Incidental Mutation 'R1868:Rtl1'
ID 208985
Institutional Source Beutler Lab
Gene Symbol Rtl1
Ensembl Gene ENSMUSG00000085925
Gene Name retrotransposon Gaglike 1
Synonyms Mart1, Mar, Mor1
MMRRC Submission 039890-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1868 (G1)
Quality Score 193
Status Validated
Chromosome 12
Chromosomal Location 109555627-109566764 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 109556970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 1623 (D1623V)
Ref Sequence ENSEMBL: ENSMUSP00000115957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000149046]
AlphaFold Q7M732
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083592
Predicted Effect noncoding transcript
Transcript: ENSMUST00000093564
Predicted Effect noncoding transcript
Transcript: ENSMUST00000093568
Predicted Effect noncoding transcript
Transcript: ENSMUST00000093572
Predicted Effect noncoding transcript
Transcript: ENSMUST00000093621
Predicted Effect noncoding transcript
Transcript: ENSMUST00000093625
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102167
Predicted Effect probably damaging
Transcript: ENSMUST00000149046
AA Change: D1623V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115957
Gene: ENSMUSG00000085925
AA Change: D1623V

DomainStartEndE-ValueType
low complexity region 19 30 N/A INTRINSIC
low complexity region 41 80 N/A INTRINSIC
internal_repeat_1 88 163 8.8e-50 PROSPERO
internal_repeat_1 176 251 8.8e-50 PROSPERO
low complexity region 332 361 N/A INTRINSIC
low complexity region 380 391 N/A INTRINSIC
low complexity region 393 408 N/A INTRINSIC
Pfam:DUF4939 432 538 1.6e-14 PFAM
Pfam:Retrotrans_gag 493 586 9.2e-13 PFAM
low complexity region 611 632 N/A INTRINSIC
Pfam:gag-asp_proteas 663 731 2.3e-15 PFAM
low complexity region 833 849 N/A INTRINSIC
low complexity region 878 892 N/A INTRINSIC
PDB:4OL8|E 988 1192 6e-17 PDB
Blast:CYCc 989 1158 5e-9 BLAST
SCOP:d1sig__ 1291 1443 2e-4 SMART
low complexity region 1733 1744 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157230
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200030
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199494
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102358
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175205
Meta Mutation Damage Score 0.1571 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
Validation Efficiency 97% (115/118)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a retrotransposon-derived, paternally expressed imprinted gene that is highly expressed at the late fetal stage in both the fetus and placenta. It has an overlapping maternally expressed antisense transcript, which contains several microRNAs targeting the transcripts of this gene through an RNA interference (RNAi) mechanism. This gene is essential for maintenance of the fetal capillaries. [provided by RefSeq, Jul 2009]
PHENOTYPE: Mice heterozygous for a paternally inherited knock-out allele exhibit fetal/neonatal lethality associated with underdevelopment of the placenta. Mice heteroygous for a maternally inherited knock-out allele exhibit neonatal lethality and decreased survival associated with placental overdevelopment. [provided by MGI curators]
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
