Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01979:Rad50'

181796

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rad50

Ensembl Gene

ENSMUSG00000020380

Gene Name

RAD50 double strand break repair protein

Synonyms

Rad50l, Mrell

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01979

Quality Score

Status

Chromosome

Chromosomal Location

53540346-53598146 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 53577005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 528 (Q528*)

Ref Sequence

ENSEMBL: ENSMUSP00000119618 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020649] [ENSMUST00000124352] [ENSMUST00000128483]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000020649
AA Change: Q589*

SMART Domains

Protein: ENSMUSP00000020649
Gene: ENSMUSG00000020380
AA Change: Q589*

Domain	Start	End	E-Value	Type
Pfam:AAA_23	6	295	1.8e-31	PFAM
coiled coil region	397	534	N/A	INTRINSIC
Pfam:Rad50_zn_hook	659	712	9.9e-16	PFAM
low complexity region	825	836	N/A	INTRINSIC
low complexity region	919	929	N/A	INTRINSIC
coiled coil region	1019	1075	N/A	INTRINSIC
Pfam:SbcCD_C	1174	1251	1.1e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000124352
AA Change: Q528*

SMART Domains

Protein: ENSMUSP00000119618
Gene: ENSMUSG00000020380
AA Change: Q528*

Domain	Start	End	E-Value	Type
Pfam:AAA_23	6	290	2.7e-24	PFAM
coiled coil region	397	469	N/A	INTRINSIC
Pfam:Rad50_zn_hook	597	652	1.9e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128483

SMART Domains

Protein: ENSMUSP00000120869
Gene: ENSMUSG00000020380

Domain	Start	End	E-Value	Type
Pfam:AAA_23	6	295	6e-23	PFAM
coiled coil region	397	534	N/A	INTRINSIC

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 highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.[provided by RefSeq, Apr 2010]
PHENOTYPE: Homozygotes for a targeted hypomorphic mutation exhibit growth defects, predisposition toward cancer, progressive loss of hematopoietic and spermatogenic stem cells, and lethality due to bone marrow depletion. A null mutation results in embryonic death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh4	C	T	3: 138,134,788 (GRCm39)		probably benign	Het
Ap3b1	T	A	13: 94,584,971 (GRCm39)	L394*	probably null	Het
Cdk2ap1	C	T	5: 124,486,772 (GRCm39)	V57M	probably damaging	Het
Csnk2b	T	A	17: 35,336,992 (GRCm39)	N65I	possibly damaging	Het
Dennd4a	G	A	9: 64,801,691 (GRCm39)	E945K	probably benign	Het
Eif2b2	A	G	12: 85,266,608 (GRCm39)	D59G	probably benign	Het
Ero1a	A	T	14: 45,525,201 (GRCm39)	N441K	probably damaging	Het
Fam91a1	A	G	15: 58,304,433 (GRCm39)	D383G	probably damaging	Het
Fbxl7	C	A	15: 26,789,649 (GRCm39)	S26I	probably damaging	Het
Il20	A	T	1: 130,838,839 (GRCm39)	I42K	probably damaging	Het
Nav3	A	G	10: 109,540,790 (GRCm39)	F1947L	probably benign	Het
Ncapd3	T	A	9: 26,983,261 (GRCm39)		probably null	Het
Numb	G	T	12: 83,889,051 (GRCm39)	H23N	probably damaging	Het
Or10q3	G	A	19: 11,848,587 (GRCm39)		probably benign	Het
Or5p79	A	G	7: 108,221,648 (GRCm39)	I210V	probably benign	Het
Ppp1r1b	C	T	11: 98,247,666 (GRCm39)	T111I	probably damaging	Het
Scara3	A	T	14: 66,168,412 (GRCm39)	S402T	probably benign	Het
Septin3	A	G	15: 82,168,593 (GRCm39)	Y132C	probably damaging	Het
Sim2	C	A	16: 93,924,341 (GRCm39)	N495K	possibly damaging	Het
Slc9b1	A	G	3: 135,077,743 (GRCm39)		probably null	Het
Tanc2	A	G	11: 105,667,746 (GRCm39)	D109G	probably benign	Het
Tex55	A	C	16: 38,648,255 (GRCm39)	S285A	possibly damaging	Het
Traf1	T	C	2: 34,833,905 (GRCm39)	I404V	probably benign	Het
Vmn2r68	C	A	7: 84,871,325 (GRCm39)	V653L	probably benign	Het
Wdr93	A	T	7: 79,426,400 (GRCm39)	Q555L	probably benign	Het

