Incidental Mutation 'R5020:Rtel1'
| ID |
389121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rtel1
|
| Ensembl Gene |
ENSMUSG00000038685 |
| Gene Name |
regulator of telomere elongation helicase 1 |
| Synonyms |
|
| MMRRC Submission |
042611-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5020 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
180961532-180998409 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 180964307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048608]
[ENSMUST00000054622]
[ENSMUST00000098971]
[ENSMUST00000108814]
[ENSMUST00000108815]
[ENSMUST00000153112]
[ENSMUST00000153112]
|
| AlphaFold |
Q0VGM9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000048608
|
| SMART Domains |
Protein: ENSMUSP00000043563
Gene: ENSMUSG00000038685
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
13 |
292 |
9.88e-3 |
SMART |
|
HELICc
|
563 |
717 |
1.07e-62 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000054622
|
| SMART Domains |
Protein: ENSMUSP00000053120
Gene: ENSMUSG00000038685
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
13 |
292 |
9.88e-3 |
SMART |
|
HELICc
|
563 |
717 |
1.07e-62 |
SMART |
|
low complexity region
|
1075 |
1092 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000098971
|
| SMART Domains |
Protein: ENSMUSP00000096571
Gene: ENSMUSG00000038685
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
13 |
292 |
9.88e-3 |
SMART |
|
HELICc
|
563 |
717 |
1.07e-62 |
SMART |
|
low complexity region
|
1036 |
1053 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108814
|
| SMART Domains |
Protein: ENSMUSP00000104442
Gene: ENSMUSG00000038685
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
13 |
292 |
9.88e-3 |
SMART |
|
HELICc
|
563 |
717 |
1.07e-62 |
SMART |
|
low complexity region
|
1069 |
1086 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108815
|
| SMART Domains |
Protein: ENSMUSP00000104443
Gene: ENSMUSG00000038685
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
13 |
292 |
9.88e-3 |
SMART |
|
HELICc
|
563 |
717 |
1.07e-62 |
SMART |
|
low complexity region
|
1030 |
1047 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139608
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146273
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000153112
|
| SMART Domains |
Protein: ENSMUSP00000118810
Gene: ENSMUSG00000038685
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ResIII
|
14 |
101 |
1.8e-7 |
PFAM |
|
Pfam:DEAD_2
|
111 |
161 |
3.3e-16 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000153112
|
| SMART Domains |
Protein: ENSMUSP00000118810
Gene: ENSMUSG00000038685
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ResIII
|
14 |
101 |
1.8e-7 |
PFAM |
|
Pfam:DEAD_2
|
111 |
161 |
3.3e-16 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
99% (72/73) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]
PHENOTYPE: Homozygous null mice display embryonic lethality with abnormal development of the neural tube, brain, heart, vasculature, placenta, and allantois and chromosomal abnormalities in differentiating cells. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(33) : Targeted(5) Gene trapped(28)
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadsb |
A |
T |
7: 131,042,929 (GRCm39) |
|
probably null |
Het |
| Actl6a |
A |
G |
3: 32,774,656 (GRCm39) |
I340V |
possibly damaging |
Het |
| Alppl2 |
C |
T |
1: 87,017,431 (GRCm39) |
V19I |
probably benign |
Het |
| Ankrd34c |
T |
C |
9: 89,611,759 (GRCm39) |
