Incidental Mutation 'IGL02271:Rag1'
ID287121
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rag1
Ensembl Gene ENSMUSG00000061311
Gene Namerecombination activating gene 1
SynonymsRag-1
Accession Numbers

MGI:97848

Is this an essential gene? Possibly non essential (E-score: 0.441) question?
Stock #IGL02271
Quality Score
Status
Chromosome2
Chromosomal Location101638282-101649501 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 101643388 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 470 (I470F)
Ref Sequence ENSEMBL: ENSMUSP00000077584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078494] [ENSMUST00000160037] [ENSMUST00000160722]
PDB Structure
RAG1 DIMERIZATION DOMAIN [X-RAY DIFFRACTION]
Crystal structure of the RAG1 nonamer-binding domain with DNA [X-RAY DIFFRACTION]
Crystal structure of the RAG1 nonamer-binding domain with DNA [X-RAY DIFFRACTION]
Crystal structure of the core RAG1/2 recombinase [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000078494
AA Change: I470F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000077584
Gene: ENSMUSG00000061311
AA Change: I470F

DomainStartEndE-ValueType
Pfam:RAG1_imp_bd 11 288 5.7e-120 PFAM
RING 290 328 1.39e-3 SMART
ZnF_C2H2 353 376 2.61e1 SMART
PDB:3GNB|A 389 464 3e-44 PDB
ZnF_C2H2 725 750 7e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160037
Predicted Effect probably benign
Transcript: ENSMUST00000160722
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177171
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in activation of immunoglobulin V-D-J recombination. The encoded protein is involved in recognition of the DNA substrate, but stable binding and cleavage activity also requires RAG2. Defects in this gene can be the cause of several diseases. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit arrested development of T and B cell maturation at the CD4-8- thymocyte or B220+/CD43+pro-B cell stage due to inability to undergo V(D)J recombination. [provided by MGI curators]
Allele List at MGI

All alleles(13) : Targeted(10) Chemically induced(3)

Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Astn1 C T 1: 158,510,950 probably benign Het
Bms1 C A 6: 118,389,329 V1068F probably benign Het
Cand1 A T 10: 119,211,721 N621K probably damaging Het
Cd44 C T 2: 102,831,387 E418K possibly damaging Het
Clip2 A T 5: 134,502,571 N758K probably benign Het
Cst11 A T 2: 148,771,241 Y55N probably damaging Het
Cytip A T 2: 58,133,860 L316* probably null Het
Ddx52 T C 11: 83,952,231 M352T probably damaging Het
Fancd2 G A 6: 113,535,759 probably benign Het
Fat4 A T 3: 38,979,919 E2573D probably benign Het
Fbxl13 T G 5: 21,490,456 D646A probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Grid2ip A G 5: 143,388,909 D928G probably benign Het
Hmgxb3 A G 18: 61,132,213 L1231P probably damaging Het
Ifitm7 A G 16: 13,983,677 F73L probably damaging Het
Ikbkb T A 8: 22,665,903 T583S probably benign Het
Kdm6b G A 11: 69,406,067 A458V possibly damaging Het
Klra2 T C 6: 131,230,217 K143R probably benign Het
Kmt2d A G 15: 98,866,428 S42P possibly damaging Het
Krt78 T A 15: 101,948,593 M360L probably benign Het
Lamb1 A G 12: 31,300,251 N677S probably damaging Het
Lrrc9 G A 12: 72,510,381 V1407I probably benign Het
Myo6 A G 9: 80,260,831 T426A probably benign Het
Net1 T C 13: 3,887,663 Y146C probably damaging Het
Nlrp4d T A 7: 10,388,698 noncoding transcript Het
Notch4 A T 17: 34,568,471 N335I probably damaging Het
Olfr127 A T 17: 37,904,243 E232D probably benign Het
Olfr202 A T 16: 59,284,221 I92K probably damaging Het
Olfr920 A T 9: 38,756,488 T267S probably benign Het
Pax3 A T 1: 78,195,332 H80Q probably damaging Het
Pclo A T 5: 14,679,494 probably benign Het
Pdgfra A G 5: 75,187,906 D869G probably damaging Het
Per2 T C 1: 91,445,610 Y152C probably damaging Het
Pilrb2 T C 5: 137,866,863 D223G probably benign Het
Rap1gap T C 4: 137,718,006 S333P probably damaging Het
Rundc3b A G 5: 8,492,530 Y430H probably damaging Het
Ryr1 T C 7: 29,094,047 D1332G probably benign Het
Sgo1 G A 17: 53,679,539 A208V possibly damaging Het
Skint5 C T 4: 113,937,581 probably null Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc28a3 A T 13: 58,558,637 S597T probably benign Het
Slc4a5 T A 6: 83,271,103 probably benign Het
Slc52a3 A G 2: 152,005,528 probably benign Het
Stac3 A G 10: 127,503,899 D158G probably benign Het
Tdo2 T C 3: 81,963,917 probably benign Het
Usp25 A T 16: 77,115,447 E1018V probably damaging Het
Vmn1r46 T A 6: 89,976,904 F245Y probably damaging Het
Other mutations in Rag1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00940:Rag1 APN 2 101642388 missense probably damaging 1.00
IGL01125:Rag1 APN 2 101642001 missense probably damaging 0.99
IGL01836:Rag1 APN 2 101641894 missense probably damaging 1.00
IGL02216:Rag1 APN 2 101643381 missense possibly damaging 0.91
IGL02293:Rag1 APN 2 101643046 missense probably benign 0.39
IGL02601:Rag1 APN 2 101642673 missense probably damaging 1.00
anne UTSW 2 101643516 missense probably damaging 0.99
busted UTSW 2 101641947 missense probably damaging 1.00
defective UTSW 2 101642710 missense probably damaging 1.00
doll UTSW 2 101642070 missense probably damaging 1.00
dysfunctional UTSW 2 101644284 missense probably damaging 1.00
huckle UTSW 2 101641223 intron probably benign
maladaptive UTSW 2 101645647 intron probably benign
R0658:Rag1 UTSW 2 101642683 missense probably damaging 0.99
R1126:Rag1 UTSW 2 101642689 missense probably damaging 1.00
R1177:Rag1 UTSW 2 101642278 missense probably benign 0.10
R1319:Rag1 UTSW 2 101643192 missense probably damaging 1.00
R1513:Rag1 UTSW 2 101642991 missense possibly damaging 0.95
R1859:Rag1 UTSW 2 101644062 missense probably benign 0.03
R2218:Rag1 UTSW 2 101644146 missense probably benign
R3932:Rag1 UTSW 2 101643039 missense probably damaging 1.00
R4127:Rag1 UTSW 2 101642071 missense probably damaging 1.00
R4365:Rag1 UTSW 2 101642943 missense probably damaging 1.00
R4620:Rag1 UTSW 2 101643680 missense probably damaging 1.00
R4815:Rag1 UTSW 2 101643516 missense probably damaging 0.99
R5070:Rag1 UTSW 2 101642311 missense probably damaging 1.00
R5209:Rag1 UTSW 2 101644215 missense probably benign 0.01
R5239:Rag1 UTSW 2 101642955 missense possibly damaging 0.91
R5390:Rag1 UTSW 2 101642734 missense probably benign
R5607:Rag1 UTSW 2 101643792 missense probably damaging 1.00
R6259:Rag1 UTSW 2 101644452 missense possibly damaging 0.83
R6412:Rag1 UTSW 2 101642520 missense probably damaging 0.99
R6633:Rag1 UTSW 2 101642710 missense probably damaging 1.00
R6679:Rag1 UTSW 2 101644284 missense probably damaging 1.00
R6723:Rag1 UTSW 2 101643645 missense probably damaging 0.99
R6853:Rag1 UTSW 2 101642221 missense probably damaging 0.99
R6867:Rag1 UTSW 2 101641947 missense probably damaging 1.00
R6974:Rag1 UTSW 2 101641792 missense probably damaging 0.99
R7071:Rag1 UTSW 2 101643462 missense probably damaging 0.99
R7124:Rag1 UTSW 2 101643783 missense probably damaging 0.99
R7248:Rag1 UTSW 2 101641778 missense probably damaging 0.99
R7256:Rag1 UTSW 2 101642070 missense probably damaging 1.00
R7567:Rag1 UTSW 2 101643661 missense probably damaging 0.98
R7581:Rag1 UTSW 2 101643304 missense possibly damaging 0.95
X0018:Rag1 UTSW 2 101643597 missense probably damaging 1.00
X0018:Rag1 UTSW 2 101644547 missense probably damaging 0.99
Posted On2015-04-16