Mutagenetix > Incidental Mutations

Incidental Mutation 'R6970:Xrcc6'

542215

Institutional Source

Beutler Lab

Gene Symbol

Xrcc6

Ensembl Gene

ENSMUSG00000022471

Gene Name

X-ray repair complementing defective repair in Chinese hamster cells 6

Synonyms

Ku p70, G22p1, Ku70

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6970 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81987835-82040085 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82031174 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 98 (K98E)

Ref Sequence

ENSEMBL: ENSMUSP00000155606 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069530] [ENSMUST00000100399] [ENSMUST00000230729]

Predicted Effect

probably benign
Transcript: ENSMUST00000069530
AA Change: K443E

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000068559
Gene: ENSMUSG00000022471
AA Change: K443E

Domain	Start	End	E-Value	Type
low complexity region	11	20	N/A	INTRINSIC
VWA	32	246	1.79e0	SMART
Ku78	306	452	2.91e-56	SMART
Pfam:Ku_C	467	557	5e-34	PFAM
SAP	571	605	2.38e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000100399
AA Change: K443E

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000097968
Gene: ENSMUSG00000022471
AA Change: K443E

Domain	Start	End	E-Value	Type
low complexity region	11	20	N/A	INTRINSIC
VWA	32	246	1.79e0	SMART
Ku78	306	452	2.91e-56	SMART
Pfam:Ku_C	470	555	3.1e-31	PFAM
SAP	571	605	2.38e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000230729
AA Change: K98E

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The p70/p80 autoantigen is a nuclear complex consisting of two subunits with molecular masses of approximately 70 and 80 kDa. The complex functions as a single-stranded DNA-dependent ATP-dependent helicase. The complex may be involved in the repair of nonhomologous DNA ends such as that required for double-strand break repair, transposition, and V(D)J recombination. High levels of autoantibodies to p70 and p80 have been found in some patients with systemic lupus erythematosus. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neuron apoptosis, decreased body size, abnormal B and T cell morphology, increased incidence of tumorigenesis, and increased cellular sensitivity to irradiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	A	G	19: 11,112,314		probably null	Het
2410089E03Rik	T	C	15: 8,187,548	V750A	probably benign	Het
Acadsb	T	C	7: 131,434,315	Y285H	possibly damaging	Het
Adam17	A	G	12: 21,345,668	S285P	probably benign	Het
Adcy10	A	G	1: 165,556,916	N1082S	probably benign	Het
Ahdc1	T	A	4: 133,062,345	L299Q	possibly damaging	Het
Ambra1	T	A	2: 91,772,600		probably benign	Het
Arfgef1	T	C	1: 10,153,678	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,153,679	Q1465K	probably damaging	Het
Atp8a1	A	G	5: 67,738,462	V543A	probably damaging	Het
BC034090	T	A	1: 155,241,439	D311V	probably damaging	Het
Blnk	G	T	19: 40,962,377	P110Q	probably damaging	Het
Cc2d2a	A	G	5: 43,718,585	E968G	probably damaging	Het
Ccdc14	A	T	16: 34,709,533	E394V	probably damaging	Het
Ccdc162	A	T	10: 41,615,958	H1086Q	probably benign	Het
Ccdc85b	T	A	19: 5,457,220	I60F	probably damaging	Het
Ceacam20	T	A	7: 19,989,977	L562Q	probably damaging	Het
Cntrl	T	C	2: 35,118,137	F188L	probably benign	Het
Dclk1	A	T	3: 55,466,601		probably benign	Het
Ddx20	A	T	3: 105,680,358	L434H	probably damaging	Het
Ddx51	G	A	5: 110,656,862	V547M	probably damaging	Het
Dnah11	T	A	12: 118,108,944	Q1472L	probably benign	Het
Dnajb13	T	C	7: 100,507,422	E149G	probably damaging	Het
Fat4	A	G	3: 38,981,775	N3192S	probably damaging	Het
Fat4	A	T	3: 38,995,971	D3994V	probably damaging	Het
Fcgr1	C	A	3: 96,284,620		probably null	Het
Gm11639	A	G	11: 104,776,356	E1422G	probably benign	Het
Gm12185	G	A	11: 48,907,912	R585*	probably null	Het
Gm32687	A	G	10: 81,879,470	H232R	probably benign	Het
Gm5431	G	T	11: 48,888,490	A535D	probably damaging	Het
Gm8300	G	T	12: 87,516,618		probably benign	Het
Gm906	A	T	13: 50,246,971	Y440N	possibly damaging	Het
Jarid2	C	T	13: 44,902,985	P556S	probably damaging	Het
Map3k4	C	A	17: 12,248,916	G1077V	probably damaging	Het
Mast4	C	T	13: 102,804,647	V301I	probably damaging	Het
Mlxip	A	G	5: 123,445,672	T433A	possibly damaging	Het
Mus81	G	T	19: 5,485,526	H199Q	probably benign	Het
Mylk3	G	A	8: 85,359,263	T54M	probably damaging	Het
Nalcn	A	G	14: 123,314,094	F1034L	possibly damaging	Het
Nfatc1	A	C	18: 80,667,013	S513A	probably benign	Het
Ninj2	A	G	6: 120,198,131	I88V	possibly damaging	Het
Nomo1	C	T	7: 46,045,967	P277L	probably damaging	Het
Nup214	C	T	2: 32,051,798	S571L	probably damaging	Het
Olfr1469	T	A	19: 13,411,428	N286K	probably damaging	Het
Olfr461	T	C	6: 40,544,656	S108G	probably benign	Het
Olfr980	T	A	9: 40,006,713	M79L	probably benign	Het
Pcdh15	C	T	10: 74,502,687	P1005S	probably damaging	Het
Pkhd1l1	G	A	15: 44,511,674	A942T	possibly damaging	Het
Plagl1	T	C	10: 13,125,116	C34R	probably damaging	Het
Plekha2	T	C	8: 25,059,264	Q168R	probably benign	Het
Plekha6	G	A	1: 133,263,818	A146T	probably benign	Het
Plekhm3	T	G	1: 64,892,753	K564T	possibly damaging	Het
Plpp2	A	G	10: 79,530,546	V26A	possibly damaging	Het
Prdm10	T	G	9: 31,329,823	Y302*	probably null	Het
Prdm8	A	G	5: 98,184,612	E124G	probably damaging	Het
Prg4	T	G	1: 150,455,906		probably benign	Het
Qser1	A	G	2: 104,788,130	V779A	probably benign	Het
Rbm39	G	A	2: 156,167,584	R123C	probably damaging	Het
Ric1	C	T	19: 29,587,772	P640S	probably damaging	Het
Rpl14	G	A	9: 120,574,227		probably benign	Het
Rsl1d1	T	A	16: 11,193,694	D382V	probably benign	Het
Rubcn	G	T	16: 32,868,144		probably benign	Het
Sec16a	G	A	2: 26,430,486	R1361C	probably damaging	Het
Slc26a11	T	G	11: 119,356,972	V41G	probably damaging	Het
Slc41a2	A	G	10: 83,316,096	F172L	possibly damaging	Het
Slc4a4	A	C	5: 89,179,831	Y674S	probably damaging	Het
Strc	A	C	2: 121,378,014	M292R	probably benign	Het
Syde2	A	G	3: 145,988,626	T210A	probably benign	Het
Tcf7l2	C	A	19: 55,755,048	A97E	probably benign	Het
Tenm3	C	T	8: 48,236,439	D2038N	probably damaging	Het
Tepsin	G	A	11: 120,095,364	T168M	probably damaging	Het
Tex15	A	T	8: 33,557,428	M178L	probably benign	Het
Tgfbr2	T	C	9: 116,110,051	N236S	probably damaging	Het
Tnrc18	A	G	5: 142,727,989	V2531A	probably damaging	Het
Ttn	T	G	2: 76,895,423		probably benign	Het
Tubgcp3	G	T	8: 12,637,000	D630E	probably damaging	Het
Ubr4	G	A	4: 139,406,528	W745*	probably null	Het
Vmn2r115	G	A	17: 23,346,015	G292D	probably benign	Het
Vmn2r38	T	A	7: 9,075,341	K681*	probably null	Het
Zfp423	A	G	8: 87,803,779	V13A	probably benign	Het
Zfp512b	A	G	2: 181,586,348	I5T	possibly damaging	Het
Zmynd8	C	T	2: 165,875,750	E14K	probably damaging	Het

