Mutagenetix > Incidental Mutation

Incidental Mutation 'R5990:Xrcc1'

481941

Institutional Source

Beutler Lab

Gene Symbol

Xrcc1

Ensembl Gene

ENSMUSG00000051768

Gene Name

X-ray repair complementing defective repair in Chinese hamster cells 1

Synonyms

Xrcc-1

MMRRC Submission

044170-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5990 (G1)

Quality Score

211.009

Status

Validated

Chromosome

Chromosomal Location

24546289-24573440 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24567868 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 381 (V381M)

Ref Sequence

ENSEMBL: ENSMUSP00000146105 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063249] [ENSMUST00000205573]

AlphaFold

Q60596

Predicted Effect

probably damaging
Transcript: ENSMUST00000063249
AA Change: V381M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000070995
Gene: ENSMUSG00000051768
AA Change: V381M

Domain	Start	End	E-Value	Type
Pfam:XRCC1_N	1	151	6.9e-66	PFAM
low complexity region	212	238	N/A	INTRINSIC
low complexity region	278	294	N/A	INTRINSIC
BRCT	317	393	8e-19	SMART
low complexity region	407	424	N/A	INTRINSIC
low complexity region	444	459	N/A	INTRINSIC
BRCT	538	617	5.5e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205453

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205564

Predicted Effect

probably damaging
Transcript: ENSMUST00000205573
AA Change: V381M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205575

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205804

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206067

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206153

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206429

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206538

Meta Mutation Damage Score

0.4590

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

99% (77/78)

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 involved in the efficient repair of DNA single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants accumulate unrepaired DNA strand breaks in the egg cylinder, show increased cell death in epiblast, developmental arrest at embryonic day 6.5, morphological anomalies in visceral embryonic endoderm by day 7.5 and die by day 8.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	T	10: 76,449,289	M11L	probably benign	Het
Acad10	A	G	5: 121,645,405	L319P	probably damaging	Het
Adam12	C	A	7: 133,931,736	C471F	probably damaging	Het
Arfgef1	A	G	1: 10,172,921	Y1065H	probably damaging	Het
Atp8b3	G	A	10: 80,525,697	T797M	possibly damaging	Het
Auts2	G	A	5: 131,476,895		probably benign	Het
AW209491	C	T	13: 14,637,780	A406V	probably benign	Het
Ccdc146	A	G	5: 21,318,182	S286P	probably benign	Het
Chsy3	GT	G	18: 59,176,166	163	probably null	Het
Cmtr1	T	C	17: 29,702,161	Y794H	probably benign	Het
Copb2	A	G	9: 98,570,325	E54G	probably damaging	Het
Ctsk	A	T	3: 95,501,456	H77L	probably damaging	Het
Dnah3	T	C	7: 120,073,541	Y546C	probably benign	Het
Ephb2	A	T	4: 136,696,055	V304E	probably benign	Het
Ern1	C	T	11: 106,411,769	V420I	probably benign	Het
Esrrg	A	T	1: 188,198,798	E339V	probably damaging	Het
Fbxo10	A	C	4: 45,061,960	F189V	probably damaging	Het
Foxl1	G	T	8: 121,128,421	A154S	probably damaging	Het
Frs3	A	G	17: 47,701,677	D103G	possibly damaging	Het
Gdpd4	A	G	7: 98,040,930	T610A	probably benign	Het
Gm10271	A	T	10: 116,972,592	F6L	probably damaging	Het
Gm4847	C	T	1: 166,643,373	S36N	probably benign	Het
Grm8	G	T	6: 27,363,624	L631I	probably damaging	Het
Ints9	T	A	14: 65,039,328	L648Q	probably damaging	Het
Kansl1l	T	C	1: 66,735,726	H647R	probably damaging	Het
Kcnq1	T	A	7: 143,261,368	H501Q	probably damaging	Het
Kctd20	T	C	17: 28,966,910	L409P	probably benign	Het
Kiss1r	A	G	10: 79,918,707	T12A	probably benign	Het
Kndc1	T	A	7: 139,927,420	V1173E	probably damaging	Het
Kprp	T	C	3: 92,824,774	E323G	probably damaging	Het
Krtap10-4	A	T	10: 77,826,607		probably benign	Het
Lrrc37a	A	G	11: 103,500,958	Y1214H	probably benign	Het
Lysmd3	G	A	13: 81,669,588	G228D	probably damaging	Het
Muc16	G	A	9: 18,659,243	A660V	unknown	Het
Muc5b	T	C	7: 141,858,161	C1615R	unknown	Het
Nans	A	T	4: 46,489,441	N28I	probably damaging	Het
Nlrp4b	C	T	7: 10,714,491	S207L	possibly damaging	Het
Nrd1	T	G	4: 109,019,071	F355V	probably damaging	Het
Nrip2	C	T	6: 128,400,016		probably benign	Het
Nufip1	C	T	14: 76,114,188	P161L	probably damaging	Het
Ogdhl	C	T	14: 32,327,114	H114Y	possibly damaging	Het
Olfr1295	T	A	2: 111,564,674	I257F	probably damaging	Het
Olfr160	G	T	9: 37,712,110	H56Q	probably damaging	Het
Opa1	T	A	16: 29,587,018	W134R	probably damaging	Het
Parp14	G	A	16: 35,841,457	P1403S	probably benign	Het
Patl2	T	C	2: 122,124,484	D361G	probably damaging	Het
Pcx	A	G	19: 4,621,266	D1172G	probably damaging	Het
Phax	A	G	18: 56,575,603	T58A	probably benign	Het
Phf11b	T	A	14: 59,324,926	I177L	possibly damaging	Het
Pole	T	A	5: 110,302,144	V819D	probably damaging	Het
Poll	T	C	19: 45,553,155	D458G	possibly damaging	Het
Polr2m	G	A	9: 71,479,320		probably null	Het
Ppp1r9a	C	A	6: 5,134,660	H928N	probably benign	Het
Prdm2	T	C	4: 143,170,113	N102D	probably damaging	Het
Rbm45	A	T	2: 76,370,412	D95V	probably benign	Het
Rdh19	A	G	10: 127,859,594	M226V	probably benign	Het
Rev3l	T	G	10: 39,823,811	S1435A	probably benign	Het
Rgs20	A	G	1: 4,912,330	I305T	probably benign	Het
Rhobtb2	T	C	14: 69,796,369	N469S	probably damaging	Het
Rif1	C	G	2: 52,095,844	L614V	probably damaging	Het
Rps6ka1	A	G	4: 133,866,397	I177T	probably damaging	Het
Samd12	T	A	15: 53,719,623	D105V	probably damaging	Het
Setd3	A	T	12: 108,160,335	D88E	probably benign	Het
Sfmbt2	G	T	2: 10,579,381	V850L	possibly damaging	Het
Slc26a10	C	A	10: 127,178,758	A195S	possibly damaging	Het
Smcp	C	A	3: 92,584,250	A97S	unknown	Het
Stxbp5	G	A	10: 9,835,933	H248Y	probably damaging	Het
Syne2	T	C	12: 76,024,144	L4457P	probably benign	Het
Tbx3	A	G	5: 119,680,529	T390A	probably benign	Het
Tmeff2	G	A	1: 50,979,442	W194*	probably null	Het
Tmem120b	G	A	5: 123,104,481	R174Q	probably damaging	Het
Trio	A	G	15: 27,891,459	V402A	probably benign	Het
Ttll2	C	A	17: 7,352,367	G54W	possibly damaging	Het
Uba7	G	A	9: 107,981,234	V786M	probably damaging	Het
Vmn2r32	T	C	7: 7,479,810	E55G	probably damaging	Het
Wdr35	A	G	12: 9,016,511	D724G	probably damaging	Het
Zdhhc11	T	A	13: 73,979,184	W227R	probably benign	Het
Zfp341	T	C	2: 154,645,659	S681P	probably damaging	Het
Zfp735	T	A	11: 73,690,348	D70E	possibly damaging	Het
Zmat4	G	A	8: 23,929,263	A104T	probably damaging	Het

