Incidental Mutation 'R6907:Exd1'
ID 538809
Institutional Source Beutler Lab
Gene Symbol Exd1
Ensembl Gene ENSMUSG00000048647
Gene Name exonuclease 3'-5' domain containing 1
Synonyms Exdl1, 4932702D22Rik
MMRRC Submission 044999-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6907 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 119346986-119378108 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119363957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 137 (V137A)
Ref Sequence ENSEMBL: ENSMUSP00000126713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060009] [ENSMUST00000171024]
AlphaFold Q8CDF7
Predicted Effect probably damaging
Transcript: ENSMUST00000060009
AA Change: V137A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000054980
Gene: ENSMUSG00000048647
AA Change: V137A

DomainStartEndE-ValueType
low complexity region 73 84 N/A INTRINSIC
35EXOc 134 325 2.29e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000171024
AA Change: V137A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126713
Gene: ENSMUSG00000048647
AA Change: V137A

DomainStartEndE-ValueType
low complexity region 73 84 N/A INTRINSIC
35EXOc 134 325 2.29e-4 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 97% (38/39)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 T C 8: 112,698,793 (GRCm39) I344V probably benign Het
Bmper A T 9: 23,310,868 (GRCm39) Q434L probably damaging Het
Cabyr A G 18: 12,883,969 (GRCm39) Y152C probably benign Het
Cactin G A 10: 81,159,278 (GRCm39) probably null Het
Cadps2 T C 6: 23,599,505 (GRCm39) D238G probably damaging Het
Card10 T C 15: 78,671,671 (GRCm39) T598A possibly damaging Het
Ctr9 C T 7: 110,629,449 (GRCm39) P25L probably damaging Het
Entpd5 T C 12: 84,424,127 (GRCm39) T409A probably benign Het
Fcgbp G A 7: 27,784,443 (GRCm39) G168R probably damaging Het
Ift88 A G 14: 57,683,067 (GRCm39) N248S probably benign Het
Kntc1 T A 5: 123,939,888 (GRCm39) Y1561N probably damaging Het
Mef2c A G 13: 83,802,730 (GRCm39) D227G probably benign Het
Myh2 C T 11: 67,084,567 (GRCm39) T1702M probably damaging Het
Myo1e T A 9: 70,234,437 (GRCm39) N263K probably benign Het
Nfe2l1 A G 11: 96,710,636 (GRCm39) L373P probably damaging Het
Nob1 C T 8: 108,142,860 (GRCm39) V274M possibly damaging Het
Ntng2 A G 2: 29,118,218 (GRCm39) C77R probably damaging Het
Nynrin T G 14: 56,101,335 (GRCm39) S335A probably benign Het
Or10ad1c T C 15: 98,085,649 (GRCm39) N10D probably damaging Het
Or5p55 T C 7: 107,567,459 (GRCm39) L285P probably damaging Het
Pcdh7 T A 5: 57,876,471 (GRCm39) W9R possibly damaging Het
Pcdha1 A G 18: 37,064,124 (GRCm39) T263A probably benign Het
Per3 C T 4: 151,128,015 (GRCm39) probably null Het
Pgbd5 A G 8: 125,107,021 (GRCm39) F265L probably damaging Het
Ppm1k T G 6: 57,487,755 (GRCm39) E356A probably benign Het
Ptgfr G T 3: 151,540,938 (GRCm39) T190K possibly damaging Het
Sec24a A G 11: 51,603,103 (GRCm39) Y782H probably damaging Het
Setd1b T C 5: 123,301,295 (GRCm39) probably benign Het
Sfpq GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC GCCGCCGCAGCAGCC 4: 126,915,419 (GRCm39) probably benign Het
Slc19a2 C T 1: 164,090,323 (GRCm39) T253I possibly damaging Het
Tcf4 C T 18: 69,785,484 (GRCm39) T207M probably damaging Het
Thada T C 17: 84,700,897 (GRCm39) N1203S probably damaging Het
Tln2 A T 9: 67,304,917 (GRCm39) S5T probably damaging Het
Traf4 C T 11: 78,051,268 (GRCm39) R296Q probably benign Het
Ttbk2 A G 2: 120,655,751 (GRCm39) S38P probably benign Het
Vrk1 G T 12: 106,041,291 (GRCm39) Q395H possibly damaging Het
Vwa3a G T 7: 120,391,804 (GRCm39) probably benign Het
Wdsub1 C T 2: 59,692,028 (GRCm39) V335I 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
R4827:Exd1 UTSW 2 119,350,807 (GRCm39) missense probably benign
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
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'- TGTTACTAGGGAAAGCATCAAGATC -3'
(R):5'- AAAGTGCTTTGTCTTGATCAGG -3'

Sequencing Primer
(F):5'- GGTGGCTCACAACCATCTGTAATG -3'
(R):5'- CTTGATCAGGCAAGATGGGTC -3'
Posted On 2018-11-06