Mutagenetix > Incidental Mutation

Incidental Mutation 'R7020:Rtl1'

545580

Institutional Source

Beutler Lab

Gene Symbol

Rtl1

Ensembl Gene

ENSMUSG00000085925

Gene Name

retrotransposon Gaglike 1

Synonyms

Mart1, Mar, Mor1

MMRRC Submission

045121-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7020 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109555627-109566764 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109558749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 1030 (Q1030R)

Ref Sequence

ENSEMBL: ENSMUSP00000115957 (fasta)

Gene Model

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

AlphaFold

Q7M732

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149046
AA Change: Q1030R

PolyPhen 2 Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000115957
Gene: ENSMUSG00000085925
AA Change: Q1030R

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: 99.6%
20x: 98.7%

Validation Efficiency

100% (52/52)

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
1700001K19Rik	C	T	12: 110,634,975 (GRCm39)	G188R	probably damaging	Het
Abhd3	T	C	18: 10,645,127 (GRCm39)	Y384C	probably damaging	Het
Cd209b	T	A	8: 3,968,783 (GRCm39)	E282V	probably damaging	Het
Cep350	A	C	1: 155,804,077 (GRCm39)	L1002W	probably damaging	Het
Clcn1	T	C	6: 42,275,754 (GRCm39)	V292A	probably damaging	Het
Clcn7	T	C	17: 25,365,325 (GRCm39)	I107T	possibly damaging	Het
Cntrob	A	G	11: 69,193,918 (GRCm39)		probably null	Het
Crb1	A	T	1: 139,159,341 (GRCm39)	S1294T	possibly damaging	Het
Cst13	T	G	2: 148,665,129 (GRCm39)	Y41*	probably null	Het
Gp1ba	A	G	11: 70,531,139 (GRCm39)		probably benign	Het
Gucy2e	A	T	11: 69,123,619 (GRCm39)	L427I	probably benign	Het
Gucy2g	A	G	19: 55,221,482 (GRCm39)	S340P	probably damaging	Het
Herc1	A	G	9: 66,393,360 (GRCm39)	T4080A	probably benign	Het
Iglon5	A	T	7: 43,126,319 (GRCm39)	C195S	probably damaging	Het
Itgae	A	G	11: 73,002,195 (GRCm39)	T100A	probably damaging	Het
Jarid2	C	T	13: 45,038,300 (GRCm39)	S205L	probably damaging	Het
Macrod2	A	T	2: 142,231,795 (GRCm39)	*424C	probably null	Het
Map2k6	A	T	11: 110,397,540 (GRCm39)		probably benign	Het
Muc4	A	T	16: 32,570,628 (GRCm39)	K563*	probably null	Het
Myh7b	T	C	2: 155,473,671 (GRCm39)	I1568T	possibly damaging	Het
Myo15b	G	A	11: 115,757,493 (GRCm39)	W1114*	probably null	Het
Mypn	T	C	10: 63,028,289 (GRCm39)	Y258C	probably damaging	Het
Notch1	T	C	2: 26,371,586 (GRCm39)	T288A	possibly damaging	Het
Npc1	C	T	18: 12,331,594 (GRCm39)	G859R	probably damaging	Het
Olfm2	T	A	9: 20,579,864 (GRCm39)	R326W	probably damaging	Het
Or2a7	T	C	6: 43,151,096 (GRCm39)	Y59H	possibly damaging	Het
Or5al7	A	G	2: 85,992,363 (GRCm39)	I310T	probably benign	Het
Or5g23	A	G	2: 85,438,976 (GRCm39)	S93P	probably benign	Het
Ovol1	G	A	19: 5,610,261 (GRCm39)	P23L	probably damaging	Het
Pappa2	C	A	1: 158,675,579 (GRCm39)	V1056F	probably damaging	Het
Pik3ca	T	C	3: 32,490,428 (GRCm39)	L25S	probably damaging	Het
Pla2r1	T	C	2: 60,277,743 (GRCm39)	H860R	possibly damaging	Het
Pms1	A	T	1: 53,228,541 (GRCm39)	H902Q	probably damaging	Het
Ptgs1	T	G	2: 36,141,041 (GRCm39)	L496R	probably damaging	Het
Ralgapa2	A	T	2: 146,188,638 (GRCm39)	Y1381*	probably null	Het
Ryr3	T	A	2: 112,583,423 (GRCm39)	Y2816F	probably benign	Het
Sh2b2	T	C	5: 136,253,153 (GRCm39)	T340A	possibly damaging	Het
Slc30a5	T	A	13: 100,961,421 (GRCm39)		probably null	Het
Spta1	T	C	1: 174,036,918 (GRCm39)	L1143P	probably damaging	Het
St8sia5	T	C	18: 77,333,876 (GRCm39)	I178T	probably damaging	Het
Tap2	A	G	17: 34,433,388 (GRCm39)	N517S	possibly damaging	Het
Tcp11	A	G	17: 28,290,679 (GRCm39)	Y227H	possibly damaging	Het
Usp34	A	G	11: 23,343,954 (GRCm39)	D1411G	probably benign	Het
Vmn2r105	A	G	17: 20,429,336 (GRCm39)	L580P	probably damaging	Het
Wdr19	A	G	5: 65,413,657 (GRCm39)	E1200G	probably damaging	Het
Xirp2	T	C	2: 67,355,913 (GRCm39)	V3558A	probably benign	Het
Xpo7	T	C	14: 70,903,463 (GRCm39)	N1082S	probably benign	Het
Zbtb49	A	T	5: 38,370,711 (GRCm39)	L390*	probably null	Het
Zfp639	C	A	3: 32,574,261 (GRCm39)	D295E	probably 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
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
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'- GCTCTGAACTCAGCAGTTGTC -3'
(R):5'- TCTGACGAAGGGAACAACATTG -3'

Sequencing Primer
(F):5'- GAACTCAGCAGTTGTCTCACTAGG -3'
(R):5'- TGTTCACTTCATCCTAAAAGACATCC -3'

Posted On

2019-05-13