K194R |
probably benign |
Het |
| Anpep |
T |
A |
7: 79,483,475 (GRCm39) |
M672L |
probably benign |
Het |
| Arhgap31 |
T |
C |
16: 38,423,438 (GRCm39) |
D876G |
probably damaging |
Het |
| Arid2 |
T |
A |
15: 96,269,869 (GRCm39) |
N1327K |
probably damaging |
Het |
| Atp5f1d |
C |
A |
10: 79,981,263 (GRCm39) |
P101Q |
probably benign |
Het |
| Bcl7b |
G |
A |
5: 135,200,017 (GRCm39) |
|
probably null |
Het |
| Brca2 |
A |
T |
5: 150,483,901 (GRCm39) |
S2907C |
probably damaging |
Het |
| Ccser2 |
T |
C |
14: 36,662,134 (GRCm39) |
E350G |
probably benign |
Het |
| Cdh23 |
G |
T |
10: 60,143,811 (GRCm39) |
D2929E |
probably damaging |
Het |
| Clec2i |
T |
A |
6: 128,870,621 (GRCm39) |
V78E |
probably benign |
Het |
| Cpxm1 |
A |
T |
2: 130,237,897 (GRCm39) |
|
probably null |
Het |
| Crybg3 |
C |
T |
16: 59,375,159 (GRCm39) |
V2032I |
possibly damaging |
Het |
| Eif5b |
A |
T |
1: 38,058,150 (GRCm39) |
K151* |
probably null |
Het |
| Gemin7 |
T |
A |
7: 19,299,348 (GRCm39) |
E82D |
possibly damaging |
Het |
| Gm14496 |
A |
G |
2: 181,633,152 (GRCm39) |
E45G |
possibly damaging |
Het |
| Gm21915 |
T |
C |
9: 40,581,966 (GRCm39) |
S20P |
probably damaging |
Het |
| Gm8126 |
A |
C |
14: 43,119,026 (GRCm39) |
E165A |
probably damaging |
Het |
| Grin2b |
T |
C |
6: 135,710,405 (GRCm39) |
D1047G |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Ikbke |
T |
A |
1: 131,201,397 (GRCm39) |
Y150F |
probably damaging |
Het |
| Inhca |
T |
C |
9: 103,159,701 (GRCm39) |
D70G |
probably benign |
Het |
| Itih5 |
T |
A |
2: 10,245,315 (GRCm39) |
|
probably null |
Het |
| Lrig2 |
T |
C |
3: 104,365,217 (GRCm39) |
Q645R |
possibly damaging |
Het |
| Map4 |
A |
G |
9: 109,897,868 (GRCm39) |
M712V |
probably benign |
Het |
| Mecom |
A |
G |
3: 30,015,255 (GRCm39) |
S823P |
probably damaging |
Het |
| Mettl25 |
A |
G |
10: 105,662,068 (GRCm39) |
Y301H |
possibly damaging |
Het |
| Mga |
A |
T |
2: 119,781,654 (GRCm39) |
K2136* |
probably null |
Het |
| Mmp24 |
A |
G |
2: 155,652,204 (GRCm39) |
E304G |
probably benign |
Het |
| Mmp3 |
T |
A |
9: 7,445,984 (GRCm39) |
D29E |
probably benign |
Het |
| Nbas |
T |
A |
12: 13,424,713 (GRCm39) |
I984N |
probably damaging |
Het |
| Nedd9 |
A |
G |
13: 41,469,270 (GRCm39) |
Y628H |
probably damaging |
Het |
| Nlrp2 |
C |
T |
7: 5,331,076 (GRCm39) |
C440Y |
probably damaging |
Het |
| Or4g16 |
T |
C |
2: 111,136,637 (GRCm39) |
V29A |
probably benign |
Het |
| Or6p1 |
T |
G |
1: 174,258,237 (GRCm39) |
L81R |
probably damaging |
Het |
| P4ha2 |
T |
C |
11: 54,022,016 (GRCm39) |
V513A |
probably damaging |
Het |
| Pcsk4 |
T |
C |
10: 80,161,869 (GRCm39) |
N124S |
probably benign |
Het |
| Phf12 |
T |
C |
11: 77,914,622 (GRCm39) |
F139S |
probably damaging |
Het |
| Phlpp2 |
T |
A |
8: 110,666,714 (GRCm39) |
L1081H |
probably damaging |
Het |
| Phospho2 |
T |
A |
2: 69,626,323 (GRCm39) |
F160I |
probably damaging |
Het |
| Plch2 |
T |
G |
4: 155,091,540 (GRCm39) |
D115A |
probably damaging |
Het |
| Plekho1 |
A |
G |
3: 95,896,851 (GRCm39) |
F215S |
probably damaging |
Het |
| Psma4 |
C |
A |
9: 54,860,056 (GRCm39) |
A47E |
probably damaging |
Het |
| Rasa4 |
A |
C |
5: 136,130,153 (GRCm39) |
Q303P |
probably damaging |
Het |
| Rbmxl2 |
C |
T |
7: 106,809,414 (GRCm39) |
P233L |
probably damaging |
Het |
| Reln |
A |
T |
5: 22,239,636 (GRCm39) |
L877H |
probably damaging |
Het |
| Septin12 |
T |
C |
16: 4,811,620 (GRCm39) |
D116G |
probably damaging |
Het |
| Son |
T |
A |
