Mutagenetix > Incidental Mutation

Incidental Mutation 'R2519:Rad50'

266185

Institutional Source

Beutler Lab

Gene Symbol

Rad50

Ensembl Gene

ENSMUSG00000020380

Gene Name

RAD50 double strand break repair protein

Synonyms

Rad50l, Mrell

MMRRC Submission

040423-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2519 (G1)

Quality Score

134

Status

Not validated

Chromosome

Chromosomal Location

53540346-53598146 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

G to A at 53598012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120869 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020649

SMART Domains

Protein: ENSMUSP00000020649
Gene: ENSMUSG00000020380

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 benign
Transcript: ENSMUST00000124352

SMART Domains

Protein: ENSMUSP00000119618
Gene: ENSMUSG00000020380

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

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (72/73)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933408J17Rik	G	A	10: 93,425,450 (GRCm39)		probably benign	Het
Abtb3	T	A	10: 85,487,475 (GRCm39)	V981D	probably damaging	Het
Actn1	A	T	12: 80,239,163 (GRCm39)	H247Q	probably damaging	Het
Adgre1	T	C	17: 57,717,956 (GRCm39)	C323R	probably damaging	Het
Adgrf2	T	A	17: 43,021,298 (GRCm39)	I509F	probably damaging	Het
Aknad1	A	T	3: 108,663,784 (GRCm39)	T331S	probably damaging	Het
Aldh1a3	T	C	7: 66,072,047 (GRCm39)	D39G	probably benign	Het
Alms1	C	A	6: 85,644,945 (GRCm39)		probably benign	Het
Ankhd1	T	G	18: 36,711,596 (GRCm39)		probably null	Het
Arfgef2	T	C	2: 166,723,164 (GRCm39)	S1535P	probably benign	Het
Bicc1	T	C	10: 70,766,474 (GRCm39)	E916G	probably damaging	Het
Birc2	A	T	9: 7,821,180 (GRCm39)	D381E	possibly damaging	Het
Carnmt1	A	G	19: 18,671,075 (GRCm39)	I316V	probably benign	Het
Cdk2ap1rt	A	G	11: 48,716,950 (GRCm39)	I76T	probably damaging	Het
Chd6	T	A	2: 160,871,796 (GRCm39)	Y213F	possibly damaging	Het
Coq7	A	T	7: 118,109,371 (GRCm39)	W226R	unknown	Het
Cyp2d9	G	A	15: 82,338,719 (GRCm39)		probably null	Het
Ddx42	T	A	11: 106,136,155 (GRCm39)	N635K	probably damaging	Het
Dmtf1	T	C	5: 9,179,323 (GRCm39)	T292A	possibly damaging	Het
Dnajb8	T	C	6: 88,199,857 (GRCm39)	V131A	probably benign	Het
Dock6	T	C	9: 21,727,629 (GRCm39)	E1367G	possibly damaging	Het
Dvl1	T	A	4: 155,940,000 (GRCm39)	Y377*	probably null	Het
Eif4g3	T	A	4: 137,824,629 (GRCm39)	F278Y	probably benign	Het
Fancg	A	T	4: 43,008,787 (GRCm39)	L150H	probably damaging	Het
Fastkd5	T	C	2: 130,458,114 (GRCm39)	T159A	possibly damaging	Het
Fkrp	G	T	7: 16,544,877 (GRCm39)	Y328*	probably null	Het
Fmo3	A	T	1: 162,785,874 (GRCm39)	V372D	probably damaging	Het
Gsta5	T	G	9: 78,211,721 (GRCm39)	L161R	probably damaging	Het
Gtf2h4	C	A	17: 35,981,801 (GRCm39)	G143W	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hmcn1	A	T	1: 150,649,571 (GRCm39)	Y638*	probably null	Het
Ighv11-2	T	A	12: 114,011,912 (GRCm39)	Q101L	probably damaging	Het
