Incidental Mutation 'R5222:Rtel1'
ID 402358
Institutional Source Beutler Lab
Gene Symbol Rtel1
Ensembl Gene ENSMUSG00000038685
Gene Name regulator of telomere elongation helicase 1
Synonyms
MMRRC Submission 042795-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5222 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 180961532-180998409 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to T at 180988776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000048608] [ENSMUST00000054622] [ENSMUST00000098971] [ENSMUST00000108814] [ENSMUST00000108815] [ENSMUST00000148252]
AlphaFold Q0VGM9
Predicted Effect probably benign
Transcript: ENSMUST00000048608
SMART Domains Protein: ENSMUSP00000043563
Gene: ENSMUSG00000038685

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

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
SMART Domains Protein: ENSMUSP00000096571
Gene: ENSMUSG00000038685

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
SMART Domains Protein: ENSMUSP00000104442
Gene: ENSMUSG00000038685

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
SMART Domains Protein: ENSMUSP00000104443
Gene: ENSMUSG00000038685

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: ENSMUST00000125233
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126842
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146273
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144648
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130935
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139608
Predicted Effect probably benign
Transcript: ENSMUST00000184751
Predicted Effect probably benign
Transcript: ENSMUST00000148252
SMART Domains Protein: ENSMUSP00000116159
Gene: ENSMUSG00000038685

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (52/53)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik C A 1: 159,872,178 (GRCm39) noncoding transcript Het
Acad11 G A 9: 103,974,576 (GRCm39) A515T probably damaging Het
Angpt1 T C 15: 42,539,730 (GRCm39) Y43C probably damaging Het
Arhgef33 A G 17: 80,644,743 (GRCm39) Y24C probably damaging Het
Cd40 G C 2: 164,908,464 (GRCm39) S180T probably benign Het
Cenpc1 A T 5: 86,185,606 (GRCm39) S302T possibly damaging Het
Cit C A 5: 116,090,602 (GRCm39) T932K probably benign Het
Col19a1 A C 1: 24,598,721 (GRCm39) probably null Het
Dapk3 A G 10: 81,028,294 (GRCm39) E288G probably damaging Het
Ddx60 T C 8: 62,437,192 (GRCm39) F1002S probably damaging Het
Dgke G T 11: 88,941,220 (GRCm39) T321K probably benign Het
Ebf2 T G 14: 67,551,043 (GRCm39) probably benign Het
Enpp7 A G 11: 118,881,788 (GRCm39) D311G probably benign Het
Epm2a A G 10: 11,324,493 (GRCm39) E194G probably damaging Het
Esf1 A G 2: 140,000,503 (GRCm39) Y428H possibly damaging Het
Esyt2 T C 12: 116,282,446 (GRCm39) F132S probably damaging Het
Gm5455 T C 13: 110,441,494 (GRCm39) noncoding transcript Het
Gria1 T A 11: 57,080,623 (GRCm39) V202E probably benign Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Mark1 A T 1: 184,660,288 (GRCm39) F123I probably damaging Het
Nectin4 T A 1: 171,212,825 (GRCm39) probably null Het
Obscn T A 11: 58,934,971 (GRCm39) T5220S possibly damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2l13 A C 16: 19,305,680 (GRCm39) I31L probably benign Het
Or2p2 T A 13: 21,256,739 (GRCm39) H244L probably damaging Het
Pdcd1 A T 1: 93,980,175 (GRCm39) V14E probably damaging Het
Pmel A G 10: 128,554,853 (GRCm39) probably null Het
Pramel28 T A 4: 143,691,362 (GRCm39) I454F possibly damaging Het
Prrx1 C T 1: 163,089,542 (GRCm39) R95Q probably damaging Het
Pstpip2 T A 18: 77,962,032 (GRCm39) Y267* probably null Het
Ptprq A G 10: 107,498,425 (GRCm39) I884T probably damaging Het
Rad17 G A 13: 100,770,399 (GRCm39) T216I possibly damaging Het
Rif1 T C 2: 51,967,032 (GRCm39) I107T probably benign Het
Rpp14 T C 14: 8,087,513 (GRCm38) L69P probably damaging Het
Sap130 C T 18: 31,799,756 (GRCm39) T362M probably damaging Het
Scn11a A G 9: 119,644,268 (GRCm39) probably null Het
Sec31a G T 5: 100,530,754 (GRCm39) T243N probably benign Het
Slc5a9 T A 4: 111,755,808 (GRCm39) H30L possibly damaging Het
Slco6b1 T A 1: 96,925,216 (GRCm39) noncoding transcript Het
Smarca4 A G 9: 21,567,002 (GRCm39) D694G probably benign Het
Spaca6 A G 17: 18,058,367 (GRCm39) T213A probably benign Het
Tagap C A 17: 8,152,473 (GRCm39) Q553K possibly damaging Het
Tagap A T 17: 8,152,474 (GRCm39) Q553L possibly damaging Het
Tcf7l2 A G 19: 55,887,044 (GRCm39) Q19R probably benign Het
Ttn A G 2: 76,709,197 (GRCm39) probably benign Het
Ubr7 A T 12: 102,741,964 (GRCm39) R399S probably benign Het
Uspl1 C A 5: 149,150,911 (GRCm39) Q690K possibly damaging Het
Vps8 T A 16: 21,400,298 (GRCm39) Y853* probably null Het
Vrk3 A T 7: 44,409,220 (GRCm39) Q129L possibly damaging Het
Wapl T A 14: 34,458,642 (GRCm39) C901* probably null 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
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'- AAGATGTGTTCTCAACCCAGGC -3'
(R):5'- AGTGGGCATGACTCCAGATG -3'

Sequencing Primer
(F):5'- AACCCAGGCTCCCTTTCC -3'
(R):5'- GGCATGACTCCAGATGTGATG -3'
Posted On 2016-07-22