16: 91,453,263 (GRCm39) |
V670E |
probably damaging |
Het |
| Spag9 |
T |
A |
11: 93,988,612 (GRCm39) |
I544N |
probably benign |
Het |
| Spsb3 |
T |
G |
17: 25,106,036 (GRCm39) |
|
probably benign |
Het |
| Tcstv2c |
T |
C |
13: 120,616,652 (GRCm39) |
F164L |
possibly damaging |
Het |
| Tgfbr3 |
T |
C |
5: 107,362,836 (GRCm39) |
T59A |
probably damaging |
Het |
| Tsc1 |
T |
A |
2: 28,566,531 (GRCm39) |
I649K |
probably damaging |
Het |
| Txndc9 |
T |
C |
1: 38,034,793 (GRCm39) |
D37G |
probably benign |
Het |
| Uba7 |
C |
T |
9: 107,856,113 (GRCm39) |
A496V |
probably benign |
Het |
| Usf3 |
T |
A |
16: 44,035,889 (GRCm39) |
I123N |
probably damaging |
Het |
| Vmn1r184 |
T |
A |
7: 25,966,955 (GRCm39) |
S234T |
possibly damaging |
Het |
| Vsig10l |
C |
A |
7: 43,114,741 (GRCm39) |
S314* |
probably null |
Het |
| Wdfy4 |
A |
G |
14: 32,801,892 (GRCm39) |
F1922S |
probably damaging |
Het |
| Zfp219 |
C |
T |
14: 52,247,112 (GRCm39) |
R5H |
probably damaging |
Het |
| Zfp946 |
G |
T |
17: 22,674,584 (GRCm39) |
C446F |
probably benign |
Het |
|
| Other mutations in Rtel1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01420:Rtel1
|
APN |
2 |
180,996,194 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01957:Rtel1
|
APN |
2 |
180,991,106 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02247:Rtel1
|
APN |
2 |
180,993,134 (GRCm39) |
nonsense |
probably null |
|
|
IGL02414:Rtel1
|
APN |
2 |
180,977,765 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02448:Rtel1
|
APN |
2 |
180,977,830 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03053:Rtel1
|
APN |
2 |
180,993,737 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03059:Rtel1
|
APN |
2 |
180,991,976 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03326:Rtel1
|
APN |
2 |
180,997,354 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4283001:Rtel1
|
UTSW |
2 |
180,988,683 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0047:Rtel1
|
UTSW |
2 |
180,965,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0047:Rtel1
|
UTSW |
2 |
180,965,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0051:Rtel1
|
UTSW |
2 |
180,992,449 (GRCm39) |
nonsense |
probably null |
|
|
R0051:Rtel1
|
UTSW |
2 |
180,992,449 (GRCm39) |
nonsense |
probably null |
|
|
R0147:Rtel1
|
UTSW |
2 |
180,962,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0148:Rtel1
|
UTSW |
2 |
180,962,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0316:Rtel1
|
UTSW |
2 |
180,997,795 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0628:Rtel1
|
UTSW |
2 |
180,993,674 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0940:Rtel1
|
UTSW |
2 |
180,964,596 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1165:Rtel1
|
UTSW |
2 |
180,976,732 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1213:Rtel1
|
UTSW |
2 |
180,993,128 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1291:Rtel1
|
UTSW |
2 |
180,992,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1353:Rtel1
|
UTSW |
2 |
180,991,024 (GRCm39) |
missense |
probably benign |
|
|
R1398:Rtel1
|
UTSW |
2 |
180,977,658 (GRCm39) |
splice site |
probably null |
|
|
R1796:Rtel1
|
UTSW |
2 |
180,993,896 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1973:Rtel1
|
UTSW |
2 |
180,993,419 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2033:Rtel1
|
UTSW |
2 |
180,993,656 (GRCm39) |
nonsense |
probably null |
|
|
R2144:Rtel1
|
UTSW |
2 |
180,965,499 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2265:Rtel1
