Incidental Mutation 'R7027:Rtl1'
ID 546073
Institutional Source Beutler Lab
Gene Symbol Rtl1
Ensembl Gene ENSMUSG00000085925
Gene Name retrotransposon Gaglike 1
Synonyms Mart1, Mar, Mor1
MMRRC Submission 045128-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7027 (G1)
Quality Score 168.475
Status Validated
Chromosome 12
Chromosomal Location 109555627-109566764 bp(-) (GRCm39)
Type of Mutation small deletion (11 aa in frame mutation)
DNA Base Change (assembly) CTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTC to CTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTC at 109557848 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000149046]
AlphaFold Q7M732
Predicted Effect probably benign
Transcript: ENSMUST00000149046
SMART Domains Protein: ENSMUSP00000115957
Gene: ENSMUSG00000085925

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (85/87)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl A T 2: 127,852,003 (GRCm39) M102L probably benign Het
Adcy10 A G 1: 165,345,815 (GRCm39) E288G probably damaging Het
Agap1 A G 1: 89,816,444 (GRCm39) H748R probably benign Het
Ahsg T C 16: 22,711,007 (GRCm39) L48P probably damaging Het
Ankrd27 A G 7: 35,311,951 (GRCm39) T394A probably benign Het
Apc T G 18: 34,445,129 (GRCm39) V657G probably damaging Het
Arl2 T C 19: 6,191,119 (GRCm39) T5A probably benign Het
B020011L13Rik A G 1: 117,729,180 (GRCm39) Y229C probably benign Het
B3gnt5 T A 16: 19,588,740 (GRCm39) S320T probably damaging Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
BC107364 T G 3: 96,348,057 (GRCm39) R77S unknown Het
Brox G A 1: 183,065,750 (GRCm39) P206L possibly damaging Het
Ccrl2 T C 9: 110,884,953 (GRCm39) K182E probably benign Het
Cd19 A G 7: 126,009,671 (GRCm39) V465A possibly damaging Het
Chrdl2 A T 7: 99,671,240 (GRCm39) Q126H probably damaging Het
Cnbd1 G A 4: 18,862,063 (GRCm39) P376S probably benign Het
Cobll1 A G 2: 64,919,847 (GRCm39) S1194P probably benign Het
Col6a4 T C 9: 105,944,213 (GRCm39) Y1087C probably damaging Het
Col9a2 G A 4: 120,901,216 (GRCm39) probably null Het
Cyp4v3 A G 8: 45,763,289 (GRCm39) S341P possibly damaging Het
Dnah7a T A 1: 53,670,665 (GRCm39) Y529F probably benign Het
Eif3b C T 5: 140,411,043 (GRCm39) R165W probably damaging Het
Erlec1 C A 11: 30,900,790 (GRCm39) C126F probably damaging Het
Fads2b A G 2: 85,315,871 (GRCm39) Y440H probably damaging Het
Fat2 T C 11: 55,160,259 (GRCm39) T3285A probably benign Het
Fat2 G A 11: 55,172,677 (GRCm39) R2679* probably null Het
Fbxo31 T C 8: 122,305,224 (GRCm39) T91A probably damaging Het
Fkbp5 A G 17: 28,631,037 (GRCm39) Y243H probably damaging Het
Flcn C T 11: 59,686,632 (GRCm39) V374M probably damaging Het
Fndc5 A G 4: 129,033,316 (GRCm39) M128V probably benign Het
Gal3st1 A G 11: 3,949,002 (GRCm39) D403G probably damaging Het
Garem1 T C 18: 21,263,051 (GRCm39) N588D probably benign Het
Gas1 T C 13: 60,324,047 (GRCm39) T196A probably damaging Het
Gcn1 T C 5: 115,754,605 (GRCm39) probably null Het
Gprc5d T G 6: 135,093,646 (GRCm39) Q87P probably damaging Het
Grm1 A G 10: 10,595,339 (GRCm39) L763P probably damaging Het
Hivep2 G T 10: 14,025,321 (GRCm39) K2378N probably damaging Het
Hivep2 G T 10: 14,025,322 (GRCm39) D2379Y probably damaging Het
Itgad A G 7: 127,782,161 (GRCm39) Y199C probably damaging Het
Itm2c A G 1: 85,834,206 (GRCm39) I174V probably benign Het
