Incidental Mutation 'R5512:Rtl1'
ID 440125
Institutional Source Beutler Lab
Gene Symbol Rtl1
Ensembl Gene ENSMUSG00000085925
Gene Name retrotransposon Gaglike 1
Synonyms Mart1, Mar, Mor1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5512 (G1)
Quality Score 84
Status Not validated
Chromosome 12
Chromosomal Location 109555627-109566764 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 109557805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 1345 (E1345K)
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 noncoding transcript
Transcript: ENSMUST00000102358
Predicted Effect unknown
Transcript: ENSMUST00000149046
AA Change: E1345K
SMART Domains Protein: ENSMUSP00000115957
Gene: ENSMUSG00000085925
AA Change: E1345K

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: ENSMUST00000199494
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157230
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik A G 7: 130,952,389 (GRCm39) V364A possibly damaging Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Adgre5 T C 8: 84,455,715 (GRCm39) N198D probably benign Het
Adgrf4 G T 17: 42,978,176 (GRCm39) T389K probably benign Het
Apc T A 18: 34,443,962 (GRCm39) probably benign Het
Appl2 T A 10: 83,441,682 (GRCm39) I524F probably damaging Het
Arhgef37 G A 18: 61,632,845 (GRCm39) Q531* probably null Het
Atp7b T C 8: 22,502,755 (GRCm39) T694A probably benign Het
Cacna1g T A 11: 94,334,968 (GRCm39) I780F probably damaging Het
Calcoco2 T C 11: 95,994,162 (GRCm39) K95E probably damaging Het
Cars1 T C 7: 143,123,870 (GRCm39) D388G possibly damaging Het
Ccdc150 A C 1: 54,393,806 (GRCm39) E690A probably damaging Het
Cdc73 G T 1: 143,578,354 (GRCm39) D3E probably damaging Het
Cdh23 C A 10: 60,370,165 (GRCm39) probably null Het
Cep170b T C 12: 112,699,919 (GRCm39) S143P possibly damaging Het
Cherp T C 8: 73,217,110 (GRCm39) I607V possibly damaging Het
CN725425 T A 15: 91,124,959 (GRCm39) H166Q probably benign Het
Dcaf6 A G 1: 165,227,404 (GRCm39) V241A possibly damaging Het
Dot1l C T 10: 80,624,825 (GRCm39) P881S possibly damaging Het
Drgx A G 14: 32,322,001 (GRCm39) H5R probably damaging Het
Dsg1c A T 18: 20,405,568 (GRCm39) N327I probably damaging Het
Fbxw7 G A 3: 84,862,216 (GRCm39) R182H probably damaging Het
Fkbp1b A T 12: 4,888,183 (GRCm39) V24E probably benign Het
Fut11 T C 14: 20,746,069 (GRCm39) S304P probably damaging Het
Ggt1 C T 10: 75,420,718 (GRCm39) T361I probably damaging Het
Gimap7 G T 6: 48,700,530 (GRCm39) A39S probably benign Het
Gm12689 T C 4: 99,184,402 (GRCm39) I85T unknown Het
Gm17541 G T 12: 4,739,452 (GRCm39) probably benign Het
Gmip T A 8: 70,270,540 (GRCm39) V750E probably benign Het
Gna14 A G 19: 16,585,492 (GRCm39) E290G probably benign Het
Gpnmb T C 6: 49,022,398 (GRCm39) V176A possibly damaging Het
Hhla1 T C 15: 65,795,865 (GRCm39) K447R probably benign Het
Hsd3b1 A G 3: 98,760,521 (GRCm39) Y157H probably benign Het
