Mutagenetix > Incidental Mutation

Incidental Mutation 'R8947:Xrcc6'

681412

Institutional Source

Beutler Lab

Gene Symbol

Xrcc6

Ensembl Gene

ENSMUSG00000022471

Gene Name

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

Synonyms

Ku70, Ku p70, G22p1

MMRRC Submission

068785-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8947 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81872036-81924286 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81913866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 64 (V64E)

Ref Sequence

ENSEMBL: ENSMUSP00000155606 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069530] [ENSMUST00000100399] [ENSMUST00000164779] [ENSMUST00000230729]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000069530
AA Change: V409E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000068559
Gene: ENSMUSG00000022471
AA Change: V409E

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 damaging
Transcript: ENSMUST00000100399
AA Change: V409E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097968
Gene: ENSMUSG00000022471
AA Change: V409E

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: ENSMUST00000164779

SMART Domains

Protein: ENSMUSP00000127927
Gene: ENSMUSG00000022471

Domain	Start	End	E-Value	Type
Pfam:Ku_N	1	96	4.6e-29	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000230729
AA Change: V64E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (93/94)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,665,292 (GRCm39)	F141L	unknown	Het
A2ml1	G	T	6: 128,529,219 (GRCm39)	N974K	probably damaging	Het
Abcg8	T	C	17: 84,999,246 (GRCm39)	L114P	probably damaging	Het
Akt3	A	T	1: 176,958,645 (GRCm39)	W22R	probably damaging	Het
Ank2	C	T	3: 126,736,396 (GRCm39)		probably benign	Het
Ap1g1	C	T	8: 110,589,964 (GRCm39)		probably benign	Het
Arhgef19	T	A	4: 140,973,618 (GRCm39)	V35E	possibly damaging	Het
Baz2b	T	C	2: 59,778,583 (GRCm39)	D759G	probably benign	Het
BC051665	C	A	13: 60,930,004 (GRCm39)	G320W	probably damaging	Het
Bche	T	A	3: 73,608,761 (GRCm39)	T222S	probably damaging	Het
C8a	T	C	4: 104,679,326 (GRCm39)	D444G	probably damaging	Het
Cacna1e	A	T	1: 154,277,896 (GRCm39)	S2019T	probably benign	Het
Carm1	T	C	9: 21,497,749 (GRCm39)	I373T	probably damaging	Het
Ccdc39	T	C	3: 33,869,609 (GRCm39)		probably benign	Het
Clic5	A	T	17: 44,553,148 (GRCm39)		probably benign	Het
Cntn3	A	G	6: 102,414,864 (GRCm39)	F28L	probably damaging	Het
Col6a5	C	T	9: 105,822,833 (GRCm39)	E175K	unknown	Het
Cpb2	T	C	14: 75,515,627 (GRCm39)	Y352H	probably damaging	Het
Cpeb3	A	T	19: 37,152,366 (GRCm39)	D3E	probably damaging	Het
Ctsl	T	C	13: 64,514,840 (GRCm39)	T155A	probably damaging	Het
Cygb	C	T	11: 116,540,645 (GRCm39)	A114T	probably damaging	Het
Cyp11a1	T	C	9: 57,924,738 (GRCm39)	V17A	probably benign	Het
Dhcr7	T	G	7: 143,400,959 (GRCm39)	I374S	probably damaging	Het
Dhx36	T	C	3: 62,380,387 (GRCm39)	R807G	probably benign	Het
Diaph1	A	T	18: 37,986,754 (GRCm39)	V1077E	probably damaging	Het
Ehmt2	A	G	17: 35,127,280 (GRCm39)	E131G	possibly damaging	Het
Evpl	A	G	11: 116,112,164 (GRCm39)	I1842T	probably damaging	Het
Fastk	C	A	5: 24,646,649 (GRCm39)	C294F	probably damaging	Het
Fndc5	T	C	4: 129,030,929 (GRCm39)	C20R	probably benign	Het
Gm7298	C	A	6: 121,757,553 (GRCm39)	Q1053K	possibly damaging	Het
Gm8362	A	G	14: 18,151,405 (GRCm39)		probably null	Het
Gmps	T	A	3: 63,906,098 (GRCm39)	I465N	probably damaging	Het
Heatr4	T	G	12: 84,001,431 (GRCm39)	M904L	probably benign	Het
Hhip	T	A	8: 80,771,785 (GRCm39)	D175V	probably damaging	Het
Hmcn2	G	A	2: 31,278,220 (GRCm39)	V1641M	probably damaging	Het
Hoxa5	T	G	6: 52,179,776 (GRCm39)	T200P	probably damaging	Het
