Incidental Mutation 'IGL02216:Rag1'
ID 284871
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rag1
Ensembl Gene ENSMUSG00000061311
Gene Name recombination activating 1
Synonyms Rag-1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.391) question?
Stock # IGL02216
Quality Score
Status
Chromosome 2
Chromosomal Location 101468627-101479846 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101473726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 472 (V472D)
Ref Sequence ENSEMBL: ENSMUSP00000077584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078494] [ENSMUST00000160037] [ENSMUST00000160722]
AlphaFold P15919
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 possibly damaging
Transcript: ENSMUST00000078494
AA Change: V472D

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000077584
Gene: ENSMUSG00000061311
AA Change: V472D

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544D05Rik T C 11: 70,507,005 (GRCm39) F48L possibly damaging Het
Adamts12 A G 15: 11,241,571 (GRCm39) N381S possibly damaging Het
Akp3 A T 1: 87,055,372 (GRCm39) Q473L probably damaging Het
Albfm1 T C 5: 90,727,438 (GRCm39) probably benign Het
Ap5s1 T A 2: 131,054,887 (GRCm39) probably benign Het
Atp10b T A 11: 43,150,616 (GRCm39) L1438Q probably damaging Het
B3galt4 G A 17: 34,169,539 (GRCm39) P233L probably damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cc2d1a C A 8: 84,865,942 (GRCm39) E393* probably null Het
Cd209a G T 8: 3,795,576 (GRCm39) T165N probably damaging Het
Chid1 T C 7: 141,076,506 (GRCm39) probably benign Het
Cln3 A T 7: 126,174,514 (GRCm39) probably null Het
Cped1 A T 6: 22,059,944 (GRCm39) R203S probably damaging Het
Dele1 A T 18: 38,385,913 (GRCm39) I102F probably damaging Het
Dnttip2 G T 3: 122,069,910 (GRCm39) W375L probably benign Het
Dync1h1 T C 12: 110,629,436 (GRCm39) F4280S probably damaging Het
Ephb4 A G 5: 137,370,332 (GRCm39) D844G possibly damaging Het
Fhl2 T A 1: 43,170,879 (GRCm39) E145V probably null Het
Gne T C 4: 44,044,761 (GRCm39) K458E probably benign Het
Grid2 G T 6: 64,322,650 (GRCm39) R550L probably damaging Het
Klhl1 T A 14: 96,360,658 (GRCm39) T731S probably benign Het
Kng1 T A 16: 22,877,283 (GRCm39) D30E probably damaging Het
Kyat1 A G 2: 30,077,264 (GRCm39) V158A probably benign Het
Mcm8 G T 2: 132,681,449 (GRCm39) V642F probably damaging Het
Mdn1 C T 4: 32,739,092 (GRCm39) H3638Y probably benign Het
Neb T G 2: 52,116,502 (GRCm39) T4158P probably benign Het
Neo1 T C 9: 58,824,336 (GRCm39) I697M probably damaging Het
Nfkb1 A T 3: 135,300,724 (GRCm39) V614D probably damaging Het
Or7e169 G A 9: 19,757,861 (GRCm39) S18L probably damaging Het
Otog T C 7: 45,950,892 (GRCm39) S2555P probably damaging Het
Pkd1l1 T A 11: 8,784,897 (GRCm39) R1962S probably damaging Het
Plxnb1 A G 9: 108,929,918 (GRCm39) Y258C probably damaging Het
Pramel12 T A 4: 143,144,298 (GRCm39) probably null Het
Prl3a1 A G 13: 27,454,127 (GRCm39) D35G probably benign Het