Other mutations in Rad50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00477:Rad50	APN	11	53,577,138 (GRCm39)	intron	probably benign
IGL00709:Rad50	APN	11	53,560,469 (GRCm39)	missense	possibly damaging	0.49
IGL01080:Rad50	APN	11	53,596,895 (GRCm39)	missense	probably damaging	1.00
IGL01357:Rad50	APN	11	53,597,848 (GRCm39)	missense	probably damaging	1.00
IGL02481:Rad50	APN	11	53,570,876 (GRCm39)	missense	probably benign	0.20
IGL02483:Rad50	APN	11	53,570,876 (GRCm39)	missense	probably benign	0.20
IGL02673:Rad50	APN	11	53,579,067 (GRCm39)	missense	probably benign	0.19
IGL02754:Rad50	APN	11	53,592,883 (GRCm39)	missense	probably damaging	1.00
IGL03372:Rad50	APN	11	53,586,121 (GRCm39)	missense	probably benign	0.20
PIT4131001:Rad50	UTSW	11	53,585,726 (GRCm39)	critical splice donor site	probably null
R0035:Rad50	UTSW	11	53,545,854 (GRCm39)	splice site	probably benign
R0035:Rad50	UTSW	11	53,545,854 (GRCm39)	splice site	probably benign
R0270:Rad50	UTSW	11	53,558,852 (GRCm39)	missense	probably damaging	1.00
R0373:Rad50	UTSW	11	53,541,346 (GRCm39)	missense	probably damaging	1.00
R0567:Rad50	UTSW	11	53,545,783 (GRCm39)	missense	probably damaging	1.00
R1132:Rad50	UTSW	11	53,585,788 (GRCm39)	missense	possibly damaging	0.58
R1249:Rad50	UTSW	11	53,582,964 (GRCm39)	missense	probably damaging	0.99
R1368:Rad50	UTSW	11	53,574,072 (GRCm39)	nonsense	probably null
R1501:Rad50	UTSW	11	53,578,978 (GRCm39)	missense	possibly damaging	0.68
R1506:Rad50	UTSW	11	53,570,312 (GRCm39)	missense	probably damaging	0.98
R1633:Rad50	UTSW	11	53,583,686 (GRCm39)	missense	probably benign	0.00
R1663:Rad50	UTSW	11	53,559,050 (GRCm39)	missense	probably benign	0.01
R1847:Rad50	UTSW	11	53,592,934 (GRCm39)	missense	possibly damaging	0.68
R1933:Rad50	UTSW	11	53,570,888 (GRCm39)	missense	probably benign	0.16
R2176:Rad50	UTSW	11	53,589,036 (GRCm39)	missense	probably benign	0.00
R2519:Rad50	UTSW	11	53,598,012 (GRCm39)	start gained	probably benign
R3027:Rad50	UTSW	11	53,586,208 (GRCm39)	missense	probably benign	0.00
R3894:Rad50	UTSW	11	53,569,697 (GRCm39)	missense	probably benign	0.01
R4181:Rad50	UTSW	11	53,592,832 (GRCm39)	missense	probably benign	0.00
R4302:Rad50	UTSW	11	53,592,832 (GRCm39)	missense	probably benign	0.00
R4836:Rad50	UTSW	11	53,541,480 (GRCm39)	missense	probably damaging	1.00
R4934:Rad50	UTSW	11	53,575,102 (GRCm39)	missense	probably benign	0.05
R5047:Rad50	UTSW	11	53,565,523 (GRCm39)	critical splice donor site	probably null
R5201:Rad50	UTSW	11	53,589,647 (GRCm39)	critical splice donor site	probably null
R5325:Rad50	UTSW	11	53,583,690 (GRCm39)	missense	probably benign	0.16
R5368:Rad50	UTSW	11	53,575,073 (GRCm39)	missense	probably benign	0.02
R5403:Rad50	UTSW	11	53,586,108 (GRCm39)	critical splice donor site	probably null
R5421:Rad50	UTSW	11	53,565,773 (GRCm39)	missense	probably benign	0.02
R6282:Rad50	UTSW	11	53,560,597 (GRCm39)	splice site	probably null
R6468:Rad50	UTSW	11	53,582,971 (GRCm39)	missense	possibly damaging	0.81
R6469:Rad50	UTSW	11	53,575,062 (GRCm39)	missense	probably benign	0.08
R6528:Rad50	UTSW	11	53,543,109 (GRCm39)	missense	probably damaging	1.00
R6704:Rad50	UTSW	11	53,589,745 (GRCm39)	missense	probably damaging	1.00
R6886:Rad50	UTSW	11	53,577,011 (GRCm39)	missense	probably benign	0.01
R7055:Rad50	UTSW	11	53,578,929 (GRCm39)	missense	probably benign	0.02
R7268:Rad50	UTSW	11	53,575,102 (GRCm39)	missense	probably benign	0.01
R7288:Rad50	UTSW	11	53,545,776 (GRCm39)	nonsense	probably null
R7375:Rad50	UTSW	11	53,543,055 (GRCm39)	splice site	probably null
R7380:Rad50	UTSW	11	53,586,223 (GRCm39)	missense	probably benign	0.00
R7467:Rad50	UTSW	11	53,545,735 (GRCm39)	missense	probably damaging	1.00
R7533:Rad50	UTSW	11	53,589,746 (GRCm39)	missense	probably damaging	1.00
R8289:Rad50	UTSW	11	53,589,685 (GRCm39)	nonsense	probably null
R8345:Rad50	UTSW	11	53,574,968 (GRCm39)	missense	probably benign	0.00
R8368:Rad50	UTSW	11	53,574,155 (GRCm39)	missense	possibly damaging	0.83
R8514:Rad50	UTSW	11	53,569,766 (GRCm39)	nonsense	probably null
R8986:Rad50	UTSW	11	53,541,354 (GRCm39)	missense	possibly damaging	0.64
R9182:Rad50	UTSW	11	53,583,590 (GRCm39)	missense	probably benign	0.00

Posted On

2014-05-07