Mutagenetix > Incidental Mutation

Incidental Mutation 'R7071:Rag1'

548892

Institutional Source

Beutler Lab

Gene Symbol

Rag1

Ensembl Gene

ENSMUSG00000061311

Gene Name

recombination activating 1

Synonyms

Rag-1

MMRRC Submission

045167-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.429) question?

Stock #

R7071 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101468627-101479846 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101473807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 445 (H445R)

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: H445R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000077584
Gene: ENSMUSG00000061311
AA Change: H445R

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

95% (41/43)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,449,503 (GRCm39)	Q854*	probably null	Het
Arl2bp	G	T	8: 95,393,794 (GRCm39)		probably benign	Het
Astl	T	C	2: 127,187,885 (GRCm39)	M121T	probably benign	Het
Atrip	T	C	9: 108,896,082 (GRCm39)		probably null	Het
Camk1g	A	T	1: 193,042,117 (GRCm39)	V44E	probably benign	Het
Cc2d2a	A	G	5: 43,866,455 (GRCm39)	H804R	probably benign	Het
Cd300a	T	C	11: 114,792,099 (GRCm39)	S314P	probably damaging	Het
Ceacam5	A	T	7: 17,484,577 (GRCm39)	I440L	possibly damaging	Het
Cfap61	T	G	2: 145,843,832 (GRCm39)	I306R	probably benign	Het
Cnot10	T	C	9: 114,446,787 (GRCm39)		probably null	Het
Cntln	T	A	4: 85,018,622 (GRCm39)	L76Q	probably damaging	Het
Cobl	A	G	11: 12,204,795 (GRCm39)	C636R	probably benign	Het
Dnm3	A	T	1: 161,847,412 (GRCm39)	H148Q	probably damaging	Het
Dot1l	T	A	10: 80,628,079 (GRCm39)	L1039Q	probably benign	Het
Faiml	T	A	9: 99,118,400 (GRCm39)	M1L	unknown	Het
Fat1	T	G	8: 45,442,145 (GRCm39)	I1149S	possibly damaging	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gm11938	A	T	11: 99,493,910 (GRCm39)	C62S	probably damaging	Het
Gtf2i	A	G	5: 134,292,475 (GRCm39)	L423S	probably damaging	Het
Hmcn1	A	T	1: 150,479,853 (GRCm39)	C4582S	probably damaging	Het
Ifitm3	A	G	7: 140,590,437 (GRCm39)	V41A	probably benign	Het
Ipo11	T	A	13: 107,061,604 (GRCm39)	S19C	probably damaging	Het
Khsrp	C	A	17: 57,332,386 (GRCm39)	M268I	possibly damaging	Het
Lrp1b	T	G	2: 41,298,276 (GRCm39)	D1036A		Het
Mecom	T	G	3: 30,034,857 (GRCm39)	H273P	probably damaging	Het
Mfn1	G	A	3: 32,622,544 (GRCm39)	V601I	probably benign	Het
Mrps5	T	A	2: 127,442,772 (GRCm39)	Y280*	probably null	Het
Myo18a	A	G	11: 77,714,653 (GRCm39)	T811A	probably damaging	Het
Ndfip2	A	C	14: 105,539,760 (GRCm39)	N292H	possibly damaging	Het
Or2ak5	C	A	11: 58,610,984 (GRCm39)	V297F	possibly damaging	Het
Otog	T	A	7: 45,916,747 (GRCm39)	C895S	probably damaging	Het
Pacs1	A	T	19: 5,206,402 (GRCm39)	I261N	possibly damaging	Het
Pira13	A	G	7: 3,824,667 (GRCm39)	S573P	unknown	Het
Ptprn	A	T	1: 75,237,263 (GRCm39)	M113K	possibly damaging	Het
Ranbp2	T	G	10: 58,328,659 (GRCm39)	F2853V	probably damaging	Het
Skint5	A	T	4: 113,636,277 (GRCm39)	F647Y	unknown	Het
Stt3b	T	C	9: 115,083,085 (GRCm39)	Y449C	probably damaging	Het
Ythdc2	A	G	18: 44,978,855 (GRCm39)	D455G	probably benign	Het
Zfp451	A	C	1: 33,815,825 (GRCm39)	D708E	possibly damaging	Het
Zfp456	T	C	13: 67,520,896 (GRCm39)	E33G	probably damaging	Het
Zfp599	T	C	9: 22,169,392 (GRCm39)	T27A	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
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
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'- TTCCGAAGAGCATGCAAAGG -3'
(R):5'- TATAACCACCATGTGTCAAGCC -3'

Sequencing Primer
(F):5'- GGTTGAAAAATCTGCCTCCCAGTG -3'
(R):5'- CTTTGGTGCATATCAATAAAGGGG -3'

Posted On

2019-05-15