Incidental Mutation 'R7381:Rtel1'
ID 572699
Institutional Source Beutler Lab
Gene Symbol Rtel1
Ensembl Gene ENSMUSG00000038685
Gene Name regulator of telomere elongation helicase 1
Synonyms
MMRRC Submission 045463-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7381 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 180961532-180998409 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 180972608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 29 (R29*)
Ref Sequence ENSEMBL: ENSMUSP00000116159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048608] [ENSMUST00000054622] [ENSMUST00000098971] [ENSMUST00000108814] [ENSMUST00000108815] [ENSMUST00000148252]
AlphaFold Q0VGM9
Predicted Effect probably null
Transcript: ENSMUST00000048608
AA Change: R213*
SMART Domains Protein: ENSMUSP00000043563
Gene: ENSMUSG00000038685
AA Change: R213*

DomainStartEndE-ValueType
DEXDc 13 292 9.88e-3 SMART
HELICc 563 717 1.07e-62 SMART
Predicted Effect probably null
Transcript: ENSMUST00000054622
AA Change: R213*
SMART Domains Protein: ENSMUSP00000053120
Gene: ENSMUSG00000038685
AA Change: R213*

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 null
Transcript: ENSMUST00000098971
AA Change: R213*
SMART Domains Protein: ENSMUSP00000096571
Gene: ENSMUSG00000038685
AA Change: R213*

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 null
Transcript: ENSMUST00000108814
AA Change: R213*
SMART Domains Protein: ENSMUSP00000104442
Gene: ENSMUSG00000038685
AA Change: R213*

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 null
Transcript: ENSMUST00000108815
AA Change: R213*
SMART Domains Protein: ENSMUSP00000104443
Gene: ENSMUSG00000038685
AA Change: R213*

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: ENSMUST00000139608
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146273
Predicted Effect probably null
Transcript: ENSMUST00000148252
AA Change: R29*
SMART Domains Protein: ENSMUSP00000116159
Gene: ENSMUSG00000038685
AA Change: R29*

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
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (88/90)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik T C 9: 53,323,122 (GRCm39) Y53H probably damaging Het
Abca8a A T 11: 109,920,913 (GRCm39) probably null Het
Acads C A 5: 115,249,057 (GRCm39) Q365H probably damaging Het
Acsm3 A G 7: 119,380,049 (GRCm39) D462G probably damaging Het
Adam39 T A 8: 41,279,000 (GRCm39) C464S probably damaging Het
Adgra3 A G 5: 50,216,116 (GRCm39) M1T probably null Het
AI182371 T C 2: 34,975,371 (GRCm39) Y276C probably damaging Het
Ank2 T A 3: 126,730,277 (GRCm39) H719L possibly damaging Het
Ano7 G A 1: 93,323,057 (GRCm39) V466I probably benign Het
Art5 A G 7: 101,747,377 (GRCm39) L134P probably damaging Het
Atcay A G 10: 81,046,431 (GRCm39) Y298H possibly damaging Het
Atp1a4 A T 1: 172,067,682 (GRCm39) F527Y possibly damaging Het
Bpifb2 A T 2: 153,734,268 (GRCm39) M428L probably benign Het
Brinp2 A C 1: 158,073,913 (GRCm39) V736G probably benign Het
Cdc5l C T 17: 45,722,849 (GRCm39) A437T probably benign Het
Cdx2 G A 5: 147,243,440 (GRCm39) P118L possibly damaging Het
Chpt1 G A 10: 88,311,193 (GRCm39) probably null Het
Creb3l2 T A 6: 37,312,783 (GRCm39) E417V probably damaging Het
Csnk2a1 A G 2: 152,100,614 (GRCm39) T129A probably benign Het
Dennd6b A T 15: 89,070,376 (GRCm39) L431Q possibly damaging Het
Dgkz C T 2: 91,775,180 (GRCm39) A260T probably benign Het
Dhx34 T A 7: 15,949,373 (GRCm39) T352S probably benign Het
Elp4 C T 2: 105,622,652 (GRCm39) R349Q not run Het
Emsy A C 7: 98,240,010 (GRCm39) F1228V probably damaging Het
Eps8l1 T A 7: 4,473,437 (GRCm39) probably null Het
Faf1 T A 4: 109,719,134 (GRCm39) D413E probably damaging Het
Fat3 T C 9: 16,158,283 (GRCm39) Y1109C probably damaging Het
Fbp1 T C 13: 63,012,867 (GRCm39) K314E probably benign Het
Fbxl20 A G 11: 97,981,614 (GRCm39) V358A probably benign Het
Fbxo34 C G 14: 47,767,992 (GRCm39) R502G probably benign Het
Fxr2 G A 11: 69,532,875 (GRCm39) C151Y possibly damaging Het
Garin5b C A 7: 4,760,681 (GRCm39) R677L Het
Gja8 T C 3: 96,827,338 (GRCm39) D108G probably benign Het
Gm10722 C A 9: 3,001,235 (GRCm39) L104I probably benign Het
Grsf1 A G 5: 88,813,666 (GRCm39) V361A probably benign Het
Gsap T A 5: 21,431,785 (GRCm39) I228N probably damaging Het
Hagh T C 17: 25,075,686 (GRCm39) I131T probably damaging Het
Heca A T 10: 17,791,272 (GRCm39) Y261* probably null Het
Hipk3 A G 2: 104,269,696 (GRCm39) F498L probably damaging Het
Hps4 T A 5: 112,523,324 (GRCm39) I614N possibly damaging Het
Icam1 T C 9: 20,938,886 (GRCm39) S450P probably benign Het
Il22 G A 10: 118,041,069 (GRCm39) M58I possibly damaging Het
Khdrbs2 T A 1: 32,372,883 (GRCm39) S186T not run Het
Kif16b A G 2: 142,699,343 (GRCm39) F79S probably damaging Het
Kntc1 C A 5: 123,948,971 (GRCm39) F1905L probably benign Het
Liat1 A T 11: 75,893,833 (GRCm39) D70V probably damaging Het
Lrp1b C T 2: 40,692,929 (GRCm39) G3423D Het
Lrp5 G T 19: 3,643,588 (GRCm39) Q1346K probably benign Het
Map3k21 A C 8: 126,671,717 (GRCm39) T1002P possibly damaging Het
Mdga2 G T 12: 66,615,670 (GRCm39) R646S probably benign Het
Mex3b G T 7: 82,518,073 (GRCm39) M129I possibly damaging Het
Mfsd10 G T 5: 34,793,770 (GRCm39) N85K probably damaging Het
Mios A G 6: 8,216,064 (GRCm39) D420G probably damaging Het
Mogs C A 6: 83,092,613 (GRCm39) P18T unknown Het
Mrgpre A G 7: 143,335,150 (GRCm39) C118R probably damaging Het
Muc4 A T 16: 32,601,285 (GRCm39) H1321L Het
Nkapl T C 13: 21,651,759 (GRCm39) K285E probably damaging Het
Nphp4 C T 4: 152,583,460 (GRCm39) P200S possibly damaging Het
Piezo1 A G 8: 123,228,397 (GRCm39) F297L Het
Pkhd1 T G 1: 20,271,197 (GRCm39) S3119R probably damaging Het
Pla2g15 G A 8: 106,889,576 (GRCm39) V283I probably benign Het
Ppp1r13l T A 7: 19,102,786 (GRCm39) probably null Het
Prex1 A G 2: 166,429,047 (GRCm39) Y849H probably damaging Het
Psg27 C A 7: 18,301,008 (GRCm39) W15L probably benign Het
Ptar1 A T 19: 23,686,334 (GRCm39) probably null Het
Ptpn6 G A 6: 124,705,135 (GRCm39) R264C probably damaging Het
Ptprb A G 10: 116,177,038 (GRCm39) I988V probably benign Het
Ptpro G A 6: 137,376,559 (GRCm39) V680I possibly damaging Het
Rnf170 C T 8: 26,613,876 (GRCm39) P28S probably benign Het
Rnpepl1 A G 1: 92,846,917 (GRCm39) S580G possibly damaging Het
Rtkn T C 6: 83,128,726 (GRCm39) L26P probably damaging Het
Sdk2 A C 11: 113,729,315 (GRCm39) S1087R probably damaging Het
Sema7a C T 9: 57,860,852 (GRCm39) P71L probably benign Het
Sgpp1 C T 12: 75,763,038 (GRCm39) C381Y probably damaging Het
Sis A T 3: 72,820,625 (GRCm39) probably null Het
Slc24a5 A C 2: 124,910,869 (GRCm39) D100A probably benign Het
Slc25a23 A T 17: 57,360,587 (GRCm39) I251K probably damaging Het
Slc6a5 T A 7: 49,579,804 (GRCm39) L394H probably damaging Het
Slc7a4 A T 16: 17,392,920 (GRCm39) M293K probably damaging Het
Syne2 T A 12: 75,973,263 (GRCm39) S1089T probably benign Het
Tanc1 A T 2: 59,615,670 (GRCm39) T226S probably damaging Het
Tdrd6 T C 17: 43,936,984 (GRCm39) T1355A probably benign Het
Tmem101 A G 11: 102,044,176 (GRCm39) M237T possibly damaging Het
Ttn G A 2: 76,749,359 (GRCm39) H3897Y possibly damaging Het
Tubb4a C T 17: 57,387,698 (GRCm39) V443M unknown Het
Ucp2 G A 7: 100,147,576 (GRCm39) R185H possibly damaging Het
Vmn1r116 G T 7: 20,606,436 (GRCm39) E86* probably null Het
Vmn2r37 T C 7: 9,213,032 (GRCm39) E530G probably benign Het
Vwa8 A G 14: 79,333,125 (GRCm39) T1293A probably benign Het
Zfc3h1 T A 10: 115,260,535 (GRCm39) Y1711N probably benign Het
Zfp873 A T 10: 81,896,805 (GRCm39) E512V probably damaging Het
Zfyve16 T A 13: 92,657,654 (GRCm39) K752N probably damaging Het
Zhx1 T C 15: 57,916,561 (GRCm39) N562D possibly damaging 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
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
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'- ACATGGGCTGCCCTTCTATG -3'
(R):5'- GCATCTGGACAGGTATTCAGTC -3'

Sequencing Primer
(F):5'- GCCAGTTTCCAGTTCCCTTGAG -3'
(R):5'- GGACAGGTATTCAGTCTAATCAGTG -3'
Posted On 2019-09-13