Incidental Mutation 'R7002:Rtl1'
ID |
544618 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rtl1
|
Ensembl Gene |
ENSMUSG00000085925 |
Gene Name |
retrotransposon Gaglike 1 |
Synonyms |
Mart1, Mar, Mor1 |
MMRRC Submission |
045107-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7002 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
109555627-109566764 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 109560381 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 486
(Y486F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115957
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000149046]
|
AlphaFold |
Q7M732 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000149046
AA Change: Y486F
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000115957 Gene: ENSMUSG00000085925 AA Change: Y486F
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (73/73) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
A |
G |
11: 109,832,390 (GRCm39) |
S1308P |
probably damaging |
Het |
Abl2 |
A |
T |
1: 156,386,703 (GRCm39) |
R29W |
probably damaging |
Het |
Adam6b |
C |
A |
12: 113,453,327 (GRCm39) |
S48* |
probably null |
Het |
Adamts18 |
T |
A |
8: 114,501,922 (GRCm39) |
D313V |
possibly damaging |
Het |
Aoc1 |
A |
G |
6: 48,882,810 (GRCm39) |
S229G |
probably benign |
Het |
Apol10a |
G |
A |
15: 77,369,046 (GRCm39) |
R15H |
possibly damaging |
Het |
Bend4 |
T |
A |
5: 67,555,602 (GRCm39) |
T535S |
probably benign |
Het |
Blm |
T |
C |
7: 80,119,501 (GRCm39) |
K1024R |
probably benign |
Het |
Brca2 |
T |
C |
5: 150,463,383 (GRCm39) |
V1049A |
probably benign |
Het |
Cerk |
T |
C |
15: 86,040,795 (GRCm39) |
Y188C |
possibly damaging |
Het |
Cic |
C |
T |
7: 24,971,621 (GRCm39) |
R451C |
probably damaging |
Het |
Col18a1 |
A |
T |
10: 77,002,177 (GRCm39) |
V10E |
unknown |
Het |
Cplx1 |
T |
A |
5: 108,668,182 (GRCm39) |
K58M |
probably damaging |
Het |
Crybg1 |
T |
A |
10: 43,874,831 (GRCm39) |
D759V |
probably damaging |
Het |
Cwc25 |
A |
T |
11: 97,638,897 (GRCm39) |
N342K |
probably damaging |
Het |
Dab2 |
A |
T |
15: 6,464,846 (GRCm39) |
T566S |
probably benign |
Het |
Depdc5 |
G |
A |
5: 33,034,502 (GRCm39) |
|
probably null |
Het |
Dip2b |
T |
A |
15: 100,058,346 (GRCm39) |
N408K |
probably benign |
Het |
Dnah12 |
T |
C |
14: 26,598,955 (GRCm39) |
I3631T |
probably damaging |
Het |
Dnase1 |
A |
G |
16: 3,857,410 (GRCm39) |
I236V |
possibly damaging |
Het |
Duox1 |
C |
T |
2: 122,150,358 (GRCm39) |
Q196* |
probably null |
Het |
Eef2k |
G |
A |
7: 120,491,155 (GRCm39) |
R547Q |
probably benign |
Het |
Erich5 |
C |
T |
15: 34,471,508 (GRCm39) |
L246F |
probably damaging |
Het |
Frmpd1 |
C |
T |
4: 45,284,200 (GRCm39) |
A1007V |
probably benign |
Het |
Fsip2 |
T |
A |
2: 82,819,687 (GRCm39) |
I5140N |
possibly damaging |
Het |
Gan |
T |
C |
8: 117,922,586 (GRCm39) |
C440R |
possibly damaging |
Het |
Garnl3 |
T |
A |
2: 32,944,205 (GRCm39) |
H73L |
possibly damaging |
Het |
Gid8 |
T |
G |
2: 180,355,096 (GRCm39) |
M34R |
possibly damaging |
Het |
Gjd4 |
C |
A |
18: 9,280,960 (GRCm39) |
L39F |
possibly damaging |
Het |
Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
Grhpr |
T |
C |
4: 44,990,427 (GRCm39) |
S306P |
probably damaging |
Het |
H2bc21 |
A |
G |
3: 96,128,689 (GRCm39) |
I70V |
probably benign |
Het |
Hdac4 |
T |
