Mutagenetix > Incidental Mutation

Incidental Mutation 'R4299:Xrcc5'

323451

Institutional Source

Beutler Lab

Gene Symbol

Xrcc5

Ensembl Gene

ENSMUSG00000026187

Gene Name

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

Synonyms

Ku86, Ku80

MMRRC Submission

041087-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4299 (G1)

Quality Score

196

Status

Validated

Chromosome

Chromosomal Location

72346586-72434111 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 72433879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 733 (*733Q)

Ref Sequence

ENSEMBL: ENSMUSP00000027379 (fasta)

Gene Model

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

AlphaFold

P27641

Predicted Effect

probably null
Transcript: ENSMUST00000027379
AA Change: *733Q

SMART Domains

Protein: ENSMUSP00000027379
Gene: ENSMUSG00000026187
AA Change: *733Q

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

Meta Mutation Damage Score

0.8573

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (76/78)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	C	8: 87,258,154 (GRCm39)		probably null	Het
Akna	A	T	4: 63,316,269 (GRCm39)	D31E	possibly damaging	Het
Apbb2	A	T	5: 66,470,721 (GRCm39)	H528Q	probably damaging	Het
Atp6v1g3	C	A	1: 138,211,462 (GRCm39)	Y47*	probably null	Het
AW551984	T	C	9: 39,504,275 (GRCm39)	T564A	probably benign	Het
C4b	T	C	17: 34,950,118 (GRCm39)	D1384G	possibly damaging	Het
Cbfa2t2	G	A	2: 154,365,848 (GRCm39)	V353I	probably damaging	Het
Ccdc121	A	G	5: 31,644,870 (GRCm39)	R208G	possibly damaging	Het
Cdh20	T	C	1: 109,988,731 (GRCm39)	I211T	probably damaging	Het
Cep170b	T	C	12: 112,705,739 (GRCm39)	S1166P	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Crygs	G	A	16: 22,624,161 (GRCm39)	Q149*	probably null	Het
Cyp2c70	T	C	19: 40,172,372 (GRCm39)	Q90R	probably benign	Het
Cyp3a41b	T	C	5: 145,510,487 (GRCm39)	Y129C	possibly damaging	Het
Dnah10	A	G	5: 124,896,989 (GRCm39)	T3645A	probably damaging	Het
Dnai3	C	T	3: 145,774,561 (GRCm39)	D429N	probably damaging	Het
Dolk	A	T	2: 30,175,200 (GRCm39)	W282R	probably damaging	Het
Dsg2	T	A	18: 20,729,008 (GRCm39)		probably null	Het
Dysf	A	G	6: 84,045,059 (GRCm39)	T297A	possibly damaging	Het
Flt1	G	T	5: 147,620,717 (GRCm39)	D142E	probably benign	Het
Frmd4a	C	A	2: 4,337,882 (GRCm39)	N29K	probably benign	Het
Fxyd7	A	T	7: 30,744,407 (GRCm39)	M36K	probably benign	Het
Gabbr1	C	T	17: 37,366,792 (GRCm39)	R178*	probably null	Het
Gnal	C	G	18: 67,221,654 (GRCm39)	P19R	unknown	Het
Gprc5b	G	A	7: 118,583,437 (GRCm39)	A144V	possibly damaging	Het
Il1rapl1	A	T	X: 86,344,313 (GRCm39)	I194N	probably damaging	Het
Kics2	C	A	10: 121,581,351 (GRCm39)	H117Q	probably benign	Het
