Incidental Mutation 'R1868:D5Ertd579e'
ID 208929
Institutional Source Beutler Lab
Gene Symbol D5Ertd579e
Ensembl Gene ENSMUSG00000029190
Gene Name DNA segment, Chr 5, ERATO Doi 579, expressed
Synonyms 9030221A05Rik, A930018H20Rik
MMRRC Submission 039890-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.317) question?
Stock # R1868 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 36757829-36853368 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 36773771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 208 (S208L)
Ref Sequence ENSEMBL: ENSMUSP00000031091 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031091]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000031091
AA Change: S208L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
AA Change: S208L

DomainStartEndE-ValueType
Pfam:DUF4603 23 1303 N/A PFAM
low complexity region 1365 1376 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132383
SMART Domains Protein: ENSMUSP00000116548
Gene: ENSMUSG00000029190

DomainStartEndE-ValueType
Pfam:DUF4603 1 1181 N/A PFAM
low complexity region 1243 1254 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140063
SMART Domains Protein: ENSMUSP00000118804
Gene: ENSMUSG00000029190

DomainStartEndE-ValueType
Pfam:DUF4603 23 77 1e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150088
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174019
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201187
Meta Mutation Damage Score 0.1198 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
Validation Efficiency 97% (115/118)
Allele List at MGI
Other mutations in this stock
Total: 115 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik A T 5: 66,157,560 (GRCm39) M1K probably null Het
A630073D07Rik C T 6: 132,603,457 (GRCm39) E100K unknown Het
Abcc3 T G 11: 94,254,889 (GRCm39) D638A probably benign Het
Acadm T C 3: 153,635,889 (GRCm39) I272V probably benign Het
Adam2 G A 14: 66,315,107 (GRCm39) T22I probably damaging Het
Aldh3b1 G A 19: 3,971,271 (GRCm39) probably benign Het
Arfgef3 A T 10: 18,537,135 (GRCm39) I182K probably benign Het
Arhgef17 A G 7: 100,528,184 (GRCm39) S677P probably benign Het
Atp2b1 T C 10: 98,832,750 (GRCm39) V417A probably damaging Het
Brca1 T A 11: 101,388,839 (GRCm39) H1675L probably benign Het
Brd10 A T 19: 29,720,998 (GRCm39) S743T probably damaging Het
Btd G T 14: 31,389,266 (GRCm39) G329V probably benign Het
Capsl T A 15: 9,461,916 (GRCm39) L104* probably null Het
Cbx1 T C 11: 96,693,554 (GRCm39) S107P probably benign Het
Cd207 G T 6: 83,648,683 (GRCm39) Y326* probably null Het
Cenpp T C 13: 49,794,759 (GRCm39) D136G probably damaging Het
Chsy3 A G 18: 59,309,560 (GRCm39) probably null Het
Cntrl T A 2: 35,019,827 (GRCm39) H551Q probably benign Het
Col14a1 T A 15: 55,310,858 (GRCm39) probably benign Het
