Mutagenetix > Incidental Mutation

Incidental Mutation 'R8798:Xrcc5'

671339

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

068724-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8798 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72346586-72434111 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72353337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 115 (M115T)

Ref Sequence

ENSEMBL: ENSMUSP00000027379 (fasta)

Gene Model

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

AlphaFold

P27641

Predicted Effect

probably damaging
Transcript: ENSMUST00000027379
AA Change: M115T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027379
Gene: ENSMUSG00000026187
AA Change: M115T

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

0.7172

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (74/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	G	A	8: 79,937,380 (GRCm39)	R176*	probably null	Het
4921539E11Rik	A	C	4: 103,123,574 (GRCm39)		probably benign	Het
Abcc2	A	G	19: 43,797,105 (GRCm39)	N492S	probably benign	Het
Acox1	T	C	11: 116,065,183 (GRCm39)	Y624C	probably damaging	Het
Aff4	T	C	11: 53,291,335 (GRCm39)		probably benign	Het
Ak9	T	A	10: 41,258,847 (GRCm39)	D781E		Het
Arfgef3	T	C	10: 18,522,799 (GRCm39)	D409G	probably damaging	Het
Arhgef18	T	A	8: 3,414,645 (GRCm39)	Y8N	probably benign	Het
Blnk	A	G	19: 40,950,795 (GRCm39)	Y119H	probably damaging	Het
Brsk2	T	C	7: 141,541,601 (GRCm39)	L310P	probably damaging	Het
Cgas	G	A	9: 78,350,348 (GRCm39)	R5C	probably benign	Het
Cit	T	A	5: 116,107,102 (GRCm39)	L1078Q	probably damaging	Het
Cpn1	A	T	19: 43,974,675 (GRCm39)	V18D	possibly damaging	Het
Csmd3	A	T	15: 47,595,382 (GRCm39)	Y1115N		Het
Dnah9	A	C	11: 65,796,057 (GRCm39)	V3589G	probably damaging	Het
Dpp9	T	C	17: 56,506,037 (GRCm39)	Y454C	probably damaging	Het
Eif3i	A	G	4: 129,490,717 (GRCm39)	V67A	probably benign	Het
Eif6	T	C	2: 155,664,886 (GRCm39)	N200S	probably damaging	Het
Fbxo10	T	C	4: 45,051,605 (GRCm39)	H502R	possibly damaging	Het
Fcer1a	A	G	1: 173,053,047 (GRCm39)	Y50H	probably benign	Het
Filip1	G	A	9: 79,727,372 (GRCm39)	H416Y	possibly damaging	Het
Frmpd1	A	T	4: 45,285,424 (GRCm39)	N1415I	possibly damaging	Het
Gdpgp1	C	T	7: 79,888,725 (GRCm39)	P252L	probably damaging	Het
Gsap	T	C	5: 21,476,248 (GRCm39)		probably null	Het
Hgs	T	C	11: 120,370,938 (GRCm39)	V598A	probably benign	Het
Irf2	G	T	8: 47,260,349 (GRCm39)	V94L	probably benign	Het
Kalrn	G	T	16: 33,803,225 (GRCm39)	H2675Q	possibly damaging	Het
Klhl33	C	A	14: 51,130,565 (GRCm39)	A50S	possibly damaging	Het
Klk1b11	T	C	7: 43,645,372 (GRCm39)	I15T	probably benign	Het
Lcor	C	T	19: 41,573,698 (GRCm39)	R818W	probably damaging	Het
Lrrn3	A	G	12: 41,503,174 (GRCm39)	M381T	possibly damaging	Het
Ltbr	A	G	6: 125,284,258 (GRCm39)	Y395H	probably benign	Het
Ltf	A	G	9: 110,852,828 (GRCm39)		probably benign	Het
Ly75	A	G	2: 60,154,270 (GRCm39)	F1059S	probably benign	Het
