Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02740:Xrcc5'

305886

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Xrcc5

Ensembl Gene

ENSMUSG00000026187

Gene Name

X-ray repair complementing defective repair in Chinese hamster cells 5

Synonyms

Ku86, Ku80

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02740

Quality Score

Status

Chromosome

Chromosomal Location

72307421-72394952 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to G at 72340081 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027379 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027379]

AlphaFold

P27641

Predicted Effect

probably null
Transcript: ENSMUST00000027379

SMART Domains

Protein: ENSMUSP00000027379
Gene: ENSMUSG00000026187

Domain	Start	End	E-Value	Type
VWA	7	245	8.07e-2	SMART
Ku78	302	441	8.9e-52	SMART
Pfam:Ku_C	476	570	6.9e-23	PFAM
Pfam:Ku_PK_bind	594	707	9.3e-31	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 the 80-kilodalton subunit of the Ku heterodimer protein which is also known as ATP-dependant DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding component of the DNA-dependent protein kinase, and it functions together with the DNA ligase IV-XRCC4 complex in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. This gene functionally complements Chinese hamster xrs-6, a mutant defective in DNA double-strand break repair and in ability to undergo V(D)J recombination. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutants are defective in DNA double-strand break repair and show impaired growth and severe combined immunodeficiency due to defective assembly of TCRs and immunoglobulins. Mutants die early with osteopenia, atrophic skin and hepatic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	C	T	1: 59,169,919	E1494K	probably benign	Het
Antxr2	A	G	5: 98,030,392		probably benign	Het
Arhgap23	A	C	11: 97,475,017	K998Q	probably damaging	Het
Bap1	A	G	14: 31,256,772	N47D	possibly damaging	Het
Carmil1	A	G	13: 24,094,518	I156T	probably damaging	Het
Ccdc141	T	C	2: 77,054,609	T563A	probably benign	Het
Cct7	T	C	6: 85,468,270	F501S	probably benign	Het
Cd59b	A	G	2: 104,078,897	I8V	probably benign	Het
Cep135	T	C	5: 76,638,268		probably null	Het
Cep170	T	G	1: 176,793,600	T4P	probably damaging	Het
Chaf1a	G	T	17: 56,067,500	G896W	probably damaging	Het
Cpt1b	A	T	15: 89,424,332	L131Q	probably damaging	Het
Dcaf13	C	T	15: 39,145,100	R366*	probably null	Het
Ddr2	A	T	1: 169,984,945	N659K	probably damaging	Het
Dmrt2	C	A	19: 25,678,473	L479I	possibly damaging	Het
Dnah10	A	G	5: 124,826,863		probably benign	Het
Dsg3	C	T	18: 20,527,708	T368M	possibly damaging	Het
Dspp	C	A	5: 104,177,238	S489*	probably null	Het
Eed	A	C	7: 89,972,256	V112G	possibly damaging	Het
Ehmt1	T	A	2: 24,815,839		probably benign	Het
Elavl3	T	C	9: 22,036,379	D89G	probably benign	Het
Ercc5	T	C	1: 44,167,492	S522P	probably benign	Het
Esrrg	T	C	1: 188,198,741	L320P	probably benign	Het
Gadl1	T	A	9: 116,006,561	Y352*	probably null	Het
Gemin5	G	A	11: 58,151,564	A477V	probably damaging	Het
Gm3086	A	T	12: 69,969,321		probably benign	Het
Gm8082	C	T	14: 42,989,113		probably benign	Het
Gpr180	T	C	14: 118,139,749	L54P	probably damaging	Het
Gpsm1	G	A	2: 26,340,573	V512M	probably benign	Het
Ighv5-4	A	G	12: 113,597,480	S107P	probably damaging	Het
Irak4	T	C	15: 94,567,044	*460Q	probably null	Het
Nfkbiz	G	T	16: 55,817,954	T381N	probably benign	Het
Olfr1167	T	A	2: 88,149,257	H254L	probably damaging	Het
Olfr384	A	T	11: 73,602,831	N84Y	probably benign	Het
Olfr910	T	C	9: 38,538,930	F12L	probably damaging	Het
Olfr937	T	C	9: 39,060,289	I126V	probably benign	Het
Pou2f1	G	A	1: 165,883,116	Q523*	probably null	Het
Ptcra	A	G	17: 46,758,547	S133P	probably damaging	Het
Ptgfrn	A	T	3: 101,072,937	D362E	possibly damaging	Het
Rbm33	A	T	5: 28,331,123	D19V	probably damaging	Het
Rnf4	T	A	5: 34,349,554	V74D	possibly damaging	Het
Rprd1b	A	G	2: 158,047,979	D7G	probably damaging	Het
Rrp1b	A	G	17: 32,059,331	T659A	probably damaging	Het
Scaf11	T	C	15: 96,419,002	N894D	probably benign	Het
Scn1a	G	A	2: 66,324,762	R618C	probably damaging	Het
Scn1a	A	T	2: 66,318,077	D1041E	probably benign	Het
Slc43a1	G	T	2: 84,859,750	A424S	probably damaging	Het
Sprtn	T	C	8: 124,898,303	L49P	probably damaging	Het
Sv2a	G	T	3: 96,185,407	R141L	possibly damaging	Het
Thsd7b	C	T	1: 129,613,127	S246F	probably damaging	Het
Tmem117	A	T	15: 94,714,982	D133V	probably benign	Het
Tnn	A	T	1: 160,140,777		probably benign	Het
Triobp	G	A	15: 78,966,689	V348I	probably benign	Het
Trps1	A	T	15: 50,846,539	D134E	probably damaging	Het
Ttn	T	C	2: 76,767,818	I19584V	probably benign	Het
Uqcrfs1	T	C	13: 30,541,023	H178R	probably damaging	Het
Ush2a	A	T	1: 188,648,388	Q2298L	possibly damaging	Het
Vmn2r67	A	G	7: 85,136,610	I729T	probably damaging	Het
Vmn2r79	A	T	7: 87,004,158	M544L	probably benign	Het
Vps41	T	A	13: 18,838,680	L404Q	probably damaging	Het
Zfp735	A	G	11: 73,710,586	K119E	possibly damaging	Het