Cybrd1 T A 2: 70,967,978 (GRCm39) F183Y possibly damaging Het
Dlg2 A T 7: 92,036,160 (GRCm39) K719* probably null Het
Dppa1 A T 11: 46,516,393 (GRCm39) probably null Het
Dse A G 10: 34,029,284 (GRCm39) V602A possibly damaging Het
Elapor2 T A 5: 9,529,251 (GRCm39) I1028K probably damaging Het
Elmo1 C T 13: 20,773,823 (GRCm39) A611V possibly damaging Het
Ets2 T C 16: 95,516,118 (GRCm39) S233P probably benign Het
Fchsd2 G A 7: 100,899,645 (GRCm39) probably benign Het
Fhip2a T C 19: 57,374,737 (GRCm39) I704T possibly damaging Het
Fkbp4 T C 6: 128,409,453 (GRCm39) R402G probably benign Het
G2e3 T A 12: 51,400,412 (GRCm39) D21E probably benign Het
Gask1a A G 9: 121,794,493 (GRCm39) T216A possibly damaging Het
Gck A T 11: 5,852,165 (GRCm39) N391K probably damaging Het
Gm11077 T A 6: 140,675,017 (GRCm39) I3N unknown Het
Gm6793 T C 8: 112,741,088 (GRCm39) M185V probably benign Het
Gucy2d T A 7: 98,103,268 (GRCm39) L504H probably damaging Het
Hat1 T A 2: 71,251,627 (GRCm39) Y225* probably null Het
Iars2 A T 1: 185,050,765 (GRCm39) D441E probably benign Het
Ido2 C A 8: 25,043,776 (GRCm39) M92I possibly damaging Het
Ifne T C 4: 88,797,908 (GRCm39) E170G probably damaging Het
Ints8 C A 4: 11,241,684 (GRCm39) C253F probably damaging Het
Intu G T 3: 40,618,765 (GRCm39) G257V probably damaging Het
Jakmip3 A G 7: 138,609,316 (GRCm39) K140R probably benign Het
Kcnip3 T C 2: 127,301,263 (GRCm39) E237G probably damaging Het
Ksr2 A C 5: 117,643,594 (GRCm39) E121A probably benign Het
Lars1 T A 18: 42,347,902 (GRCm39) I974F probably benign Het
Lce1b A G 3: 92,563,318 (GRCm39) S72P unknown Het
Lhfpl4 T A 6: 113,153,394 (GRCm39) D125V probably benign Het
Luc7l G A 17: 26,499,030 (GRCm39) probably benign Het
Mei1 T C 15: 82,009,154 (GRCm39) L833P probably damaging Het
Mier2 A G 10: 79,384,664 (GRCm39) V150A probably damaging Het
Muc4 C T 16: 32,576,715 (GRCm39) R2072C unknown Het
Myh3 A G 11: 66,975,852 (GRCm39) K295E probably benign Het
Ndufaf5 A G 2: 140,023,509 (GRCm39) I115V probably benign Het
Neb T C 2: 52,216,756 (GRCm39) K140E probably damaging Het
Niban1 A G 1: 151,517,302 (GRCm39) S104G possibly damaging Het
Npas2 A G 1: 39,339,759 (GRCm39) D103G probably benign Het
Ntrk3 A T 7: 77,842,352 (GRCm39) H825Q possibly damaging Het
Nup62 T A 7: 44,478,472 (GRCm39) S162R possibly damaging Het
Or4c108 T C 2: 88,804,128 (GRCm39) T36A possibly damaging Het
Or5g23 T A 2: 85,438,409 (GRCm39) I282F probably damaging Het
Or5t7 G A 2: 86,507,629 (GRCm39) T16I possibly damaging Het
Or8c8 A G 9: 38,164,986 (GRCm39) E91G probably damaging Het
Orc4 A G 2: 48,800,305 (GRCm39) M281T probably benign Het
Osbpl5 C A 7: 143,269,510 (GRCm39) R22L probably damaging Het
Otos A G 1: 92,572,185 (GRCm39) F47S probably damaging Het
Parp11 A G 6: 127,447,740 (GRCm39) T25A probably damaging Het
