Incidental Mutation 'R4415:Rcl1'
ID 326815
Institutional Source Beutler Lab
Gene Symbol Rcl1
Ensembl Gene ENSMUSG00000024785
Gene Name RNA terminal phosphate cyclase-like 1
Synonyms 2310040A02Rik, Rnac, RPCL1
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R4415 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 29101375-29143843 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 29118362 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 116 (V116I)
Ref Sequence ENSEMBL: ENSMUSP00000067579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064393]
AlphaFold Q9JJT0
Predicted Effect probably benign
Transcript: ENSMUST00000064393
AA Change: V116I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000067579
Gene: ENSMUSG00000024785
AA Change: V116I

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: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace3 A T 11: 106,005,121 (GRCm38) D631V probably benign Het
Adam17 T C 12: 21,345,701 (GRCm38) I274V possibly damaging Het
Aebp1 A G 11: 5,865,451 (GRCm38) D303G probably damaging Het
B020004C17Rik T C 14: 57,017,417 (GRCm38) *233R probably null Het
Bcl9l C T 9: 44,501,879 (GRCm38) P127S possibly damaging Het
Bdp1 T C 13: 100,030,861 (GRCm38) D2215G probably damaging Het
Caly T C 7: 140,072,680 (GRCm38) T52A probably damaging Het
Ccdc125 T C 13: 100,696,309 (GRCm38) S465P possibly damaging Het
Cdc23 ACC AC 18: 34,637,318 (GRCm38) probably null Het
Colq T C 14: 31,535,688 (GRCm38) K231E probably damaging Het
Fam32a T A 8: 72,221,941 (GRCm38) I77N probably damaging Het
Impdh1 C T 6: 29,209,222 (GRCm38) V49M probably damaging Het
Kcnh7 A G 2: 62,706,073 (GRCm38) I1055T probably damaging Het
Lad1 A G 1: 135,828,746 (GRCm38) D364G probably benign Het
Lama2 G T 10: 26,989,344 (GRCm38) Y947* probably null Het
Myo5b T A 18: 74,580,408 (GRCm38) I108N probably damaging Het
Nvl T C 1: 181,105,114 (GRCm38) T713A probably benign Het
Oit3 T C 10: 59,428,103 (GRCm38) Y403C probably damaging Het
Or6c70 T C 10: 129,873,957 (GRCm38) T267A probably benign Het
Pappa A G 4: 65,305,295 (GRCm38) T1236A probably benign Het
Pip4p2 C T 4: 14,912,463 (GRCm38) R191C probably damaging Het
Rdh14 G A 12: 10,391,231 (GRCm38) probably null Het
Rfx2 T A 17: 56,787,733 (GRCm38) T204S possibly damaging Het
Rin2 C T 2: 145,860,446 (GRCm38) T354I probably benign Het
Ripor1 T C 8: 105,617,976 (GRCm38) S581P probably benign Het
Rnf213 T A 11: 119,483,964 (GRCm38) V5084E probably damaging Het
Scn9a A T 2: 66,526,693 (GRCm38) V1077E probably damaging Het
Slc15a5 A G 6: 138,079,756 (GRCm38) V54A probably benign Het
Slc35b2 G A 17: 45,566,429 (GRCm38) V161M probably benign Het
Snx19 T A 9: 30,437,483 (GRCm38) L804Q probably damaging Het
Spata31e5 T A 1: 28,777,133 (GRCm38) Q606L probably benign Het
Specc1l C A 10: 75,246,328 (GRCm38) N519K possibly damaging Het
Spmip6 T C 4: 41,505,574 (GRCm38) T183A possibly damaging Het
Stambp A T 6: 83,557,482 (GRCm38) N274K probably damaging Het
Stox1 T C 10: 62,659,569 (GRCm38) N975S probably benign Het
Tacc3 T G 5: 33,666,684 (GRCm38) probably null Het
Tubb1 G A 2: 174,457,673 (GRCm38) E383K probably benign Het
Ube3b A T 5: 114,412,444 (GRCm38) D844V probably damaging Het
Other mutations in Rcl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Rcl1 APN 19 29,121,262 (GRCm38) splice site probably null
IGL01514:Rcl1 APN 19 29,143,298 (GRCm38) utr 3 prime probably benign
IGL02625:Rcl1 APN 19 29,118,341 (GRCm38) missense probably benign 0.04
R0512:Rcl1 UTSW 19 29,128,097 (GRCm38) missense probably damaging 1.00
R2249:Rcl1 UTSW 19 29,121,868 (GRCm38) missense possibly damaging 0.46
R3610:Rcl1 UTSW 19 29,118,230 (GRCm38) missense probably benign 0.00
R5324:Rcl1 UTSW 19 29,128,001 (GRCm38) missense probably benign 0.23
R5679:Rcl1 UTSW 19 29,121,258 (GRCm38) splice site probably null
R5988:Rcl1 UTSW 19 29,121,767 (GRCm38) missense probably damaging 1.00
R7332:Rcl1 UTSW 19 29,130,696 (GRCm38) missense probably benign 0.03
R7936:Rcl1 UTSW 19 29,118,405 (GRCm38) splice site probably null
R8353:Rcl1 UTSW 19 29,115,759 (GRCm38) missense possibly damaging 0.95
R8453:Rcl1 UTSW 19 29,115,759 (GRCm38) missense possibly damaging 0.95
R9282:Rcl1 UTSW 19 29,115,770 (GRCm38) missense probably damaging 0.99
R9747:Rcl1 UTSW 19 29,128,082 (GRCm38) missense probably damaging 0.98
Z1176:Rcl1 UTSW 19 29,101,617 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- CCCTTGGAACACACTACATTCG -3'
(R):5'- CACGGGACTTGATTCATCTGTG -3'

Sequencing Primer
(F):5'- GGAACACACTACATTCGTTGTTGTC -3'
(R):5'- GTCTTGGATGAACTAACCTCTAAGC -3'
Posted On 2015-07-07