Mutagenetix > Incidental Mutation

Incidental Mutation 'R9615:Rtl1'

724525

Institutional Source

Beutler Lab

Gene Symbol

Rtl1

Ensembl Gene

ENSMUSG00000085925

Gene Name

retrotransposon Gaglike 1

Synonyms

Mart1, Mar, Mor1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9615 (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 109556835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 1668 (A1668V)

Ref Sequence

ENSEMBL: ENSMUSP00000115957 (fasta)

Gene Model

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

AlphaFold

Q7M732

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149046
AA Change: A1668V

PolyPhen 2 Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115957
Gene: ENSMUSG00000085925
AA Change: A1668V

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: 99.0%

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
1700123K08Rik	T	C	5: 138,561,814 (GRCm39)	Q124R	probably damaging	Het
Abca16	T	A	7: 120,126,404 (GRCm39)	F1188I	probably benign	Het
Acat3	G	A	17: 13,147,502 (GRCm39)	Q172*	probably null	Het
Aicda	T	A	6: 122,538,113 (GRCm39)	C90*	probably null	Het
Arhgap39	C	A	15: 76,621,438 (GRCm39)	V388L	probably benign	Het
B020011L13Rik	A	T	1: 117,729,462 (GRCm39)	H323L	probably damaging	Het
Bsn	C	T	9: 107,984,430 (GRCm39)	R436Q		Het
C3	A	T	17: 57,518,669 (GRCm39)	L1238Q	probably damaging	Het
Cert1	C	T	13: 96,767,334 (GRCm39)	H495Y	possibly damaging	Het
Ces1g	A	G	8: 94,061,807 (GRCm39)	V33A	probably damaging	Het
Clstn1	A	G	4: 149,722,757 (GRCm39)	D475G	probably damaging	Het
Cmtm2a	A	G	8: 105,019,286 (GRCm39)	V101A	probably damaging	Het
Cnnm4	A	G	1: 36,511,893 (GRCm39)	M374V	probably damaging	Het
Commd9	T	C	2: 101,727,436 (GRCm39)	S77P	possibly damaging	Het
Cox7a2l	A	G	17: 83,821,701 (GRCm39)	Y2H	possibly damaging	Het
Cramp1	C	A	17: 25,201,783 (GRCm39)	K566N	probably damaging	Het
Cubn	G	A	2: 13,325,991 (GRCm39)	H2725Y	possibly damaging	Het
Cyp2c39	T	C	19: 39,501,617 (GRCm39)	F57L	probably benign	Het
Dgkh	A	T	14: 78,813,370 (GRCm39)	V1036D	possibly damaging	Het
Dip2c	G	A	13: 9,625,191 (GRCm39)	V562I	probably benign	Het
Fat3	T	C	9: 16,289,343 (GRCm39)	Q60R	probably benign	Het
Gm1527	A	G	3: 28,969,475 (GRCm39)	D275G	probably damaging	Het
Gp5	A	C	16: 30,128,393 (GRCm39)	F94V	probably damaging	Het
Grik4	T	A	9: 42,502,765 (GRCm39)	K453*	probably null	Het
Hdlbp	T	C	1: 93,358,014 (GRCm39)	T296A	probably benign	Het
Hrh4	C	A	18: 13,154,944 (GRCm39)	T161K	probably benign	Het
Ift74	A	T	4: 94,550,822 (GRCm39)		probably null	Het
Kctd5	A	T	17: 24,292,192 (GRCm39)	Y71N	probably benign	Het
Klhl42	T	C	6: 147,009,373 (GRCm39)	L404P	probably damaging	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Lipe	T	A	7: 25,097,326 (GRCm39)	K206*	probably null	Het
Lipo3	T	C	19: 33,754,047 (GRCm39)	I363V	probably benign	Het
Mrgpra6	T	A	7: 46,835,675 (GRCm39)	I249F	probably benign	Het
Myo15a	A	T	11: 60,374,320 (GRCm39)	N125I		Het
Nbr1	T	A	11: 101,465,978 (GRCm39)	I753N	probably benign	Het
Ndor1	T	C	2: 25,138,434 (GRCm39)	D451G	probably benign	Het
Nlrp5	C	T	7: 23,107,561 (GRCm39)	T78I	probably benign	Het
Or10j3b	A	T	1: 173,044,034 (GRCm39)	E272V	possibly damaging	Het
Or51ag1	C	T	7: 103,155,727 (GRCm39)	R142H	probably benign	Het
Prom1	A	G	5: 44,164,399 (GRCm39)	F728S	probably damaging	Het
Ptgs2	T	A	1: 149,980,802 (GRCm39)	F456Y	probably damaging	Het
Runx2	A	T	17: 44,969,560 (GRCm39)	D310E	probably benign	Het
Samd4b	A	T	7: 28,106,714 (GRCm39)	I349K	probably damaging	Het
Scn10a	A	G	9: 119,487,504 (GRCm39)	M610T	possibly damaging	Het
Sec61b	A	G	4: 47,483,056 (GRCm39)	I105V	probably benign	Het
Semp2l2b	T	C	10: 21,943,611 (GRCm39)	E123G	probably benign	Het
Slc35f4	A	G	14: 49,556,306 (GRCm39)	V149A	probably benign	Het
Smndc1	T	A	19: 53,368,951 (GRCm39)	M221L	probably damaging	Het
Ssh2	A	G	11: 77,316,203 (GRCm39)	N275D	possibly damaging	Het
Tas2r124	C	T	6: 132,732,492 (GRCm39)	T267I	probably benign	Het
Thra	G	A	11: 98,651,715 (GRCm39)	R79H	probably damaging	Het
Tie1	T	C	4: 118,347,032 (GRCm39)		probably benign	Het
Umodl1	A	C	17: 31,217,152 (GRCm39)	Q1128P	possibly damaging	Het
Vps35	G	A	8: 86,010,633 (GRCm39)	R237C	probably benign	Het
Zfp78	T	A	7: 6,382,074 (GRCm39)	C343S	probably damaging	Het
Zfp85	A	G	13: 67,897,326 (GRCm39)	Y249H	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
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
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'- TCATCATCTGAGTCTGATAGCTC -3'
(R):5'- TTACCAGCACCGGTACTTGG -3'

Sequencing Primer
(F):5'- CATCTGAGTCTGATAGCTCTTCTAG -3'
(R):5'- TACTTGGAACTGCACGTCG -3'

Posted On

2022-09-12