Mutagenetix > Incidental Mutation

Incidental Mutation 'R6412:Rag1'

514617

Institutional Source

Beutler Lab

Gene Symbol

Rag1

Ensembl Gene

ENSMUSG00000061311

Gene Name

recombination activating 1

Synonyms

Rag-1

MMRRC Submission

044385-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.391) question?

Stock #

R6412 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101468627-101479846 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101472865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 759 (V759A)

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: V759A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000077584
Gene: ENSMUSG00000061311
AA Change: V759A

Domain	Start	End	E-Value	Type
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

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	A	G	9: 107,807,116 (GRCm39)	I480V	probably benign	Het
BC025920	T	C	10: 81,445,195 (GRCm39)	V106A	probably benign	Het
Bhlhe23	A	G	2: 180,417,963 (GRCm39)	F192L	possibly damaging	Het
Cftr	C	T	6: 18,285,603 (GRCm39)	T1137I	probably damaging	Het
Chst8	T	C	7: 34,375,504 (GRCm39)	M112V	probably benign	Het
Cilk1	T	C	9: 78,047,258 (GRCm39)	S53P	probably damaging	Het
Fbxw26	T	A	9: 109,561,715 (GRCm39)	M160L	probably damaging	Het
Gm3264	A	G	14: 16,058,238 (GRCm39)	K81R	probably damaging	Het
Htr3b	T	C	9: 48,857,819 (GRCm39)	N141S	possibly damaging	Het
Itgb2l	T	C	16: 96,228,929 (GRCm39)	S425G	probably benign	Het
Kbtbd12	T	C	6: 88,595,638 (GRCm39)	E64G	probably damaging	Het
Lct	T	C	1: 128,255,455 (GRCm39)	T196A	probably benign	Het
Luzp2	T	C	7: 54,707,794 (GRCm39)	S61P	probably damaging	Het
Or4b1b	G	T	2: 90,112,202 (GRCm39)	A239D	probably damaging	Het
Or5l14	A	T	2: 87,792,693 (GRCm39)	L181Q	probably damaging	Het
Ret	C	T	6: 118,161,245 (GRCm39)	R77H	probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Sbno1	T	C	5: 124,530,777 (GRCm39)	T840A	probably damaging	Het
Skic2	A	G	17: 35,059,276 (GRCm39)	V1057A	possibly damaging	Het
Spocd1	C	T	4: 129,847,365 (GRCm39)	S518L	probably benign	Het
Thbs2	A	C	17: 14,897,339 (GRCm39)	L723R	probably damaging	Het
Vmn1r223	G	T	13: 23,433,825 (GRCm39)	V140F	probably benign	Het
Vmn2r52	A	G	7: 9,904,936 (GRCm39)	V301A	probably benign	Het
Vwf	T	C	6: 125,656,279 (GRCm39)	F2615L	probably benign	Het
Wdr81	G	T	11: 75,341,989 (GRCm39)	P1093T	probably benign	Het
Xdh	T	C	17: 74,242,902 (GRCm39)	E135G	probably benign	Het
Zfp990	C	A	4: 145,264,138 (GRCm39)	P379T	probably benign	Het

Other mutations in Rag1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- TCCGGAGATGTTTGTCCAGC -3'
(R):5'- GACTTTTAAATTCATCTTCAGGGGC -3'

Sequencing Primer
(F):5'- AGGCATTGGGATGTTTATACACTTCC -3'
(R):5'- CACTGGATACGATGAAAAACTTGTCC -3'

Posted On

2018-05-04