Iqgap2 G A 13: 95,811,884 (GRCm39) Q706* probably null Het
Krt222 A C 11: 99,125,781 (GRCm39) S283R probably damaging Het
Ldb2 G A 5: 44,637,586 (GRCm39) R241W probably damaging Het
Lrrc8d G A 5: 105,960,651 (GRCm39) E354K probably benign Het
Lrrc8d C G 5: 105,960,650 (GRCm39) F353L probably damaging Het
Masp2 A T 4: 148,698,526 (GRCm39) I536F probably damaging Het
Mptx1 A G 1: 174,160,315 (GRCm39) D207G probably benign Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Napsa A G 7: 44,222,040 (GRCm39) M1V probably null Het
Ncam1 A T 9: 49,420,999 (GRCm39) probably null Het
Nckap5 G A 1: 125,955,481 (GRCm39) P425L possibly damaging Het
Nol8 A G 13: 49,830,263 (GRCm39) S1116G probably benign Het
Nrde2 G T 12: 100,108,509 (GRCm39) Q361K probably benign Het
Nudt13 G A 14: 20,357,800 (GRCm39) G133D probably damaging Het
Ofcc1 G T 13: 40,360,286 (GRCm39) Q248K probably benign Het
Olfm4 A G 14: 80,258,787 (GRCm39) D345G probably benign Het
Or2t6 C A 14: 14,175,633 (GRCm38) G150C probably damaging Het
Or4k41 G A 2: 111,280,099 (GRCm39) V205I probably benign Het
Osbpl3 T G 6: 50,286,340 (GRCm39) K659N probably damaging Het
Pdk2 G A 11: 94,930,292 (GRCm39) T48M probably damaging Het
Phf11a A T 14: 59,524,999 (GRCm39) D68E probably benign Het
Purb A G 11: 6,425,702 (GRCm39) V62A probably damaging Het
Rabep2 A G 7: 126,037,971 (GRCm39) T248A possibly damaging Het
Rps19bp1 CCTTCTTCTTCTTCTTCTTCTT CCTTCTTCTTCTTCTTCTT 15: 80,145,250 (GRCm39) probably benign Het
Sema3e G A 5: 14,280,194 (GRCm39) A358T probably damaging Het
Slc29a2 A G 19: 5,076,426 (GRCm39) I105V probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc6a5 G A 7: 49,591,573 (GRCm39) V513I probably damaging Het
Slco4a1 T A 2: 180,115,907 (GRCm39) F681Y possibly damaging Het
Sp1 A G 15: 102,339,445 (GRCm39) N775S possibly damaging Het
Sspo T A 6: 48,432,605 (GRCm39) V827D probably damaging Het
Taar7f C T 10: 23,926,321 (GRCm39) T305M possibly damaging Het
Tars2 A T 3: 95,657,728 (GRCm39) C238S probably damaging Het
Tasor2 A T 13: 3,645,517 (GRCm39) Y111N probably damaging Het
Tnks1bp1 C A 2: 84,893,178 (GRCm39) P373Q probably benign Het
Tnpo3 A G 6: 29,575,045 (GRCm39) L373P probably damaging Het
Unc45b A C 11: 82,805,898 (GRCm39) D135A possibly damaging Het
Vmn1r235 A T 17: 21,481,677 (GRCm39) M1L probably benign Het
Vmn2r66 T C 7: 84,657,149 (GRCm39) I85M probably damaging Het
Vmn2r80 T G 10: 79,004,066 (GRCm39) L93W probably benign Het
Vwf G T 6: 125,650,850 (GRCm39) probably benign Het
Ythdf3 A G 3: 16,238,086 (GRCm39) R9G probably damaging Het
Zfp229 A G 17: 21,964,017 (GRCm39) probably null Het
Zfp958 A C 8: 4,675,838 (GRCm39) probably null 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
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'- CCAGTAAGCCATTGAGGATATGGT -3'
(R):5'- TGGAACCAGAGAGGCTTCAG -3'

Sequencing Primer
(F):5'- AGTAGCTCCCGCACCATG -3'
(R):5'- AGGTACTTTGACAGATCCTCTGAGAC -3'
Posted On 2016-11-08