Mutagenetix > Incidental Mutation

Incidental Mutation 'R5647:Rtl1'

441235

Institutional Source

Beutler Lab

Gene Symbol

Rtl1

Ensembl Gene

ENSMUSG00000085925

Gene Name

retrotransposon Gaglike 1

Synonyms

Mart1, Mar, Mor1

MMRRC Submission

043295-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5647 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

109555627-109566764 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 109561113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 242 (R242Q)

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

unknown
Transcript: ENSMUST00000149046
AA Change: R242Q

SMART Domains

Protein: ENSMUSP00000115957
Gene: ENSMUSG00000085925
AA Change: R242Q

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

95% (55/58)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010L04Rik	T	C	7: 82,505,606 (GRCm39)		noncoding transcript	Het
9330159F19Rik	A	T	10: 29,101,250 (GRCm39)	D541V	probably damaging	Het
Abcc5	T	C	16: 20,218,597 (GRCm39)	I262V	probably damaging	Het
Acvr1c	T	A	2: 58,185,976 (GRCm39)	D169V	probably damaging	Het
Aldh16a1	A	G	7: 44,803,889 (GRCm39)	V6A	probably benign	Het
Brd10	A	G	19: 29,731,210 (GRCm39)	S601P	possibly damaging	Het
Cd36	A	C	5: 18,019,763 (GRCm39)	S113A	probably damaging	Het
Cdt1	G	T	8: 123,296,947 (GRCm39)	R247L	possibly damaging	Het
Ces4a	G	A	8: 105,872,712 (GRCm39)	V322M	probably benign	Het
Cngb3	A	T	4: 19,364,266 (GRCm39)	T157S	possibly damaging	Het
Cpped1	T	C	16: 11,646,010 (GRCm39)		probably benign	Het
Ctr9	G	T	7: 110,654,751 (GRCm39)	R1094L	unknown	Het
Cyld	A	T	8: 89,461,554 (GRCm39)	I664L	probably benign	Het
Dvl2	C	T	11: 69,900,275 (GRCm39)	P690S	possibly damaging	Het
Fbxo7	A	C	10: 85,864,974 (GRCm39)	E94D	probably damaging	Het
Fstl5	A	C	3: 76,496,399 (GRCm39)	K387N	probably damaging	Het
Gm9845	A	C	3: 39,412,520 (GRCm39)		noncoding transcript	Het
Hk1	T	C	10: 62,111,523 (GRCm39)	D746G	probably damaging	Het
Lmbr1	A	G	5: 29,468,391 (GRCm39)		probably null	Het
Lrp2	C	T	2: 69,350,258 (GRCm39)	A705T	probably null	Het
Lrrc37	T	C	11: 103,508,300 (GRCm39)		probably benign	Het
Mybpc3	A	G	2: 90,952,067 (GRCm39)		probably null	Het
Myo15b	T	A	11: 115,762,337 (GRCm39)	L1219Q	probably damaging	Het
Naa35	G	A	13: 59,770,680 (GRCm39)		probably benign	Het
Or4g16	G	T	2: 111,137,392 (GRCm39)	A281S	possibly damaging	Het
Or5b111	A	T	19: 13,291,553 (GRCm39)	I32N	probably damaging	Het
Or5b113	T	C	19: 13,342,541 (GRCm39)	V183A	probably damaging	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Pcnt	T	C	10: 76,221,675 (GRCm39)	T1984A	probably benign	Het
Plcg1	T	C	2: 160,593,588 (GRCm39)	L251P	probably benign	Het
Plin1	T	A	7: 79,371,320 (GRCm39)	D468V	probably benign	Het
Pmp2	A	G	3: 10,248,845 (GRCm39)	V12A	probably benign	Het
Rnf19a	T	A	15: 36,266,109 (GRCm39)		probably benign	Het
Rnf214	G	A	9: 45,779,344 (GRCm39)	Q469*	probably null	Het
Rrp1b	T	G	17: 32,274,985 (GRCm39)		probably benign	Het
Sema3e	A	T	5: 14,275,567 (GRCm39)	E224V	probably damaging	Het
Sphkap	A	G	1: 83,385,720 (GRCm39)	S5P	probably damaging	Het
Stab1	A	C	14: 30,879,397 (GRCm39)	Y694*	probably null	Het
Stambpl1	T	C	19: 34,211,686 (GRCm39)	L249P	probably benign	Het
Thap4	A	T	1: 93,642,665 (GRCm39)	H515Q	probably damaging	Het
Ticam1	TCACACA	TCACA	17: 56,577,629 (GRCm39)		probably null	Het
Uaca	A	G	9: 60,779,380 (GRCm39)	R1256G	probably benign	Het
Usp17lb	T	A	7: 104,489,881 (GRCm39)	N348Y	possibly damaging	Het
Vmn1r42	A	G	6: 89,822,314 (GRCm39)	I85T	probably benign	Het
Vps9d1	A	T	8: 123,975,598 (GRCm39)	L149Q	probably damaging	Het
Zdhhc17	A	T	10: 110,809,694 (GRCm39)	I153N	probably damaging	Het
Zfp207	G	A	11: 80,283,959 (GRCm39)	S293N	possibly damaging	Het
Zfp346	A	G	13: 55,270,170 (GRCm39)	D198G	probably damaging	Het
Zfp953	A	T	13: 67,491,536 (GRCm39)	C139S	possibly damaging	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
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