Other mutations in Xrcc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00701:Xrcc6	APN	15	82017200	critical splice donor site	probably null
IGL01394:Xrcc6	APN	15	82025661	missense	possibly damaging	0.69
IGL01648:Xrcc6	APN	15	82025634	missense	probably damaging	0.96
R0312:Xrcc6	UTSW	15	82027222	splice site	probably null
R0522:Xrcc6	UTSW	15	82022592	splice site	probably benign
R1172:Xrcc6	UTSW	15	82031163	missense	probably damaging	1.00
R1173:Xrcc6	UTSW	15	82031163	missense	probably damaging	1.00
R1218:Xrcc6	UTSW	15	82022941	missense	probably benign	0.00
R1269:Xrcc6	UTSW	15	82022847	missense	possibly damaging	0.49
R1677:Xrcc6	UTSW	15	82029699	missense	probably benign
R2049:Xrcc6	UTSW	15	82022977	missense	probably damaging	1.00
R2140:Xrcc6	UTSW	15	82022977	missense	probably damaging	1.00
R2142:Xrcc6	UTSW	15	82022977	missense	probably damaging	1.00
R3737:Xrcc6	UTSW	15	82029631	missense	probably damaging	1.00
R3870:Xrcc6	UTSW	15	82025684	missense	probably benign	0.16
R3906:Xrcc6	UTSW	15	82029571	missense	probably benign	0.01
R4197:Xrcc6	UTSW	15	82029224	missense	probably benign	0.06
R4589:Xrcc6	UTSW	15	82022460	missense	probably damaging	1.00
R4941:Xrcc6	UTSW	15	82039812	missense	probably damaging	1.00
R5318:Xrcc6	UTSW	15	82037507	missense	probably damaging	1.00
R5356:Xrcc6	UTSW	15	82029218	missense	probably benign	0.00
R5576:Xrcc6	UTSW	15	82022492	missense	probably damaging	1.00
R6157:Xrcc6	UTSW	15	82029104	intron	probably null
R6596:Xrcc6	UTSW	15	82022954	start codon destroyed	probably null	0.58
R6904:Xrcc6	UTSW	15	82029122	missense	probably benign	0.19
R7098:Xrcc6	UTSW	15	82035754	nonsense	probably null
R7213:Xrcc6	UTSW	15	82016826	intron	probably benign
R7642:Xrcc6	UTSW	15	82016477	critical splice donor site	probably null
X0063:Xrcc6	UTSW	15	82022493	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- CTGTTAGTCTGACTTTCACGCG -3'
(R):5'- TGATTCCCTGGTTTTGGCAAAC -3'

Sequencing Primer
(F):5'- TGACTTTCACGCGTGGCC -3'
(R):5'- CCCTGGTTTTGGCAAACTGAACAG -3'

Posted On

2018-11-28