Incidental Mutation 'R5268:Rtel1'
ID 399881
Institutional Source Beutler Lab
Gene Symbol Rtel1
Ensembl Gene ENSMUSG00000038685
Gene Name regulator of telomere elongation helicase 1
Synonyms
MMRRC Submission 042860-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5268 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 180961532-180998409 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 180982354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 368 (S368L)
Ref Sequence ENSEMBL: ENSMUSP00000104443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048608] [ENSMUST00000054622] [ENSMUST00000098971] [ENSMUST00000108814] [ENSMUST00000108815] [ENSMUST00000148252]
AlphaFold Q0VGM9
Predicted Effect probably benign
Transcript: ENSMUST00000048608
AA Change: S368L

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000043563
Gene: ENSMUSG00000038685
AA Change: S368L

DomainStartEndE-ValueType
DEXDc 13 292 9.88e-3 SMART
HELICc 563 717 1.07e-62 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000054622
AA Change: S368L

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000053120
Gene: ENSMUSG00000038685
AA Change: S368L

DomainStartEndE-ValueType
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: S368L

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000096571
Gene: ENSMUSG00000038685
AA Change: S368L

DomainStartEndE-ValueType
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: S368L

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000104442
Gene: ENSMUSG00000038685
AA Change: S368L

DomainStartEndE-ValueType
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: S368L

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000104443
Gene: ENSMUSG00000038685
AA Change: S368L

DomainStartEndE-ValueType
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: ENSMUST00000126842
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139608
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146273
Predicted Effect probably benign
Transcript: ENSMUST00000148252
AA Change: S184L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000116159
Gene: ENSMUSG00000038685
AA Change: S184L

