Mutagenetix > Incidental Mutation

Incidental Mutation 'R2037:Xrcc5'

224711

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

040044-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2037 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72346586-72434111 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 72385529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 540 (T540K)

Ref Sequence

ENSEMBL: ENSMUSP00000027379 (fasta)

Gene Model

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

AlphaFold

P27641

Predicted Effect

probably benign
Transcript: ENSMUST00000027379
AA Change: T540K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000027379
Gene: ENSMUSG00000026187
AA Change: T540K

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

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.0%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,980,810 (GRCm39)		probably null	Het
AI987944	T	C	7: 41,023,815 (GRCm39)	Y391C	probably benign	Het
Ankfn1	A	T	11: 89,346,946 (GRCm39)	S296T	probably benign	Het
Apob	A	G	12: 8,057,488 (GRCm39)	D1957G	probably benign	Het
Baz1a	G	T	12: 54,976,431 (GRCm39)	P415Q	probably damaging	Het
Brca2	T	A	5: 150,464,134 (GRCm39)	H1299Q	probably benign	Het
C7	G	T	15: 5,063,720 (GRCm39)	S227*	probably null	Het
Catsperb	A	T	12: 101,474,221 (GRCm39)	R306S	probably damaging	Het
Cbx3	T	A	6: 51,448,793 (GRCm39)		probably null	Het
Ccnt2	A	G	1: 127,731,136 (GRCm39)	Y671C	probably damaging	Het
Crocc	A	G	4: 140,774,253 (GRCm39)		probably null	Het
Ctr9	G	A	7: 110,646,014 (GRCm39)	V669I	probably benign	Het
Dck	T	G	5: 88,920,576 (GRCm39)	Y99D	probably damaging	Het
Ddx52	T	A	11: 83,835,432 (GRCm39)	D119E	probably benign	Het
Dnah10	A	T	5: 124,823,768 (GRCm39)	K596N	probably benign	Het
Dnah7a	A	T	1: 53,621,741 (GRCm39)	V1128E	probably benign	Het
Dph1	A	T	11: 75,076,679 (GRCm39)		probably null	Het
Enah	G	A	1: 181,749,537 (GRCm39)	P415L	probably damaging	Het
Enthd1	A	G	15: 80,444,550 (GRCm39)	S2P	possibly damaging	Het
Erc1	A	C	6: 119,699,216 (GRCm39)	V802G	possibly damaging	Het
F8	ATCTCTCTC	ATCTCTC	X: 74,366,604 (GRCm39)		probably null	Het
Fam169a	C	A	13: 97,243,600 (GRCm39)	A210E	probably benign	Het
Fcmr	A	G	1: 130,806,070 (GRCm39)	D342G	possibly damaging	Het
Fgfr4	T	G	13: 55,315,702 (GRCm39)	V743G	possibly damaging	Het
Fsip2	A	G	2: 82,808,856 (GRCm39)	D1725G	probably damaging	Het
Heatr5b	A	T	17: 79,136,934 (GRCm39)	C195*	probably null	Het
Herc2	G	A	7: 55,855,709 (GRCm39)	A3882T	probably damaging	Het
Il20	T	A	1: 130,836,115 (GRCm39)	N143Y	probably damaging	Het
Inpp5b	A	G	4: 124,692,092 (GRCm39)	S892G	probably damaging	Het
Ipo13	A	T	4: 117,761,858 (GRCm39)	Y447*	probably null	Het
Itprid1	A	G	6: 55,874,860 (GRCm39)	N270S	probably benign	Het
