Incidental Mutation 'R9036:Rtl1'
ID 687418
Institutional Source Beutler Lab
Gene Symbol Rtl1
Ensembl Gene ENSMUSG00000085925
Gene Name retrotransposon Gaglike 1
Synonyms Mart1, Mar, Mor1
MMRRC Submission 068865-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9036 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 109555627-109566764 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109559691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 716 (V716A)
Ref Sequence ENSEMBL: ENSMUSP00000115957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000149046]
AlphaFold Q7M732
Predicted Effect probably benign
Transcript: ENSMUST00000149046
AA Change: V716A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000115957
Gene: ENSMUSG00000085925
AA Change: V716A

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 G T 11: 54,227,840 (GRCm39) probably null Het
Anapc5 A G 5: 122,957,716 (GRCm39) L69P possibly damaging Het
Aoc1l3 CCTAAATTTCCTATCCCGATCAGCAAGGGTGGCCCTCGAGTGCCCCAGCCCCATGCTAAATTTCC CCTAAATTTCC 6: 48,965,074 (GRCm39) probably benign Het
Arfgef1 A T 1: 10,259,055 (GRCm39) S681T probably benign Het
Arhgef19 A G 4: 140,976,549 (GRCm39) D437G probably damaging Het
Arhgef25 A G 10: 127,019,089 (GRCm39) V576A probably benign Het
Arl5b T C 2: 15,073,012 (GRCm39) probably null Het
Atg10 T A 13: 91,189,071 (GRCm39) T80S probably benign Het
BC034090 A G 1: 155,117,419 (GRCm39) V233A possibly damaging Het
Bicdl2 C T 17: 23,887,158 (GRCm39) R482C probably damaging Het
Ccdc63 G A 5: 122,247,346 (GRCm39) P500S probably benign Het
Ccn2 A T 10: 24,472,647 (GRCm39) T186S probably benign Het
Ccng1 A T 11: 40,643,078 (GRCm39) I123K possibly damaging Het
Ccp110 C T 7: 118,324,680 (GRCm39) S734F probably damaging Het
Cds2 T C 2: 132,139,614 (GRCm39) probably null Het
Cenpw G A 10: 30,074,523 (GRCm39) T58I probably benign Het
Cfap61 T A 2: 145,850,839 (GRCm39) L326I probably benign Het
Cgn T A 3: 94,674,551 (GRCm39) Q862L possibly damaging Het
Cntrl T A 2: 35,016,071 (GRCm39) D362E probably damaging Het
Col22a1 C T 15: 71,762,431 (GRCm39) G76E probably damaging Het
Cplane1 C T 15: 8,252,622 (GRCm39) T1948I possibly damaging Het
Crip2 A G 12: 113,108,030 (GRCm39) T140A probably benign Het
Csde1 T C 3: 102,950,976 (GRCm39) V229A probably damaging Het
Cyp2d34 A G 15: 82,500,523 (GRCm39) F439L probably damaging Het
Dync1h1 A G 12: 110,606,186 (GRCm39) T2419A probably benign Het
Dync2h1 A T 9: 7,051,495 (GRCm39) F3147I probably damaging Het
Dynlt1f T C 17: 6,916,707 (GRCm39) T101A probably benign Het
Efcab3 A G 11: 104,927,601 (GRCm39) H4790R probably benign Het
Efcab8 G A 2: 153,622,888 (GRCm39) S19N Het
Eno2 A T 6: 124,740,091 (GRCm39) I315K possibly damaging Het
Erich3 A G 3: 154,468,886 (GRCm39) T1113A unknown Het
Fam217a A T 13: 35,095,007 (GRCm39) Y251N possibly damaging Het
Fcrlb A T 1: 170,734,938 (GRCm39) H396Q probably benign Het
Fcsk A G 8: 111,614,064 (GRCm39) V693A probably benign Het
Fgd5 A T 6: 92,046,447 (GRCm39) K1397* probably null Het
Frem1 C A 4: 82,831,785 (GRCm39) L2010F probably benign Het
Fzd8 A G 18: 9,214,661 (GRCm39) Y581C probably damaging Het
Gcc2 T C 10: 58,106,411 (GRCm39) V549A possibly damaging Het
Gcnt4 G A 13: 97,083,042 (GRCm39) V113I probably benign Het
Gldn A G 9: 54,245,747 (GRCm39) I433V probably benign Het
Gm3336 A G 8: 71,173,069 (GRCm39) D27G unknown Het
