Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01125:Rag1'

50580

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 #

IGL01125

Quality Score

Status

Chromosome

Chromosomal Location

101468627-101479846 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101472346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 932 (I932T)

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: I932T

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

SMART Domains

Protein: ENSMUSP00000077584
Gene: ENSMUSG00000061311
AA Change: I932T

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

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg2	C	T	X: 159,275,704 (GRCm39)	T931I	probably damaging	Het
Atp5mc3	A	G	2: 73,741,293 (GRCm39)		probably benign	Het
Btd	T	A	14: 31,389,733 (GRCm39)	F485I	probably benign	Het
Camk2d	A	G	3: 126,591,934 (GRCm39)		probably benign	Het
Cd300lg	A	T	11: 101,945,047 (GRCm39)		probably benign	Het
Col9a1	A	G	1: 24,263,726 (GRCm39)		probably null	Het
Cybb	T	A	X: 9,312,983 (GRCm39)	N367I	possibly damaging	Het
Dcaf17	T	C	2: 70,920,149 (GRCm39)	V479A	probably benign	Het
Dscaml1	G	T	9: 45,660,930 (GRCm39)		probably null	Het
Espl1	T	C	15: 102,231,373 (GRCm39)	F51S	probably damaging	Het
Gsdmc3	T	A	15: 63,733,306 (GRCm39)	D258V	probably benign	Het
Gvin-ps3	A	T	7: 105,682,021 (GRCm39)	N411K	unknown	Het
Ifngr1	C	T	10: 19,473,161 (GRCm39)		probably benign	Het
Kcnip1	A	T	11: 33,583,202 (GRCm39)	D194E	probably damaging	Het
Lrrtm1	C	T	6: 77,221,436 (GRCm39)	R298C	probably damaging	Het
Map3k4	G	A	17: 12,490,849 (GRCm39)	S194L	probably damaging	Het
Mmp16	A	G	4: 18,112,066 (GRCm39)	K481E	possibly damaging	Het
Myh1	A	T	11: 67,111,486 (GRCm39)	M1642L	probably benign	Het
Nol9	G	T	4: 152,131,066 (GRCm39)	C363F	probably damaging	Het
Nsd1	T	C	13: 55,393,430 (GRCm39)	S344P	probably damaging	Het
Or52e5	A	T	7: 104,718,808 (GRCm39)	I45F	probably benign	Het
Phf20	G	A	2: 156,145,104 (GRCm39)		probably null	Het
Ppp3cc	G	T	14: 70,455,701 (GRCm39)	H467Q	probably damaging	Het
Rab28	A	G	5: 41,793,237 (GRCm39)	M136T	probably benign	Het
Sez6	T	C	11: 77,868,115 (GRCm39)		probably benign	Het
Slc49a3	A	G	5: 108,592,458 (GRCm39)		probably benign	Het
Sorcs1	T	C	19: 50,216,639 (GRCm39)	T647A	probably damaging	Het
Sspo	T	A	6: 48,469,822 (GRCm39)	C4507S	probably damaging	Het
Traf3ip3	T	C	1: 192,866,772 (GRCm39)		probably null	Het
Vmn2r121	T	A	X: 123,042,504 (GRCm39)	I218F	probably damaging	Het
Vmn2r61	A	G	7: 41,909,550 (GRCm39)	Y25C	probably damaging	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
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
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

2013-06-21