Klhl24	T	C	16: 19,925,754 (GRCm39)	M94T	probably damaging	Het
Kmt2e	T	A	5: 23,669,912 (GRCm39)	I133N	probably damaging	Het
Macf1	A	G	4: 123,293,199 (GRCm39)	I5381T	probably damaging	Het
Madd	A	G	2: 91,000,148 (GRCm39)	L197P	probably damaging	Het
Mapkapk3	G	A	9: 107,134,648 (GRCm39)	T296M	probably damaging	Het
Micall2	T	C	5: 139,695,226 (GRCm39)		probably benign	Het
Myh9	T	C	15: 77,654,164 (GRCm39)	T1214A	probably benign	Het
Ncapd3	A	G	9: 26,963,623 (GRCm39)	N492S	probably benign	Het
Neurl4	A	C	11: 69,799,887 (GRCm39)	D1055A	probably damaging	Het
Nrbp1	T	C	5: 31,407,943 (GRCm39)		probably null	Het
Or13a20	T	C	7: 140,232,156 (GRCm39)	V88A	probably benign	Het
Or1e21	A	T	11: 73,344,827 (GRCm39)	D70E	probably damaging	Het
Or52z1	T	A	7: 103,437,202 (GRCm39)	H94L	probably benign	Het
Or5j3	A	T	2: 86,128,585 (GRCm39)	I142F	possibly damaging	Het
Or6k8-ps1	T	A	1: 173,979,878 (GRCm39)	Y265*	probably null	Het
Or8b42	T	G	9: 38,342,108 (GRCm39)	Y177D	probably damaging	Het
Or8d1b	T	A	9: 38,887,055 (GRCm39)	F28I	probably damaging	Het
Or8g19	T	C	9: 39,056,295 (GRCm39)	S300P	probably benign	Het
Patj	C	A	4: 98,565,558 (GRCm39)	N1090K	possibly damaging	Het
Pde8a	A	G	7: 80,977,783 (GRCm39)	D692G	probably benign	Het
Ppa2	G	T	3: 133,073,603 (GRCm39)	K220N	probably damaging	Het
Pramel32	T	C	4: 88,546,419 (GRCm39)	K137E	probably damaging	Het
Ptgr3	A	T	18: 84,112,626 (GRCm39)	I101F	possibly damaging	Het
Rad54b	A	G	4: 11,597,865 (GRCm39)	H250R	probably damaging	Het
Reln	A	C	5: 22,125,485 (GRCm39)	C2733G	probably damaging	Het
Rgs14	A	G	13: 55,531,566 (GRCm39)	T497A	probably damaging	Het
Rpl13-ps3	T	A	14: 59,130,972 (GRCm39)		noncoding transcript	Het
Scn11a	T	G	9: 119,594,572 (GRCm39)	I1274L	probably damaging	Het
Sco1	A	T	11: 66,946,626 (GRCm39)	H133L	possibly damaging	Het
Slc4a8	T	C	15: 100,694,521 (GRCm39)		probably null	Het
Smc2	C	T	4: 52,440,238 (GRCm39)		probably benign	Het
Spata18	T	C	5: 73,824,245 (GRCm39)	I156T	probably benign	Het
St3gal2	T	C	8: 111,688,991 (GRCm39)	M177T	probably benign	Het
Stt3a	A	G	9: 36,674,640 (GRCm39)	F48L	probably damaging	Het
Syvn1	C	T	19: 6,099,951 (GRCm39)		probably benign	Het
Szt2	A	G	4: 118,222,603 (GRCm39)		probably benign	Het
Telo2	A	T	17: 25,334,230 (GRCm39)	S6T	possibly damaging	Het
Tnfrsf11b	T	C	15: 54,115,491 (GRCm39)	M369V	probably benign	Het
Tnfrsf13b	C	G	11: 61,031,643 (GRCm39)		probably null	Het
Vmn1r234	A	T	17: 21,449,283 (GRCm39)	M66L	probably benign	Het
Vmn2r12	C	A	5: 109,239,830 (GRCm39)	M244I	probably benign	Het
Wdfy2	T	A	14: 63,162,589 (GRCm39)	L97*	probably null	Het
Zfp1004	G	A	2: 150,032,653 (GRCm39)	D17N	probably damaging	Het
Zfp516	G	A	18: 83,005,622 (GRCm39)	G842D	possibly damaging	Het
Zwilch	A	G	9: 64,062,444 (GRCm39)		probably null	Het

