Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03372:Rad50'

420319

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03372

Quality Score

Status

Chromosome

Chromosomal Location

53649519-53707319 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53695294 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 292 (K292E)

Ref Sequence

ENSEMBL: ENSMUSP00000020649 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000020649
AA Change: K292E

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020649
Gene: ENSMUSG00000020380
AA Change: K292E

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
AA Change: K292E

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000119618
Gene: ENSMUSG00000020380
AA Change: K292E

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
AA Change: K292E

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000120869
Gene: ENSMUSG00000020380
AA Change: K292E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152598

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	C	T	4: 130,017,569	A1161V	probably benign	Het
Alpi	A	G	1: 87,100,628		probably benign	Het
Asxl1	A	T	2: 153,400,413	N961I	probably damaging	Het
Bcl2l10	A	G	9: 75,348,047	I49V	probably benign	Het
Bod1l	T	C	5: 41,805,235		probably benign	Het
Ccl20	A	G	1: 83,117,876	M54V	probably benign	Het
Cep72	A	C	13: 74,043,518	L200V	possibly damaging	Het
Clic4	T	C	4: 135,218,614	D164G	probably damaging	Het
Col5a3	G	A	9: 20,775,328	P1334S	unknown	Het
Dab2	T	C	15: 6,429,549	L293P	probably damaging	Het
Ddx50	A	T	10: 62,643,330	S140T	probably benign	Het
Dnah6	A	T	6: 73,075,850	M2897K	probably benign	Het
Dnmt3a	A	G	12: 3,902,666	E721G	probably damaging	Het
Esyt3	A	T	9: 99,336,056		probably benign	Het
Fat4	G	T	3: 38,889,134	K725N	possibly damaging	Het
Fezf1	T	C	6: 23,246,910	I308V	probably damaging	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gapdhs	T	C	7: 30,733,249		probably benign	Het
Gm10109	A	T	7: 44,221,702		probably benign	Het
Gpd2	G	A	2: 57,355,507	V405I	probably damaging	Het
Gtf2e1	T	C	16: 37,535,715		probably benign	Het
Iqca	A	G	1: 90,144,969	I63T	possibly damaging	Het
Kcmf1	A	C	6: 72,849,563	L161R	probably damaging	Het
Kif19a	G	T	11: 114,779,218	V80L	probably damaging	Het
Kif21a	A	T	15: 90,956,376	M1179K	probably benign	Het
Krtap19-2	A	G	16: 88,873,886		probably benign	Het
Ksr2	T	A	5: 117,702,718	I575N	possibly damaging	Het
L3mbtl1	A	T	2: 162,971,157		probably benign	Het
Larp1b	A	T	3: 41,024,527	H6L	possibly damaging	Het
Map4k2	T	A	19: 6,342,249		probably benign	Het
Mdh1b	T	C	1: 63,719,995	H146R	possibly damaging	Het
Morc2a	T	C	11: 3,681,813		probably benign	Het
Mvd	A	G	8: 122,443,374		probably benign	Het
Myo7b	C	T	18: 31,998,601	S514N	probably damaging	Het
Nav1	A	T	1: 135,450,903	I1610K	probably damaging	Het
Nbas	T	C	12: 13,534,472	L2095P	probably damaging	Het
Nrros	T	C	16: 32,144,770	N115S	probably damaging	Het
Olfr472	T	C	7: 107,903,370	Y218H	probably damaging	Het
Otud6b	A	C	4: 14,812,519	I276R	possibly damaging	Het
P2rx6	G	A	16: 17,567,492	E150K	probably damaging	Het
Pan2	T	A	10: 128,315,127	L771Q	probably benign	Het
Pbrm1	T	A	14: 31,085,019	N1087K	probably benign	Het
Pcdhb5	G	T	18: 37,320,660	R31L	probably benign	Het
Proser3	A	C	7: 30,543,568	S195A	probably damaging	Het
Rbm27	G	A	18: 42,305,716	R394H	probably damaging	Het
Samd9l	A	G	6: 3,375,314	I649T	probably damaging	Het
Skint3	G	A	4: 112,255,906		probably benign	Het
Slc4a4	T	A	5: 89,156,426	L576Q	probably damaging	Het
Snx2	A	G	18: 53,216,391	D408G	probably damaging	Het
Taar2	T	C	10: 23,941,171	V203A	probably benign	Het
Tdrd6	C	T	17: 43,625,568	V1530M	probably damaging	Het
Tsc2	A	C	17: 24,619,470	L515R	probably damaging	Het
Unc13a	A	T	8: 71,655,709	M500K	probably damaging	Het
Vmn1r75	A	G	7: 11,880,569	D76G	probably benign	Het
Whrn	T	C	4: 63,418,618	D127G	probably damaging	Het