Khdrbs2 A G 1: 32,453,997 (GRCm39) S128G probably benign Het
Map3k9 T C 12: 81,777,398 (GRCm39) T528A probably benign Het
Mmp11 G A 10: 75,768,230 (GRCm39) probably benign Het
Mycbpap T A 11: 94,405,440 (GRCm39) I30F probably damaging Het
Nfya T C 17: 48,696,340 (GRCm39) T335A probably benign Het
Npat T A 9: 53,481,216 (GRCm39) S1008T possibly damaging Het
Or10al5 G A 17: 38,063,300 (GRCm39) C185Y probably damaging Het
Or12e10 A G 2: 87,641,060 (GRCm39) T299A possibly damaging Het
Or5p69 A T 7: 107,967,557 (GRCm39) M287L probably damaging Het
Or6c219 C T 10: 129,781,041 (GRCm39) A297T possibly damaging Het
Osbpl10 T C 9: 115,052,766 (GRCm39) V613A probably damaging Het
Pcdhga8 T C 18: 37,860,164 (GRCm39) W407R probably benign Het
Pcdhgb4 A G 18: 37,854,415 (GRCm39) D270G probably damaging Het
Pde2a A C 7: 101,160,804 (GRCm39) E918D probably damaging Het
Plekhg5 A G 4: 152,198,431 (GRCm39) D873G probably benign Het
Pno1 A T 11: 17,158,880 (GRCm39) S173T possibly damaging Het
Ppfia3 A G 7: 45,004,160 (GRCm39) I494T possibly damaging Het
Prkrip1 C A 5: 136,210,267 (GRCm39) probably benign Het
Psma5 A G 3: 108,172,484 (GRCm39) I67V probably benign Het
Reep6 G A 10: 80,169,799 (GRCm39) probably null Het
Scyl2 C G 10: 89,481,323 (GRCm39) probably null Het
Sdk1 T A 5: 142,082,481 (GRCm39) probably null Het
Senp5 C A 16: 31,808,113 (GRCm39) K380N probably benign Het
Slc22a14 A T 9: 119,060,281 (GRCm39) probably null Het
Slc26a5 T A 5: 22,021,972 (GRCm39) T485S possibly damaging Het
Slc44a5 T C 3: 153,959,356 (GRCm39) I349T probably benign Het
Smarca5 T C 8: 81,463,355 (GRCm39) E71G probably benign Het
Smok2a A T 17: 13,444,666 (GRCm39) H81L probably damaging Het
Snrnp200 A G 2: 127,059,192 (GRCm39) D388G probably benign Het
Tank T C 2: 61,483,766 (GRCm39) V404A probably benign Het
Tek A G 4: 94,753,747 (GRCm39) D1063G probably damaging Het
Tfap2a C T 13: 40,887,150 (GRCm39) C16Y probably benign Het
Tmc1 A G 19: 20,918,267 (GRCm39) probably null Het
Tnc A G 4: 63,902,826 (GRCm39) F1484L probably benign Het
Tnfsf13 T A 11: 69,575,958 (GRCm39) probably null Het
Tnrc6c T A 11: 117,624,444 (GRCm39) S919T probably damaging Het
Trim17 C A 11: 58,859,442 (GRCm39) Q219K probably benign Het
Trim5 T A 7: 103,914,875 (GRCm39) H389L probably benign Het
Trio T A 15: 27,805,740 (GRCm39) M583L possibly damaging Het
Ttll10 A T 4: 156,120,258 (GRCm39) H389Q possibly damaging Het
Usp24 T C 4: 106,219,441 (GRCm39) S546P probably benign Het
Vmn1r19 T A 6: 57,381,475 (GRCm39) Y9* probably null Het
Vmn2r50 T A 7: 9,781,539 (GRCm39) D402V probably damaging Het
Vmn2r93 C A 17: 18,533,548 (GRCm39) A484E probably benign Het
Vps13a T C 19: 16,642,028 (GRCm39) T2200A probably benign Het
Wdr36 T A 18: 32,974,958 (GRCm39) H103Q probably benign Het
Zfp534 G A 4: 147,759,667 (GRCm39) T334I possibly damaging Het
Zfp804b C T 5: 6,820,372 (GRCm39) S897N probably benign 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
R1868:Rtl1 UTSW 12 109,556,970 (GRCm39) missense probably damaging 1.00
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
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'- AGTTTAGGACAACGGCCCG -3'
(R):5'- TGCTGCTTATGTCCATTAGGG -3'

Sequencing Primer
(F):5'- CCAGTAAGCCATTGAGGATATGGTC -3'
(R):5'- GTCCATTAGGGCAAATCTAAGGTAC -3'
Posted On 2019-05-13