Incidental Mutation 'R5644:Rtl1'
ID 440995
Institutional Source Beutler Lab
Gene Symbol Rtl1
Ensembl Gene ENSMUSG00000085925
Gene Name retrotransposon Gaglike 1
Synonyms Mart1, Mar, Mor1
MMRRC Submission 043292-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5644 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 109555627-109566764 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 109558013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 1275 (M1275I)
Ref Sequence ENSEMBL: ENSMUSP00000115957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000149046]
AlphaFold Q7M732
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 probably benign
Transcript: ENSMUST00000149046
AA Change: M1275I

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000115957
Gene: ENSMUSG00000085925
AA Change: M1275I

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: ENSMUST00000175205
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157230
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199494
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 A T 10: 14,308,678 (GRCm39) D805E probably damaging Het
Adrb2 A T 18: 62,311,753 (GRCm39) N357K probably benign Het
Ahnak A G 19: 8,988,021 (GRCm39) K3102E possibly damaging Het
Alkal2 T A 12: 30,934,889 (GRCm39) L36Q probably damaging Het
Alkbh8 G T 9: 3,385,384 (GRCm39) V559F probably damaging Het
Apba2 A G 7: 64,365,259 (GRCm39) T346A probably benign Het
Arhgap10 C T 8: 78,137,684 (GRCm39) M302I probably benign Het
Asah1 G T 8: 41,813,332 (GRCm39) T27K possibly damaging Het
Bag2 A G 1: 33,786,034 (GRCm39) V96A probably damaging Het
Bicd1 C T 6: 149,421,901 (GRCm39) A874V probably damaging Het
C4b T C 17: 34,961,391 (GRCm39) I189M probably benign Het
Cacna1a A G 8: 85,189,406 (GRCm39) Y119C probably damaging Het
Calcr A G 6: 3,708,538 (GRCm39) I216T probably damaging Het
Ccar1 T C 10: 62,607,757 (GRCm39) N302S probably benign Het
Ccdc93 A G 1: 121,411,065 (GRCm39) H446R probably benign Het
Cct6b A T 11: 82,613,281 (GRCm39) L420Q probably benign Het
Cemip T C 7: 83,638,392 (GRCm39) T273A probably benign Het
Cep128 A T 12: 91,315,625 (GRCm39) I87K probably damaging Het
Cfap221 A G 1: 119,860,532 (GRCm39) L698P probably damaging Het
Cfap43 T A 19: 47,784,114 (GRCm39) N473I possibly damaging Het
Clec12b T A 6: 129,356,923 (GRCm39) I172L probably benign Het
Cntnap5b A C 1: 100,311,326 (GRCm39) E606D probably benign Het
Cyp2c67 A C 19: 39,604,138 (GRCm39) V406G possibly damaging Het
Dhx57 T C 17: 80,546,302 (GRCm39) I1308V possibly damaging Het
Dnah7a A T 1: 53,580,138 (GRCm39) M1599K probably benign Het
Dnajc21 A T 15: 10,462,001 (GRCm39) D133E probably benign Het
Dpp8 G A 9: 64,953,017 (GRCm39) W231* probably null Het
Dvl3 T A 16: 20,345,026 (GRCm39) I353N probably damaging Het
Fgd6 T A 10: 93,969,912 (GRCm39) I1187N possibly damaging Het
Fn1 A T 1: 71,666,409 (GRCm39) Y875N probably damaging Het
Gaa T A 11: 119,171,361 (GRCm39) M671K possibly damaging Het
Gm11939 T C 11: 99,450,138 (GRCm39) D52G probably damaging Het
Gm14403 A T 2: 177,199,054 (GRCm39) H50L possibly damaging Het
Gpam A T 19: 55,077,331 (GRCm39) D153E probably benign Het
Gzma T C 13: 113,234,794 (GRCm39) T66A probably damaging Het
Hnmt A T 2: 23,904,251 (GRCm39) W137R probably damaging Het
Hsd17b7 A T 1: 169,783,517 (GRCm39) V297D probably damaging Het
Ighv1-85 A T 12: 115,963,680 (GRCm39) S107T possibly damaging Het
Kif12 T A 4: 63,084,130 (GRCm39) Q624L possibly damaging Het
Kif1b T C 4: 149,322,939 (GRCm39) D660G probably damaging Het
Klf13 T C 7: 63,541,308 (GRCm39) probably benign Het
Klhl41 A G 2: 69,500,815 (GRCm39) Y92C probably damaging Het
Klrc2 A T 6: 129,633,420 (GRCm39) C186S probably damaging Het
Lao1 T A 4: 118,822,433 (GRCm39) probably null Het
Lmo7 A G 14: 102,166,772 (GRCm39) probably benign Het