Other mutations in Xrcc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01396:Xrcc5	APN	1	72354245	missense	probably benign	0.01
IGL01599:Xrcc5	APN	1	72346349	missense	possibly damaging	0.72
IGL01714:Xrcc5	APN	1	72329984	missense	probably damaging	0.98
IGL02884:Xrcc5	APN	1	72346237	missense	possibly damaging	0.95
barbarian	UTSW	1	72314178	missense	probably damaging	1.00
durio	UTSW	1	72339029	missense	probably damaging	1.00
Highlander	UTSW	1	72319127	missense	possibly damaging	0.55
R6935_Xrcc5_229	UTSW	1	72343030	missense	possibly damaging	0.82
xenophobe	UTSW	1	72312436	missense	probably damaging	1.00
zibethinus	UTSW	1	72310458	missense	probably damaging	1.00
PIT4362001:Xrcc5	UTSW	1	72393929	missense	probably benign
R0309:Xrcc5	UTSW	1	72307576	unclassified	probably benign
R0485:Xrcc5	UTSW	1	72338945	splice site	probably benign
R1004:Xrcc5	UTSW	1	72383778	splice site	probably benign
R1421:Xrcc5	UTSW	1	72310477	missense	probably benign	0.00
R1530:Xrcc5	UTSW	1	72329944	missense	probably damaging	0.98
R1694:Xrcc5	UTSW	1	72319096	missense	possibly damaging	0.88
R1750:Xrcc5	UTSW	1	72325087	nonsense	probably null
R2037:Xrcc5	UTSW	1	72346370	missense	probably benign	0.01
R2296:Xrcc5	UTSW	1	72346326	missense	probably benign	0.00
R4299:Xrcc5	UTSW	1	72394720	makesense	probably null
R4388:Xrcc5	UTSW	1	72330030	missense	possibly damaging	0.46
R4527:Xrcc5	UTSW	1	72312500	missense	probably damaging	1.00
R4857:Xrcc5	UTSW	1	72326265	missense	possibly damaging	0.92
R5073:Xrcc5	UTSW	1	72339029	missense	probably damaging	1.00
R5233:Xrcc5	UTSW	1	72340050	missense	probably damaging	1.00
R5521:Xrcc5	UTSW	1	72346271	missense	probably damaging	1.00
R5996:Xrcc5	UTSW	1	72310458	missense	probably damaging	1.00
R6583:Xrcc5	UTSW	1	72312593	critical splice donor site	probably null
R6638:Xrcc5	UTSW	1	72383362	missense	possibly damaging	0.94
R6935:Xrcc5	UTSW	1	72343030	missense	possibly damaging	0.82
R7046:Xrcc5	UTSW	1	72394716	missense	probably benign	0.00
R7446:Xrcc5	UTSW	1	72393973	splice site	probably null
R7473:Xrcc5	UTSW	1	72312589	missense	probably damaging	1.00
R7875:Xrcc5	UTSW	1	72329931	missense	probably damaging	1.00
R7889:Xrcc5	UTSW	1	72356826	missense	probably benign	0.45
R8088:Xrcc5	UTSW	1	72312436	missense	probably damaging	1.00
R8179:Xrcc5	UTSW	1	72356857	missense	probably damaging	0.99
R8297:Xrcc5	UTSW	1	72325085	missense	possibly damaging	0.47
R8309:Xrcc5	UTSW	1	72319127	missense	possibly damaging	0.55
R8717:Xrcc5	UTSW	1	72383746	missense	probably benign
R8775:Xrcc5	UTSW	1	72393930	missense	probably benign	0.01
R8775-TAIL:Xrcc5	UTSW	1	72393930	missense	probably benign	0.01
R8798:Xrcc5	UTSW	1	72314178	missense	probably damaging	1.00
R8889:Xrcc5	UTSW	1	72343031	missense	possibly damaging	0.90
R8892:Xrcc5	UTSW	1	72343031	missense	possibly damaging	0.90
R9527:Xrcc5	UTSW	1	72329932	missense	probably damaging	1.00

Posted On

2015-04-16