Mutagenetix > Incidental Mutation

Incidental Mutation 'R6051:Rtl1'

484111

Institutional Source

Beutler Lab

Gene Symbol

Rtl1

Ensembl Gene

ENSMUSG00000085925

Gene Name

retrotransposon Gaglike 1

Synonyms

Mart1, Mar, Mor1

MMRRC Submission

044219-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6051 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

109555627-109566764 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 109559458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 794 (P794S)

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: P794S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115957
Gene: ENSMUSG00000085925
AA Change: P794S

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: ENSMUST00000175205

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199494

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175468

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,231,304 (GRCm39)	A1021S	possibly damaging	Het
Abl2	A	G	1: 156,469,655 (GRCm39)	D869G	probably damaging	Het
Adamts9	G	A	6: 92,836,907 (GRCm39)	A615V	possibly damaging	Het
Adamts9	A	G	6: 92,867,099 (GRCm39)	Y96H	probably damaging	Het
Arhgef37	A	G	18: 61,640,345 (GRCm39)	I238T	probably damaging	Het
Atr	T	A	9: 95,790,422 (GRCm39)	H1587Q	possibly damaging	Het
BB014433	T	C	8: 15,092,179 (GRCm39)	T225A	possibly damaging	Het
Bcas2	T	C	3: 103,081,657 (GRCm39)	Y87H	possibly damaging	Het
Brca1	C	T	11: 101,415,072 (GRCm39)	E160K	probably damaging	Het
Cd2ap	T	C	17: 43,107,219 (GRCm39)	*638W	probably null	Het
Chd2	A	T	7: 73,085,590 (GRCm39)	D1681E	probably benign	Het
Cit	C	T	5: 115,984,464 (GRCm39)	P12L	probably benign	Het
Cracdl	G	T	1: 37,663,306 (GRCm39)	P864Q	probably damaging	Het
Crisp1	T	C	17: 40,616,017 (GRCm39)	Y120C	possibly damaging	Het
Cyp2c65	A	G	19: 39,049,610 (GRCm39)	D46G	probably benign	Het
Cyp2d34	A	T	15: 82,500,971 (GRCm39)	V387D	probably damaging	Het
E130311K13Rik	T	C	3: 63,823,062 (GRCm39)	H194R	probably benign	Het
Egfr	C	A	11: 16,833,607 (GRCm39)	T625N	possibly damaging	Het
Fat3	A	G	9: 16,286,751 (GRCm39)	V924A	possibly damaging	Het
Fgd6	T	C	10: 93,973,427 (GRCm39)		probably null	Het
Galnt6	A	T	15: 100,592,549 (GRCm39)	C553S	probably damaging	Het
Gm5617	T	C	9: 48,407,187 (GRCm39)	L107P	possibly damaging	Het
Hectd1	G	T	12: 51,800,887 (GRCm39)	T2035N	probably benign	Het
Hp1bp3	A	G	4: 137,961,615 (GRCm39)	T154A	possibly damaging	Het
Il10rb	A	G	16: 91,218,752 (GRCm39)	T262A	probably benign	Het
Kansl1l	A	T	1: 66,765,885 (GRCm39)	N704K	probably null	Het
Kbtbd12	T	C	6: 88,594,930 (GRCm39)	D300G	possibly damaging	Het
Lama4	G	A	10: 38,943,898 (GRCm39)	A734T	probably benign	Het
Mllt6	G	T	11: 97,571,569 (GRCm39)	G1069*	probably null	Het
Mns1	T	C	9: 72,356,735 (GRCm39)	L302P	probably damaging	Het
Muc5ac	T	A	7: 141,365,594 (GRCm39)	C2039S	possibly damaging	Het
Myof	A	G	19: 38,012,809 (GRCm39)	L42P	probably damaging	Het
Ncoa3	T	C	2: 165,900,685 (GRCm39)	L868S	probably damaging	Het
Ndc80	C	T	17: 71,824,573 (GRCm39)	G212E	probably benign	Het
Ntn4	A	G	10: 93,581,657 (GRCm39)	H610R	probably benign	Het
Nufip2	T	A	11: 77,582,742 (GRCm39)	Y219N	probably damaging	Het
Or51m1	T	C	7: 103,578,084 (GRCm39)	F18S	probably damaging	Het
Pbxip1	T	C	3: 89,350,477 (GRCm39)	S41P	probably benign	Het
Phactr2	A	T	10: 13,137,555 (GRCm39)	C196S	probably null	Het
Ppp3ca	T	A	3: 136,581,883 (GRCm39)	Y140N	probably damaging	Het
Ptprb	C	A	10: 116,176,995 (GRCm39)	Y1260*	probably null	Het
Rap1a	C	T	3: 105,657,613 (GRCm39)	R2H	possibly damaging	Het
Rbbp8	G	A	18: 11,871,664 (GRCm39)	V794I	probably benign	Het
Rbks	T	C	5: 31,809,163 (GRCm39)	N200S	probably damaging	Het
Relch	G	T	1: 105,648,997 (GRCm39)	G712V	probably damaging	Het
Rnf186	G	T	4: 138,695,277 (GRCm39)	K272N	probably damaging	Het
Tbc1d30	T	A	10: 121,132,750 (GRCm39)	I205F	probably damaging	Het
Tkt	C	T	14: 30,290,153 (GRCm39)	P261S	probably benign	Het
Trp53	G	A	11: 69,480,434 (GRCm39)	R267H	possibly damaging	Het
Ttc14	T	C	3: 33,863,073 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,737,805 (GRCm39)	S4245P	probably benign	Het
Vmn1r75	A	T	7: 11,614,978 (GRCm39)	I237F	probably damaging	Het
Vmn2r57	T	A	7: 41,097,896 (GRCm39)	H57L	probably benign	Het
Wdr62	T	C	7: 29,960,809 (GRCm39)	N40S	possibly damaging	Het
Xcr1	A	T	9: 123,685,181 (GRCm39)	F194I	probably benign	Het
Zmiz1	T	A	14: 25,572,494 (GRCm39)	M1K	probably null	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
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'- TGATCACTGTCTCCAGCCTG -3'
(R):5'- ATTGGCAATGAACCCGTCTG -3'

Sequencing Primer
(F):5'- ACTGTCTCCAGCCTGCTGAAG -3'
(R):5'- TGGTATGTGTCCACCAGAAGC -3'

Posted On

2017-07-14