Incidental Mutation 'R4827:Exd1'
ID 372478
Institutional Source Beutler Lab
Gene Symbol Exd1
Ensembl Gene ENSMUSG00000048647
Gene Name exonuclease 3'-5' domain containing 1
Synonyms Exdl1, 4932702D22Rik
MMRRC Submission 042443-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4827 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 119346986-119378108 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 119350807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 485 (A485T)
Ref Sequence ENSEMBL: ENSMUSP00000126713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060009] [ENSMUST00000171024]
AlphaFold Q8CDF7
Predicted Effect probably benign
Transcript: ENSMUST00000060009
AA Change: A485T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000054980
Gene: ENSMUSG00000048647
AA Change: A485T

DomainStartEndE-ValueType
low complexity region 73 84 N/A INTRINSIC
35EXOc 134 325 2.29e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171024
AA Change: A485T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126713
Gene: ENSMUSG00000048647
AA Change: A485T

DomainStartEndE-ValueType
low complexity region 73 84 N/A INTRINSIC
35EXOc 134 325 2.29e-4 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 96% (67/70)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 A G 12: 88,413,489 (GRCm39) R274G probably benign Het
Agbl5 T G 5: 31,053,158 (GRCm39) S83R probably damaging Het
Ankib1 A G 5: 3,751,907 (GRCm39) I711T probably damaging Het
Arnt T A 3: 95,397,224 (GRCm39) probably null Het
Atad2 C G 15: 57,971,744 (GRCm39) V702L probably benign Het
B4galnt4 A G 7: 140,648,392 (GRCm39) E636G probably benign Het
Btbd2 A G 10: 80,482,223 (GRCm39) I244T probably damaging Het
Cenpc1 A T 5: 86,182,290 (GRCm39) N531K possibly damaging Het
Ces3b T A 8: 105,813,527 (GRCm39) M266K probably benign Het
Cfap54 A T 10: 92,737,937 (GRCm39) probably benign Het
Coq8a A G 1: 179,994,903 (GRCm39) V590A possibly damaging Het
Drc7 A G 8: 95,798,267 (GRCm39) Y504C probably damaging Het
Elovl4 T C 9: 83,688,091 (GRCm39) M1V probably null Het
Fads2 A G 19: 10,059,958 (GRCm39) F239L probably benign Het
Gcc2 A T 10: 58,121,953 (GRCm39) probably null Het
Ggact C T 14: 123,128,987 (GRCm39) R76H probably benign Het
Gm17535 T A 9: 3,035,786 (GRCm39) L218H probably benign Het
Gm3739 A T 14: 18,506,218 (GRCm39) F13I probably damaging Het
Gng2 T C 14: 19,925,898 (GRCm39) K65E possibly damaging Het
Gnmt A G 17: 47,038,245 (GRCm39) Y94H possibly damaging Het
Gzme C A 14: 56,356,755 (GRCm39) R69M probably null Het
Hdc G A 2: 126,436,233 (GRCm39) P546L probably benign Het
Ibtk C A 9: 85,610,607 (GRCm39) V326F probably benign Het
Inpp5b G T 4: 124,637,643 (GRCm39) probably benign Het
Kcnh7 A T 2: 62,546,564 (GRCm39) C1006S probably benign Het
Kcnk18 A T 19: 59,208,362 (GRCm39) N66I probably damaging Het
Lpar6 T A 14: 73,476,190 (GRCm39) N50K probably damaging Het
Lrba G T 3: 86,267,457 (GRCm39) D1716Y possibly damaging Het
Ltf T A 9: 110,856,445 (GRCm39) probably benign Het
Map3k6 A G 4: 132,976,160 (GRCm39) T794A possibly damaging Het
Mcm8 A G 2: 132,665,174 (GRCm39) T217A probably damaging Het
Meaf6 A G 4: 124,996,713 (GRCm39) E141G probably damaging Het
Mmp13 A G 9: 7,278,880 (GRCm39) T324A possibly damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Msl2 T G 9: 100,979,350 (GRCm39) F575V probably benign Het
Ncoa4-ps C T 12: 119,225,529 (GRCm39) noncoding transcript Het
Nlrp2 A T 7: 5,331,950 (GRCm39) W149R possibly damaging Het
Ntng1 C A 3: 110,042,727 (GRCm39) C33F probably damaging Het
Nxn A G 11: 76,152,418 (GRCm39) Y359H probably benign Het
Olfml2a A C 2: 38,850,033 (GRCm39) D583A probably damaging Het
Or12j5 A C 7: 140,083,583 (GRCm39) L263R probably damaging Het
Or1e32 A T 11: 73,705,547 (GRCm39) Y120* probably null Het
