Incidental Mutation 'R6114:Endou'
ID 485041
Institutional Source Beutler Lab
Gene Symbol Endou
Ensembl Gene ENSMUSG00000022468
Gene Name endonuclease, polyU-specific
Synonyms Tcl-30, Pp11r
MMRRC Submission 044263-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6114 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 97608896-97629220 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 97611757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 294 (K294*)
Ref Sequence ENSEMBL: ENSMUSP00000097820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023105] [ENSMUST00000100249] [ENSMUST00000230430]
AlphaFold Q3V188
Predicted Effect probably null
Transcript: ENSMUST00000023105
AA Change: K336*
SMART Domains Protein: ENSMUSP00000023105
Gene: ENSMUSG00000022468
AA Change: K336*

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
SO 127 169 1.93e-11 SMART
Pfam:XendoU 181 448 1.4e-100 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000100249
AA Change: K294*
SMART Domains Protein: ENSMUSP00000097820
Gene: ENSMUSG00000022468
AA Change: K294*

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
SO 20 62 8.61e-9 SMART
SO 85 127 1.93e-11 SMART
Pfam:XendoU 136 407 2.8e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000230430
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 94% (60/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with protease activity and is expressed in the placenta. The protein may be useful as a tumor marker. Multiple alternatively spliced transcript variants have been found for this protein. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal splenic B cell numbers and activation-induced B cell apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 C A 14: 68,809,252 (GRCm39) V237L probably benign Het
Aff1 T C 5: 103,990,163 (GRCm39) S878P probably damaging Het
Ahcy A C 2: 154,904,079 (GRCm39) L386R probably damaging Het
Ank2 T C 3: 126,804,700 (GRCm39) N607D probably damaging Het
Arid5b T C 10: 67,933,574 (GRCm39) D776G possibly damaging Het
Art4 T A 6: 136,834,211 (GRCm39) T11S unknown Het
Blm T C 7: 80,163,235 (GRCm39) T39A probably damaging Het
Cabin1 T A 10: 75,583,805 (GRCm39) M221L probably benign Het
Cacna1c T C 6: 118,573,101 (GRCm39) T1675A probably benign Het
Cacnb2 A T 2: 14,980,012 (GRCm39) H285L possibly damaging Het
Cchcr1 A G 17: 35,836,227 (GRCm39) E339G probably damaging Het
Cd14 A G 18: 36,859,006 (GRCm39) W150R probably damaging Het
Cep162 A G 9: 87,085,763 (GRCm39) I1187T probably benign Het
Cntnap4 A G 8: 113,568,385 (GRCm39) H807R probably damaging Het
Copb1 T A 7: 113,846,036 (GRCm39) H178L probably benign Het
Cpxm2 A G 7: 131,756,035 (GRCm39) V103A probably benign Het
Egfr A G 11: 16,854,374 (GRCm39) T849A possibly damaging Het
Hoxd9 A G 2: 74,529,709 (GRCm39) N322D probably damaging Het
Hsph1 C A 5: 149,550,852 (GRCm39) V416L possibly damaging Het
Igkv4-78 T A 6: 69,036,743 (GRCm39) T97S possibly damaging Het
Itga10 G T 3: 96,556,351 (GRCm39) C162F probably damaging Het
Lmod2 A G 6: 24,603,691 (GRCm39) E222G probably damaging Het
Lpar5 A G 6: 125,058,639 (GRCm39) N120S probably damaging Het
Lrrc37 T A 11: 103,508,617 (GRCm39) probably benign Het
Lrrk2 A G 15: 91,632,029 (GRCm39) I1318V probably benign Het
Lst1 T C 17: 35,407,336 (GRCm39) T11A possibly damaging Het
Mfn1 C A 3: 32,617,985 (GRCm39) A106D probably damaging Het
Ms4a12 G T 19: 11,192,654 (GRCm39) N227K probably benign Het
Nr1h4 T A 10: 89,314,678 (GRCm39) N273Y possibly damaging Het
Nrdc A T 4: 108,901,782 (GRCm39) K617M probably damaging Het
Or10a3b A T 7: 108,444,593 (GRCm39) M208K possibly damaging Het
Or1l8 A T 2: 36,817,701 (GRCm39) C142S possibly damaging Het
Or6c202 T A 10: 128,996,202 (GRCm39) H217L probably benign Het