Lgalsl2	A	T	7: 5,362,833 (GRCm39)	I155F	probably damaging	Het
Lipf	G	T	19: 33,942,925 (GRCm39)	V78L	probably damaging	Het
Magi3	T	C	3: 103,923,081 (GRCm39)	E1212G	probably benign	Het
Mfap5	T	C	6: 122,502,948 (GRCm39)	S75P	probably damaging	Het
Mn1	C	A	5: 111,566,418 (GRCm39)	H129Q	possibly damaging	Het
Morc3	A	G	16: 93,659,427 (GRCm39)		probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Myo5c	A	G	9: 75,157,718 (GRCm39)	I224V	probably damaging	Het
Nup58	T	C	14: 60,460,808 (GRCm39)	T486A	probably benign	Het
Or5m13b	A	G	2: 85,753,951 (GRCm39)	Y113C	probably damaging	Het
Or8b46	T	A	9: 38,450,281 (GRCm39)	V30D	probably damaging	Het
Parp14	A	T	16: 35,678,573 (GRCm39)	L465Q	possibly damaging	Het
Pcare	C	T	17: 72,058,642 (GRCm39)	S345N	probably damaging	Het
Plcd3	A	T	11: 102,971,226 (GRCm39)	I110N	possibly damaging	Het
Prx	A	G	7: 27,217,668 (GRCm39)	E862G	probably benign	Het
Rbm15	A	G	3: 107,238,149 (GRCm39)	S750P	probably benign	Het
Reln	C	A	5: 22,549,367 (GRCm39)	A14S	unknown	Het
Rph3a	T	C	5: 121,092,485 (GRCm39)	Y372C	probably damaging	Het
Serpine2	T	A	1: 79,777,256 (GRCm39)	H187L	possibly damaging	Het
Slc11a2	T	C	15: 100,299,204 (GRCm39)	D122G	probably damaging	Het
Slc25a32	A	T	15: 38,959,450 (GRCm39)	V289E	probably damaging	Het
Slc25a46	A	T	18: 31,735,814 (GRCm39)	S142T	probably benign	Het
Srm	A	G	4: 148,675,961 (GRCm39)		probably null	Het
Srsf5	A	G	12: 80,995,870 (GRCm39)	D123G	probably damaging	Het
Stab1	A	T	14: 30,876,829 (GRCm39)	C832S	probably damaging	Het
Stab2	A	C	10: 86,770,704 (GRCm39)		probably benign	Het
Suds3	T	C	5: 117,233,018 (GRCm39)	N282S	probably damaging	Het
Taar9	A	T	10: 23,985,152 (GRCm39)	V94E	probably damaging	Het
Taf2	C	A	15: 54,915,643 (GRCm39)	A428S	probably benign	Het
Tbk1	G	T	10: 121,393,164 (GRCm39)	T462K	probably benign	Het
Tcaf2	T	G	6: 42,606,365 (GRCm39)	I530L	possibly damaging	Het
Tigd4	A	G	3: 84,501,221 (GRCm39)	Y46C	probably damaging	Het
Topors	G	T	4: 40,261,714 (GRCm39)	Y523*	probably null	Het
Tpte	T	C	8: 22,823,176 (GRCm39)		probably benign	Het
Trpv5	T	A	6: 41,651,284 (GRCm39)	Q254L	probably damaging	Het
Trpv6	G	A	6: 41,601,550 (GRCm39)	Q457*	probably null	Het
Ush2a	A	T	1: 187,999,304 (GRCm39)	M205L	probably benign	Het
Vmn1r90	A	T	7: 14,295,643 (GRCm39)	Y152N	probably damaging	Het
Vmn2r124	T	A	17: 18,294,280 (GRCm39)	V789D	probably damaging	Het
Vmn2r99	T	C	17: 19,598,970 (GRCm39)	I218T	probably damaging	Het
Vstm2b	T	C	7: 40,552,299 (GRCm39)	V248A	probably benign	Het
Wnk2	T	C	13: 49,224,505 (GRCm39)	K1019E	probably damaging	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp229	T	A	17: 21,964,568 (GRCm39)	F266Y	possibly damaging	Het
Zfp616	T	A	11: 73,975,094 (GRCm39)	C454*	probably null	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
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
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

Predicted Primers

Posted On

2015-02-05