Other mutations in Xrcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Xrcc1	APN	7	24547884	critical splice donor site	probably null
IGL01830:Xrcc1	APN	7	24573342	utr 3 prime	probably benign
IGL02349:Xrcc1	APN	7	24567042	nonsense	probably null
IGL02433:Xrcc1	APN	7	24565554	missense	possibly damaging	0.96
IGL03131:Xrcc1	APN	7	24573294	nonsense	probably null
Bilberry	UTSW	7	24570218	missense	probably damaging	1.00
R0090:Xrcc1	UTSW	7	24570217	missense	probably damaging	0.99
R0517:Xrcc1	UTSW	7	24570319	splice site	probably benign
R0612:Xrcc1	UTSW	7	24570319	splice site	probably benign
R1234:Xrcc1	UTSW	7	24567845	missense	possibly damaging	0.71
R1577:Xrcc1	UTSW	7	24565627	nonsense	probably null
R1796:Xrcc1	UTSW	7	24547827	missense	probably damaging	1.00
R1863:Xrcc1	UTSW	7	24570575	missense	possibly damaging	0.65
R3788:Xrcc1	UTSW	7	24566908	missense	probably benign	0.08
R3794:Xrcc1	UTSW	7	24570560	missense	probably benign	0.05
R4806:Xrcc1	UTSW	7	24570480	missense	probably benign	0.14
R5206:Xrcc1	UTSW	7	24567563	missense	probably damaging	1.00
R5414:Xrcc1	UTSW	7	24570218	missense	probably damaging	1.00
R5532:Xrcc1	UTSW	7	24567928	critical splice donor site	probably null
R5624:Xrcc1	UTSW	7	24559845	missense	possibly damaging	0.57
R6603:Xrcc1	UTSW	7	24571034	nonsense	probably null
R6669:Xrcc1	UTSW	7	24547337	missense	probably damaging	1.00
R6716:Xrcc1	UTSW	7	24567146	critical splice donor site	probably null
R6881:Xrcc1	UTSW	7	24547351	nonsense	probably null
R7227:Xrcc1	UTSW	7	24547332	missense	probably damaging	1.00
R8204:Xrcc1	UTSW	7	24572284	missense	possibly damaging	0.88
R8284:Xrcc1	UTSW	7	24572278	missense	probably damaging	1.00
R8285:Xrcc1	UTSW	7	24572278	missense	probably damaging	1.00
R8287:Xrcc1	UTSW	7	24572278	missense	probably damaging	1.00
R9015:Xrcc1	UTSW	7	24572217	missense	probably benign	0.05
R9607:Xrcc1	UTSW	7	24566265	missense	probably benign	0.17
X0019:Xrcc1	UTSW	7	24573128	missense	probably damaging	1.00
X0024:Xrcc1	UTSW	7	24573079	missense	probably damaging	1.00
Z1176:Xrcc1	UTSW	7	24547839	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- AAGTATCGGCCAGACTGGAC -3'
(R):5'- TGGTTTGAGATCGCCTGAGC -3'

Sequencing Primer
(F):5'- ATGTAGGCCTCTGACCTGC -3'
(R):5'- TTGAGATCGCCTGAGCTACCC -3'

Posted On

2017-06-26