Lyst A T 13: 13,812,081 (GRCm39) Q831L possibly damaging Het
Lzts1 A G 8: 69,591,729 (GRCm39) S140P possibly damaging Het
Man2b1 T A 8: 85,820,839 (GRCm39) I679N possibly damaging Het
Mgat5b T A 11: 116,864,226 (GRCm39) V464E probably damaging Het
Mrgprb5 G A 7: 47,817,955 (GRCm39) T260I probably benign Het
Mybpc2 T C 7: 44,156,477 (GRCm39) T825A probably benign Het
Mycbp2 T A 14: 103,524,770 (GRCm39) K597I probably damaging Het
Naalad2 G T 9: 18,246,227 (GRCm39) N568K possibly damaging Het
Neurl1a A G 19: 47,167,916 (GRCm39) N4S probably benign Het
Nfx1 T C 4: 40,984,973 (GRCm39) W366R probably null Het
Nipbl C T 15: 8,388,391 (GRCm39) V410I probably benign Het
Nlrp9a A T 7: 26,257,993 (GRCm39) H537L possibly damaging Het
Nxpe4 A G 9: 48,304,050 (GRCm39) N46D probably benign Het
Or14j10 T A 17: 37,935,323 (GRCm39) I68F probably benign Het
Or4c101 T A 2: 88,389,849 (GRCm39) M1K probably null Het
Or4f60 A T 2: 111,902,013 (GRCm39) M305K probably benign Het
Or5ae1 C A 7: 84,565,327 (GRCm39) F113L probably benign Het
Or5b95 A T 19: 12,658,336 (GRCm39) Y288F probably damaging Het
Or5p58 A T 7: 107,694,011 (GRCm39) Y255* probably null Het
Or5p60 A G 7: 107,723,858 (GRCm39) F204S probably benign Het
Or6c2 A T 10: 129,362,972 (GRCm39) N292I probably damaging Het
Or6c76b T A 10: 129,693,296 (GRCm39) V303E probably benign Het
Or8u10 T C 2: 85,915,503 (GRCm39) N206S probably damaging Het
P2ry12 A T 3: 59,125,516 (GRCm39) M53K possibly damaging Het
Pcca G A 14: 123,124,481 (GRCm39) C684Y probably damaging Het
Pdzd7 A G 19: 45,028,619 (GRCm39) S175P probably benign Het
Pgbd1 A G 13: 21,607,322 (GRCm39) C291R probably damaging Het
Plekhg5 T C 4: 152,188,797 (GRCm39) V200A probably benign Het
Pola2 A G 19: 6,011,198 (GRCm39) V42A probably benign Het
Pramel16 C T 4: 143,675,374 (GRCm39) G484D probably benign Het
Prkcd C A 14: 30,329,370 (GRCm39) K23N probably benign Het
Ptdss1 T C 13: 67,120,604 (GRCm39) F267L probably damaging Het
Rad54l C T 4: 115,956,144 (GRCm39) S561N probably benign Het
Rai14 T A 15: 10,593,137 (GRCm39) H169L probably benign Het
Rfc3 C T 5: 151,573,444 (GRCm39) V40I probably benign Het
Rpl31 C T 1: 39,409,108 (GRCm39) R41C probably benign Het
Ryr2 C A 13: 11,610,468 (GRCm39) E4119D probably damaging Het
Senp7 T C 16: 56,004,512 (GRCm39) silent Het
Sfmbt2 A T 2: 10,573,184 (GRCm39) I571F probably damaging Het
Sit1 T A 4: 43,483,562 (GRCm39) T8S probably benign Het
Slc22a30 T C 19: 8,381,980 (GRCm39) H97R possibly damaging Het
Slco1a5 A C 6: 142,183,320 (GRCm39) probably null Het
Smc6 T A 12: 11,339,995 (GRCm39) N434K probably benign Het
Snap91 G T 9: 86,672,206 (GRCm39) probably null Het
Srsf10 T C 4: 135,591,131 (GRCm39) S194P possibly damaging Het
St14 T C 9: 31,017,806 (GRCm39) M205V probably benign Het
Syndig1 A T 2: 149,741,428 (GRCm39) I5F possibly damaging Het
Tbrg1 T C 9: 37,560,709 (GRCm39) D389G probably benign Het
Tcaf2 G A 6: 42,619,707 (GRCm39) R107C possibly damaging Het
Tpmt T A 13: 47,182,435 (GRCm39) D163V probably benign Het
Trim15 T C 17: 37,177,713 (GRCm39) E94G probably damaging Het
Trit1 T C 4: 122,942,965 (GRCm39) I279T probably damaging Het
Trpm8 T A 1: 88,287,461 (GRCm39) F815I possibly damaging Het
Ttn T A 2: 76,768,867 (GRCm39) T2856S probably damaging Het
Ugdh A T 5: 65,574,204 (GRCm39) D446E probably benign Het
Unc5c C T 3: 141,383,886 (GRCm39) A88V probably damaging Het
Vmn1r43 T C 6: 89,847,354 (GRCm39) N44S probably damaging Het
Vmn2r120 T A 17: 57,831,977 (GRCm39) M271L probably benign Het
Wdr74 T A 19: 8,715,240 (GRCm39) V133E probably damaging Het
Zfp607b T C 7: 27,403,194 (GRCm39) L550P probably 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
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
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
Posted On 2016-11-08