Pcdhgc3 C G 18: 37,940,925 (GRCm39) T442R probably benign Het
Pcnx2 T C 8: 126,500,686 (GRCm39) N1468S probably damaging Het
Pde2a A T 7: 101,160,319 (GRCm39) probably null Het
Pitx2 C G 3: 128,998,062 (GRCm39) probably null Het
Reck T A 4: 43,922,895 (GRCm39) I390N probably damaging Het
Rora A G 9: 69,278,605 (GRCm39) N254S probably benign Het
Samd4b A G 7: 28,222,217 (GRCm39) probably null Het
Scn8a A G 15: 100,938,477 (GRCm39) T1949A probably damaging Het
Slc22a15 A T 3: 101,768,168 (GRCm39) Y346* probably null Het
Slc24a5 A G 2: 124,925,012 (GRCm39) T218A probably benign Het
Slc38a10 G A 11: 120,020,138 (GRCm39) Q305* probably null Het
Slc45a4 G A 15: 73,477,453 (GRCm39) P28S probably damaging Het
Smyd5 A T 6: 85,417,244 (GRCm39) probably benign Het
Sox8 T C 17: 25,786,494 (GRCm39) D403G probably damaging Het
Stx7 A G 10: 24,060,883 (GRCm39) probably null Het
Svil T C 18: 5,108,639 (GRCm39) S1522P probably damaging Het
Sycp2 G C 2: 177,990,038 (GRCm39) R1403G probably benign Het
Tasor2 G A 13: 3,640,081 (GRCm39) T352M probably damaging Het
Tcf25 A T 8: 124,111,114 (GRCm39) K192M probably damaging Het
Tecpr1 C T 5: 144,141,458 (GRCm39) G804S possibly damaging Het
Teddm1a C G 1: 153,767,614 (GRCm39) S26C probably damaging Het
Usp13 C T 3: 32,908,818 (GRCm39) P155S probably damaging Het
Usp17lb T A 7: 104,489,571 (GRCm39) D451V possibly damaging Het
Vmn1r173 A G 7: 23,402,254 (GRCm39) N163S possibly damaging Het
Vmn2r103 G T 17: 20,032,587 (GRCm39) C787F probably damaging Het
Vmn2r106 G A 17: 20,488,638 (GRCm39) P587L probably benign Het
Wdr24 C T 17: 26,043,579 (GRCm39) H134Y probably benign Het
Zbtb40 T A 4: 136,716,002 (GRCm39) I988F probably damaging Het
Zbtb47 T A 9: 121,594,661 (GRCm39) F540Y probably damaging Het
Zfp536 A T 7: 37,179,161 (GRCm39) I84N probably damaging Het
Other mutations in Endou
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0364:Endou UTSW 15 97,616,854 (GRCm39) splice site probably benign
R1134:Endou UTSW 15 97,611,747 (GRCm39) missense probably damaging 1.00
R1418:Endou UTSW 15 97,616,854 (GRCm39) splice site probably benign
R1896:Endou UTSW 15 97,610,873 (GRCm39) missense probably damaging 1.00
R2960:Endou UTSW 15 97,611,687 (GRCm39) missense probably damaging 1.00
R4018:Endou UTSW 15 97,616,818 (GRCm39) missense probably damaging 0.99
R4618:Endou UTSW 15 97,611,763 (GRCm39) missense possibly damaging 0.67
R4754:Endou UTSW 15 97,624,420 (GRCm39) missense probably damaging 0.99
R4807:Endou UTSW 15 97,629,113 (GRCm39) missense probably benign 0.01
R4997:Endou UTSW 15 97,617,458 (GRCm39) missense probably damaging 1.00
R5321:Endou UTSW 15 97,618,913 (GRCm39) missense probably damaging 0.99
R5470:Endou UTSW 15 97,616,836 (GRCm39) missense probably damaging 1.00
R5604:Endou UTSW 15 97,618,800 (GRCm39) missense probably benign 0.00
R5764:Endou UTSW 15 97,612,488 (GRCm39) missense probably damaging 1.00
R6404:Endou UTSW 15 97,610,012 (GRCm39) missense probably damaging 1.00
R6528:Endou UTSW 15 97,617,510 (GRCm39) missense probably damaging 1.00
R7089:Endou UTSW 15 97,618,126 (GRCm39) missense probably benign 0.01
R7103:Endou UTSW 15 97,616,810 (GRCm39) missense probably damaging 1.00
R7382:Endou UTSW 15 97,616,807 (GRCm39) nonsense probably null
R7707:Endou UTSW 15 97,610,983 (GRCm39) critical splice acceptor site probably null
R7759:Endou UTSW 15 97,611,747 (GRCm39) missense probably damaging 1.00
R9294:Endou UTSW 15 97,609,946 (GRCm39) missense probably benign 0.29
R9300:Endou UTSW 15 97,610,954 (GRCm39) missense probably benign 0.03
R9544:Endou UTSW 15 97,609,969 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTCTCTAACAGATGAGGACGTG -3'
(R):5'- CATATGAGGGTGTCAGGCATG -3'

Sequencing Primer
(F):5'- GACGTGATGTCCCTATCCCCTG -3'
(R):5'- GCATGGTGCCAAGTAAACG -3'
Posted On 2017-08-16