Mutagenetix > Incidental Mutation

Incidental Mutation 'R8193:Rtl1'

635310

Institutional Source

Beutler Lab

Gene Symbol

Rtl1

Ensembl Gene

ENSMUSG00000085925

Gene Name

retrotransposon Gaglike 1

Synonyms

Mart1, Mar, Mor1

MMRRC Submission

067616-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8193 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109555627-109566764 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109558650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1063 (V1063A)

Ref Sequence

ENSEMBL: ENSMUSP00000115957 (fasta)

Gene Model

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

AlphaFold

Q7M732

Predicted Effect

probably benign
Transcript: ENSMUST00000149046
AA Change: V1063A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000115957
Gene: ENSMUSG00000085925
AA Change: V1063A

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: 99.5%
20x: 98.4%

Validation Efficiency

98% (62/63)

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
1700006A11Rik	A	T	3: 124,213,517 (GRCm39)	V48E	possibly damaging	Het
4930522H14Rik	A	G	4: 109,381,529 (GRCm39)	L83S	probably benign	Het
Abhd18	C	A	3: 40,884,660 (GRCm39)	T233K	probably benign	Het
Adam26a	A	T	8: 44,022,273 (GRCm39)	C406S	probably damaging	Het
Anp32e	G	A	3: 95,836,710 (GRCm39)		probably benign	Het
Cd33	C	T	7: 43,181,696 (GRCm39)	A155T	possibly damaging	Het
Cdc25c	A	T	18: 34,882,675 (GRCm39)		probably null	Het
Cep350	A	G	1: 155,737,825 (GRCm39)	S2673P	probably benign	Het
Chodl	T	C	16: 78,738,412 (GRCm39)	S127P	probably damaging	Het
Clstn2	A	G	9: 97,465,683 (GRCm39)	S103P	probably damaging	Het
Crocc2	T	A	1: 93,117,888 (GRCm39)		probably null	Het
Cyp24a1	A	G	2: 170,327,622 (GRCm39)	L507P	probably damaging	Het
Dcbld2	T	A	16: 58,284,373 (GRCm39)		probably null	Het
Dnah14	T	C	1: 181,515,770 (GRCm39)	Y1991H	probably damaging	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Edrf1	C	T	7: 133,263,606 (GRCm39)	T971I	possibly damaging	Het
Ermap	A	G	4: 119,041,140 (GRCm39)	I290T	possibly damaging	Het
Eva1a	A	T	6: 82,068,921 (GRCm39)	S83C	probably benign	Het
Fcgbp	A	T	7: 27,804,276 (GRCm39)	N1795Y	probably damaging	Het
Foxg1	A	G	12: 49,432,377 (GRCm39)	H370R	possibly damaging	Het
Gabra1	A	G	11: 42,037,968 (GRCm39)	Y217H	probably damaging	Het
Gm3086	A	G	12: 70,016,264 (GRCm39)	N62S	noncoding transcript	Het
Hmcn1	A	T	1: 150,453,228 (GRCm39)	Y5362*	probably null	Het
Igkv5-37	C	A	6: 69,940,796 (GRCm39)		probably benign	Het
Ints3	A	G	3: 90,307,929 (GRCm39)	V647A	possibly damaging	Het
Itga1	A	G	13: 115,104,991 (GRCm39)		probably null	Het
Limk2	T	C	11: 3,297,691 (GRCm39)	K481E	possibly damaging	Het
Lonp2	G	T	8: 87,358,091 (GRCm39)	G104V	probably damaging	Het
Lpar5	T	C	6: 125,058,302 (GRCm39)	S8P	probably benign	Het
Map2k7	T	C	8: 4,294,059 (GRCm39)	F202L	probably benign	Het
Mark1	T	G	1: 184,660,249 (GRCm39)	M136L	probably damaging	Het
Myo15b	T	C	11: 115,775,973 (GRCm39)	S590P	probably damaging	Het
Nbas	T	C	12: 13,483,010 (GRCm39)	V1429A	probably damaging	Het
Nbeal1	T	A	1: 60,292,640 (GRCm39)	Y1097*	probably null	Het
Ncf4	T	C	15: 78,146,466 (GRCm39)	S299P	probably damaging	Het
Nfkbiz	T	C	16: 55,642,214 (GRCm39)	D68G	probably damaging	Het
Nomo1	T	C	7: 45,692,037 (GRCm39)	S154P	possibly damaging	Het
Nrp1	G	T	8: 129,187,187 (GRCm39)	W411L	probably damaging	Het
Or10d1b	T	C	9: 39,613,498 (GRCm39)	D189G	possibly damaging	Het
Or4c105	T	A	2: 88,647,803 (GRCm39)	M96K	probably damaging	Het
Or5t18	T	G	2: 86,637,209 (GRCm39)	I45L	noncoding transcript	Het
Or8g2b	T	C	9: 39,750,757 (GRCm39)	I9T	probably benign	Het
Or9g4b	T	C	2: 85,616,305 (GRCm39)	V150A	probably benign	Het
Pcsk5	A	G	19: 17,563,415 (GRCm39)	V574A	possibly damaging	Het
Prex1	C	A	2: 166,435,780 (GRCm39)	R589L	possibly damaging	Het
Prl7d1	A	G	13: 27,893,230 (GRCm39)	V227A		Het
Prpf40b	T	A	15: 99,201,949 (GRCm39)	F16I	unknown	Het
Rasa2	G	A	9: 96,484,791 (GRCm39)	P141L	probably damaging	Het
Sema4d	A	T	13: 51,859,192 (GRCm39)	C512*	probably null	Het
Slc19a2	A	G	1: 164,084,794 (GRCm39)	N228S	probably benign	Het
Tcf4	A	T	18: 69,633,994 (GRCm39)		probably benign	Het
Tnks2	T	C	19: 36,832,353 (GRCm39)	V264A	possibly damaging	Het
Ugt2b35	T	A	5: 87,149,302 (GRCm39)	S184R	probably damaging	Het
Usp53	T	C	3: 122,741,012 (GRCm39)	E746G	probably benign	Het
Utp18	T	C	11: 93,766,903 (GRCm39)	D268G	probably damaging	Het
Vmn1r172	T	A	7: 23,359,752 (GRCm39)	Y212*	probably null	Het
Vmn2r100	T	A	17: 19,725,102 (GRCm39)	C10*	probably null	Het
Vmn2r113	G	T	17: 23,164,501 (GRCm39)	V135F	probably benign	Het
Vps54	T	C	11: 21,242,045 (GRCm39)	F387L	probably benign	Het
Xab2	A	C	8: 3,663,389 (GRCm39)	D450E	probably benign	Het
Zfp408	G	T	2: 91,475,361 (GRCm39)	R598S	probably benign	Het
Zfp788	T	A	7: 41,298,038 (GRCm39)	C225S	probably benign	Het
Zfp944	T	A	17: 22,558,861 (GRCm39)	K129*	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
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
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'- ATAGAGAACGGGCGACTTGC -3'
(R):5'- AGGTCCTGGTCTACTCAATGAGC -3'

Sequencing Primer
(F):5'- GCGGAAAGCCCTCTTCAG -3'
(R):5'- CTGGTCTACTCAATGAGCCAGGAG -3'

Posted On

2020-07-13