Or2t48 A G 11: 58,420,422 (GRCm39) I130T probably damaging Het
Or4b1b A T 2: 90,112,547 (GRCm39) I124N probably damaging Het
Or51ac3 A T 7: 103,213,752 (GRCm39) S245T probably damaging Het
Pcdha4 T C 18: 37,086,251 (GRCm39) S145P probably damaging Het
Pcsk2 A T 2: 143,643,099 (GRCm39) K459* probably null Het
Pirb C T 7: 3,720,602 (GRCm39) G299S probably benign Het
Plch2 A G 4: 155,075,570 (GRCm39) F653S probably damaging Het
Plpp3 T C 4: 105,088,167 (GRCm39) I296T probably benign Het
Polr2b A G 5: 77,490,398 (GRCm39) E846G probably benign Het
Ptpro A T 6: 137,419,708 (GRCm39) N157Y probably damaging Het
Ralgapa1 A G 12: 55,723,222 (GRCm39) L1815P probably damaging Het
Sap18 A G 14: 58,036,020 (GRCm39) N69D probably damaging Het
Sncg C A 14: 34,095,284 (GRCm39) V74F probably damaging Het
Spata31e2 T C 1: 26,724,923 (GRCm39) K86E possibly damaging Het
Spmip4 A C 6: 50,572,836 (GRCm39) S26A possibly damaging Het
Tmem186 A T 16: 8,453,681 (GRCm39) Y193* probably null Het
Trrap A G 5: 144,737,758 (GRCm39) S1045G probably benign Het
Tti2 T G 8: 31,640,998 (GRCm39) S41A probably benign Het
Unc13c T C 9: 73,838,568 (GRCm39) E761G probably damaging Het
Vamp2 T A 11: 68,980,637 (GRCm39) D68E probably benign Het
Vmn1r200 A T 13: 22,579,265 (GRCm39) M14L probably benign Het
Vps35 T A 8: 86,000,186 (GRCm39) D480V possibly damaging Het
Zfp462 T C 4: 55,012,213 (GRCm39) L1393P probably damaging Het
Zfp512 G A 5: 31,630,158 (GRCm39) M274I probably benign Het
Znfx1 C G 2: 166,886,151 (GRCm39) G803A possibly damaging Het
Other mutations in Exd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Exd1 APN 2 119,360,560 (GRCm39) splice site probably benign
IGL02032:Exd1 APN 2 119,363,948 (GRCm39) missense probably damaging 1.00
IGL02040:Exd1 APN 2 119,370,546 (GRCm39) missense possibly damaging 0.79
IGL02831:Exd1 APN 2 119,359,235 (GRCm39) missense probably damaging 1.00
IGL03008:Exd1 APN 2 119,350,862 (GRCm39) missense probably benign 0.01
R0350:Exd1 UTSW 2 119,354,047 (GRCm39) missense possibly damaging 0.64
R1423:Exd1 UTSW 2 119,370,494 (GRCm39) splice site probably benign
R1466:Exd1 UTSW 2 119,351,215 (GRCm39) splice site probably benign
R1524:Exd1 UTSW 2 119,355,155 (GRCm39) missense probably damaging 0.98
R2011:Exd1 UTSW 2 119,359,144 (GRCm39) intron probably benign
R2026:Exd1 UTSW 2 119,350,786 (GRCm39) missense probably benign
R4711:Exd1 UTSW 2 119,369,232 (GRCm39) missense possibly damaging 0.91
R4828:Exd1 UTSW 2 119,350,807 (GRCm39) missense probably benign
R4829:Exd1 UTSW 2 119,350,807 (GRCm39) missense probably benign
R4830:Exd1 UTSW 2 119,350,807 (GRCm39) missense probably benign
R5799:Exd1 UTSW 2 119,369,262 (GRCm39) missense probably benign 0.01
R6570:Exd1 UTSW 2 119,350,654 (GRCm39) missense probably benign
R6654:Exd1 UTSW 2 119,355,198 (GRCm39) critical splice acceptor site probably null
R6907:Exd1 UTSW 2 119,363,957 (GRCm39) missense probably damaging 1.00
R7325:Exd1 UTSW 2 119,350,620 (GRCm39) missense probably benign 0.28
R7684:Exd1 UTSW 2 119,350,684 (GRCm39) missense probably damaging 1.00
R7921:Exd1 UTSW 2 119,360,580 (GRCm39) missense probably damaging 0.99
R8029:Exd1 UTSW 2 119,359,204 (GRCm39) missense probably damaging 1.00
R8428:Exd1 UTSW 2 119,369,348 (GRCm39) missense possibly damaging 0.80
R8516:Exd1 UTSW 2 119,350,554 (GRCm39) missense probably damaging 0.97
R9136:Exd1 UTSW 2 119,359,385 (GRCm39) missense probably damaging 1.00
R9390:Exd1 UTSW 2 119,354,180 (GRCm39) missense probably damaging 1.00
R9451:Exd1 UTSW 2 119,355,064 (GRCm39) missense possibly damaging 0.91
R9655:Exd1 UTSW 2 119,350,855 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TGAGTCTGTCTTCTCCAGGG -3'
(R):5'- TGTCCCAAATCTCATGAGGATG -3'

Sequencing Primer
(F):5'- GAGACCTCAGCTTTTTCAGGAAG -3'
(R):5'- TGAGGATGAGAAGTTTTTGGATAAAG -3'
Posted On 2016-03-01