Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00709:Rad50'

13730

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 #

IGL00709

Quality Score

Status

Chromosome

Chromosomal Location

53540346-53598146 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53560469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 1051 (L1051S)

Ref Sequence

ENSEMBL: ENSMUSP00000020649 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020649
AA Change: L1051S

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000020649
Gene: ENSMUSG00000020380
AA Change: L1051S

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

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: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6v1d	T	C	12: 78,896,528 (GRCm39)	H113R	probably benign	Het
Cd59a	A	G	2: 103,944,425 (GRCm39)	N91S	probably benign	Het
Ddx21	C	A	10: 62,434,181 (GRCm39)	E193*	probably null	Het
Mink1	T	A	11: 70,503,845 (GRCm39)	I1255N	probably damaging	Het
Orc1	G	T	4: 108,447,975 (GRCm39)		probably null	Het
Prelid2	T	A	18: 42,045,488 (GRCm39)	N141Y	probably damaging	Het
Sidt1	C	T	16: 44,082,374 (GRCm39)		probably benign	Het
Slc25a24	A	G	3: 109,066,670 (GRCm39)	K275E	probably damaging	Het
Stx19	A	G	16: 62,642,943 (GRCm39)	N253S	probably benign	Het
Tanc2	A	G	11: 105,689,621 (GRCm39)	Y261C	probably damaging	Het
Wdr62	A	G	7: 29,941,486 (GRCm39)	L706P	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
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
IGL01979:Rad50	APN	11	53,577,005 (GRCm39)	nonsense	probably null
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

2012-12-06