Kbtbd12	A	T	6: 88,594,779 (GRCm39)	N350K	probably benign	Het
Kiz	T	C	2: 146,811,880 (GRCm39)	F663S	probably damaging	Het
Matn2	A	G	15: 34,433,263 (GRCm39)	D870G	probably benign	Het
Methig1	C	T	15: 100,251,467 (GRCm39)	A126V	probably benign	Het
Mme	A	G	3: 63,235,681 (GRCm39)	D209G	probably null	Het
Mroh4	A	G	15: 74,481,610 (GRCm39)	F811L	possibly damaging	Het
Myo9b	G	T	8: 71,743,510 (GRCm39)	K190N	probably damaging	Het
Ncf1	T	C	5: 134,258,406 (GRCm39)	I6V	probably damaging	Het
Nmt2	T	C	2: 3,310,618 (GRCm39)	F121L	probably damaging	Het
Nol10	A	G	12: 17,411,152 (GRCm39)	D183G	probably benign	Het
Nsun7	T	C	5: 66,418,429 (GRCm39)	V53A	probably benign	Het
Or10u4	T	C	10: 129,802,009 (GRCm39)	I187V	probably benign	Het
Or8j3	T	C	2: 86,028,176 (GRCm39)	S307G	probably benign	Het
Or8k22	T	C	2: 86,162,774 (GRCm39)	N309D	probably benign	Het
Pappa2	A	T	1: 158,784,214 (GRCm39)	Y265*	probably null	Het
Pigg	G	A	5: 108,486,518 (GRCm39)	A724T	probably damaging	Het
Pik3r4	C	T	9: 105,527,534 (GRCm39)	R296C	probably benign	Het
Pkhd1l1	A	G	15: 44,431,617 (GRCm39)		probably null	Het
Pld4	A	G	12: 112,734,992 (GRCm39)	D483G	probably damaging	Het
Ppip5k1	C	T	2: 121,173,674 (GRCm39)	R399H	probably damaging	Het
Qrfpr	A	T	3: 36,236,806 (GRCm39)	H198Q	probably damaging	Het
Rasgrf2	A	T	13: 92,050,748 (GRCm39)	D883E	probably damaging	Het
Retnlg	T	C	16: 48,694,615 (GRCm39)	C88R	probably damaging	Het
Sin3a	C	T	9: 57,004,109 (GRCm39)	T287I	probably benign	Het
Slc44a1	GCC	GCCCCC	4: 53,563,243 (GRCm39)		probably benign	Het
Sppl2c	G	C	11: 104,077,307 (GRCm39)	V36L	probably benign	Het
Srp72	T	A	5: 77,124,338 (GRCm39)	I68N	probably damaging	Het
Srrm3	T	A	5: 135,883,231 (GRCm39)	S195R	probably damaging	Het
Srrm4	T	A	5: 116,605,887 (GRCm39)		probably benign	Het
Ssb	A	G	2: 69,699,163 (GRCm39)	S199G	probably benign	Het
Sult2a6	T	A	7: 13,988,634 (GRCm39)	Y42F	probably damaging	Het
Syne2	A	G	12: 76,072,343 (GRCm39)	T120A	probably benign	Het
Tas1r1	A	G	4: 152,112,627 (GRCm39)	F809L	probably damaging	Het
Tead3	A	G	17: 28,555,544 (GRCm39)	S117P	probably damaging	Het
Tefm	C	T	11: 80,031,056 (GRCm39)	R60H	probably damaging	Het
Tmem104	G	A	11: 115,092,221 (GRCm39)	R110H	possibly damaging	Het
Tnxb	G	A	17: 34,918,179 (GRCm39)	G2364D	probably damaging	Het
Vmn1r211	T	A	13: 23,036,134 (GRCm39)	I178F	probably damaging	Het
Vmn1r6	A	T	6: 56,980,109 (GRCm39)	Y235F	probably damaging	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
R2296:Xrcc5	UTSW	1	72,385,485 (GRCm39)	missense	probably benign	0.00
R4299:Xrcc5	UTSW	1	72,433,879 (GRCm39)	makesense	probably null
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'- CTTCCAGTTAGAGATGGAGGC -3'
(R):5'- ATTGCCCTCTGTAACCCTGG -3'

Sequencing Primer
(F):5'- ATATTTGATGTCAGCCTCAGCG -3'
(R):5'- TCTGTAACCCTGGGCAGCAC -3'

Posted On

2014-08-25