Mutagenetix > Incidental Mutation

Incidental Mutation 'R7655:Rtl1'

591153

Institutional Source

Beutler Lab

Gene Symbol

Rtl1

Ensembl Gene

ENSMUSG00000085925

Gene Name

retrotransposon Gaglike 1

Synonyms

Mart1, Mar, Mor1

MMRRC Submission

045731-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7655 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

109555627-109566764 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109557442 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1466 (I1466V)

Ref Sequence

ENSEMBL: ENSMUSP00000115957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000149046]

AlphaFold

Q7M732

Predicted Effect

unknown
Transcript: ENSMUST00000149046
AA Change: I1466V

SMART Domains

Protein: ENSMUSP00000115957
Gene: ENSMUSG00000085925
AA Change: I1466V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abitram	A	G	4: 56,804,218 (GRCm39)	I78V	probably benign	Het
Acot2	A	G	12: 84,039,691 (GRCm39)	Y400C	probably benign	Het
Agbl1	A	G	7: 76,059,080 (GRCm39)	M237V		Het
Atrnl1	C	A	19: 57,599,811 (GRCm39)	S9*	probably null	Het
BC031181	A	T	18: 75,142,406 (GRCm39)	K71*	probably null	Het
Bmal2	A	G	6: 146,707,940 (GRCm39)	T21A	probably benign	Het
Brpf1	A	T	6: 113,291,835 (GRCm39)	M294L	probably benign	Het
Camk2g	T	G	14: 20,789,410 (GRCm39)	D382A	possibly damaging	Het
Ccdc33	T	A	9: 58,025,748 (GRCm39)	R94W	probably damaging	Het
Cd244a	T	A	1: 171,404,823 (GRCm39)	L225Q	probably damaging	Het
Chsy1	G	T	7: 65,820,778 (GRCm39)	V338F	probably damaging	Het
Col14a1	A	G	15: 55,225,846 (GRCm39)	I170V	unknown	Het
Col6a2	G	T	10: 76,443,590 (GRCm39)	Q492K	probably benign	Het
Dnah12	G	T	14: 26,581,273 (GRCm39)	V3168L	probably benign	Het
Dnah7a	T	C	1: 53,535,164 (GRCm39)	S2699G	possibly damaging	Het
Fsip2	A	G	2: 82,807,886 (GRCm39)	K1402E	possibly damaging	Het
Ghdc	C	T	11: 100,660,493 (GRCm39)	A127T	probably benign	Het
Glp1r	T	C	17: 31,149,572 (GRCm39)		probably null	Het
Gm19410	A	T	8: 36,276,253 (GRCm39)	M1637L	probably benign	Het
Grm5	T	G	7: 87,779,459 (GRCm39)	D998E	probably benign	Het
Krtcap3	A	G	5: 31,409,904 (GRCm39)	T157A	probably damaging	Het
Luc7l2	A	G	6: 38,580,399 (GRCm39)	R333G	unknown	Het
Mdc1	T	G	17: 36,161,773 (GRCm39)	S895R	probably benign	Het
Mef2a	G	A	7: 66,945,142 (GRCm39)	T80M	probably damaging	Het
Mitd1	T	A	1: 37,924,356 (GRCm39)	I65F	probably benign	Het
Mms19	A	G	19: 41,933,011 (GRCm39)	L1026P	probably damaging	Het
Mtbp	G	T	15: 55,472,922 (GRCm39)	V629L	unknown	Het
Ncapd3	T	A	9: 26,966,801 (GRCm39)	I545N	possibly damaging	Het
Nin	G	A	12: 70,089,542 (GRCm39)	T1291M		Het
Or10z1	T	A	1: 174,077,784 (GRCm39)	K236N	probably damaging	Het
Or5b123	A	T	19: 13,597,197 (GRCm39)	I181F	probably damaging	Het
Orc3	G	T	4: 34,587,032 (GRCm39)	C352*	probably null	Het
Oxct2b	G	A	4: 123,011,550 (GRCm39)	G490D	probably benign	Het
Pcdhb16	A	T	18: 37,612,458 (GRCm39)	T473S	probably benign	Het
Phkg2	G	A	7: 127,182,074 (GRCm39)	G365D	probably damaging	Het
Pira1	T	C	7: 3,742,281 (GRCm39)	E82G	probably damaging	Het
Ppp2r3d	A	T	9: 101,088,911 (GRCm39)	F471I	probably benign	Het
Prl3d1	T	C	13: 27,284,018 (GRCm39)	C196R	possibly damaging	Het
Prmt1	A	T	7: 44,633,552 (GRCm39)	F14L	probably benign	Het
Prox1	A	G	1: 189,894,418 (GRCm39)	L9P	probably damaging	Het
Ptpn13	T	A	5: 103,688,849 (GRCm39)	F881I	probably benign	Het
Rab3ip	A	G	10: 116,750,044 (GRCm39)	I363T	probably benign	Het
Rapgef3	T	C	15: 97,659,090 (GRCm39)	E134G	probably damaging	Het
Rapgef6	C	T	11: 54,585,279 (GRCm39)	P1559L	probably benign	Het
Rnf180	T	C	13: 105,304,096 (GRCm39)	K507E	probably damaging	Het
Rpl3l	T	C	17: 24,949,960 (GRCm39)	I53T	probably benign	Het
Saxo2	A	G	7: 82,284,559 (GRCm39)	Y100H	probably damaging	Het
Selenoh	G	T	2: 84,500,724 (GRCm39)	R39S	probably damaging	Het
Sgsm2	A	G	11: 74,756,323 (GRCm39)	V342A	probably damaging	Het
Slc26a9	T	A	1: 131,690,982 (GRCm39)	F587I	possibly damaging	Het
Smoc1	A	T	12: 81,152,682 (GRCm39)	Q91L	possibly damaging	Het
Spag9	A	C	11: 93,887,389 (GRCm39)	H98P	possibly damaging	Het
Spata31e3	T	G	13: 50,401,122 (GRCm39)	K401N	probably benign	Het
T2	T	A	17: 8,637,047 (GRCm39)	C337*	probably null	Het
Tbc1d19	A	G	5: 54,054,377 (GRCm39)	Y455C	probably damaging	Het
Thbd	A	G	2: 148,249,340 (GRCm39)	L176P	probably damaging	Het
Tmem116	A	G	5: 121,590,252 (GRCm39)		probably null	Het
Tmem25	C	T	9: 44,709,640 (GRCm39)	V54I	possibly damaging	Het
Trpm4	C	T	7: 44,971,233 (GRCm39)	V378I	probably benign	Het
Trrap	G	T	5: 144,779,422 (GRCm39)	W3129C	probably damaging	Het
Ttn	A	T	2: 76,558,660 (GRCm39)	D29740E	probably damaging	Het
Vcan	C	T	13: 89,833,233 (GRCm39)	C3073Y	probably damaging	Het
Xrra1	T	A	7: 99,560,189 (GRCm39)	D388E	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
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
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

2019-11-12