Other mutations in Rad50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00477:Rad50	APN	11	53686311	intron	probably benign
IGL00709:Rad50	APN	11	53669642	missense	possibly damaging	0.49
IGL01080:Rad50	APN	11	53706068	missense	probably damaging	1.00
IGL01357:Rad50	APN	11	53707021	missense	probably damaging	1.00
IGL01979:Rad50	APN	11	53686178	nonsense	probably null
IGL02481:Rad50	APN	11	53680049	missense	probably benign	0.20
IGL02483:Rad50	APN	11	53680049	missense	probably benign	0.20
IGL02673:Rad50	APN	11	53688240	missense	probably benign	0.19
IGL02754:Rad50	APN	11	53702056	missense	probably damaging	1.00
PIT4131001:Rad50	UTSW	11	53694899	critical splice donor site	probably null
R0035:Rad50	UTSW	11	53655027	splice site	probably benign
R0035:Rad50	UTSW	11	53655027	splice site	probably benign
R0270:Rad50	UTSW	11	53668025	missense	probably damaging	1.00
R0373:Rad50	UTSW	11	53650519	missense	probably damaging	1.00
R0567:Rad50	UTSW	11	53654956	missense	probably damaging	1.00
R1132:Rad50	UTSW	11	53694961	missense	possibly damaging	0.58
R1249:Rad50	UTSW	11	53692137	missense	probably damaging	0.99
R1368:Rad50	UTSW	11	53683245	nonsense	probably null
R1501:Rad50	UTSW	11	53688151	missense	possibly damaging	0.68
R1506:Rad50	UTSW	11	53679485	missense	probably damaging	0.98
R1633:Rad50	UTSW	11	53692859	missense	probably benign	0.00
R1663:Rad50	UTSW	11	53668223	missense	probably benign	0.01
R1847:Rad50	UTSW	11	53702107	missense	possibly damaging	0.68
R1933:Rad50	UTSW	11	53680061	missense	probably benign	0.16
R2176:Rad50	UTSW	11	53698209	missense	probably benign	0.00
R2519:Rad50	UTSW	11	53707185	start gained	probably benign
R3027:Rad50	UTSW	11	53695381	missense	probably benign	0.00
R3894:Rad50	UTSW	11	53678870	missense	probably benign	0.01
R4181:Rad50	UTSW	11	53702005	missense	probably benign	0.00
R4302:Rad50	UTSW	11	53702005	missense	probably benign	0.00
R4836:Rad50	UTSW	11	53650653	missense	probably damaging	1.00
R4934:Rad50	UTSW	11	53684275	missense	probably benign	0.05
R5047:Rad50	UTSW	11	53674696	critical splice donor site	probably null
R5201:Rad50	UTSW	11	53698820	critical splice donor site	probably null
R5325:Rad50	UTSW	11	53692863	missense	probably benign	0.16
R5368:Rad50	UTSW	11	53684246	missense	probably benign	0.02
R5403:Rad50	UTSW	11	53695281	critical splice donor site	probably null
R5421:Rad50	UTSW	11	53674946	missense	probably benign	0.02
R6282:Rad50	UTSW	11	53669770	splice site	probably null
R6468:Rad50	UTSW	11	53692144	missense	possibly damaging	0.81
R6469:Rad50	UTSW	11	53684235	missense	probably benign	0.08
R6528:Rad50	UTSW	11	53652282	missense	probably damaging	1.00
R6704:Rad50	UTSW	11	53698918	missense	probably damaging	1.00
R6886:Rad50	UTSW	11	53686184	missense	probably benign	0.01
R7055:Rad50	UTSW	11	53688102	missense	probably benign	0.02
R7268:Rad50	UTSW	11	53684275	missense	probably benign	0.01
R7288:Rad50	UTSW	11	53654949	nonsense	probably null
R7375:Rad50	UTSW	11	53652228	splice site	probably null
R7380:Rad50	UTSW	11	53695396	missense	probably benign	0.00
R7467:Rad50	UTSW	11	53654908	missense	probably damaging	1.00
R7533:Rad50	UTSW	11	53698919	missense	probably damaging	1.00

Posted On

2016-08-02