G |
1: 91,896,083 (GRCm39) |
K729T |
possibly damaging |
Het |
Igfbp2 |
C |
T |
1: 72,888,804 (GRCm39) |
H85Y |
probably damaging |
Het |
Igkv4-61 |
T |
G |
6: 69,394,373 (GRCm39) |
I13L |
probably benign |
Het |
Il18r1 |
G |
A |
1: 40,514,013 (GRCm39) |
S73N |
probably benign |
Het |
Immt |
T |
C |
6: 71,838,024 (GRCm39) |
V244A |
probably damaging |
Het |
Irs1 |
T |
C |
1: 82,265,981 (GRCm39) |
Y745C |
probably benign |
Het |
Itpr3 |
T |
C |
17: 27,329,554 (GRCm39) |
V1526A |
probably benign |
Het |
Jrkl |
A |
T |
9: 13,245,526 (GRCm39) |
I45K |
probably damaging |
Het |
Lamp3 |
G |
T |
16: 19,474,172 (GRCm39) |
Q401K |
possibly damaging |
Het |
Lrrfip1 |
T |
A |
1: 91,043,180 (GRCm39) |
H528Q |
probably benign |
Het |
Ltn1 |
A |
T |
16: 87,220,361 (GRCm39) |
D245E |
probably benign |
Het |
Mmut |
T |
A |
17: 41,252,274 (GRCm39) |
I272N |
possibly damaging |
Het |
Mnat1 |
T |
C |
12: 73,277,479 (GRCm39) |
|
probably benign |
Het |
Mprip |
A |
C |
11: 59,652,016 (GRCm39) |
M1907L |
probably benign |
Het |
Nfu1 |
C |
A |
6: 86,993,254 (GRCm39) |
H131Q |
probably benign |
Het |
Nup188 |
T |
A |
2: 30,213,580 (GRCm39) |
S670R |
probably damaging |
Het |
Or5b120 |
A |
G |
19: 13,480,039 (GRCm39) |
N111D |
probably benign |
Het |
Or8k40 |
T |
C |
2: 86,585,025 (GRCm39) |
D19G |
probably benign |
Het |
Pals2 |
C |
T |
6: 50,139,642 (GRCm39) |
P116L |
probably benign |
Het |
Parp4 |
T |
A |
14: 56,839,861 (GRCm39) |
V523E |
probably damaging |
Het |
Pbrm1 |
T |
A |
14: 30,786,777 (GRCm39) |
D631E |
probably benign |
Het |
Prss40 |
A |
T |
1: 34,591,481 (GRCm39) |
|
probably null |
Het |
Rnf13 |
A |
G |
3: 57,741,033 (GRCm39) |
N274S |
probably damaging |
Het |
Sec14l3 |
A |
T |
11: 4,025,263 (GRCm39) |
H291L |
possibly damaging |
Het |
Senp5 |
A |
G |
16: 31,802,593 (GRCm39) |
S532P |
probably damaging |
Het |
Sepsecs |
T |
C |
5: 52,804,550 (GRCm39) |
|
probably null |
Het |
Serpina1e |
T |
C |
12: 103,914,338 (GRCm39) |
I329V |
probably benign |
Het |
Slc10a4-ps |
T |
A |
5: 72,743,763 (GRCm39) |
|
probably null |
Het |
Slc35f3 |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 127,115,773 (GRCm39) |
|
unknown |
Het |
Smc5 |
A |
G |
19: 23,209,247 (GRCm39) |
V639A |
probably benign |
Het |
Speg |
T |
A |
1: 75,399,912 (GRCm39) |
V2453E |
probably damaging |
Het |
Syt2 |
T |
A |
1: 134,671,842 (GRCm39) |
F207I |
probably damaging |
Het |
Tchp |
C |
T |
5: 114,846,857 (GRCm39) |
S48L |
probably benign |
Het |
Trim12a |
A |
G |
7: 103,953,383 (GRCm39) |
S243P |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,628,561 (GRCm39) |
E14533G |
probably damaging |
Het |
Vmn1r50 |
T |
A |
6: 90,084,819 (GRCm39) |
M188K |
probably benign |
Het |
Vps11 |
G |
A |
9: 44,266,376 (GRCm39) |
T437I |
probably damaging |
Het |
Xrn1 |
C |
T |
9: 95,929,843 (GRCm39) |
T1498I |
probably benign |
Het |
Zfp236 |
A |
G |
18: 82,709,701 (GRCm39) |
|
probably null |
Het |
Zfp316 |
T |
C |
5: 143,249,110 (GRCm39) |
D175G |
unknown |
Het |
Zmynd11 |
A |
G |
13: 9,744,366 (GRCm39) |
L256P |
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 |
|
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'- ATGTTGAACATGGCGTCTTCC -3'
(R):5'- AAGAAGTCGTGGCCACCATG -3'
Sequencing Primer
(F):5'- TCTTCCGCCACACGCAG -3'
(R):5'- ACCATGGGGAACGTCATCTC -3'
|
Posted On |
2019-05-13 |