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

24246124-24272863 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24267293 bp (GRCm39)

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: ENSMUST00000206429

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206153

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: 76,285,123 (GRCm39)	M11L	probably benign	Het
Acad10	A	G	5: 121,783,468 (GRCm39)	L319P	probably damaging	Het
Adam12	C	A	7: 133,533,465 (GRCm39)	C471F	probably damaging	Het
Arfgef1	A	G	1: 10,243,146 (GRCm39)	Y1065H	probably damaging	Het
Atp8b3	G	A	10: 80,361,531 (GRCm39)	T797M	possibly damaging	Het
Auts2	G	A	5: 131,505,734 (GRCm39)		probably benign	Het
AW209491	C	T	13: 14,812,365 (GRCm39)	A406V	probably benign	Het
Ccdc146	A	G	5: 21,523,180 (GRCm39)	S286P	probably benign	Het
Chsy3	GT	G	18: 59,309,238 (GRCm39)	163	probably null	Het
Cmtr1	T	C	17: 29,921,135 (GRCm39)	Y794H	probably benign	Het
Copb2	A	G	9: 98,452,378 (GRCm39)	E54G	probably damaging	Het
Ctsk	A	T	3: 95,408,767 (GRCm39)	H77L	probably damaging	Het
Dnah3	T	C	7: 119,672,764 (GRCm39)	Y546C	probably benign	Het
Ephb2	A	T	4: 136,423,366 (GRCm39)	V304E	probably benign	Het
Ern1	C	T	11: 106,302,595 (GRCm39)	V420I	probably benign	Het
Esrrg	A	T	1: 187,930,995 (GRCm39)	E339V	probably damaging	Het
Fbxo10	A	C	4: 45,061,960 (GRCm39)	F189V	probably damaging	Het
Foxl1	G	T	8: 121,855,160 (GRCm39)	A154S	probably damaging	Het
Frs3	A	G	17: 48,012,602 (GRCm39)	D103G	possibly damaging	Het
Gdpd4	A	G	7: 97,690,137 (GRCm39)	T610A	probably benign	Het
Gm10271	A	T	10: 116,808,497 (GRCm39)	F6L	probably damaging	Het
Gm4847	C	T	1: 166,470,942 (GRCm39)	S36N	probably benign	Het
Grm8	G	T	6: 27,363,623 (GRCm39)	L631I	probably damaging	Het
Ints9	T	A	14: 65,276,777 (GRCm39)	L648Q	probably damaging	Het
Kansl1l	T	C	1: 66,774,885 (GRCm39)	H647R	probably damaging	Het
Kcnq1	T	A	7: 142,815,105 (GRCm39)	H501Q	probably damaging	Het
Kctd20	T	C	17: 29,185,884 (GRCm39)	L409P	probably benign	Het
Kiss1r	A	G	10: 79,754,541 (GRCm39)	T12A	probably benign	Het
Kndc1	T	A	7: 139,507,333 (GRCm39)	V1173E	probably damaging	Het
Kprp	T	C	3: 92,732,081 (GRCm39)	E323G	probably damaging	Het
Krtap10-4	A	T	10: 77,662,441 (GRCm39)		probably benign	Het
Lrrc37a	A	G	11: 103,391,784 (GRCm39)	Y1214H	probably benign	Het
Lysmd3	G	A	13: 81,817,707 (GRCm39)	G228D	probably damaging	Het
Muc16	G	A	9: 18,570,539 (GRCm39)	A660V	unknown	Het
Muc5b	T	C	7: 141,411,898 (GRCm39)	C1615R	unknown	Het
Nans	A	T	4: 46,489,441 (GRCm39)	N28I	probably damaging	Het
Nlrp4b	C	T	7: 10,448,418 (GRCm39)	S207L	possibly damaging	Het
Nrdc	T	G	4: 108,876,268 (GRCm39)	F355V	probably damaging	Het
Nrip2	C	T	6: 128,376,979 (GRCm39)		probably benign	Het
Nufip1	C	T	14: 76,351,628 (GRCm39)	P161L	probably damaging	Het