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000184751
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A G 3: 59,659,444 (GRCm39) E299G probably damaging Het
Adamtsl4 C A 3: 95,587,473 (GRCm39) R701L probably damaging Het
Adgrf5 T C 17: 43,761,890 (GRCm39) V1195A probably damaging Het
Agpat5 A G 8: 18,931,878 (GRCm39) T333A possibly damaging Het
Aspm G T 1: 139,392,033 (GRCm39) G795C probably damaging Het
Car4 C A 11: 84,856,626 (GRCm39) Q305K probably benign Het
Catsperg1 T C 7: 28,894,672 (GRCm39) N612S probably benign Het
Cdc5l G A 17: 45,726,511 (GRCm39) R354W probably damaging Het
Cdh9 G A 15: 16,851,099 (GRCm39) V623I probably benign Het
Cfap65 A G 1: 74,964,061 (GRCm39) V629A probably benign Het
Chd1 G A 17: 15,956,005 (GRCm39) V535I probably damaging Het
Col12a1 A G 9: 79,585,329 (GRCm39) V1316A probably damaging Het
Col6a3 A T 1: 90,712,965 (GRCm39) D1721E unknown Het
Cop1 T A 1: 159,154,734 (GRCm39) F647L probably damaging Het
Corin A C 5: 72,500,362 (GRCm39) S421A probably damaging Het
Crb2 T C 2: 37,680,833 (GRCm39) V587A probably damaging Het
Ctc1 T A 11: 68,920,636 (GRCm39) V646E possibly damaging Het
Cyp2a12 A T 7: 26,730,643 (GRCm39) M203L probably benign Het
Dcdc2c T A 12: 28,566,656 (GRCm39) K336M possibly damaging Het
Ddx39a G A 8: 84,448,950 (GRCm39) R275H probably benign Het
Dennd2b A G 7: 109,156,519 (GRCm39) L77P probably benign Het
Des A G 1: 75,339,572 (GRCm39) N310S possibly damaging Het
Dlk1 C A 12: 109,425,764 (GRCm39) S212R probably benign Het
Dnajc5b A G 3: 19,633,224 (GRCm39) E149G probably benign Het
Dpep1 A T 8: 123,920,828 (GRCm39) I3F probably benign Het
Eml6 T A 11: 29,753,108 (GRCm39) R934S probably benign Het
Ercc6l2 T C 13: 64,016,925 (GRCm39) L676P possibly damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Frem2 T A 3: 53,560,575 (GRCm39) I1311F probably damaging Het
Gldc T A 19: 30,123,125 (GRCm39) M257L probably damaging Het
Gm8674 T G 13: 50,055,390 (GRCm39) noncoding transcript Het
Gnai3 C T 3: 108,030,857 (GRCm39) probably null Het
Gtf3a A G 5: 146,891,965 (GRCm39) D300G probably damaging Het
Haus3 A T 5: 34,323,449 (GRCm39) V387D probably damaging Het
Hpf1 T A 8: 61,346,768 (GRCm39) F28I possibly damaging Het
Iars1 A G 13: 49,843,967 (GRCm39) D147G probably damaging Het
Ibtk A T 9: 85,625,743 (GRCm39) D2E probably benign Het
Ift140 T A 17: 25,239,601 (GRCm39) I86K possibly damaging Het
Igf2bp2 T A 16: 21,898,241 (GRCm39) I235F probably damaging Het
Ighv3-8 G T 12: 114,286,252 (GRCm39) A30E probably benign Het
Kcnq5 T A 1: 21,575,949 (GRCm39) T252S probably damaging Het
Lrrc4b A T 7: 44,110,787 (GRCm39) N220Y probably damaging Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Mamdc4 T C 2: 25,454,702 (GRCm39) T1037A possibly damaging Het
Mbd5 A T 2: 49,162,106 (GRCm39) I863F possibly damaging Het
Muc4 T A 16: 32,570,484 (GRCm39) S515T possibly damaging Het
Mylk4 T A 13: 32,892,864 (GRCm39) probably null Het
Neu4 G A 1: 93,952,669 (GRCm39) R346H probably benign Het
Nxpe5 T A 5: 138,238,200 (GRCm39) Y253* probably null Het
Olfml2b A T 1: 170,477,330 (GRCm39) E155V probably damaging Het
Or14a258 A G 7: 86,034,867 (GRCm39) *334Q probably null Het
Or6a2 T A 7: 106,600,111 (GRCm39) N319Y probably benign Het
Or8a1b T A 9: 37,623,300 (GRCm39) I92F probably damaging Het
Pamr1 G A 2: 102,417,029 (GRCm39) A114T probably damaging Het
Pdzd2 T A 15: 12,592,263 (GRCm39) N127I probably damaging Het
Pglyrp4 C T 3: 90,634,271 (GRCm39) L5F probably damaging Het
Plce1 T A 19: 38,747,279 (GRCm39) S1667T possibly damaging Het
Qser1 A T 2: 104,617,776 (GRCm39) V1012E possibly damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Rcn3 A T 7: 44,736,203 (GRCm39) D168E probably damaging Het
Rdh1 T G 10: 127,595,832 (GRCm39) V9G possibly damaging Het
Rin2 A G 2: 145,686,680 (GRCm39) T70A probably benign Het
Rnf207 T C 4: 152,398,346 (GRCm39) D276G probably damaging Het
Slc15a5 C A 6: 138,056,751 (GRCm39) C55F probably damaging Het
Slc36a4 T C 9: 15,638,212 (GRCm39) F213L possibly damaging Het
Snhg16 G T 11: 116,562,582 (GRCm39) M18I probably benign Het
Spata25 C T 2: 164,669,954 (GRCm39) G19D probably damaging Het
Tas2r102 A T 6: 132,739,360 (GRCm39) L89F probably damaging Het
Tbc1d1 A G 5: 64,481,910 (GRCm39) K704E probably damaging Het
Tert T G 13: 73,775,473 (GRCm39) S75A probably damaging Het
Tiparp T A 3: 65,454,986 (GRCm39) L195Q possibly damaging Het
Tmem205 A C 9: 21,837,380 (GRCm39) Y57* probably null Het
Tomm22 A G 15: 79,555,428 (GRCm39) R5G probably benign Het
Trav10 A T 14: 53,743,515 (GRCm39) S39C probably benign Het
Trav6-2 T A 14: 52,905,205 (GRCm39) N75K probably benign Het
Trio T C 15: 27,748,372 (GRCm39) S2427G probably benign Het
Ttc41 C A 10: 86,580,342 (GRCm39) H763N possibly damaging Het
Usp29 A T 7: 6,964,583 (GRCm39) N142I probably damaging Het
Vmn1r204 G T 13: 22,740,912 (GRCm39) W181L probably damaging Het
Vmn2r76 G A 7: 85,875,267 (GRCm39) T570M probably damaging Het
Wdr90 A G 17: 26,069,819 (GRCm39) L1173P probably damaging Het
Wnt9a T A 11: 59,219,396 (GRCm39) C141S probably damaging Het
Zfp462 A T 4: 55,012,299 (GRCm39) I1422L probably benign Het
Other mutations in Rtel1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TGCTAGGAAACCACTACAGGG -3'
(R):5'- AGGCATGATAGCAACCTGC -3'

Sequencing Primer
(F):5'- TAACCTCCTTGAAGTACTCAGC -3'
(R):5'- AACCTGCTGACACTGATGG -3'
Posted On 2016-07-06