Lypd6	T	A	2: 50,078,774 (GRCm39)	I90N	possibly damaging	Het
Map1a	G	A	2: 121,132,768 (GRCm39)	V1195M	probably benign	Het
Mroh2b	A	T	15: 4,978,191 (GRCm39)	I1320F	probably damaging	Het
Mug2	A	G	6: 122,058,569 (GRCm39)	T1324A	probably damaging	Het
Mylk	G	A	16: 34,719,772 (GRCm39)	V562M	possibly damaging	Het
Myo15b	G	A	11: 115,754,232 (GRCm39)	G911R		Het
Neo1	A	G	9: 58,820,449 (GRCm39)	Y825H	probably damaging	Het
Nfat5	T	G	8: 108,074,321 (GRCm39)	V343G	probably damaging	Het
Nlrp2	A	T	7: 5,330,887 (GRCm39)	I503K	possibly damaging	Het
Or10d5	G	A	9: 39,862,013 (GRCm39)	T18I	probably benign	Het
Or13d1	C	A	4: 52,970,790 (GRCm39)	H56Q	possibly damaging	Het
Or5k16	A	T	16: 58,736,307 (GRCm39)	D232E	probably benign	Het
Or8d2	G	A	9: 38,760,213 (GRCm39)	E268K	probably benign	Het
Pdcl2	T	C	5: 76,472,947 (GRCm39)	D7G	probably damaging	Het
Phyh	C	T	2: 4,923,893 (GRCm39)	R5C	probably damaging	Het
Prr11	A	C	11: 86,996,881 (GRCm39)	S28A	unknown	Het
Psmd13	T	A	7: 140,477,663 (GRCm39)	L190*	probably null	Het
Ptx4	A	G	17: 25,343,716 (GRCm39)	D322G	probably damaging	Het
Rnf40	T	C	7: 127,188,954 (GRCm39)	L109P	probably damaging	Het
Rrp1	T	C	10: 78,245,024 (GRCm39)	T102A	probably damaging	Het
Sema4a	T	G	3: 88,344,004 (GRCm39)	D749A	possibly damaging	Het
Serpina3f	A	T	12: 104,183,702 (GRCm39)	D188V	probably benign	Het
Smarca5	C	A	8: 81,443,137 (GRCm39)	A570S	probably damaging	Het
Spocd1	G	C	4: 129,823,997 (GRCm39)		probably null	Het
Stard9	G	A	2: 120,535,212 (GRCm39)	G3823D	probably benign	Het
Suco	A	G	1: 161,648,004 (GRCm39)	L1094S	probably damaging	Het
Tcf7	T	C	11: 52,151,421 (GRCm39)	D79G	probably damaging	Het
Tdrd12	A	G	7: 35,228,605 (GRCm39)	M39T	probably damaging	Het
Thnsl1	A	G	2: 21,217,209 (GRCm39)	N321S	probably benign	Het
Tmem132c	T	A	5: 127,437,217 (GRCm39)	Y235*	probably null	Het
Tnfaip6	T	C	2: 51,933,824 (GRCm39)	F60L	probably benign	Het
Tnpo3	T	C	6: 29,572,620 (GRCm39)	I411V	probably benign	Het
Trio	A	C	15: 27,851,923 (GRCm39)	V856G	possibly damaging	Het
Trpc2	C	G	7: 101,733,767 (GRCm39)	R239G	probably benign	Het
Ttn	C	T	2: 76,656,476 (GRCm39)	V12502I	unknown	Het
Usf3	A	G	16: 44,040,536 (GRCm39)	D1672G	probably damaging	Het
Usp24	A	G	4: 106,236,436 (GRCm39)	N1011S	probably benign	Het
Vac14	A	G	8: 111,446,519 (GRCm39)	E756G	probably benign	Het
Vmn2r41	A	G	7: 8,164,522 (GRCm39)	L10P	probably damaging	Het
Zfp1006	G	A	8: 129,945,779 (GRCm39)	H349Y	probably damaging	Het
Zfp827	G	A	8: 79,916,463 (GRCm39)		probably benign	Het
Zmym1	A	T	4: 126,943,664 (GRCm39)	N241K	possibly 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
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
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
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'- TAGAGTCTGGGACACATGGG -3'
(R):5'- GTACAGCACACCAACTACTTATGG -3'

Sequencing Primer
(F):5'- GGCAAGCCCTTTTAAGTTGTCCAG -3'
(R):5'- ACTACTTATGGATCATACCACTTGG -3'

Posted On

2021-04-30