Ogdhl	C	T	14: 32,049,071 (GRCm39)	H114Y	possibly damaging	Het
Opa1	T	A	16: 29,405,836 (GRCm39)	W134R	probably damaging	Het
Or4k45	T	A	2: 111,395,019 (GRCm39)	I257F	probably damaging	Het
Or8a1b	G	T	9: 37,623,406 (GRCm39)	H56Q	probably damaging	Het
Parp14	G	A	16: 35,661,827 (GRCm39)	P1403S	probably benign	Het
Patl2	T	C	2: 121,954,965 (GRCm39)	D361G	probably damaging	Het
Pcx	A	G	19: 4,671,294 (GRCm39)	D1172G	probably damaging	Het
Phax	A	G	18: 56,708,675 (GRCm39)	T58A	probably benign	Het
Phf11b	T	A	14: 59,562,375 (GRCm39)	I177L	possibly damaging	Het
Pole	T	A	5: 110,450,010 (GRCm39)	V819D	probably damaging	Het
Poll	T	C	19: 45,541,594 (GRCm39)	D458G	possibly damaging	Het
Polr2m	G	A	9: 71,386,602 (GRCm39)		probably null	Het
Ppp1r9a	C	A	6: 5,134,660 (GRCm39)	H928N	probably benign	Het
Prdm2	T	C	4: 142,896,683 (GRCm39)	N102D	probably damaging	Het
Rbm45	A	T	2: 76,200,756 (GRCm39)	D95V	probably benign	Het
Rdh19	A	G	10: 127,695,463 (GRCm39)	M226V	probably benign	Het
Rev3l	T	G	10: 39,699,807 (GRCm39)	S1435A	probably benign	Het
Rgs20	A	G	1: 4,982,553 (GRCm39)	I305T	probably benign	Het
Rhobtb2	T	C	14: 70,033,818 (GRCm39)	N469S	probably damaging	Het
Rif1	C	G	2: 51,985,856 (GRCm39)	L614V	probably damaging	Het
Rps6ka1	A	G	4: 133,593,708 (GRCm39)	I177T	probably damaging	Het
Samd12	T	A	15: 53,583,019 (GRCm39)	D105V	probably damaging	Het
Setd3	A	T	12: 108,126,594 (GRCm39)	D88E	probably benign	Het
Sfmbt2	G	T	2: 10,584,192 (GRCm39)	V850L	possibly damaging	Het
Slc26a10	C	A	10: 127,014,627 (GRCm39)	A195S	possibly damaging	Het
Smcp	C	A	3: 92,491,557 (GRCm39)	A97S	unknown	Het
Stxbp5	G	A	10: 9,711,677 (GRCm39)	H248Y	probably damaging	Het
Syne2	T	C	12: 76,070,918 (GRCm39)	L4457P	probably benign	Het
Tbx3	A	G	5: 119,818,594 (GRCm39)	T390A	probably benign	Het
Tmeff2	G	A	1: 51,018,601 (GRCm39)	W194*	probably null	Het
Tmem120b	G	A	5: 123,242,544 (GRCm39)	R174Q	probably damaging	Het
Trio	A	G	15: 27,891,545 (GRCm39)	V402A	probably benign	Het
Ttll2	C	A	17: 7,619,766 (GRCm39)	G54W	possibly damaging	Het
Uba7	G	A	9: 107,858,433 (GRCm39)	V786M	probably damaging	Het
Vmn2r32	T	C	7: 7,482,809 (GRCm39)	E55G	probably damaging	Het
Wdr35	A	G	12: 9,066,511 (GRCm39)	D724G	probably damaging	Het
Zdhhc11	T	A	13: 74,127,303 (GRCm39)	W227R	probably benign	Het
Zfp341	T	C	2: 154,487,579 (GRCm39)	S681P	probably damaging	Het
Zfp735	T	A	11: 73,581,174 (GRCm39)	D70E	possibly damaging	Het
Zmat4	G	A	8: 24,419,279 (GRCm39)	A104T	probably damaging	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
R0612: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
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'- AAGTATCGGCCAGACTGGAC -3'
(R):5'- TGGTTTGAGATCGCCTGAGC -3'

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

Posted On

2017-06-26