Mutagenetix > Incidental Mutation

Incidental Mutation 'R9661:Rtl1'

727596

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 #

R9661 (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 T at 109557346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 1498 (P1498T)

Ref Sequence

ENSEMBL: ENSMUSP00000115957 (fasta)

Gene Model

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

AlphaFold

Q7M732

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149046
AA Change: P1498T

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115957
Gene: ENSMUSG00000085925
AA Change: P1498T

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	A	5: 138,645,451 (GRCm39)	H445Q	possibly damaging	Het
Aadacl4	C	A	4: 144,340,287 (GRCm39)	P4Q	probably damaging	Het
Adgre1	A	G	17: 57,748,368 (GRCm39)	T523A	possibly damaging	Het
Arhgap32	A	G	9: 32,168,531 (GRCm39)	E838G	probably benign	Het
Atad5	G	T	11: 79,980,542 (GRCm39)		probably benign	Het
Card10	C	T	15: 78,683,318 (GRCm39)	R275H	probably damaging	Het
Cdh16	A	G	8: 105,345,612 (GRCm39)	V327A	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Cttnbp2	T	A	6: 18,429,151 (GRCm39)	Q159L		Het
D630003M21Rik	A	G	2: 158,047,673 (GRCm39)	L732P	possibly damaging	Het
Dgcr8	T	C	16: 18,098,579 (GRCm39)	I308V	possibly damaging	Het
Dhx9	A	G	1: 153,340,393 (GRCm39)	F702L	probably damaging	Het
Dpy19l1	T	C	9: 24,386,730 (GRCm39)	Y188C	probably damaging	Het
Eea1	T	C	10: 95,862,742 (GRCm39)	L888S	probably benign	Het
Elmo1	T	C	13: 20,469,531 (GRCm39)		probably null	Het
Fam186a	T	A	15: 99,842,492 (GRCm39)	I1251F	possibly damaging	Het
Fer1l4	G	A	2: 155,862,336 (GRCm39)	A1779V	probably damaging	Het
Fgfrl1	C	T	5: 108,853,841 (GRCm39)	T407I	probably benign	Het
Gkn1	T	C	6: 87,325,173 (GRCm39)	K79E	probably damaging	Het
Gm11564	C	T	11: 99,706,247 (GRCm39)	R61H	unknown	Het
Gpr107	T	C	2: 31,057,075 (GRCm39)	F56L	probably benign	Het
H2-T22	T	C	17: 36,353,371 (GRCm39)		probably benign	Het
Hs1bp3	T	C	12: 8,367,940 (GRCm39)	V63A	probably damaging	Het
Htr6	A	G	4: 138,801,963 (GRCm39)	I37T	probably damaging	Het
Kifc5b	T	C	17: 27,140,836 (GRCm39)		probably null	Het
Lrfn2	T	C	17: 49,403,650 (GRCm39)	I591T	probably benign	Het
Lrrc49	A	T	9: 60,573,582 (GRCm39)	I300N	probably damaging	Het
Lyst	A	G	13: 13,808,779 (GRCm39)	T150A	probably benign	Het
Myh11	T	C	16: 14,041,857 (GRCm39)	Q722R		Het
Nek9	T	C	12: 85,361,253 (GRCm39)	Q484R	possibly damaging	Het
Nfs1	A	T	2: 155,970,473 (GRCm39)	V280E	probably damaging	Het
Notch3	T	A	17: 32,373,792 (GRCm39)	D472V	probably damaging	Het
Nt5c1b	T	C	12: 10,425,450 (GRCm39)	V273A	probably damaging	Het
Nudt12	T	C	17: 59,316,981 (GRCm39)	D222G	probably benign	Het
Nup98	G	A	7: 101,782,019 (GRCm39)	Q1204*	probably null	Het
Nwd2	A	T	5: 63,957,780 (GRCm39)	Y370F	probably damaging	Het
Oas3	A	T	5: 120,904,230 (GRCm39)	I548N	unknown	Het
Ogfr	A	T	2: 180,233,431 (GRCm39)	N78Y	probably damaging	Het
Or10ak11	A	T	4: 118,687,526 (GRCm39)	L36Q	probably benign	Het
Prkcq	A	T	2: 11,250,141 (GRCm39)	K153*	probably null	Het
Ptpdc1	T	A	13: 48,739,610 (GRCm39)	N607I	probably benign	Het
Rab5c	G	T	11: 100,606,917 (GRCm39)	Q221K	probably benign	Het
Ret	G	A	6: 118,150,437 (GRCm39)	T693I	probably benign	Het
Rnf20	A	G	4: 49,654,556 (GRCm39)	E871G	probably damaging	Het
Septin9	C	G	11: 117,245,751 (GRCm39)	R458G	possibly damaging	Het
Sh2d2a	T	C	3: 87,756,788 (GRCm39)		probably null	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc16a4	T	A	3: 107,213,359 (GRCm39)	D451E	probably benign	Het
Slc36a3	A	G	11: 55,015,984 (GRCm39)	F390S	probably benign	Het
Slc4a2	T	A	5: 24,640,005 (GRCm39)	M576K	probably damaging	Het
Smim14	T	C	5: 65,610,533 (GRCm39)	H88R	possibly damaging	Het
Spata31e5	G	T	1: 28,816,536 (GRCm39)	H499N	probably benign	Het
Sspo	C	T	6: 48,455,272 (GRCm39)	Q3045*	probably null	Het
Supt7l	C	A	5: 31,680,403 (GRCm39)	R3M	probably damaging	Het
Tjap1	A	G	17: 46,571,092 (GRCm39)	W132R	probably damaging	Het
Tmem26	T	A	10: 68,559,838 (GRCm39)	W37R	probably damaging	Het
Tut7	T	C	13: 59,937,332 (GRCm39)	D1155G	probably damaging	Het
Vmn1r119	C	T	7: 20,746,224 (GRCm39)	V53M	possibly damaging	Het
Vmn2r54	A	T	7: 12,349,166 (GRCm39)	N805K	probably benign	Het
Zfp638	T	C	6: 83,923,320 (GRCm39)	V706A	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
R9615:Rtl1	UTSW	12	109,556,835 (GRCm39)	missense	possibly damaging	0.65
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'- ATTCCGATGCCAGCACCT -3'
(R):5'- ATGAGGAGGTGCCCAGCAT -3'

Sequencing Primer
(F):5'- TTGGGCCCAGGAAAAGCTC -3'
(R):5'- GGTGCCCAGCATGGTGC -3'

Posted On

2022-10-06