Mutagenetix > Incidental Mutation

Incidental Mutation 'R5695:Rtl1'

443895

Institutional Source

Beutler Lab

Gene Symbol

Rtl1

Ensembl Gene

ENSMUSG00000085925

Gene Name

retrotransposon Gaglike 1

Synonyms

Mart1, Mar, Mor1

MMRRC Submission

043326-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5695 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109555627-109566764 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 109560531 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 436 (E436V)

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 damaging
Transcript: ENSMUST00000149046
AA Change: E436V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115957
Gene: ENSMUSG00000085925
AA Change: E436V

Domain	Start	End	E-Value	Type
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: ENSMUST00000199494

Meta Mutation Damage Score

0.1683

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.2%

Validation Efficiency

98% (58/59)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	T	A	12: 84,660,745 (GRCm39)	H116L	probably damaging	Het
Anapc4	C	T	5: 53,019,581 (GRCm39)	S581L	probably benign	Het
Ano8	A	C	8: 71,935,887 (GRCm39)	D276E	probably damaging	Het
Aspm	G	A	1: 139,407,407 (GRCm39)	R2098H	probably benign	Het
Bend7	G	A	2: 4,768,052 (GRCm39)	R336Q	probably damaging	Het
Bpifb4	G	A	2: 153,784,843 (GRCm39)	G184S	probably damaging	Het
Cbx8	T	C	11: 118,930,137 (GRCm39)	D152G	probably benign	Het
Cdca2	A	G	14: 67,943,078 (GRCm39)		probably null	Het
Cgn	G	A	3: 94,680,945 (GRCm39)	A531V	probably benign	Het
Cmya5	C	A	13: 93,182,374 (GRCm39)		probably null	Het
Cntnap3	A	G	13: 64,935,769 (GRCm39)	S365P	probably damaging	Het
Crnn	A	G	3: 93,056,330 (GRCm39)	Q372R	probably damaging	Het
Ehf	T	A	2: 103,097,124 (GRCm39)	E276V	probably damaging	Het
Eif4g3	T	A	4: 137,890,744 (GRCm39)		probably null	Het
Enpep	C	T	3: 129,102,748 (GRCm39)	D403N	probably damaging	Het
Enpp1	T	C	10: 24,530,806 (GRCm39)	E550G	probably damaging	Het
Entpd8	A	G	2: 24,974,346 (GRCm39)	D377G	probably benign	Het
Epc2	T	A	2: 49,437,619 (GRCm39)		probably null	Het
Erich3	G	T	3: 154,439,210 (GRCm39)	G481V	probably damaging	Het
Fank1	A	G	7: 133,471,075 (GRCm39)	Y156C	probably damaging	Het
Fras1	A	G	5: 96,929,203 (GRCm39)	D3869G	probably damaging	Het
Gcnt2	A	G	13: 41,071,675 (GRCm39)	D106G	probably benign	Het
Gm20830	A	T	Y: 6,916,501 (GRCm39)	V206E	probably benign	Het
Gmpr2	T	C	14: 55,914,691 (GRCm39)	V228A	possibly damaging	Het
Gon4l	TGAGCA	TGAGCAGAGCA	3: 88,803,523 (GRCm39)		probably null	Het
Gtpbp1	G	A	15: 79,596,375 (GRCm39)		probably null	Het
Hhat	A	T	1: 192,399,327 (GRCm39)	M271K	probably damaging	Het
Hipk2	A	T	6: 38,795,810 (GRCm39)	M153K	possibly damaging	Het
Hydin	A	T	8: 111,261,915 (GRCm39)	H2672L	probably benign	Het
Igfbpl1	A	T	4: 45,826,374 (GRCm39)	D140E	probably damaging	Het
Kctd1	T	G	18: 15,196,573 (GRCm39)		probably benign	Het
Lax1	A	T	1: 133,608,316 (GRCm39)	Y142N	probably damaging	Het
Lpin2	C	T	17: 71,551,798 (GRCm39)	R733C	probably damaging	Het
Morn4	A	G	19: 42,064,556 (GRCm39)	L144P	possibly damaging	Het
Nup214	C	A	2: 31,924,385 (GRCm39)	T1638K	probably damaging	Het
Nyap1	C	T	5: 137,733,246 (GRCm39)	A596T	probably damaging	Het
Oas1d	T	C	5: 121,053,074 (GRCm39)	M43T	probably benign	Het
Or4l15	T	C	14: 50,198,080 (GRCm39)	T150A	probably benign	Het
Or6x1	T	C	9: 40,098,897 (GRCm39)	V162A	probably benign	Het
Or8b42	A	G	9: 38,342,472 (GRCm39)	H298R	probably benign	Het
Pacs1	A	G	19: 5,186,819 (GRCm39)	F851S	probably damaging	Het
Pcdh17	A	G	14: 84,683,800 (GRCm39)	Q89R	probably damaging	Het
Phrf1	A	G	7: 140,838,378 (GRCm39)		probably benign	Het
Plekhb1	A	T	7: 100,304,602 (GRCm39)	I34N	probably damaging	Het
Ralgapa2	T	C	2: 146,175,397 (GRCm39)	E1800G	probably damaging	Het
Rbm33	A	T	5: 28,544,010 (GRCm39)	I89F	probably damaging	Het
Slc2a4	G	T	11: 69,837,217 (GRCm39)	P73Q	probably damaging	Het
Sorbs2	A	T	8: 46,245,912 (GRCm39)	T311S	probably benign	Het
Sulf2	G	A	2: 165,974,678 (GRCm39)	A2V	probably benign	Het
Supt16	A	T	14: 52,411,601 (GRCm39)		probably null	Het
Vmn1r26	A	T	6: 57,985,738 (GRCm39)	N150K	probably damaging	Het
Vmn2r39	T	A	7: 9,028,150 (GRCm39)	H407L	possibly damaging	Het
Vmn2r84	T	A	10: 130,225,064 (GRCm39)	Y482F	probably benign	Het
Vps9d1	T	C	8: 123,973,655 (GRCm39)	E376G	probably benign	Het
Wrn	C	A	8: 33,814,346 (GRCm39)	G366V	probably benign	Het

Other mutations in Rtl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- AAGGCTAGGTCAGTCAGGTG -3'
(R):5'- GGCATCCGATTATAGCATGGATG -3'

Sequencing Primer
(F):5'- GGATGACGAATTTCACCCGCAG -3'
(R):5'- CCGATTATAGCATGGATGAAACAATC -3'

Posted On

2016-11-09