Incidental Mutation 'IGL01314:Rlig1'
ID 73804
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rlig1
Ensembl Gene ENSMUSG00000046567
Gene Name RNA 5'-phosphate and 3'-OH ligase 1
Synonyms 4930430F08Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.179) question?
Stock # IGL01314
Quality Score
Status
Chromosome 10
Chromosomal Location 100408136-100425252 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 100409473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 313 (D313E)
Ref Sequence ENSEMBL: ENSMUSP00000062410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054471] [ENSMUST00000164751] [ENSMUST00000218821] [ENSMUST00000219765] [ENSMUST00000220346]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000054471
AA Change: D313E

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219410
Predicted Effect probably benign
Transcript: ENSMUST00000219765
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219889
Predicted Effect probably benign
Transcript: ENSMUST00000220346
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219643
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219698
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219790
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219995
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 C T 15: 11,071,939 (GRCm39) A161V probably benign Het
Bptf A T 11: 106,945,679 (GRCm39) V2520E probably damaging Het
C87436 T C 6: 86,434,837 (GRCm39) F395S probably damaging Het
Capn1 T C 19: 6,040,014 (GRCm39) probably benign Het
Ceacam5 T A 7: 17,481,181 (GRCm39) Y309* probably null Het
Clasp2 A G 9: 113,735,195 (GRCm39) D1011G possibly damaging Het
Csmd3 A G 15: 47,713,151 (GRCm39) Y1608H probably damaging Het
Dcaf1 T C 9: 106,711,390 (GRCm39) I77T probably benign Het
Dcdc2a T C 13: 25,286,587 (GRCm39) L170P probably damaging Het
Ddx28 A G 8: 106,737,212 (GRCm39) F282S probably damaging Het
Egf A G 3: 129,479,909 (GRCm39) I497T probably benign Het
Emsy A G 7: 98,242,662 (GRCm39) V1159A probably benign Het
Hk3 C A 13: 55,154,876 (GRCm39) probably benign Het
Htt A G 5: 35,036,200 (GRCm39) D2049G probably benign Het
Inpp5d C A 1: 87,611,472 (GRCm39) S45* probably null Het
Irf8 A G 8: 121,480,119 (GRCm39) Y119C probably damaging Het
Klk1b4 T C 7: 43,860,600 (GRCm39) probably null Het
Macf1 A G 4: 123,380,513 (GRCm39) S1273P probably damaging Het
Man2c1 A T 9: 57,049,103 (GRCm39) H867L probably benign Het
Mgat4e T C 1: 134,469,187 (GRCm39) T286A probably damaging Het
Mug2 T C 6: 122,058,238 (GRCm39) F1267L possibly damaging Het
Necab1 T A 4: 15,005,079 (GRCm39) E128D probably damaging Het
Or10ak9 G A 4: 118,726,328 (GRCm39) V117I probably benign Het
Pds5a A G 5: 65,772,637 (GRCm39) V1322A probably benign Het
Poc1b C T 10: 98,965,503 (GRCm39) T144I probably damaging Het
Prcc T A 3: 87,777,387 (GRCm39) N196Y probably damaging Het
Psma5 G A 3: 108,187,111 (GRCm39) V237M possibly damaging Het
Rap1gds1 A G 3: 138,756,322 (GRCm39) L11P probably damaging Het
Rapgef3 A G 15: 97,646,104 (GRCm39) F132S probably damaging Het
Rgs13 T G 1: 144,047,179 (GRCm39) D14A probably benign Het
Stxbp4 A G 11: 90,512,475 (GRCm39) probably benign Het
Tcerg1 C A 18: 42,706,374 (GRCm39) A1017D probably damaging Het
Tent5c T C 3: 100,380,490 (GRCm39) K89E probably benign Het
Tmem79 T C 3: 88,239,883 (GRCm39) I276V possibly damaging Het
Tmem94 C A 11: 115,680,835 (GRCm39) H113N probably damaging Het
Vil1 G A 1: 74,467,397 (GRCm39) D715N probably damaging Het
Vmn2r96 A G 17: 18,803,226 (GRCm39) T187A probably benign Het
Zfhx4 T A 3: 5,478,154 (GRCm39) S3590T probably damaging Het
Other mutations in Rlig1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4742: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
Posted On 2013-10-07