Ift122	C	A	6: 115,901,368 (GRCm39)	A1050D	probably benign	Het
Igf2bp2	C	A	16: 21,897,473 (GRCm39)	E247*	probably null	Het
Irak1bp1	T	A	9: 82,728,846 (GRCm39)	L259H	probably damaging	Het
Irgm1	G	A	11: 48,759,575 (GRCm39)		probably benign	Het
Itih1	A	T	14: 30,657,866 (GRCm39)		probably benign	Het
Itpk1	A	T	12: 102,536,582 (GRCm39)	C355S	probably benign	Het
Kcng4	T	C	8: 120,352,452 (GRCm39)	E486G	possibly damaging	Het
Kif20b	T	C	19: 34,918,629 (GRCm39)	V671A	possibly damaging	Het
Kif28	T	G	1: 179,544,320 (GRCm39)	I345L	possibly damaging	Het
Klri2	C	G	6: 129,710,742 (GRCm39)		probably null	Het
Kntc1	T	C	5: 123,925,041 (GRCm39)	V1118A	probably benign	Het
Lpin2	T	A	17: 71,511,871 (GRCm39)	I34N	probably benign	Het
Lrch3	T	A	16: 32,802,199 (GRCm39)	V264D	possibly damaging	Het
Lrrk2	C	T	15: 91,586,473 (GRCm39)	Q430*	probably null	Het
Map10	T	G	8: 126,397,839 (GRCm39)	S411A	probably benign	Het
Map1a	A	T	2: 121,135,450 (GRCm39)	I2089F	probably benign	Het
Med12l	T	A	3: 58,984,443 (GRCm39)		probably benign	Het
Mypn	T	A	10: 63,005,156 (GRCm39)	Q317L	probably damaging	Het
Ncan	T	A	8: 70,555,171 (GRCm39)	I999F	probably damaging	Het
Nmrk2	C	A	10: 81,035,539 (GRCm39)	R134L	probably damaging	Het
Or4k42	C	T	2: 111,320,042 (GRCm39)	V154I	probably benign	Het
Or51f1d	T	A	7: 102,701,315 (GRCm39)	V270E	probably damaging	Het
Or5k17	T	C	16: 58,746,433 (GRCm39)	N167S	probably benign	Het
Or6z7	A	G	7: 6,483,246 (GRCm39)	V303A	probably benign	Het
Or8b1c	T	A	9: 38,384,685 (GRCm39)	I214N	probably damaging	Het
Osbpl1a	A	G	18: 12,899,858 (GRCm39)		probably null	Het
Pcdh1	T	C	18: 38,332,073 (GRCm39)	D310G	possibly damaging	Het
Pkn2	C	T	3: 142,517,674 (GRCm39)		probably null	Het
Plch1	T	A	3: 63,691,547 (GRCm39)	M31L	probably damaging	Het
Polg2	A	G	11: 106,659,170 (GRCm39)	F448L	probably damaging	Het
Ppp4r3b	A	G	11: 29,150,758 (GRCm39)	T475A	possibly damaging	Het
Prdm13	C	T	4: 21,678,817 (GRCm39)	E558K	probably damaging	Het
Prdm9	T	A	17: 15,764,270 (GRCm39)	I837F	possibly damaging	Het
R3hdm1	T	A	1: 128,102,694 (GRCm39)	M125K	possibly damaging	Het
Rbm39	A	T	2: 155,990,276 (GRCm39)	V468E	probably damaging	Het
Rnasel	T	A	1: 153,630,777 (GRCm39)	V431E	probably damaging	Het
Rps2	T	A	17: 24,940,227 (GRCm39)	D220E	probably benign	Het
Rsf1	T	C	7: 97,331,059 (GRCm39)		probably benign	Het
Rsph10b	G	T	5: 143,913,952 (GRCm39)	A710S	probably benign	Het
Sez6	A	T	11: 77,844,353 (GRCm39)	T59S	probably damaging	Het
Sf3b1	A	T	1: 55,039,444 (GRCm39)	V727E	probably damaging	Het
Slit2	T	G	5: 48,407,140 (GRCm39)	L857R	probably damaging	Het
Spata31g1	T	A	4: 42,972,097 (GRCm39)	S477T	probably benign	Het
Sspo	T	G	6: 48,425,504 (GRCm39)	C42G	probably damaging	Het
Strc	C	T	2: 121,201,470 (GRCm39)	D1245N	probably benign	Het
Supv3l1	T	A	10: 62,268,118 (GRCm39)	T576S	probably benign	Het
Tecrl	C	T	5: 83,461,154 (GRCm39)	R101Q	probably benign	Het
Tmeff2	A	G	1: 51,220,952 (GRCm39)	Y309C	probably damaging	Het
Tmem43	T	A	6: 91,462,362 (GRCm39)	W316R	probably damaging	Het
Tmigd3	T	C	3: 105,821,554 (GRCm39)	V141A	probably benign	Het
Trav9-1	T	C	14: 53,725,584 (GRCm39)	F8L	probably benign	Het
Trbv5	T	G	6: 41,039,641 (GRCm39)	F82C	probably damaging	Het
Ubtf	T	C	11: 102,205,802 (GRCm39)	N41S	possibly damaging	Het
Uggt1	T	C	1: 36,197,229 (GRCm39)	T1225A	probably benign	Het
Vmn1r72	T	C	7: 11,403,807 (GRCm39)	R214G	possibly damaging	Het
Vmn2r12	T	G	5: 109,234,522 (GRCm39)	K563N	possibly damaging	Het
Vmn2r83	T	C	10: 79,304,873 (GRCm39)	S28P	probably benign	Het
Vwa8	T	G	14: 79,438,552 (GRCm39)	L1875R	probably damaging	Het
Zfp292	T	C	4: 34,811,835 (GRCm39)	Y403C	probably damaging	Het
Zfp955a	A	T	17: 33,460,955 (GRCm39)	H392Q	probably damaging	Het
Zfyve19	T	C	2: 119,041,290 (GRCm39)	S69P	probably damaging	Het