|
UTSW |
2 |
180,996,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2269:Rtel1
|
UTSW |
2 |
180,977,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2416:Rtel1
|
UTSW |
2 |
180,982,324 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2865:Rtel1
|
UTSW |
2 |
180,991,765 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3508:Rtel1
|
UTSW |
2 |
180,964,202 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4242:Rtel1
|
UTSW |
2 |
180,991,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4377:Rtel1
|
UTSW |
2 |
180,997,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4702:Rtel1
|
UTSW |
2 |
180,993,962 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4706:Rtel1
|
UTSW |
2 |
180,965,539 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4817:Rtel1
|
UTSW |
2 |
180,997,728 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5069:Rtel1
|
UTSW |
2 |
180,997,285 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5222:Rtel1
|
UTSW |
2 |
180,988,776 (GRCm39) |
intron |
probably benign |
|
|
R5268:Rtel1
|
UTSW |
2 |
180,982,354 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5291:Rtel1
|
UTSW |
2 |
180,993,888 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5588:Rtel1
|
UTSW |
2 |
180,993,893 (GRCm39) |
missense |
probably benign |
|
|
R5682:Rtel1
|
UTSW |
2 |
180,991,765 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5796:Rtel1
|
UTSW |
2 |
180,982,299 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5931:Rtel1
|
UTSW |
2 |
180,972,608 (GRCm39) |
nonsense |
probably null |
|
|
R6249:Rtel1
|
UTSW |
2 |
180,993,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6465:Rtel1
|
UTSW |
2 |
180,977,733 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6616:Rtel1
|
UTSW |
2 |
180,994,579 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6800:Rtel1
|
UTSW |
2 |
180,964,256 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6835:Rtel1
|
UTSW |
2 |
180,997,746 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6917:Rtel1
|
UTSW |
2 |
180,980,070 (GRCm39) |
makesense |
probably null |
|
|
R7264:Rtel1
|
UTSW |
2 |
180,993,654 (GRCm39) |
missense |
not run |
|
|
R7381:Rtel1
|
UTSW |
2 |
180,972,608 (GRCm39) |
nonsense |
probably null |
|
|
R7523:Rtel1
|
UTSW |
2 |
180,964,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7587:Rtel1
|
UTSW |
2 |
180,964,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7681:Rtel1
|
UTSW |
2 |
180,964,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7871:Rtel1
|
UTSW |
2 |
180,962,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7912:Rtel1
|
UTSW |
2 |
180,997,869 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8007:Rtel1
|
UTSW |
2 |
180,976,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8062:Rtel1
|
UTSW |
2 |
180,982,360 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8088:Rtel1
|
UTSW |
2 |
180,964,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8435:Rtel1
|
UTSW |
2 |
180,995,897 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8873:Rtel1
|
UTSW |
2 |
180,997,816 (GRCm39) |
frame shift |
probably null |
|
|
R9441:Rtel1
|
UTSW |
2 |
180,988,860 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9704:Rtel1
|
UTSW |
2 |
180,993,905 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTGACACCAATTAGAAAGTG -3'
(R):5'- TGACTCTGACCCCAGGTATATACC -3'
Sequencing Primer
(F):5'- TGAATGGCATCCTGGAGAGCC -3'
(R):5'- CCCAAAATGGTGAGGAATATAGATG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation