Incidental Mutation 'R4742:Rlig1'
ID 358144
Institutional Source Beutler Lab
Gene Symbol Rlig1
Ensembl Gene ENSMUSG00000046567
Gene Name RNA 5'-phosphate and 3'-OH ligase 1
Synonyms 4930430F08Rik
MMRRC Submission 041966-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.179) question?
Stock # R4742 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 100408136-100425252 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100414243 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 139 (I139V)
Ref Sequence ENSEMBL: ENSMUSP00000152035 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054471] [ENSMUST00000164751] [ENSMUST00000218821] [ENSMUST00000219765] [ENSMUST00000220346]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000054471
AA Change: I119V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect probably benign
Transcript: ENSMUST00000164751
SMART Domains Protein: ENSMUSP00000130899
Gene: ENSMUSG00000019971

DomainStartEndE-ValueType
coiled coil region 59 298 N/A INTRINSIC
coiled coil region 319 566 N/A INTRINSIC
coiled coil region 598 662 N/A INTRINSIC
coiled coil region 697 754 N/A INTRINSIC
coiled coil region 780 875 N/A INTRINSIC
internal_repeat_2 884 894 1.1e-5 PROSPERO
coiled coil region 986 1028 N/A INTRINSIC
internal_repeat_2 1057 1067 1.1e-5 PROSPERO
coiled coil region 1071 1109 N/A INTRINSIC
low complexity region 1140 1156 N/A INTRINSIC
internal_repeat_1 1176 1206 8.72e-8 PROSPERO
coiled coil region 1221 1250 N/A INTRINSIC
Pfam:CEP209_CC5 1290 1417 3.8e-55 PFAM
low complexity region 1476 1493 N/A INTRINSIC
internal_repeat_1 1498 1525 8.72e-8 PROSPERO
coiled coil region 1535 1595 N/A INTRINSIC
coiled coil region 1624 1716 N/A INTRINSIC
coiled coil region 1776 2328 N/A INTRINSIC
low complexity region 2333 2347 N/A INTRINSIC
coiled coil region 2377 2453 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218156
Predicted Effect probably benign
Transcript: ENSMUST00000218328
Predicted Effect probably benign
Transcript: ENSMUST00000218821
AA Change: I139V