Pcdhb9 A C 18: 37,535,137 (GRCm39) D377A probably damaging Het
Pdgfra C T 5: 75,331,534 (GRCm39) S348L probably benign Het
Pdlim5 C A 3: 142,012,060 (GRCm39) probably null Het
Peg12 T C 7: 62,113,416 (GRCm39) H227R probably benign Het
Piezo2 T C 18: 63,152,415 (GRCm39) E2559G probably damaging Het
Pnisr C T 4: 21,874,086 (GRCm39) probably benign Het
Ppa2 A T 3: 133,053,858 (GRCm39) I183F probably damaging Het
Pramel48 T A 5: 95,630,758 (GRCm39) Y212N probably benign Het
Prl2a1 T C 13: 27,988,923 (GRCm39) L16P probably damaging Het
Rai14 C A 15: 10,633,314 (GRCm39) Q25H probably damaging Het
Rapgef6 TG TGG 11: 54,437,223 (GRCm39) probably null Het
Rbm34 C A 8: 127,697,631 (GRCm39) A27S probably benign Het
Rchy1 T C 5: 92,099,762 (GRCm39) D192G probably damaging Het
Rexo1 T C 10: 80,378,754 (GRCm39) D1094G probably damaging Het
Rtl1 T A 12: 109,556,970 (GRCm39) D1623V probably damaging Het
Ryr2 C T 13: 11,746,586 (GRCm39) E1989K probably benign Het
Sema6c A G 3: 95,078,124 (GRCm39) E500G probably damaging Het
Slc13a1 T A 6: 24,117,999 (GRCm39) Y246F probably damaging Het
Slc39a9 C T 12: 80,726,297 (GRCm39) L249F probably damaging Het
Slc6a21 C T 7: 44,937,252 (GRCm39) P261S probably benign Het
Slco2b1 C T 7: 99,335,243 (GRCm39) C179Y probably damaging Het
Sox6 T C 7: 115,258,773 (GRCm39) N252S possibly damaging Het
Spr-ps1 C T 6: 85,132,885 (GRCm39) noncoding transcript Het
Sptbn1 C A 11: 30,064,781 (GRCm39) R1906L possibly damaging Het
Stac2 T C 11: 97,943,771 (GRCm39) D13G probably benign Het
Stat5a G T 11: 100,764,955 (GRCm39) R226L probably damaging Het
Suz12 A G 11: 79,904,425 (GRCm39) probably null Het
Tas2r144 C A 6: 42,192,936 (GRCm39) H225Q probably benign Het
Tdo2 T A 3: 81,867,853 (GRCm39) M331L probably benign Het
Tesk1 T C 4: 43,447,201 (GRCm39) W530R probably damaging Het
Tlr6 T C 5: 65,112,172 (GRCm39) N245S probably benign Het
Tnfrsf11a G T 1: 105,772,431 (GRCm39) A573S probably damaging Het
Tpbpb A T 13: 61,050,344 (GRCm39) probably benign Het
Trim24 T A 6: 37,928,447 (GRCm39) S590T probably damaging Het
Ttll3 G T 6: 113,369,725 (GRCm39) A90S possibly damaging Het
Ubr5 A T 15: 38,042,090 (GRCm39) S169T probably benign Het
Usp28 T C 9: 48,928,007 (GRCm39) V363A probably damaging Het
Vcan A G 13: 89,838,990 (GRCm39) S2185P probably benign Het
Vmn1r211 T C 13: 23,035,779 (GRCm39) H296R probably benign Het
Vmn2r3 G A 3: 64,166,537 (GRCm39) P865S probably damaging Het
Wapl A G 14: 34,414,415 (GRCm39) T426A probably benign Het
Wdr37 G T 13: 8,886,887 (GRCm39) T300K probably damaging Het
Wrap53 A T 11: 69,452,990 (GRCm39) V439E probably null Het
Wrn A G 8: 33,747,249 (GRCm39) S868P probably benign Het
Zfhx4 A G 3: 5,477,774 (GRCm39) E3463G probably damaging Het
Zfp189 T A 4: 49,529,283 (GRCm39) C129S possibly damaging Het
