Mutagenetix > Incidental Mutation

Incidental Mutation 'R0141:Rtl1'

22337

Institutional Source

Beutler Lab

Gene Symbol

Rtl1

Ensembl Gene

ENSMUSG00000085925

Gene Name

retrotransposon Gaglike 1

Synonyms

Mart1, Mar, Mor1

MMRRC Submission

038426-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0141 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

109555627-109566764 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109559382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 819 (V819A)

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: V819A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115957
Gene: ENSMUSG00000085925
AA Change: V819A

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: ENSMUST00000175468

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199494

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175205

Meta Mutation Damage Score

0.1064

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 89.9%

Validation Efficiency

88% (50/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	A	C	13: 91,919,947 (GRCm39)	D294A	probably benign	Het
Adamts9	T	C	6: 92,920,066 (GRCm39)	D24G	probably benign	Het
Ahnak	G	A	19: 8,984,044 (GRCm39)	G1776D	probably damaging	Het
Arfgef3	C	A	10: 18,473,155 (GRCm39)	C1636F	probably damaging	Het
AW551984	A	G	9: 39,501,940 (GRCm39)	L722P	probably damaging	Het
Ccndbp1	T	A	2: 120,842,903 (GRCm39)	M188K	probably damaging	Het
Col27a1	A	T	4: 63,183,870 (GRCm39)		probably null	Het
Cpt1c	A	G	7: 44,616,095 (GRCm39)	Y306H	probably damaging	Het
Cyp3a57	A	G	5: 145,298,912 (GRCm39)	I71V	probably benign	Het
Def8	G	A	8: 124,183,234 (GRCm39)	A278T	probably damaging	Het
Dmrt2	A	T	19: 25,655,655 (GRCm39)	Q418L	possibly damaging	Het
Ebf1	T	C	11: 44,798,827 (GRCm39)	L284S	probably damaging	Het
Fam131a	G	A	16: 20,517,738 (GRCm39)	A15T	probably benign	Het
Fbxo17	A	G	7: 28,432,916 (GRCm39)	T146A	possibly damaging	Het
Fer1l6	A	G	15: 58,430,251 (GRCm39)	E226G	probably damaging	Het
Galnt18	A	T	7: 111,198,238 (GRCm39)	I174N	probably damaging	Het
Gm44501	T	C	17: 40,889,744 (GRCm39)	I86T	probably benign	Het
Gtsf1l	T	C	2: 162,929,246 (GRCm39)	Q79R	probably benign	Het
Hapln4	T	C	8: 70,540,930 (GRCm39)	L321P	probably damaging	Het
Herc2	A	G	7: 55,771,309 (GRCm39)	T1024A	probably benign	Het
Hps5	A	G	7: 46,438,605 (GRCm39)	S43P	probably damaging	Het
Igsf10	A	G	3: 59,238,253 (GRCm39)	Y643H	probably damaging	Het
Lama4	G	A	10: 38,968,274 (GRCm39)	R1472H	probably benign	Het
Lhx9	A	G	1: 138,767,744 (GRCm39)	Y73H	possibly damaging	Het
Loxl1	T	A	9: 58,219,415 (GRCm39)	Q252L	probably damaging	Het
Lrrc37	A	C	11: 103,504,512 (GRCm39)	I2485M	probably damaging	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Nr3c2	T	A	8: 77,635,037 (GRCm39)	V46D	probably damaging	Het
Or11h4	T	C	14: 50,973,840 (GRCm39)	S260G	possibly damaging	Het
Or4k77	T	A	2: 111,199,835 (GRCm39)	I286N	probably damaging	Het
Or5i1	C	G	2: 87,613,049 (GRCm39)	P55R	possibly damaging	Het
Or5p63	A	C	7: 107,811,210 (GRCm39)	N175K	possibly damaging	Het
Or5p70	A	T	7: 107,994,575 (GRCm39)	N83Y	probably benign	Het
Osbp	T	C	19: 11,951,223 (GRCm39)	V256A	possibly damaging	Het
Pclo	A	T	5: 14,841,936 (GRCm39)	D4737V	unknown	Het
Pkdrej	A	G	15: 85,699,831 (GRCm39)	I2035T	probably damaging	Het
Plek2	A	G	12: 78,941,278 (GRCm39)	S185P	probably damaging	Het
Pnpla6	G	T	8: 3,582,117 (GRCm39)		probably null	Het
Pou3f2	T	C	4: 22,487,210 (GRCm39)	T308A	possibly damaging	Het
Pramel22	T	C	4: 143,381,138 (GRCm39)	Y295C	probably benign	Het
Pxmp4	A	G	2: 154,434,215 (GRCm39)	V82A	probably damaging	Het
Rnf6	A	T	5: 146,148,645 (GRCm39)	N135K	possibly damaging	Het
Scn1a	C	A	2: 66,119,406 (GRCm39)	V1355L	probably damaging	Het
Scn2a	T	A	2: 65,542,160 (GRCm39)	N754K	probably benign	Het
Serpina3b	A	T	12: 104,097,030 (GRCm39)	N104Y	probably damaging	Het
Sh3rf2	T	C	18: 42,289,122 (GRCm39)	S648P	probably benign	Het
Slc17a6	G	A	7: 51,318,815 (GRCm39)	V486I	probably benign	Het
Spata31e2	A	T	1: 26,722,863 (GRCm39)	N772K	probably benign	Het
Syne2	T	G	12: 75,988,072 (GRCm39)	D1743E	probably damaging	Het
Tex14	T	G	11: 87,383,857 (GRCm39)		probably null	Het
Tfb1m	T	C	17: 3,605,232 (GRCm39)	D87G	probably damaging	Het
Tll2	C	T	19: 41,086,351 (GRCm39)	G609S	probably damaging	Het
Tsc22d2	A	T	3: 58,324,577 (GRCm39)		probably benign	Het
Tsen2	A	G	6: 115,545,790 (GRCm39)	D360G	probably damaging	Het
Ugt2b37	G	A	5: 87,388,842 (GRCm39)	P457L	probably damaging	Het
Vmn1r68	T	C	7: 10,261,252 (GRCm39)	N282S	possibly damaging	Het
Vmn2r58	G	A	7: 41,511,309 (GRCm39)	S498F	probably benign	Het
Zfp959	T	C	17: 56,205,139 (GRCm39)	I392T	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
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
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'- TTTCCTTAATCCCAAGCAGCTCCAG -3'
(R):5'- TTAGGCATGAAGTGGCTCCGAAC -3'

Sequencing Primer
(F):5'- AGCAGCTCCAGTTTTGTGAAC -3'
(R):5'- TGGCTCCGAACCCATGC -3'

Posted On

2013-04-16