D5Ertd579e G A 5: 36,773,771 (GRCm39) S208L probably 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
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 Rtl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00672:Rtl1 APN 12 109,559,434 (GRCm39) missense probably benign 0.00
IGL01981:Rtl1 APN 12 109,558,369 (GRCm39) missense possibly damaging 0.72
IGL02418:Rtl1 APN 12 109,556,883 (GRCm39) missense probably damaging 1.00
IGL03164:Rtl1 APN 12 109,559,367 (GRCm39) missense probably damaging 1.00
FR4304:Rtl1 UTSW 12 109,557,632 (GRCm39) small deletion probably benign
R0109:Rtl1 UTSW 12 109,561,841 (GRCm39) start gained probably benign
R0141:Rtl1 UTSW 12 109,559,382 (GRCm39) missense probably damaging 1.00
R0312:Rtl1 UTSW 12 109,556,661 (GRCm39) missense probably damaging 0.99
R0389:Rtl1 UTSW 12 109,556,797 (GRCm39) missense possibly damaging 0.77
R0390:Rtl1 UTSW 12 109,557,820 (GRCm39) missense unknown
R0548:Rtl1 UTSW 12 109,558,089 (GRCm39) missense probably damaging 0.98
R0561:Rtl1 UTSW 12 109,560,363 (GRCm39) missense probably damaging 0.99
R0624:Rtl1 UTSW 12 109,559,153 (GRCm39) missense probably damaging 0.97
R0746:Rtl1 UTSW 12 109,559,394 (GRCm39) missense probably damaging 1.00
R1353:Rtl1 UTSW 12 109,558,633 (GRCm39) missense probably benign 0.00
R1935:Rtl1 UTSW 12 109,558,354 (GRCm39) missense probably benign 0.42
R2000:Rtl1 UTSW 12 109,560,321 (GRCm39) missense probably damaging 1.00
R2094:Rtl1 UTSW 12 109,557,831 (GRCm39) missense unknown
R2125:Rtl1 UTSW 12 109,560,355 (GRCm39) missense possibly damaging 0.64
R2166:Rtl1 UTSW 12 109,556,988 (GRCm39) missense probably damaging 1.00
R2247:Rtl1 UTSW 12 109,561,413 (GRCm39) missense possibly damaging 0.77
R2274:Rtl1 UTSW 12 109,561,101 (GRCm39) missense unknown
R2919:Rtl1 UTSW 12 109,557,582 (GRCm39) missense unknown
R2998:Rtl1 UTSW 12 109,561,530 (GRCm39) missense probably damaging 0.99
R4554:Rtl1 UTSW 12 109,560,762 (GRCm39) missense possibly damaging 0.53
R4566:Rtl1 UTSW 12 109,559,293 (GRCm39) missense probably damaging 1.00
R4887:Rtl1 UTSW 12 109,558,138 (GRCm39) missense probably damaging 0.96
R5399:Rtl1 UTSW 12 109,556,736 (GRCm39) missense probably damaging 1.00
R5512:Rtl1 UTSW 12 109,557,805 (GRCm39) missense unknown
R5616:Rtl1 UTSW 12 109,559,173 (GRCm39) missense unknown
R5644:Rtl1 UTSW 12 109,558,013 (GRCm39) missense probably benign 0.03
R5647:Rtl1 UTSW 12 109,561,113 (GRCm39) missense unknown
R5695:Rtl1 UTSW 12 109,560,531 (GRCm39) missense probably damaging 1.00
R5714:Rtl1 UTSW 12 109,560,114 (GRCm39) missense probably damaging 0.99
R5786:Rtl1 UTSW 12 109,559,053 (GRCm39) missense possibly damaging 0.89
R5917:Rtl1 UTSW 12 109,558,087 (GRCm39) missense possibly damaging 0.82
R5948:Rtl1 UTSW 12 109,557,033 (GRCm39) missense possibly damaging 0.86
R6051:Rtl1 UTSW 12 109,559,458 (GRCm39) missense probably damaging 1.00
R6251:Rtl1 UTSW 12 109,560,083 (GRCm39) missense probably benign 0.16
R6342:Rtl1 UTSW 12 109,558,735 (GRCm39) missense possibly damaging 0.50
R6433:Rtl1 UTSW 12 109,561,630 (GRCm39) missense unknown
R6815:Rtl1 UTSW 12 109,560,937 (GRCm39) missense probably damaging 0.98
R6968:Rtl1 UTSW 12 109,561,113 (GRCm39) missense unknown
R7002:Rtl1 UTSW 12 109,560,381 (GRCm39) missense probably damaging 0.97
R7020:Rtl1 UTSW 12 109,558,749 (GRCm39) missense possibly damaging 0.72