Zfp442 T C 2: 150,250,100 (GRCm39) K544E probably damaging Het
Zfp939 T A 7: 39,122,728 (GRCm39) noncoding transcript Het
Zfyve26 T C 12: 79,308,573 (GRCm39) H228R possibly damaging Het
Other mutations in D5Ertd579e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01433:D5Ertd579e APN 5 36,776,098 (GRCm39) missense probably damaging 0.99
IGL01925:D5Ertd579e APN 5 36,771,628 (GRCm39) missense possibly damaging 0.67
IGL01933:D5Ertd579e APN 5 36,773,100 (GRCm39) missense probably benign
IGL02164:D5Ertd579e APN 5 36,772,303 (GRCm39) missense probably damaging 1.00
IGL02399:D5Ertd579e APN 5 36,773,529 (GRCm39) missense probably damaging 1.00
IGL02896:D5Ertd579e APN 5 36,771,326 (GRCm39) missense possibly damaging 0.70
IGL03141:D5Ertd579e APN 5 36,770,621 (GRCm39) missense possibly damaging 0.94
IGL03235:D5Ertd579e APN 5 36,776,172 (GRCm39) splice site probably benign
R0201:D5Ertd579e UTSW 5 36,773,809 (GRCm39) missense probably damaging 1.00
R0377:D5Ertd579e UTSW 5 36,761,911 (GRCm39) missense probably benign 0.12
R0830:D5Ertd579e UTSW 5 36,771,101 (GRCm39) missense probably damaging 1.00
R0926:D5Ertd579e UTSW 5 36,830,210 (GRCm39) missense probably damaging 1.00
R1350:D5Ertd579e UTSW 5 36,771,081 (GRCm39) missense probably damaging 1.00
R1448:D5Ertd579e UTSW 5 36,760,083 (GRCm39) missense probably benign
R1672:D5Ertd579e UTSW 5 36,770,621 (GRCm39) missense possibly damaging 0.50
R1676:D5Ertd579e UTSW 5 36,773,453 (GRCm39) missense probably benign 0.01
R1693:D5Ertd579e UTSW 5 36,771,441 (GRCm39) missense probably damaging 0.98
R1698:D5Ertd579e UTSW 5 36,761,874 (GRCm39) missense probably benign
R1909:D5Ertd579e UTSW 5 36,771,402 (GRCm39) missense probably benign 0.21
R2034:D5Ertd579e UTSW 5 36,770,882 (GRCm39) nonsense probably null
R2080:D5Ertd579e UTSW 5 36,773,550 (GRCm39) missense probably benign 0.01
R2105:D5Ertd579e UTSW 5 36,770,793 (GRCm39) missense probably benign 0.12
R2197:D5Ertd579e UTSW 5 36,772,137 (GRCm39) missense possibly damaging 0.69
R4212:D5Ertd579e UTSW 5 36,771,823 (GRCm39) missense probably damaging 0.99
R4452:D5Ertd579e UTSW 5 36,773,814 (GRCm39) missense probably damaging 1.00
R4626:D5Ertd579e UTSW 5 36,771,903 (GRCm39) missense possibly damaging 0.92
R4804:D5Ertd579e UTSW 5 36,786,996 (GRCm39) splice site probably null
R4898:D5Ertd579e UTSW 5 36,772,285 (GRCm39) missense probably damaging 0.99
R4917:D5Ertd579e UTSW 5 36,773,160 (GRCm39) missense probably damaging 1.00
R4960:D5Ertd579e UTSW 5 36,773,571 (GRCm39) nonsense probably null
R4973:D5Ertd579e UTSW 5 36,830,249 (GRCm39) missense probably benign
R5092:D5Ertd579e UTSW 5 36,760,047 (GRCm39) missense probably benign 0.18
R5474:D5Ertd579e UTSW 5 36,772,601 (GRCm39) missense probably damaging 1.00
R5475:D5Ertd579e UTSW 5 36,772,601 (GRCm39) missense probably damaging 1.00