Other mutations in Xrcc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01396:Xrcc5	APN	1	72,393,404 (GRCm39)	missense	probably benign	0.01
IGL01599:Xrcc5	APN	1	72,385,508 (GRCm39)	missense	possibly damaging	0.72
IGL01714:Xrcc5	APN	1	72,369,143 (GRCm39)	missense	probably damaging	0.98
IGL02740:Xrcc5	APN	1	72,379,240 (GRCm39)	critical splice donor site	probably null
IGL02884:Xrcc5	APN	1	72,385,396 (GRCm39)	missense	possibly damaging	0.95
barbarian	UTSW	1	72,353,337 (GRCm39)	missense	probably damaging	1.00
durio	UTSW	1	72,378,188 (GRCm39)	missense	probably damaging	1.00
Highlander	UTSW	1	72,358,286 (GRCm39)	missense	possibly damaging	0.55
monoculture	UTSW	1	72,382,189 (GRCm39)	missense	possibly damaging	0.82
xenophobe	UTSW	1	72,351,595 (GRCm39)	missense	probably damaging	1.00
zibethinus	UTSW	1	72,349,617 (GRCm39)	missense	probably damaging	1.00
PIT4362001:Xrcc5	UTSW	1	72,433,088 (GRCm39)	missense	probably benign
R0309:Xrcc5	UTSW	1	72,346,735 (GRCm39)	unclassified	probably benign
R0485:Xrcc5	UTSW	1	72,378,104 (GRCm39)	splice site	probably benign
R1004:Xrcc5	UTSW	1	72,422,937 (GRCm39)	splice site	probably benign
R1421:Xrcc5	UTSW	1	72,349,636 (GRCm39)	missense	probably benign	0.00
R1530:Xrcc5	UTSW	1	72,369,103 (GRCm39)	missense	probably damaging	0.98
R1694:Xrcc5	UTSW	1	72,358,255 (GRCm39)	missense	possibly damaging	0.88
R1750:Xrcc5	UTSW	1	72,364,246 (GRCm39)	nonsense	probably null
R2037:Xrcc5	UTSW	1	72,385,529 (GRCm39)	missense	probably benign	0.01
R2296:Xrcc5	UTSW	1	72,385,485 (GRCm39)	missense	probably benign	0.00
R4388:Xrcc5	UTSW	1	72,369,189 (GRCm39)	missense	possibly damaging	0.46
R4527:Xrcc5	UTSW	1	72,351,659 (GRCm39)	missense	probably damaging	1.00
R4857:Xrcc5	UTSW	1	72,365,424 (GRCm39)	missense	possibly damaging	0.92
R5073:Xrcc5	UTSW	1	72,378,188 (GRCm39)	missense	probably damaging	1.00
R5233:Xrcc5	UTSW	1	72,379,209 (GRCm39)	missense	probably damaging	1.00
R5521:Xrcc5	UTSW	1	72,385,430 (GRCm39)	missense	probably damaging	1.00
R5996:Xrcc5	UTSW	1	72,349,617 (GRCm39)	missense	probably damaging	1.00
R6583:Xrcc5	UTSW	1	72,351,752 (GRCm39)	critical splice donor site	probably null
R6638:Xrcc5	UTSW	1	72,422,521 (GRCm39)	missense	possibly damaging	0.94
R6935:Xrcc5	UTSW	1	72,382,189 (GRCm39)	missense	possibly damaging	0.82
R7046:Xrcc5	UTSW	1	72,433,875 (GRCm39)	missense	probably benign	0.00
R7446:Xrcc5	UTSW	1	72,433,132 (GRCm39)	splice site	probably null
R7473:Xrcc5	UTSW	1	72,351,748 (GRCm39)	missense	probably damaging	1.00
R7875:Xrcc5	UTSW	1	72,369,090 (GRCm39)	missense	probably damaging	1.00
R7889:Xrcc5	UTSW	1	72,395,985 (GRCm39)	missense	probably benign	0.45
R8088:Xrcc5	UTSW	1	72,351,595 (GRCm39)	missense	probably damaging	1.00
R8179:Xrcc5	UTSW	1	72,396,016 (GRCm39)	missense	probably damaging	0.99
R8297:Xrcc5	UTSW	1	72,364,244 (GRCm39)	missense	possibly damaging	0.47
R8309:Xrcc5	UTSW	1	72,358,286 (GRCm39)	missense	possibly damaging	0.55
R8717:Xrcc5	UTSW	1	72,422,905 (GRCm39)	missense	probably benign
R8775:Xrcc5	UTSW	1	72,433,089 (GRCm39)	missense	probably benign	0.01
R8775-TAIL:Xrcc5	UTSW	1	72,433,089 (GRCm39)	missense	probably benign	0.01
R8798:Xrcc5	UTSW	1	72,353,337 (GRCm39)	missense	probably damaging	1.00
R8889:Xrcc5	UTSW	1	72,382,190 (GRCm39)	missense	possibly damaging	0.90
R8892:Xrcc5	UTSW	1	72,382,190 (GRCm39)	missense	possibly damaging	0.90
R9527:Xrcc5	UTSW	1	72,369,091 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACACACTATGCTGTCAGCC -3'
(R):5'- CATCACAGCAGGGTAGGATG -3'

Sequencing Primer
(F):5'- ACACTATGCTGTCAGCCTTTTTGTG -3'
(R):5'- AGCAGGGTAGGATGAAGTCTATTTTC -3'

Posted On

2015-06-20