Incidental Mutation 'R2249:Rcl1'
ID 240812
Institutional Source Beutler Lab
Gene Symbol Rcl1
Ensembl Gene ENSMUSG00000024785
Gene Name RNA terminal phosphate cyclase-like 1
Synonyms RPCL1, 2310040A02Rik, Rnac
MMRRC Submission 040249-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R2249 (G1)
Quality Score 211
Status Not validated
Chromosome 19
Chromosomal Location 29078761-29121251 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 29099268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 188 (I188F)
Ref Sequence ENSEMBL: ENSMUSP00000067579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064393]
AlphaFold Q9JJT0
Predicted Effect possibly damaging
Transcript: ENSMUST00000064393
AA Change: I188F

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000067579
Gene: ENSMUSG00000024785
AA Change: I188F

DomainStartEndE-ValueType
Pfam:RTC 8 341 1.3e-61 PFAM
Pfam:RTC_insert 184 289 1.8e-37 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b G A 15: 101,100,975 (GRCm39) R379Q probably null Het
Adam23 C T 1: 63,574,335 (GRCm39) Q276* probably null Het
Apob A T 12: 8,057,499 (GRCm39) S1961C probably damaging Het
Atxn7l1 C T 12: 33,408,839 (GRCm39) P334S probably damaging Het
Ccnb1 T C 13: 100,917,827 (GRCm39) M258V possibly damaging Het
Cd34 A C 1: 194,630,260 (GRCm39) T65P possibly damaging Het
Cog6 A G 3: 52,907,900 (GRCm39) probably null Het
Cp T C 3: 20,041,734 (GRCm39) M953T probably damaging Het
Cwc27 C T 13: 104,768,130 (GRCm39) R455Q unknown Het
Dhx57 A T 17: 80,588,663 (GRCm39) D63E probably damaging Het
Elapor1 A T 3: 108,378,726 (GRCm39) Y409* probably null Het
Flt4 T A 11: 49,536,786 (GRCm39) M1252K possibly damaging Het
Gfral C T 9: 76,100,631 (GRCm39) C269Y probably damaging Het
Itih4 C T 14: 30,621,351 (GRCm39) Q788* probably null Het
Kif18b A G 11: 102,803,214 (GRCm39) S499P probably benign Het
Map1a G C 2: 121,130,768 (GRCm39) R528P probably damaging Het
Map3k5 T C 10: 20,003,443 (GRCm39) F1152L probably damaging Het
Marveld2 T C 13: 100,748,599 (GRCm39) D160G probably benign Het
Mtcl2 A T 2: 156,882,013 (GRCm39) C680S probably benign Het
Mug1 A T 6: 121,847,469 (GRCm39) M616L probably benign Het
Ndst4 A T 3: 125,231,823 (GRCm39) I131F probably benign Het
Neto1 G T 18: 86,479,399 (GRCm39) A196S probably benign Het
Notum A G 11: 120,545,237 (GRCm39) F441L probably benign Het
Nsmce4a A G 7: 130,140,769 (GRCm39) I239T probably benign Het
Or51g1 A T 7: 102,633,647 (GRCm39) N241K possibly damaging Het
Or52z14 T A 7: 103,252,943 (GRCm39) D27E probably benign Het
Or5d35 A T 2: 87,855,707 (GRCm39) I214F probably damaging Het
Or6s1 T A 14: 51,307,870 (GRCm39) K327* probably null Het
Or6x1 A T 9: 40,098,980 (GRCm39) T190S possibly damaging Het
Or8k40 A G 2: 86,584,398 (GRCm39) M228T probably damaging Het
Pde4dip A T 3: 97,700,841 (GRCm39) V221D probably damaging Het
Pkp1 T C 1: 135,808,545 (GRCm39) Y474C probably damaging Het
Ptk6 A C 2: 180,838,173 (GRCm39) H363Q probably benign Het
Rb1cc1 T C 1: 6,342,948 (GRCm39) W187R probably damaging Het
Rbfox3 A T 11: 118,394,564 (GRCm39) F132L probably damaging Het
Scfd1 T A 12: 51,462,299 (GRCm39) S385T possibly damaging Het
Sema6d A G 2: 124,501,508 (GRCm39) E483G possibly damaging Het
Semp2l2b T C 10: 21,943,015 (GRCm39) I322V possibly damaging Het
Sipa1l1 T C 12: 82,388,890 (GRCm39) V372A probably benign Het
Slc17a6 G A 7: 51,317,654 (GRCm39) G429D probably damaging Het
Slc22a5 A G 11: 53,774,532 (GRCm39) V151A possibly damaging Het
Spidr T C 16: 15,936,787 (GRCm39) D106G probably damaging Het
Tekt3 A T 11: 62,974,778 (GRCm39) T366S probably benign Het
Trpm3 T C 19: 22,710,398 (GRCm39) M281T probably benign Het
Ttn A G 2: 76,782,485 (GRCm39) V917A probably damaging Het
Tubgcp4 A T 2: 121,014,110 (GRCm39) D221V possibly damaging Het
Ubr4 C T 4: 139,176,232 (GRCm39) R3153W probably damaging Het
Vmn1r89 A C 7: 12,954,187 (GRCm39) T308P possibly damaging Het
Vmn2r59 A G 7: 41,708,326 (GRCm39) I27T probably benign Het
Vps13c T G 9: 67,895,335 (GRCm39) probably null Het
Zfp142 A G 1: 74,606,191 (GRCm39) V1793A probably damaging Het
Zfp472 T A 17: 33,197,109 (GRCm39) C395S possibly damaging Het
Other mutations in Rcl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Rcl1 APN 19 29,098,662 (GRCm39) splice site probably null
IGL01514:Rcl1 APN 19 29,120,698 (GRCm39) utr 3 prime probably benign
IGL02625:Rcl1 APN 19 29,095,741 (GRCm39) missense probably benign 0.04
R0512:Rcl1 UTSW 19 29,105,497 (GRCm39) missense probably damaging 1.00
R3610:Rcl1 UTSW 19 29,095,630 (GRCm39) missense probably benign 0.00
R4415:Rcl1 UTSW 19 29,095,762 (GRCm39) missense probably benign 0.01
R5324:Rcl1 UTSW 19 29,105,401 (GRCm39) missense probably benign 0.23
R5679:Rcl1 UTSW 19 29,098,658 (GRCm39) splice site probably null
R5988:Rcl1 UTSW 19 29,099,167 (GRCm39) missense probably damaging 1.00
R7332:Rcl1 UTSW 19 29,108,096 (GRCm39) missense probably benign 0.03
R7936:Rcl1 UTSW 19 29,095,805 (GRCm39) splice site probably null
R8353:Rcl1 UTSW 19 29,093,159 (GRCm39) missense possibly damaging 0.95
R8453:Rcl1 UTSW 19 29,093,159 (GRCm39) missense possibly damaging 0.95
R9282:Rcl1 UTSW 19 29,093,170 (GRCm39) missense probably damaging 0.99
R9747:Rcl1 UTSW 19 29,105,482 (GRCm39) missense probably damaging 0.98
Z1176:Rcl1 UTSW 19 29,079,017 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CAGTGCCTTCAAAGCCCCATAG -3'
(R):5'- CAGAATTATTGCCTTCCCCAGAC -3'

Sequencing Primer
(F):5'- AGCCCCATAGGAATGATTTAGCCTTC -3'
(R):5'- CCCCAGACACTGTAGTATTAAGTG -3'
Posted On 2014-10-15