Rbpj-ps3 G A 6: 46,506,641 (GRCm39) probably benign Het
Rnf112 C T 11: 61,340,804 (GRCm39) V472M probably damaging Het
Rps18 A G 17: 34,171,015 (GRCm39) probably benign Het
Rptn T C 3: 93,303,080 (GRCm39) S138P possibly damaging Het
Sbpl A C 17: 24,172,690 (GRCm39) N76K probably benign Het
Sh3bp1 A T 15: 78,789,364 (GRCm39) M241L probably benign Het
Slc22a17 T C 14: 55,145,433 (GRCm39) *198W probably null Het
Smc3 C T 19: 53,610,275 (GRCm39) R221C probably damaging Het
Snai1 A G 2: 167,380,768 (GRCm39) E87G probably benign Het
Snx22 C A 9: 65,976,470 (GRCm39) A49S probably benign Het
Tas2r143 A T 6: 42,377,268 (GRCm39) R33* probably null Het
Try4 A G 6: 41,281,965 (GRCm39) I184V probably benign Het
Ttn T A 2: 76,584,896 (GRCm39) K20355* probably null Het
Ttn A G 2: 76,622,069 (GRCm39) V15491A probably benign Het
Tut7 T C 13: 59,948,237 (GRCm39) T293A probably benign Het
Vmn1r170 A G 7: 23,305,915 (GRCm39) T106A probably damaging Het
Vmn2r59 A T 7: 41,661,817 (GRCm39) V666E probably damaging Het
Vsx1 T C 2: 150,526,495 (GRCm39) N221S possibly damaging Het
Zfp846 A G 9: 20,499,905 (GRCm39) E45G probably damaging Het
Other mutations in Rag1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00940:Rag1 APN 2 101,472,733 (GRCm39) missense probably damaging 1.00
IGL01125:Rag1 APN 2 101,472,346 (GRCm39) missense probably damaging 0.99
IGL01836:Rag1 APN 2 101,472,239 (GRCm39) missense probably damaging 1.00
IGL02271:Rag1 APN 2 101,473,733 (GRCm39) missense probably damaging 0.99
IGL02293:Rag1 APN 2 101,473,391 (GRCm39) missense probably benign 0.39
IGL02601:Rag1 APN 2 101,473,018 (GRCm39) missense probably damaging 1.00
Anne UTSW 2 101,473,861 (GRCm39) missense probably damaging 0.99
busted UTSW 2 101,472,292 (GRCm39) missense probably damaging 1.00
cloth UTSW 2 101,473,009 (GRCm39) missense probably damaging 1.00
defective UTSW 2 101,473,055 (GRCm39) missense probably damaging 1.00
doll UTSW 2 101,472,415 (GRCm39) missense probably damaging 1.00
dysfunctional UTSW 2 101,474,629 (GRCm39) missense probably damaging 1.00
furchte UTSW 2 101,474,852 (GRCm39) missense probably benign 0.05
horrorshow UTSW 2 101,472,968 (GRCm39) missense probably damaging 1.00
huckle UTSW 2 101,471,568 (GRCm39) intron probably benign
maladaptive UTSW 2 101,645,647 (GRCm38) intron probably benign
scarecrow UTSW 2 101,472,852 (GRCm39) missense probably damaging 1.00
R0658:Rag1 UTSW 2 101,473,028 (GRCm39) missense probably damaging 0.99
R1126:Rag1 UTSW 2 101,473,034 (GRCm39) missense probably damaging 1.00
R1177:Rag1 UTSW 2 101,472,623 (GRCm39) missense probably benign 0.10
R1319:Rag1 UTSW 2 101,473,537 (GRCm39) missense probably damaging 1.00
R1513:Rag1 UTSW 2 101,473,336 (GRCm39) missense possibly damaging 0.95
R1859:Rag1 UTSW 2 101,474,407 (GRCm39) missense probably benign 0.03
R2218:Rag1 UTSW 2 101,474,491 (GRCm39) missense probably benign
R3932:Rag1 UTSW 2 101,473,384 (GRCm39) missense probably damaging 1.00
