaging 0.91
R4827:Exd1 UTSW 2 119520326 missense probably benign
R4828:Exd1 UTSW 2 119520326 missense probably benign
R4829:Exd1 UTSW 2 119520326 missense probably benign
R4830:Exd1 UTSW 2 119520326 missense probably benign
R5799:Exd1 UTSW 2 119538781 missense probably benign 0.01
R6570:Exd1 UTSW 2 119520173 missense probably benign
R6654:Exd1 UTSW 2 119524717 critical splice acceptor site probably null
R6907:Exd1 UTSW 2 119533476 missense probably damaging 1.00
R7325:Exd1 UTSW 2 119520139 missense probably benign 0.28
Posted On2014-05-07