Mutagenetix > Incidental Mutation

Incidental Mutation 'R0612:Xrcc1'

54813

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

038801-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0612 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24246124-24272863 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 24269744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146105 (fasta)

Gene Model

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

AlphaFold

Q60596

Predicted Effect

probably benign
Transcript: ENSMUST00000063249

SMART Domains

Protein: ENSMUSP00000070995
Gene: ENSMUSG00000051768

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 benign
Transcript: ENSMUST00000205573

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205575

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205804

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206067

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206429

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206538

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206153

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.6%
3x: 99.0%
10x: 97.2%
20x: 93.5%

Validation Efficiency

98% (92/94)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,936,478 (GRCm39)	L181P	probably damaging	Het
Aldh3a1	A	T	11: 61,105,445 (GRCm39)	I184F	probably damaging	Het
Arl6ip4	A	G	5: 124,254,596 (GRCm39)	S30G	probably benign	Het
Atp9b	T	C	18: 80,797,171 (GRCm39)	E891G	possibly damaging	Het
Brsk1	T	C	7: 4,710,425 (GRCm39)	L478P	possibly damaging	Het
Btaf1	G	A	19: 36,946,537 (GRCm39)	V448I	probably damaging	Het
Cab39	T	C	1: 85,746,236 (GRCm39)		probably null	Het
Cacna2d4	G	T	6: 119,258,679 (GRCm39)		probably benign	Het
Capzb	C	T	4: 139,018,340 (GRCm39)	S253L	probably benign	Het
Ccdc174	A	G	6: 91,867,873 (GRCm39)		probably benign	Het
Ccdc180	C	T	4: 45,927,969 (GRCm39)	A1168V	probably damaging	Het
Cdh19	T	C	1: 110,820,900 (GRCm39)		probably benign	Het
Cdh8	T	C	8: 100,127,546 (GRCm39)	T22A	probably benign	Het
Cdk10	T	C	8: 123,957,419 (GRCm39)	V181A	probably benign	Het
Ceacam15	A	C	7: 16,407,445 (GRCm39)	L24*	probably null	Het
Cftr	A	C	6: 18,198,125 (GRCm39)	T20P	probably benign	Het
Cip2a	C	T	16: 48,819,402 (GRCm39)	A112V	probably benign	Het
Clstn3	T	C	6: 124,426,459 (GRCm39)	T576A	probably damaging	Het
Col1a2	G	A	6: 4,516,003 (GRCm39)	V165I	unknown	Het
Copg2	A	T	6: 30,838,404 (GRCm39)		probably null	Het
Cps1	A	G	1: 67,178,929 (GRCm39)	H47R	probably benign	Het
Cytip	T	C	2: 58,024,202 (GRCm39)	D206G	possibly damaging	Het
Dcaf8l	G	A	X: 88,448,972 (GRCm39)	R386*	probably null	Het
Dnmt1	C	T	9: 20,829,489 (GRCm39)	E824K	probably damaging	Het
Dock7	A	C	4: 98,877,470 (GRCm39)	V442G	probably benign	Het
Dsc1	T	G	18: 20,247,573 (GRCm39)	K14T	probably damaging	Het
Dync1h1	C	T	12: 110,582,930 (GRCm39)	P371L	probably damaging	Het
Enah	A	G	1: 181,734,013 (GRCm39)		probably benign	Het
Entrep2	C	T	7: 64,411,549 (GRCm39)	V395M	probably benign	Het
Fastkd1	T	C	2: 69,542,727 (GRCm39)	T27A	probably benign	Het
Fcho1	A	G	8: 72,168,168 (GRCm39)	L248P	probably damaging	Het
Fezf1	A	T	6: 23,247,028 (GRCm39)	V268D	probably damaging	Het
Fgd2	T	A	17: 29,597,321 (GRCm39)	V547E	probably benign	Het