R5476:D5Ertd579e UTSW 5 36,772,601 (GRCm39) missense probably damaging 1.00
R5477:D5Ertd579e UTSW 5 36,772,601 (GRCm39) missense probably damaging 1.00
R5801:D5Ertd579e UTSW 5 36,761,913 (GRCm39) missense probably damaging 1.00
R6019:D5Ertd579e UTSW 5 36,787,036 (GRCm39) missense possibly damaging 0.90
R6184:D5Ertd579e UTSW 5 36,787,127 (GRCm39) missense probably damaging 0.99
R6213:D5Ertd579e UTSW 5 36,759,978 (GRCm39) missense probably damaging 1.00
R6244:D5Ertd579e UTSW 5 36,772,620 (GRCm39) missense probably damaging 0.98
R6276:D5Ertd579e UTSW 5 36,761,858 (GRCm39) missense possibly damaging 0.66
R6285:D5Ertd579e UTSW 5 36,772,921 (GRCm39) missense probably damaging 1.00
R6358:D5Ertd579e UTSW 5 36,773,580 (GRCm39) splice site probably null
R6875:D5Ertd579e UTSW 5 36,762,001 (GRCm39) splice site probably null
R6967:D5Ertd579e UTSW 5 36,773,100 (GRCm39) missense probably benign
R7139:D5Ertd579e UTSW 5 36,771,320 (GRCm39) missense probably damaging 1.00
R7329:D5Ertd579e UTSW 5 36,773,739 (GRCm39) missense probably benign 0.21
R7464:D5Ertd579e UTSW 5 36,771,129 (GRCm39) missense probably damaging 0.99
R7664:D5Ertd579e UTSW 5 36,771,961 (GRCm39) missense probably benign 0.00
R7762:D5Ertd579e UTSW 5 36,770,725 (GRCm39) missense
R7951:D5Ertd579e UTSW 5 36,772,517 (GRCm39) missense probably benign
R8175:D5Ertd579e UTSW 5 36,772,814 (GRCm39) missense probably damaging 1.00
R8217:D5Ertd579e UTSW 5 36,771,402 (GRCm39) missense probably benign 0.00
R8233:D5Ertd579e UTSW 5 36,772,588 (GRCm39) missense probably damaging 0.99
R8281:D5Ertd579e UTSW 5 36,770,664 (GRCm39) missense
R8398:D5Ertd579e UTSW 5 36,771,621 (GRCm39) nonsense probably null
R8673:D5Ertd579e UTSW 5 36,830,151 (GRCm39) missense probably benign 0.03
R8771:D5Ertd579e UTSW 5 36,761,940 (GRCm39) missense probably damaging 1.00
R8853:D5Ertd579e UTSW 5 36,787,024 (GRCm39) missense probably damaging 0.99
R9106:D5Ertd579e UTSW 5 36,773,682 (GRCm39) missense probably benign 0.39
R9121:D5Ertd579e UTSW 5 36,772,778 (GRCm39) missense probably damaging 1.00
R9413:D5Ertd579e UTSW 5 36,772,278 (GRCm39) missense probably damaging 1.00
R9569:D5Ertd579e UTSW 5 36,759,979 (GRCm39) missense probably damaging 0.97
R9715:D5Ertd579e UTSW 5 36,787,029 (GRCm39) missense possibly damaging 0.94
R9723:D5Ertd579e UTSW 5 36,772,284 (GRCm39) missense probably damaging 0.99
RF022:D5Ertd579e UTSW 5 36,772,006 (GRCm39) missense probably damaging 1.00
X0019:D5Ertd579e UTSW 5 36,771,302 (GRCm39) missense probably damaging 1.00
Z1176:D5Ertd579e UTSW 5 36,773,106 (GRCm39) missense probably benign 0.00
Z1189:D5Ertd579e UTSW 5 36,772,250 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCGATGGTGCTACTGCTCAG -3'
(R):5'- CAAATTCTTGCTTCCTTGATGGTG -3'

Sequencing Primer
(F):5'- GGTGCTACTGCTCAGCTTGC -3'
(R):5'- CATTAGTGAGCTAAGGCACTGC -3'
Posted On 2014-06-30