Gm6133 T A 18: 78,393,146 (GRCm39) Y47N probably damaging Het
Gm8257 A T 14: 44,893,877 (GRCm39) N62K probably benign Het
Gpr18 T G 14: 122,149,667 (GRCm39) R119S probably damaging Het
Grm5 A T 7: 87,685,397 (GRCm39) I505F possibly damaging Het
Hdgfl1 T C 13: 26,953,428 (GRCm39) E215G probably benign Het
Heg1 T A 16: 33,527,339 (GRCm39) C100S probably benign Het
Isg20l2 T C 3: 87,839,302 (GRCm39) V171A probably benign Het
Lrrc49 A T 9: 60,495,150 (GRCm39) C694S probably benign Het
Map7d1 A T 4: 126,133,911 (GRCm39) I217N probably damaging Het
Mbnl2 A T 14: 120,562,712 (GRCm39) Q21L probably benign Het
Mfsd10 A T 5: 34,792,751 (GRCm39) F220Y probably benign Het
Mmp1b A C 9: 7,387,909 (GRCm39) N28K probably null Het
Muc16 A T 9: 18,555,975 (GRCm39) N3439K unknown Het
Myef2l C A 3: 10,157,341 (GRCm39) Q495K unknown Het
Myo9a A T 9: 59,687,584 (GRCm39) K230* probably null Het
Mysm1 T C 4: 94,835,294 (GRCm39) T790A probably benign Het
Nell2 C T 15: 95,194,117 (GRCm39) C532Y probably damaging Het
Nmnat1 T A 4: 149,553,482 (GRCm39) N210I probably damaging Het
Or14j7 T G 17: 38,235,168 (GRCm39) V237G probably benign Het
Or2aj6 A T 16: 19,443,295 (GRCm39) L185* probably null Het
Or4k41 T C 2: 111,280,343 (GRCm39) I286T probably damaging Het
Or7g16 G A 9: 18,727,569 (GRCm39) T7I probably damaging Het
Pabpc6 T C 17: 9,888,281 (GRCm39) D90G probably damaging Het
Pacs2 A T 12: 113,026,104 (GRCm39) I554F possibly damaging Het
Padi3 C A 4: 140,523,004 (GRCm39) V323L probably benign Het
Piezo1 G A 8: 123,215,090 (GRCm39) P1484L Het
Pogk A G 1: 166,227,254 (GRCm39) I299T possibly damaging Het
Ptprk A G 10: 28,461,928 (GRCm39) I1164V probably benign Het
Raph1 A G 1: 60,542,124 (GRCm39) M278T unknown Het
Rasa3 T A 8: 13,645,851 (GRCm39) Q163L probably benign Het
Rbm6 T A 9: 107,660,911 (GRCm39) K884I probably damaging Het
Sag A G 1: 87,749,054 (GRCm39) K151R probably damaging Het
Scara5 G A 14: 66,000,197 (GRCm39) V456M probably benign Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Slc4a1 A T 11: 102,243,279 (GRCm39) V784D probably damaging Het
Sstr1 T C 12: 58,259,569 (GRCm39) I64T possibly damaging Het
Steap1 A G 5: 5,790,708 (GRCm39) I80T probably benign Het
Tbc1d24 T A 17: 24,427,491 (GRCm39) D157V probably benign Het
Thsd7a T C 6: 12,418,249 (GRCm39) E660G Het
Trappc3l A G 10: 33,932,786 (GRCm39) probably benign Het
Tsc22d2 T C 3: 58,323,497 (GRCm39) S130P probably benign Het
Tti2 T A 8: 31,645,814 (GRCm39) I376N probably damaging Het
Ttll2 C A 17: 7,619,054 (GRCm39) W291L probably benign Het
Ttll3 G A 6: 113,376,657 (GRCm39) V345I possibly damaging Het
Ttn A G 2: 76,565,046 (GRCm39) Y28394H probably damaging Het
Usp45 A G 4: 21,832,201 (GRCm39) Y684C probably damaging Het
Vdr A G 15: 97,765,089 (GRCm39) S217P probably benign Het
Xpot A G 10: 121,447,580 (GRCm39) L105P probably damaging Het
Zan A G 5: 137,464,206 (GRCm39) I533T probably damaging Het
Zbtb8a T C 4: 129,248,059 (GRCm39) E404G probably benign Het
Zfp106 T A 2: 120,369,906 (GRCm39) I62F probably damaging Het
Zfp451 A T 1: 33,815,562 (GRCm39) F796Y 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
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
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'- GAAGCAATTCCGCAGACAGTAG -3'
(R):5'- CAGACATTGATCGCGATCACC -3'

Sequencing Primer
(F):5'- GAAGGTACACCGGCCTCTCATC -3'
(R):5'- AGACATTGATCGCGATCACCTCTTC -3'
Posted On 2021-11-19