Flnb	T	A	14: 7,887,682 (GRCm38)		probably benign	Het
Gabrg3	A	G	7: 56,379,454 (GRCm39)	M316T	probably damaging	Het
Gigyf2	T	C	1: 87,376,802 (GRCm39)	F1265L	probably damaging	Het
Git2	A	G	5: 114,890,342 (GRCm39)	S271P	probably damaging	Het
Gorab	T	C	1: 163,224,738 (GRCm39)	D21G	possibly damaging	Het
Gpr179	T	A	11: 97,229,264 (GRCm39)	T964S	possibly damaging	Het
Hdac5	A	G	11: 102,087,078 (GRCm39)	V1042A	possibly damaging	Het
Hoxa2	T	A	6: 52,140,540 (GRCm39)	T149S	probably damaging	Het
Igsf8	G	T	1: 172,146,974 (GRCm39)	*108L	probably null	Het
Il1rap	C	T	16: 26,519,855 (GRCm39)	T307M	possibly damaging	Het
Itih2	T	C	2: 10,122,205 (GRCm39)	D232G	probably benign	Het
Jak3	A	G	8: 72,136,021 (GRCm39)	Y607C	probably damaging	Het
Kcnh1	C	T	1: 191,959,361 (GRCm39)	P305L	probably damaging	Het
Lrrc7	T	A	3: 157,869,990 (GRCm39)	I644F	probably damaging	Het
Lrrn2	T	C	1: 132,865,466 (GRCm39)	L177P	probably damaging	Het
Lypd8l	A	G	11: 58,502,799 (GRCm39)		probably null	Het
Map4k3	C	A	17: 80,909,622 (GRCm39)	K712N	probably damaging	Het
Med11	A	G	11: 70,342,910 (GRCm39)	T36A	probably benign	Het
Mmp14	A	G	14: 54,677,891 (GRCm39)	D504G	probably damaging	Het
Mob1a	A	G	6: 83,311,140 (GRCm39)	T120A	probably benign	Het
Mr1	T	A	1: 155,013,436 (GRCm39)	D47V	probably damaging	Het
Nacad	G	T	11: 6,551,382 (GRCm39)	A603E	possibly damaging	Het
Nwd1	T	A	8: 73,394,308 (GRCm39)	W524R	probably damaging	Het
Or11g26	A	T	14: 50,752,939 (GRCm39)	T93S	probably benign	Het
Or13a19	T	A	7: 139,903,101 (GRCm39)	M163K	possibly damaging	Het
Or4e1	T	C	14: 52,701,008 (GRCm39)	T153A	probably benign	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pde6c	T	A	19: 38,121,694 (GRCm39)	C101S	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pdlim4	G	A	11: 53,959,713 (GRCm39)	R16C	probably damaging	Het
Pfkp	A	G	13: 6,655,670 (GRCm39)		probably null	Het
Plcg2	T	A	8: 118,300,104 (GRCm39)	S225T	probably benign	Het
Pramel1	T	C	4: 143,124,101 (GRCm39)	S259P	probably damaging	Het
Pramel27	G	T	4: 143,578,658 (GRCm39)		probably benign	Het
Rc3h2	T	C	2: 37,301,227 (GRCm39)	N92D	possibly damaging	Het
Ric8b	C	A	10: 84,837,745 (GRCm39)	N517K	probably damaging	Het
Rnf34	G	A	5: 123,002,237 (GRCm39)	R65H	probably damaging	Het
Rraga	C	T	4: 86,494,564 (GRCm39)	R137C	probably damaging	Het
Scube2	C	T	7: 109,403,971 (GRCm39)		probably benign	Het
Slc28a2b	T	C	2: 122,352,179 (GRCm39)	M339T	probably damaging	Het
Spata31d1d	T	C	13: 59,875,787 (GRCm39)	I583V	probably benign	Het
Suox	T	C	10: 128,506,525 (GRCm39)	E501G	probably benign	Het
Susd1	A	G	4: 59,390,561 (GRCm39)		probably benign	Het
Tac1	T	C	6: 7,555,653 (GRCm39)	S14P	probably damaging	Het
Tbc1d8	T	C	1: 39,411,596 (GRCm39)	E1080G	possibly damaging	Het
Tll1	A	C	8: 64,524,344 (GRCm39)	S447R	possibly damaging	Het
Tmem132e	G	A	11: 82,334,198 (GRCm39)	V662M	probably damaging	Het
Upf2	G	T	2: 6,038,909 (GRCm39)		probably benign	Het
Uspl1	A	G	5: 149,151,767 (GRCm39)	E989G	probably damaging	Het
Vmn1r58	T	C	7: 5,413,618 (GRCm39)	H204R	probably damaging	Het
Vmn2r25	A	T	6: 123,816,481 (GRCm39)	C367S	probably damaging	Het
Vps13b	A	T	15: 35,623,803 (GRCm39)	Q1240L	probably benign	Het
Yeats2	T	G	16: 20,005,175 (GRCm39)	V385G	probably benign	Het