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219410
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219643
Predicted Effect probably benign
Transcript: ENSMUST00000219765
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219698
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219889
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219995
Predicted Effect probably benign
Transcript: ENSMUST00000220346
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219790
Meta Mutation Damage Score 0.0736 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 94% (51/54)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8030423J24Rik G T 13: 71,031,644 (GRCm39) R17L unknown Het
Acan T C 7: 78,750,517 (GRCm39) F1763L probably benign Het
Adgrb1 T A 15: 74,401,328 (GRCm39) L108* probably null Het
Anapc2 T A 2: 25,163,555 (GRCm39) probably null Het
Apbb1ip A G 2: 22,716,928 (GRCm39) K177E unknown Het
Azgp1 T A 5: 137,987,888 (GRCm39) Y223* probably null Het
Cfap44 T G 16: 44,269,615 (GRCm39) probably null Het
Chfr C T 5: 110,291,464 (GRCm39) T94I probably benign Het
Chrna10 T G 7: 101,762,344 (GRCm39) Q282P probably damaging Het
Col9a3 G T 2: 180,245,180 (GRCm39) G130W unknown Het
Dcaf1 A G 9: 106,735,754 (GRCm39) T901A probably benign Het
Dock2 T G 11: 34,244,170 (GRCm39) probably null Het
Dysf C A 6: 84,074,697 (GRCm39) D499E probably damaging Het
Fdxacb1 A G 9: 50,679,968 (GRCm39) probably benign Het
Fhip1b A G 7: 105,033,518 (GRCm39) V566A probably damaging Het
Il31ra G T 13: 112,660,501 (GRCm39) S615* probably null Het
Itgam C T 7: 127,712,245 (GRCm39) S827F probably damaging Het
Mapkbp1 T A 2: 119,847,299 (GRCm39) V512E probably damaging Het
Myo1c C T 11: 75,560,856 (GRCm39) R770* probably null Het
Nab2 T C 10: 127,498,696 (GRCm39) T458A probably benign Het
Nadsyn1 A G 7: 143,352,367 (GRCm39) probably benign Het
Nek10 A G 14: 14,861,624 (GRCm38) D560G probably null Het
Or2ag13 A T 7: 106,472,635 (GRCm39) N272K probably damaging Het
Or2ak6 A G 11: 58,592,685 (GRCm39) R53G probably benign Het
Or8b46 T C 9: 38,450,952 (GRCm39) S254P probably damaging Het
Pou1f1 C A 16: 65,320,367 (GRCm39) P19T probably benign Het
Prdm9 A T 17: 15,773,783 (GRCm39) D329E probably damaging Het
Prkn T A 17: 11,456,591 (GRCm39) probably null Het
Ptprm A C 17: 67,051,746 (GRCm39) Y962* probably null Het
Rad9a G A 19: 4,250,560 (GRCm39) R85C probably damaging Het
Rhox2c A C X: 36,635,351 (GRCm39) Q4H probably benign Het
Rtkn2 A G 10: 67,839,144 (GRCm39) T154A possibly damaging Het
Slitrk3 T C 3: 72,955,898 (GRCm39) D958G probably benign Het
Spata31d1b C A 13: 59,864,426 (GRCm39) H525N probably damaging Het
Tacc2 A G 7: 130,227,697 (GRCm39) R1461G probably benign Het
Tas2r105 G A 6: 131,663,814 (GRCm39) H205Y probably damaging Het
Tenm4 A G 7: 96,446,691 (GRCm39) N809D probably damaging Het
Thoc2l A T 5: 104,666,723 (GRCm39) N415I probably benign Het
Tns1 A G 1: 74,163,449 (GRCm39) probably null Het
Top1 A G 2: 160,545,490 (GRCm39) probably null Het
Traf3ip2 C T 10: 39,515,256 (GRCm39) P345S possibly damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Txndc9 T C 1: 38,026,765 (GRCm39) D135G possibly damaging Het
Usp3 A G 9: 66,427,959 (GRCm39) Y339H probably damaging Het
Vmn1r5 A T 6: 56,963,236 (GRCm39) K304* probably null Het
Vmn2r92 A G 17: 18,387,119 (GRCm39) T153A probably benign Het
Xkr5 A T 8: 18,998,746 (GRCm39) *55K probably null Het
Other mutations in Rlig1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01314:Rlig1 APN 10 100,409,473 (GRCm39) missense probably damaging 0.97
IGL01775:Rlig1 APN 10 100,419,799 (GRCm39) missense probably benign 0.41
PIT4495001:Rlig1 UTSW 10 100,419,812 (GRCm39) missense probably damaging 1.00
R0206:Rlig1 UTSW 10 100,422,056 (GRCm39) nonsense probably null
R0731:Rlig1 UTSW 10 100,422,065 (GRCm39) missense probably damaging 1.00
R1955:Rlig1 UTSW 10 100,413,166 (GRCm39) missense probably damaging 1.00
R2011:Rlig1 UTSW 10 100,419,820 (GRCm39) missense probably damaging 0.99
R4680:Rlig1 UTSW 10 100,414,243 (GRCm39) missense probably benign 0.07
R4682:Rlig1 UTSW 10 100,414,243 (GRCm39) missense probably benign 0.07
R4683:Rlig1 UTSW 10 100,414,243 (GRCm39) missense probably benign 0.07
R4708:Rlig1 UTSW 10 100,414,243 (GRCm39) missense probably benign 0.07
R4709:Rlig1 UTSW 10 100,414,243 (GRCm39) missense probably benign 0.07
R4743:Rlig1 UTSW 10 100,414,243 (GRCm39) missense probably benign 0.07
R6716:Rlig1 UTSW 10 100,409,478 (GRCm39) missense probably benign 0.00
R7185:Rlig1 UTSW 10 100,425,073 (GRCm39) start gained probably benign
R8103:Rlig1 UTSW 10 100,413,110 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACAAGTCGCTCTAAGCAATATCTG -3'
(R):5'- AGACGGTAGTGTGCAACGTG -3'

Sequencing Primer
(F):5'- GTCGCTCTAAGCAATATCTGATAAAG -3'
(R):5'- CAACGTGGTAGTGTACTAAAAGTTGC -3'
Posted On 2015-11-11