Mutagenetix > Incidental Mutations

Incidental Mutation 'R8892:Xrcc5'

677724

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8892 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72307421-72394952 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 72343031 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 455 (D455E)

Ref Sequence

ENSEMBL: ENSMUSP00000027379 (fasta)

Gene Model

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

AlphaFold

P27641

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027379
AA Change: D455E

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027379
Gene: ENSMUSG00000026187
AA Change: D455E

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.6%

Validation Efficiency

100% (76/76)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 120,216,383	L285I	probably damaging	Het
Abcc2	T	G	19: 43,807,132	S442R	possibly damaging	Het
Adgrl3	A	T	5: 81,726,669	I938F	probably damaging	Het
Adpgk	A	G	9: 59,310,340	Y212C	probably damaging	Het
Ahcyl1	C	T	3: 107,672,062	D219N	probably benign	Het
Ap3b1	G	A	13: 94,542,840	V997M	unknown	Het
Bbs1	A	C	19: 4,892,926	S479A	probably benign	Het
Bean1	A	T	8: 104,216,978	D231V	probably damaging	Het
Cacnb1	A	T	11: 98,010,366	V220E	probably damaging	Het
Camkv	C	T	9: 107,946,134	R120*	probably null	Het
Ccny	T	G	18: 9,345,235	S180R	probably damaging	Het
Cdh23	G	T	10: 60,307,505	H3012Q	probably damaging	Het
Chd9	A	G	8: 90,933,840	N476S	unknown	Het
Clasp2	T	A	9: 113,880,183	L680Q	probably damaging	Het
Clip1	A	T	5: 123,579,502	S1241R	probably benign	Het
Cramp1l	C	T	17: 24,983,140	G456D	probably damaging	Het
Csmd3	T	A	15: 47,741,238	K1036N		Het
Ctnna1	G	A	18: 35,239,533	V514I	possibly damaging	Het
Ddr1	A	C	17: 35,682,664	I852S	probably benign	Het
Dhrs1	G	A	14: 55,739,947	A238V	possibly damaging	Het
Echs1	A	C	7: 140,108,118	L258R	probably damaging	Het
Epha8	G	T	4: 136,934,539	H582N	probably benign	Het
Fhod3	G	A	18: 25,056,395		probably null	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713		probably benign	Het
Gm960	A	G	19: 4,649,693	V494A	possibly damaging	Het
Gpr179	T	C	11: 97,335,764	D1855G	possibly damaging	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ipo9	T	C	1: 135,386,806	N904S	possibly damaging	Het
Itih3	A	G	14: 30,915,678	V508A	probably benign	Het
Klhl14	T	G	18: 21,558,163	T437P	possibly damaging	Het
Krt5	T	C	15: 101,710,750	M268V	probably benign	Het
Lama4	T	A	10: 39,097,198	L1587Q	probably damaging	Het
Lhx4	T	C	1: 155,705,267	T171A	possibly damaging	Het
Lrfn2	A	C	17: 49,070,348	E152D	probably damaging	Het
Ltn1	A	T	16: 87,432,342		probably benign	Het
Ly9	A	T	1: 171,593,897	D595E	possibly damaging	Het
Macf1	A	G	4: 123,355,243	L7165P	probably damaging	Het
Magi3	C	T	3: 104,050,825	G648D	probably damaging	Het
Mgll	T	A	6: 88,766,324	C109S	unknown	Het
Micall2	T	A	5: 139,717,499	H194L	probably damaging	Het
Mindy4	T	C	6: 55,278,238	L567P	probably benign	Het
Mmp16	T	A	4: 18,051,820	Y270N	probably damaging	Het
Naa16	A	T	14: 79,390,576	F14I	probably benign	Het
Nme6	T	G	9: 109,839,638	F41V	probably damaging	Het
Npffr1	A	G	10: 61,614,160	N71S	possibly damaging	Het
Olfr1287	A	G	2: 111,449,622	I161V	probably benign	Het
Olfr362	C	A	2: 37,105,511	L46F	probably damaging	Het
Olfr409-ps1	T	C	11: 74,317,123	W33R	probably damaging	Het
Pard3b	T	A	1: 62,637,867	Y1186N	probably damaging	Het
Pou2f1	A	T	1: 165,880,458	S552T	unknown	Het
Ppp2r3c	A	T	12: 55,289,668	L233Q	possibly damaging	Het
Prl8a1	G	A	13: 27,582,086	H9Y	possibly damaging	Het
Rnf135	C	T	11: 80,184,131	T72I	probably benign	Het
Rsf1	A	T	7: 97,678,964	I1058F		Het
Slc39a6	A	T	18: 24,596,329	Y442*	probably null	Het
Slc44a2	G	A	9: 21,341,857		probably benign	Het
Slc4a11	T	G	2: 130,687,220	S437R	probably damaging	Het
Spc24	G	A	9: 21,757,698	Q98*	probably null	Het
Spock3	T	A	8: 62,951,952	Y51*	probably null	Het
Sptbn1	A	G	11: 30,117,800	Y1805H	probably benign	Het
Tango6	A	G	8: 106,742,213	I780M	probably benign	Het
Tcerg1l	C	T	7: 138,397,531	W41*	probably null	Het
Tdrd9	A	G	12: 112,013,284	Y401C	probably benign	Het
Tex47	A	T	5: 7,305,115	I99F	probably damaging	Het
Tlr9	G	A	9: 106,222,635		probably benign	Het
Tmem209	T	A	6: 30,497,943	S276C	possibly damaging	Het
Tmprss11f	A	C	5: 86,539,759	S97A	possibly damaging	Het
Ttc7	T	A	17: 87,330,092	M425K	probably damaging	Het
Ttn	C	T	2: 76,909,122	G3737D	unknown	Het
Tyk2	T	C	9: 21,116,167	H503R	probably benign	Het
Unc13b	A	T	4: 43,176,484	R2437S	unknown	Het
Uqcrc1	C	T	9: 108,937,118	R58C	probably damaging	Het
Vmn1r160	G	A	7: 22,872,049	V276I	probably benign	Het
Vmn2r112	A	G	17: 22,618,631	Y691C	probably damaging	Het
Vmn2r87	A	C	10: 130,472,236	I711S	probably damaging	Het
Vmn2r94	A	G	17: 18,244,073	S652P	possibly damaging	Het
Vps50	T	A	6: 3,536,967	C313S	probably damaging	Het
Zdhhc6	T	A	19: 55,302,555		probably benign	Het
Zfp964	G	A	8: 69,663,755	G335D	probably 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
IGL02740:Xrcc5	APN	1	72340081	critical splice donor site	probably null
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

Predicted Primers

PCR Primer
(F):5'- AGGCCAAGTACTTACACAGC -3'
(R):5'- CGTGTTTCCATACAGCAGTTGAC -3'

Sequencing Primer
(F):5'- CTTACACAGCTAGGGAATACTTTGGC -3'
(R):5'- TACAGCAGTTGACCTATGGC -3'

Posted On

2021-08-02