Other mutations in Xrcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Xrcc1	APN	7	24,247,309 (GRCm39)	critical splice donor site	probably null
IGL01830:Xrcc1	APN	7	24,272,767 (GRCm39)	utr 3 prime	probably benign
IGL02349:Xrcc1	APN	7	24,266,467 (GRCm39)	nonsense	probably null
IGL02433:Xrcc1	APN	7	24,264,979 (GRCm39)	missense	possibly damaging	0.96
IGL03131:Xrcc1	APN	7	24,272,719 (GRCm39)	nonsense	probably null
Bilberry	UTSW	7	24,269,643 (GRCm39)	missense	probably damaging	1.00
R0090:Xrcc1	UTSW	7	24,269,642 (GRCm39)	missense	probably damaging	0.99
R0517:Xrcc1	UTSW	7	24,269,744 (GRCm39)	splice site	probably benign
R1234:Xrcc1	UTSW	7	24,267,270 (GRCm39)	missense	possibly damaging	0.71
R1577:Xrcc1	UTSW	7	24,265,052 (GRCm39)	nonsense	probably null
R1796:Xrcc1	UTSW	7	24,247,252 (GRCm39)	missense	probably damaging	1.00
R1863:Xrcc1	UTSW	7	24,270,000 (GRCm39)	missense	possibly damaging	0.65
R3788:Xrcc1	UTSW	7	24,266,333 (GRCm39)	missense	probably benign	0.08
R3794:Xrcc1	UTSW	7	24,269,985 (GRCm39)	missense	probably benign	0.05
R4806:Xrcc1	UTSW	7	24,269,905 (GRCm39)	missense	probably benign	0.14
R5206:Xrcc1	UTSW	7	24,266,988 (GRCm39)	missense	probably damaging	1.00
R5414:Xrcc1	UTSW	7	24,269,643 (GRCm39)	missense	probably damaging	1.00
R5532:Xrcc1	UTSW	7	24,267,353 (GRCm39)	critical splice donor site	probably null
R5624:Xrcc1	UTSW	7	24,259,270 (GRCm39)	missense	possibly damaging	0.57
R5990:Xrcc1	UTSW	7	24,267,293 (GRCm39)	missense	probably damaging	1.00
R6603:Xrcc1	UTSW	7	24,270,459 (GRCm39)	nonsense	probably null
R6669:Xrcc1	UTSW	7	24,246,762 (GRCm39)	missense	probably damaging	1.00
R6716:Xrcc1	UTSW	7	24,266,571 (GRCm39)	critical splice donor site	probably null
R6881:Xrcc1	UTSW	7	24,246,776 (GRCm39)	nonsense	probably null
R7227:Xrcc1	UTSW	7	24,246,757 (GRCm39)	missense	probably damaging	1.00
R8204:Xrcc1	UTSW	7	24,271,709 (GRCm39)	missense	possibly damaging	0.88
R8284:Xrcc1	UTSW	7	24,271,703 (GRCm39)	missense	probably damaging	1.00
R8285:Xrcc1	UTSW	7	24,271,703 (GRCm39)	missense	probably damaging	1.00
R8287:Xrcc1	UTSW	7	24,271,703 (GRCm39)	missense	probably damaging	1.00
R9015:Xrcc1	UTSW	7	24,271,642 (GRCm39)	missense	probably benign	0.05
R9607:Xrcc1	UTSW	7	24,265,690 (GRCm39)	missense	probably benign	0.17
X0019:Xrcc1	UTSW	7	24,272,553 (GRCm39)	missense	probably damaging	1.00
X0024:Xrcc1	UTSW	7	24,272,504 (GRCm39)	missense	probably damaging	1.00
Z1176:Xrcc1	UTSW	7	24,247,264 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- AGGGCAGCAGGATTCCTTCTCTATC -3'
(R):5'- AAAGCGTGTAGACCTCTCCCTCAG -3'

Sequencing Primer
(F):5'- AGGATTCCTTCTCTATCCCCAC -3'
(R):5'- GTAGACCTCTCCCTCAGATTCTAAC -3'

Posted On

2013-07-11