Incidental Mutation 'R6616:Rtel1'
| ID |
524034 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rtel1
|
| Ensembl Gene |
ENSMUSG00000038685 |
| Gene Name |
regulator of telomere elongation helicase 1 |
| Synonyms |
|
| MMRRC Submission |
044739-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6616 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
180961532-180998409 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 180994579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 680
(E680K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116159
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048608]
[ENSMUST00000054622]
[ENSMUST00000098971]
[ENSMUST00000108814]
[ENSMUST00000108815]
[ENSMUST00000148252]
[ENSMUST00000170190]
|
| AlphaFold |
Q0VGM9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048608
AA Change: E864K
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000043563
Gene: ENSMUSG00000038685
AA Change: E864K
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
13 |
292 |
9.88e-3 |
SMART |
|
HELICc
|
563 |
717 |
1.07e-62 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054622
AA Change: E864K
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000053120
Gene: ENSMUSG00000038685
AA Change: E864K
| 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 benign
Transcript: ENSMUST00000098971
AA Change: E864K
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000096571
Gene: ENSMUSG00000038685
AA Change: E864K
| 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 benign
Transcript: ENSMUST00000108814
AA Change: E864K
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000104442
Gene: ENSMUSG00000038685
AA Change: E864K
| 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 benign
Transcript: ENSMUST00000108815
AA Change: E864K
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000104443
Gene: ENSMUSG00000038685
AA Change: E864K
| 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: ENSMUST00000124149
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125233
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000148252
AA Change: E680K
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000116159
Gene: ENSMUSG00000038685
AA Change: E680K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DEAD_2
|
1 |
88 |
1.3e-33 |
PFAM |
|
HELICc
|
379 |
533 |
1.07e-62 |
SMART |
|
low complexity region
|
858 |
875 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147266
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133856
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134651
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137700
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170190
|
| SMART Domains |
Protein: ENSMUSP00000126387
Gene: ENSMUSG00000038671
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Miro
|
1 |
90 |
1.2e-9 |
PFAM |
|
Pfam:Arf
|
1 |
140 |
8.5e-38 |
PFAM |
|
Pfam:Gtr1_RagA
|
2 |
110 |
2.2e-6 |
PFAM |
|
Pfam:SRPRB
|
4 |
118 |
6e-8 |
PFAM |
|
Pfam:Ras
|
4 |
142 |
2.7e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144648
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139608
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130772
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139601
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130935
|
| Meta Mutation Damage Score |
0.0795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
100% (51/51) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
A |
T |
17: 24,603,509 (GRCm39) |
H567L |
probably damaging |
Het |
| Adck1 |
T |
A |
12: 88,427,958 (GRCm39) |
M525K |
unknown |
Het |
| Alpi |
T |
C |
1: 87,028,836 (GRCm39) |
I74V |
possibly damaging |
Het |
| Ccdc168 |
C |
A |
1: 44,100,634 (GRCm39) |
V155L |
possibly damaging |
Het |
| Creb5 |
A |