Other mutations in Xrcc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00701:Xrcc6	APN	15	81,901,401 (GRCm39)	critical splice donor site	probably null
IGL01394:Xrcc6	APN	15	81,909,862 (GRCm39)	missense	possibly damaging	0.69
IGL01648:Xrcc6	APN	15	81,909,835 (GRCm39)	missense	probably damaging	0.96
rarity	UTSW	15	81,915,352 (GRCm39)	missense	probably damaging	1.00
R0312:Xrcc6	UTSW	15	81,911,423 (GRCm39)	splice site	probably null
R0522:Xrcc6	UTSW	15	81,906,793 (GRCm39)	splice site	probably benign
R1172:Xrcc6	UTSW	15	81,915,364 (GRCm39)	missense	probably damaging	1.00
R1173:Xrcc6	UTSW	15	81,915,364 (GRCm39)	missense	probably damaging	1.00
R1218:Xrcc6	UTSW	15	81,907,142 (GRCm39)	missense	probably benign	0.00
R1269:Xrcc6	UTSW	15	81,907,048 (GRCm39)	missense	possibly damaging	0.49
R1677:Xrcc6	UTSW	15	81,913,900 (GRCm39)	missense	probably benign
R2049:Xrcc6	UTSW	15	81,907,178 (GRCm39)	missense	probably damaging	1.00
R2140:Xrcc6	UTSW	15	81,907,178 (GRCm39)	missense	probably damaging	1.00
R2142:Xrcc6	UTSW	15	81,907,178 (GRCm39)	missense	probably damaging	1.00
R3737:Xrcc6	UTSW	15	81,913,832 (GRCm39)	missense	probably damaging	1.00
R3870:Xrcc6	UTSW	15	81,909,885 (GRCm39)	missense	probably benign	0.16
R3906:Xrcc6	UTSW	15	81,913,772 (GRCm39)	missense	probably benign	0.01
R4197:Xrcc6	UTSW	15	81,913,425 (GRCm39)	missense	probably benign	0.06
R4589:Xrcc6	UTSW	15	81,906,661 (GRCm39)	missense	probably damaging	1.00
R4941:Xrcc6	UTSW	15	81,924,013 (GRCm39)	missense	probably damaging	1.00
R5318:Xrcc6	UTSW	15	81,921,708 (GRCm39)	missense	probably damaging	1.00
R5356:Xrcc6	UTSW	15	81,913,419 (GRCm39)	missense	probably benign	0.00
R5576:Xrcc6	UTSW	15	81,906,693 (GRCm39)	missense	probably damaging	1.00
R6157:Xrcc6	UTSW	15	81,913,305 (GRCm39)	splice site	probably null
R6596:Xrcc6	UTSW	15	81,907,155 (GRCm39)	start codon destroyed	probably null	0.58
R6904:Xrcc6	UTSW	15	81,913,323 (GRCm39)	missense	probably benign	0.19
R6970:Xrcc6	UTSW	15	81,915,375 (GRCm39)	missense	probably benign	0.03
R7098:Xrcc6	UTSW	15	81,919,955 (GRCm39)	nonsense	probably null
R7213:Xrcc6	UTSW	15	81,901,027 (GRCm39)	intron	probably benign
R7642:Xrcc6	UTSW	15	81,900,678 (GRCm39)	critical splice donor site	probably null
R7845:Xrcc6	UTSW	15	81,900,678 (GRCm39)	critical splice donor site	probably null
R8105:Xrcc6	UTSW	15	81,915,352 (GRCm39)	missense	probably damaging	1.00
R8297:Xrcc6	UTSW	15	81,913,463 (GRCm39)	missense	probably damaging	1.00
R8788:Xrcc6	UTSW	15	81,911,583 (GRCm39)	missense	probably damaging	1.00
R9472:Xrcc6	UTSW	15	81,913,328 (GRCm39)	nonsense	probably null
X0063:Xrcc6	UTSW	15	81,906,694 (GRCm39)	missense	possibly damaging	0.92
Z1176:Xrcc6	UTSW	15	81,913,414 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATACCTACAAGAGATGCAGCTG -3'
(R):5'- TGTCGAGTGGACCTGCAAAAC -3'

Sequencing Primer
(F):5'- CAAGAGATGCAGCTGGAGTAAAAAG -3'
(R):5'- CGAGTGGACCTGCAAAACCTTTTAAG -3'

Posted On

2021-08-31