Incidental Mutation 'R6633:Rag1'
ID 525274
Institutional Source Beutler Lab
Gene Symbol Rag1
Ensembl Gene ENSMUSG00000061311
Gene Name recombination activating 1
Synonyms Rag-1
MMRRC Submission 044755-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.391) question?
Stock # R6633 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 101468627-101479846 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101473055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 696 (R696W)
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 probably damaging
Transcript: ENSMUST00000078494
AA Change: R696W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077584
Gene: ENSMUSG00000061311
AA Change: R696W

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 100% (50/50)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf C A 11: 84,402,308 (GRCm39) probably null Het
Acot7 C T 4: 152,262,716 (GRCm39) P30L probably benign Het
Adam24 T G 8: 41,133,526 (GRCm39) D331E probably benign Het
Adamdec1 T C 14: 68,810,601 (GRCm39) D185G probably benign Het
Adgrg7 T C 16: 56,550,649 (GRCm39) I688V probably benign Het
Adgrv1 A T 13: 81,716,762 (GRCm39) F779I probably damaging Het
Agtr1a A G 13: 30,565,450 (GRCm39) I172V probably benign Het
Anapc4 C T 5: 53,023,288 (GRCm39) H710Y possibly damaging Het
Arf1 T C 11: 59,103,370 (GRCm39) N179S probably benign Het
Arhgef40 C T 14: 52,234,888 (GRCm39) P1064S probably damaging Het
Btnl1 A G 17: 34,604,305 (GRCm39) N362S possibly damaging Het
Ccdc80 T C 16: 44,915,271 (GRCm39) F9S possibly damaging Het
Ccdc96 G A 5: 36,642,533 (GRCm39) E180K probably benign Het
Cdh2 A T 18: 16,773,605 (GRCm39) N241K probably benign Het
Cdk8 C A 5: 146,235,656 (GRCm39) S261* probably null Het
Csf2rb2 T C 15: 78,173,152 (GRCm39) E236G probably benign Het
Dgcr8 A T 16: 18,102,046 (GRCm39) S79T possibly damaging Het
Dnah5 A T 15: 28,293,933 (GRCm39) Y1346F probably benign Het
Dock6 A G 9: 21,731,627 (GRCm39) V1194A probably benign Het
Dock6 A G 9: 21,732,799 (GRCm39) S1129P probably damaging Het
Ephb2 C G 4: 136,411,307 (GRCm39) S451T probably benign Het
Esco1 T A 18: 10,595,738 (GRCm39) probably benign Het
Fcer1a C G 1: 173,054,293 (GRCm39) probably null Het
Gbx2 TCCCCC TCCCCCC 1: 89,856,442 (GRCm39) probably null Het
Gm44511 T A 6: 128,803,205 (GRCm39) D2V probably damaging Het
H2-Q2 A G 17: 35,561,363 (GRCm39) T19A probably damaging Het
Herc1 G T 9: 66,346,534 (GRCm39) E1967* probably null Het
Hic1 G T 11: 75,060,324 (GRCm39) H8N unknown Het
Irx4 G T 13: 73,416,545 (GRCm39) A314S probably benign Het
Jarid2 C A 13: 45,038,353 (GRCm39) H84N probably damaging Het
Klk1b27 A T 7: 43,705,234 (GRCm39) I134F probably damaging Het
Kprp T C 3: 92,732,600 (GRCm39) Y150C probably damaging Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Lrp10 T C 14: 54,706,531 (GRCm39) V489A probably benign Het
Mrgpra6 A G 7: 46,838,493 (GRCm39) I235T possibly damaging Het
Naip1 A G 13: 100,559,584 (GRCm39) M1140T probably benign Het
Naip1 C T 13: 100,559,593 (GRCm39) R1137Q probably benign Het
Or4c12 T C 2: 89,773,710 (GRCm39) I250V probably benign Het
Plcl2 A G 17: 50,947,168 (GRCm39) I1016V probably benign Het
Plekhb1 A G 7: 100,294,846 (GRCm39) Y122H probably damaging Het
Polr2a A G 11: 69,626,339 (GRCm39) S1604P possibly damaging Het
Ppp6r2 G A 15: 89,137,458 (GRCm39) probably null Het
Rusc2 T C 4: 43,414,852 (GRCm39) F53L probably damaging Het
Rxylt1 G A 10: 121,932,958 (GRCm39) R7W probably damaging Het
Tango6 T C 8: 107,444,637 (GRCm39) V514A probably benign Het
Tex30 A C 1: 44,127,084 (GRCm39) H64Q probably benign Het
Tmbim7 A G 5: 3,707,659 (GRCm39) probably null Het
Tpcn1 A G 5: 120,682,529 (GRCm39) M493T probably benign Het
Tpx2 T G 2: 152,709,274 (GRCm39) F35V probably damaging Het
Vmn1r3 G A 4: 3,184,971 (GRCm39) T112I probably benign Het
Wnt2b T C 3: 104,858,372 (GRCm39) Y299C 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
IGL02216:Rag1 APN 2 101,473,726 (GRCm39) missense possibly damaging 0.91
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
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
Predicted Primers PCR Primer
(F):5'- CTTCCACGGACTCATGATACGG -3'
(R):5'- GTGAAGGTGTTTGAGGAACCC -3'

Sequencing Primer
(F):5'- ACTCATGATACGGATTGGACC -3'
(R):5'- TGTTTGAGGAACCCAAGCC -3'
Posted On 2018-06-22