Incidental Mutation 'R1423:Exd1'
ID161157
Institutional Source Beutler Lab
Gene Symbol Exd1
Ensembl Gene ENSMUSG00000048647
Gene Nameexonuclease 3'-5' domain containing 1
SynonymsExdl1, 4932702D22Rik
MMRRC Submission 039479-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1423 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location119516505-119547627 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 119540013 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060009] [ENSMUST00000133668] [ENSMUST00000171024]
Predicted Effect probably benign
Transcript: ENSMUST00000060009
SMART Domains Protein: ENSMUSP00000054980
Gene: ENSMUSG00000048647

DomainStartEndE-ValueType
low complexity region 73 84 N/A INTRINSIC
35EXOc 134 325 2.29e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133668
SMART Domains Protein: ENSMUSP00000116082
Gene: ENSMUSG00000048647

DomainStartEndE-ValueType
low complexity region 73 84 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171024
SMART Domains Protein: ENSMUSP00000126713
Gene: ENSMUSG00000048647

DomainStartEndE-ValueType
low complexity region 73 84 N/A INTRINSIC
35EXOc 134 325 2.29e-4 SMART
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 88.8%
Validation Efficiency 100% (48/48)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3632451O06Rik T C 14: 49,751,439 E691G probably damaging Het
Ankrd13d A G 19: 4,281,069 S64P probably damaging Het
Bag4 T C 8: 25,768,274 S342G probably damaging Het
Bbs1 G A 19: 4,894,263 T446I probably benign Het
Bmyc A G 2: 25,707,224 D100G probably damaging Het
Btbd7 T C 12: 102,785,475 D1010G possibly damaging Het
Celsr3 A T 9: 108,826,905 T196S probably benign Het
Crtam C A 9: 40,973,622 R161L probably benign Het
Cyp11b2 C A 15: 74,853,130 G290V probably damaging Het
Edc4 C T 8: 105,891,211 probably benign Het
Fam120a G T 13: 48,885,743 A979E possibly damaging Het
Fbxo16 T C 14: 65,287,174 probably benign Het
Fbxo44 C G 4: 148,156,269 R220S probably damaging Het
Gabrb2 A G 11: 42,529,471 N173S probably damaging Het
Gm13741 A T 2: 87,656,330 I197K possibly damaging Het
Helb T A 10: 120,108,966 I222F probably damaging Het
Hesx1 A T 14: 27,001,919 Q153L probably null Het
Isca1 T C 13: 59,762,779 N33S probably benign Het
Itsn2 T C 12: 4,673,572 V1142A probably damaging Het
Lama5 T G 2: 180,195,641 T984P probably damaging Het
Lima1 T A 15: 99,819,745 K127* probably null Het
Lmbrd1 T A 1: 24,746,878 V418D probably damaging Het
Mertk T C 2: 128,778,963 V575A probably damaging Het
Mkl2 T C 16: 13,412,241 V930A possibly damaging Het
Mrps28 T C 3: 8,900,124 H85R probably benign Het
Naip2 C T 13: 100,161,860 G556D probably benign Het
Naip2 G A 13: 100,154,872 S1186F possibly damaging Het
Naip2 TCCC TCC 13: 100,154,847 probably benign Het
Naip2 G A 13: 100,154,878 T1184M probably benign Het
Nhlrc3 A T 3: 53,462,415 L45H probably damaging Het
Olfr285 T C 15: 98,313,443 T36A probably damaging Het
Olfr654 C T 7: 104,588,475 R224* probably null Het
Olfr678 T G 7: 105,070,019 M184R probably damaging Het
Parp14 G A 16: 35,856,760 A946V probably benign Het
Pcdhb15 A T 18: 37,473,922 D69V probably damaging Het
Pitpnm1 G A 19: 4,112,392 R1074H probably damaging Het
Plb1 A G 5: 32,293,257 N381D probably benign Het
Poc1b T C 10: 99,152,863 S247P probably damaging Het
Prl7b1 T A 13: 27,602,127 N186I probably damaging Het
Riok1 T C 13: 38,049,114 M241T probably damaging Het
Tigit T C 16: 43,649,032 E232G probably benign Het
Tpst2 T A 5: 112,307,622 L9Q probably benign Het
Ttbk1 T C 17: 46,446,154 probably benign Het
Vmn1r3 A T 4: 3,185,231 N25K probably damaging Het
Vmn2r121 T A X: 124,129,905 H522L possibly damaging Het
Vmn2r15 T C 5: 109,293,227 Y255C 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
IGL02040:Exd1 APN 2 119540065 missense possibly damaging 0.79
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
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
R7684:Exd1 UTSW 2 119520203 missense probably damaging 1.00
R7921:Exd1 UTSW 2 119530099 missense probably damaging 0.99
R8029:Exd1 UTSW 2 119528723 missense probably damaging 1.00
R8428:Exd1 UTSW 2 119538867 missense possibly damaging 0.80
R8516:Exd1 UTSW 2 119520073 missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- ACGCTGATGTGTTATTTTCACTGACTCT -3'
(R):5'- AGCTTTCACAGTTTCTTGCAGTTTGG -3'

Sequencing Primer
(F):5'- tctgtttgcttctgtgtccc -3'
(R):5'- TCTTGCAGTTTGGAGGAAAATAG -3'
Posted On2014-03-14