R7026:Rtl1 UTSW 12 109,559,595 (GRCm39) missense probably damaging 0.99
R7027:Rtl1 UTSW 12 109,557,848 (GRCm39) small deletion probably benign
R7196:Rtl1 UTSW 12 109,559,221 (GRCm39) missense possibly damaging 0.83
R7239:Rtl1 UTSW 12 109,558,909 (GRCm39) missense probably benign 0.05
R7312:Rtl1 UTSW 12 109,561,672 (GRCm39) missense unknown
R7476:Rtl1 UTSW 12 109,557,539 (GRCm39) missense unknown
R7589:Rtl1 UTSW 12 109,560,279 (GRCm39) missense possibly damaging 0.91
R7655:Rtl1 UTSW 12 109,557,442 (GRCm39) missense unknown
R7656:Rtl1 UTSW 12 109,557,442 (GRCm39) missense unknown
R7657:Rtl1 UTSW 12 109,561,818 (GRCm39) missense possibly damaging 0.94
R7720:Rtl1 UTSW 12 109,560,864 (GRCm39) missense possibly damaging 0.96
R7772:Rtl1 UTSW 12 109,559,619 (GRCm39) missense probably damaging 1.00
R7840:Rtl1 UTSW 12 109,560,589 (GRCm39) missense probably benign 0.08
R7890:Rtl1 UTSW 12 109,559,251 (GRCm39) missense possibly damaging 0.57
R7893:Rtl1 UTSW 12 109,560,355 (GRCm39) missense possibly damaging 0.64
R7894:Rtl1 UTSW 12 109,561,031 (GRCm39) missense possibly damaging 0.70
R7909:Rtl1 UTSW 12 109,558,914 (GRCm39) missense possibly damaging 0.95
R7909:Rtl1 UTSW 12 109,556,611 (GRCm39) missense unknown
R7986:Rtl1 UTSW 12 109,558,492 (GRCm39) missense possibly damaging 0.95
R8007:Rtl1 UTSW 12 109,558,060 (GRCm39) missense possibly damaging 0.86
R8146:Rtl1 UTSW 12 109,557,145 (GRCm39) missense probably benign 0.01
R8193:Rtl1 UTSW 12 109,558,650 (GRCm39) missense probably benign 0.03
R8263:Rtl1 UTSW 12 109,560,180 (GRCm39) missense probably damaging 0.99
R8273:Rtl1 UTSW 12 109,559,149 (GRCm39) missense possibly damaging 0.92
R8512:Rtl1 UTSW 12 109,561,051 (GRCm39) missense unknown
R8514:Rtl1 UTSW 12 109,560,307 (GRCm39) missense possibly damaging 0.52
R8748:Rtl1 UTSW 12 109,561,492 (GRCm39) missense probably benign 0.39
R9036:Rtl1 UTSW 12 109,559,691 (GRCm39) missense probably benign 0.03
R9104:Rtl1 UTSW 12 109,560,718 (GRCm39) missense probably benign 0.21
R9151:Rtl1 UTSW 12 109,560,007 (GRCm39) missense
R9238:Rtl1 UTSW 12 109,561,017 (GRCm39) missense possibly damaging 0.72
R9292:Rtl1 UTSW 12 109,556,673 (GRCm39) missense possibly damaging 0.91
R9329:Rtl1 UTSW 12 109,556,673 (GRCm39) missense possibly damaging 0.91
R9332:Rtl1 UTSW 12 109,557,291 (GRCm39) missense probably benign 0.01
R9342:Rtl1 UTSW 12 109,558,884 (GRCm39) missense probably damaging 1.00
R9350:Rtl1 UTSW 12 109,557,226 (GRCm39) nonsense probably null
R9446:Rtl1 UTSW 12 109,556,604 (GRCm39) makesense probably null
R9523:Rtl1 UTSW 12 109,561,113 (GRCm39) missense unknown
R9524:Rtl1 UTSW 12 109,556,973 (GRCm39) missense probably damaging 1.00
R9535:Rtl1 UTSW 12 109,561,698 (GRCm39) missense unknown
R9535:Rtl1 UTSW 12 109,557,171 (GRCm39) missense probably damaging 1.00
R9564:Rtl1 UTSW 12 109,556,713 (GRCm39) missense probably benign 0.19
R9615:Rtl1 UTSW 12 109,556,835 (GRCm39) missense possibly damaging 0.65
R9661:Rtl1 UTSW 12 109,557,346 (GRCm39) missense possibly damaging 0.79
R9674:Rtl1 UTSW 12 109,559,024 (GRCm39) missense possibly damaging 0.50
R9720:Rtl1 UTSW 12 109,559,882 (GRCm39) missense possibly damaging 0.50
Z1088:Rtl1 UTSW 12 109,558,753 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TCTGGGTCCAAAAGATTTCGTG -3'
(R):5'- TCAGTTGCTCAGCCAGATG -3'

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