R4127:Rag1 UTSW 2 101,472,416 (GRCm39) missense probably damaging 1.00
R4365:Rag1 UTSW 2 101,473,288 (GRCm39) missense probably damaging 1.00
R4620:Rag1 UTSW 2 101,474,025 (GRCm39) missense probably damaging 1.00
R4815:Rag1 UTSW 2 101,473,861 (GRCm39) missense probably damaging 0.99
R5070:Rag1 UTSW 2 101,472,656 (GRCm39) missense probably damaging 1.00
R5209:Rag1 UTSW 2 101,474,560 (GRCm39) missense probably benign 0.01
R5239:Rag1 UTSW 2 101,473,300 (GRCm39) missense possibly damaging 0.91
R5390:Rag1 UTSW 2 101,473,079 (GRCm39) missense probably benign
R5607:Rag1 UTSW 2 101,474,137 (GRCm39) missense probably damaging 1.00
R6259:Rag1 UTSW 2 101,474,797 (GRCm39) missense possibly damaging 0.83
R6412:Rag1 UTSW 2 101,472,865 (GRCm39) missense probably damaging 0.99
R6633:Rag1 UTSW 2 101,473,055 (GRCm39) missense probably damaging 1.00
R6679:Rag1 UTSW 2 101,474,629 (GRCm39) missense probably damaging 1.00
R6723:Rag1 UTSW 2 101,473,990 (GRCm39) missense probably damaging 0.99
R6853:Rag1 UTSW 2 101,472,566 (GRCm39) missense probably damaging 0.99
R6867:Rag1 UTSW 2 101,472,292 (GRCm39) missense probably damaging 1.00
R6974:Rag1 UTSW 2 101,472,137 (GRCm39) missense probably damaging 0.99
R7071:Rag1 UTSW 2 101,473,807 (GRCm39) missense probably damaging 0.99
R7124:Rag1 UTSW 2 101,474,128 (GRCm39) missense probably damaging 0.99
R7248:Rag1 UTSW 2 101,472,123 (GRCm39) missense probably damaging 0.99
R7256:Rag1 UTSW 2 101,472,415 (GRCm39) missense probably damaging 1.00
R7567:Rag1 UTSW 2 101,474,006 (GRCm39) missense probably damaging 0.98
R7581:Rag1 UTSW 2 101,473,649 (GRCm39) missense possibly damaging 0.95
R7830:Rag1 UTSW 2 101,472,404 (GRCm39) missense probably damaging 1.00
R7941:Rag1 UTSW 2 101,472,691 (GRCm39) missense probably benign 0.24
R8024:Rag1 UTSW 2 101,472,852 (GRCm39) missense probably damaging 1.00
R8434:Rag1 UTSW 2 101,473,009 (GRCm39) missense probably damaging 1.00
R8688:Rag1 UTSW 2 101,472,968 (GRCm39) missense probably damaging 1.00
R8918:Rag1 UTSW 2 101,472,098 (GRCm39) missense probably benign
R9116:Rag1 UTSW 2 101,475,137 (GRCm39) missense probably benign 0.38
R9116:Rag1 UTSW 2 101,472,820 (GRCm39) missense probably damaging 1.00
R9210:Rag1 UTSW 2 101,474,852 (GRCm39) missense probably benign 0.05
R9409:Rag1 UTSW 2 101,473,192 (GRCm39) missense probably damaging 1.00
R9562:Rag1 UTSW 2 101,473,327 (GRCm39) missense probably damaging 1.00
R9565:Rag1 UTSW 2 101,473,327 (GRCm39) missense probably damaging 1.00
R9594:Rag1 UTSW 2 101,474,701 (GRCm39) missense probably benign
R9658:Rag1 UTSW 2 101,473,229 (GRCm39) missense possibly damaging 0.83
R9779:Rag1 UTSW 2 101,474,153 (GRCm39) missense probably damaging 1.00
X0018:Rag1 UTSW 2 101,474,892 (GRCm39) missense probably damaging 0.99
X0018:Rag1 UTSW 2 101,473,942 (GRCm39) missense probably damaging 1.00
Z1176:Rag1 UTSW 2 101,473,604 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16