C |
6: 53,662,295 (GRCm39) |
Q197H |
possibly damaging |
Het |
| Cyp2b13 |
A |
G |
7: 25,785,306 (GRCm39) |
K225R |
probably benign |
Het |
| Dock1 |
G |
A |
7: 134,710,221 (GRCm39) |
E1143K |
possibly damaging |
Het |
| Eef2kmt |
T |
A |
16: 5,065,346 (GRCm39) |
D287V |
probably damaging |
Het |
| Eif2ak4 |
T |
A |
2: 118,285,326 (GRCm39) |
Y1046* |
probably null |
Het |
| Fbxw10 |
T |
A |
11: 62,743,850 (GRCm39) |
M252K |
probably benign |
Het |
| Fnip2 |
A |
C |
3: 79,388,189 (GRCm39) |
H847Q |
probably benign |
Het |
| Frmd3 |
A |
T |
4: 74,105,725 (GRCm39) |
D457V |
probably damaging |
Het |
| Gm13941 |
T |
G |
2: 110,931,520 (GRCm39) |
E37D |
unknown |
Het |
| Grin1 |
T |
A |
2: 25,182,122 (GRCm39) |
I870F |
possibly damaging |
Het |
| Grin2b |
A |
C |
6: 135,709,549 (GRCm39) |
D1332E |
probably benign |
Het |
| Gtpbp4 |
G |
A |
13: 9,039,141 (GRCm39) |
T201I |
possibly damaging |
Het |
| Heatr4 |
A |
G |
12: 84,026,904 (GRCm39) |
C118R |
probably benign |
Het |
| Hltf |
T |
A |
3: 20,163,651 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
C |
T |
1: 150,599,008 (GRCm39) |
|
probably null |
Het |
| Hpd |
A |
T |
5: 123,310,123 (GRCm39) |
L367Q |
probably damaging |
Het |
| Htr1b |
A |
G |
9: 81,514,487 (GRCm39) |
I40T |
probably benign |
Het |
| Il16 |
A |
G |
7: 83,295,684 (GRCm39) |
S464P |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,589,643 (GRCm39) |
D75V |
unknown |
Het |
| Map3k4 |
A |
T |
17: 12,490,231 (GRCm39) |
L400Q |
probably damaging |
Het |
| Mcts2 |
T |
A |
2: 152,529,582 (GRCm39) |
I131N |
possibly damaging |
Het |
| Mroh2b |
A |
C |
15: 4,982,764 (GRCm39) |
I1528L |
probably benign |
Het |
| Muc4 |
A |
C |
16: 32,602,378 (GRCm39) |
D3467A |
possibly damaging |
Het |
| Mypn |
A |
T |
10: 63,005,091 (GRCm39) |
C339S |
probably damaging |
Het |
| Ncoa5 |
A |
T |
2: 164,852,483 (GRCm39) |
Y130* |
probably null |
Het |
| Or11g27 |
T |
A |
14: 50,771,364 (GRCm39) |
I165N |
probably benign |
Het |
| Or2y11 |
T |
A |
11: 49,442,868 (GRCm39) |
V98E |
probably damaging |
Het |
| Pcdha4 |
A |
G |
18: 37,086,953 (GRCm39) |
T379A |
probably benign |
Het |
| Pkp4 |
C |
G |
2: 59,180,896 (GRCm39) |
Y720* |
probably null |
Het |
| Prl5a1 |
C |
T |
13: 28,333,839 (GRCm39) |
T114I |
probably benign |
Het |
| Rnd3 |
A |
G |
2: 51,024,169 (GRCm39) |
S137P |
probably damaging |
Het |
| Sbsn |
T |
A |
7: 30,452,704 (GRCm39) |
V573D |
possibly damaging |
Het |
| Scaf8 |
A |
T |
17: 3,218,330 (GRCm39) |
L233F |
unknown |
Het |
| Sec23a |
A |
T |
12: 59,043,941 (GRCm39) |
I241K |
possibly damaging |
Het |
| Secisbp2l |
A |
T |
2: 125,610,146 (GRCm39) |
S258T |
probably damaging |
Het |
| Skint4 |
A |
G |
4: 111,975,427 (GRCm39) |
H121R |
possibly damaging |
Het |
| Sptbn1 |
T |
A |
11: 30,074,030 (GRCm39) |
E1346D |
probably benign |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Stpg4 |
A |
G |
17: 87,730,124 (GRCm39) |
Y74H |
probably damaging |
Het |
| Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
| Tmc4 |
A |
G |
7: 3,674,057 (GRCm39) |
V374A |
possibly damaging |
Het |
| Unc45b |
G |
A |
11: 82,802,645 (GRCm39) |
R47Q |
probably damaging |
Het |
| Xirp1 |
A |
G |
9: 119,848,080 (GRCm39) |
S268P |
probably damaging |
Het |
| Zfp990 |
A |
T |
4: 145,263,715 (GRCm39) |
I238L |
probably benign |
Het |
| Zswim5 |
A |
G |
4: 116,843,938 (GRCm39) |
D992G |
possibly damaging |
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 |
|
R5020:Rtel1
|
UTSW |
2 |
180,964,307 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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'- GGCCAAGGGGTATGACATAC -3'
(R):5'- CAGAGCTGCTCAACTCTAGC -3'
Sequencing Primer
(F):5'- CATCAGTGTTGCCATCAGAGTCAG -3'
(R):5'- TAGCCACACCCTTGTTTGGTTAGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation