Incidental Mutation 'R7681:Rtel1'
ID 592742
Institutional Source Beutler Lab
Gene Symbol Rtel1
Ensembl Gene ENSMUSG00000038685
Gene Name regulator of telomere elongation helicase 1
Synonyms
MMRRC Submission 045747-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7681 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 180961532-180998409 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 180964187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 62 (H62L)
Ref Sequence ENSEMBL: ENSMUSP00000053120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048608] [ENSMUST00000054622] [ENSMUST00000098971] [ENSMUST00000108814] [ENSMUST00000108815] [ENSMUST00000153112]
AlphaFold Q0VGM9
Predicted Effect probably damaging
Transcript: ENSMUST00000048608
AA Change: H62L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043563
Gene: ENSMUSG00000038685
AA Change: H62L

DomainStartEndE-ValueType
DEXDc 13 292 9.88e-3 SMART
HELICc 563 717 1.07e-62 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000054622
AA Change: H62L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000053120
Gene: ENSMUSG00000038685
AA Change: H62L

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 damaging
Transcript: ENSMUST00000098971
AA Change: H62L

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096571
Gene: ENSMUSG00000038685
AA Change: H62L

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: H62L

PolyPhen 2 Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104442
Gene: ENSMUSG00000038685
AA Change: H62L

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: H62L

PolyPhen 2 Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104443
Gene: ENSMUSG00000038685
AA Change: H62L

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 probably benign
Transcript: ENSMUST00000153112
AA Change: H62L

PolyPhen 2 Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000118810
Gene: ENSMUSG00000038685
AA Change: H62L

DomainStartEndE-ValueType
Pfam:ResIII 14 101 1.8e-7 PFAM
Pfam:DEAD_2 111 161 3.3e-16 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (58/60)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b C T 5: 8,899,619 (GRCm39) A963V probably benign Het
Agbl1 T C 7: 76,094,649 (GRCm39) V760A unknown Het
Akap13 T C 7: 75,378,544 (GRCm39) F347L possibly damaging Het
Anapc5 A T 5: 122,940,202 (GRCm39) F356L probably benign Het
Bmp6 A G 13: 38,530,171 (GRCm39) H88R probably damaging Het
Cblb C A 16: 52,025,001 (GRCm39) S921R probably damaging Het
Ccs T A 19: 4,882,858 (GRCm39) probably null Het
Cyp20a1 A G 1: 60,392,192 (GRCm39) T83A probably benign Het
Defa25 T A 8: 21,574,535 (GRCm39) D26E probably benign Het
Dmwd T A 7: 18,815,007 (GRCm39) N552K probably benign Het
Dnah17 C T 11: 117,916,012 (GRCm39) V4297M probably damaging Het
Fam135a A T 1: 24,106,996 (GRCm39) S47R probably benign Het
Fbxo41 A T 6: 85,455,461 (GRCm39) C574* probably null Het
Fgb T C 3: 82,957,139 (GRCm39) probably benign Het
Fgfr1 C T 8: 26,045,677 (GRCm39) T82I probably damaging Het
Fhod3 T A 18: 25,123,095 (GRCm39) L262M probably damaging Het
Galnt16 A T 12: 80,637,413 (GRCm39) Q380L probably damaging Het
Glp2r C T 11: 67,600,505 (GRCm39) G448D probably benign Het
Gnb4 C A 3: 32,641,902 (GRCm39) A242S possibly damaging Het
Golim4 T C 3: 75,794,331 (GRCm39) probably null Het
Grik2 G T 10: 49,120,476 (GRCm39) N604K probably damaging Het
Hnf1b T G 11: 83,779,972 (GRCm39) I435S probably damaging Het
Hoxa11 C T 6: 52,222,099 (GRCm39) G201S probably benign Het
Hpse A G 5: 100,839,257 (GRCm39) S364P possibly damaging Het
Kif16b A T 2: 142,598,046 (GRCm39) N525K probably damaging Het
Kif1a A T 1: 92,982,666 (GRCm39) C704S probably benign Het
Limk2 A G 11: 3,303,354 (GRCm39) S322P probably damaging Het
Lrp1b A T 2: 40,765,011 (GRCm39) C2938* probably null Het
Malrd1 A G 2: 16,222,913 (GRCm39) R2071G unknown Het
Man2a2 T A 7: 80,001,497 (GRCm39) I1137F possibly damaging Het
Map2k6 C T 11: 110,388,729 (GRCm39) R224* probably null Het
Map3k4 G A 17: 12,537,430 (GRCm39) P29L unknown Het
Morn5 A T 2: 35,947,156 (GRCm39) N145Y possibly damaging Het
Muc20 T C 16: 32,613,989 (GRCm39) T463A probably benign Het
Myh10 C T 11: 68,662,762 (GRCm39) T642I probably damaging Het
Myh14 C A 7: 44,273,572 (GRCm39) R1362L possibly damaging Het
Nup88 C A 11: 70,860,711 (GRCm39) V23L probably benign Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or13p8 A G 4: 118,583,761 (GRCm39) I106V probably benign Het
Or4c116 A C 2: 88,941,935 (GRCm39) V307G probably benign Het
Or5p56 T C 7: 107,590,355 (GRCm39) M261T possibly damaging Het
Pabpn1 T C 14: 55,135,499 (GRCm39) Y299H probably damaging Het
Pak4 T C 7: 28,259,655 (GRCm39) E514G probably damaging Het
Ppp1r12b A C 1: 134,793,673 (GRCm39) S564A probably benign Het
Psmc2 T C 5: 22,008,272 (GRCm39) probably null Het
Psme4 A G 11: 30,741,975 (GRCm39) Y146C possibly damaging Het
Rb1cc1 A G 1: 6,310,547 (GRCm39) D315G probably damaging Het
Rilpl1 A G 5: 124,668,976 (GRCm39) V24A possibly damaging Het
Ruvbl1 G A 6: 88,444,635 (GRCm39) probably null Het
Scn5a A G 9: 119,359,043 (GRCm39) V668A probably benign Het
Slc22a6 G A 19: 8,603,493 (GRCm39) G519E probably benign Het
Slc43a2 T A 11: 75,454,499 (GRCm39) I348N probably benign Het
Slc6a16 T A 7: 44,910,338 (GRCm39) L347Q probably damaging Het
Smg6 T A 11: 74,822,531 (GRCm39) L658H probably damaging Het
Spata31e4 C T 13: 50,856,290 (GRCm39) P643S possibly damaging Het
Spidr C A 16: 15,713,488 (GRCm39) G832W probably damaging Het
Ssrp1 G A 2: 84,876,092 (GRCm39) G616E probably benign Het
Sult1b1 G A 5: 87,678,495 (GRCm39) L110F probably damaging Het
Tfec T A 6: 16,834,235 (GRCm39) H224L probably benign Het
Ttn C T 2: 76,539,295 (GRCm39) E34564K probably benign Het
Washc2 A G 6: 116,237,618 (GRCm39) D1285G probably damaging Het
Zfp870 T C 17: 33,101,664 (GRCm39) E555G 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
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
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'- CATGAACTAATTTGTGTCCTCTGG -3'
(R):5'- CTGCTCCAAGAACAGAGGAAGC -3'

Sequencing Primer
(F):5'- GGTGTGAGCTGTGCATCTCAG -3'
(R):5'- ATGAACTGGCCCTGTCACAG -3'
Posted On 2019-11-12