Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03131:Xrcc1'

410316

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Xrcc1

Ensembl Gene

ENSMUSG00000051768

Gene Name

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

Synonyms

Xrcc-1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03131

Quality Score

Status

Chromosome

Chromosomal Location

24246124-24272863 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 24272719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 618 (K618*)

Ref Sequence

ENSEMBL: ENSMUSP00000146105 (fasta)

Gene Model

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

AlphaFold

Q60596

Predicted Effect

probably null
Transcript: ENSMUST00000063249
AA Change: K618*

SMART Domains

Protein: ENSMUSP00000070995
Gene: ENSMUSG00000051768
AA Change: K618*

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

probably null
Transcript: ENSMUST00000205573
AA Change: K618*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205575

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205804

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206153

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206429

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206538

Coding Region Coverage

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	C	3: 121,473,251 (GRCm39)	R135S	unknown	Het
A1bg	T	C	15: 60,791,605 (GRCm39)	Y277C	probably damaging	Het
Abca12	A	T	1: 71,385,861 (GRCm39)	F252L	probably benign	Het
Abcd3	A	T	3: 121,575,640 (GRCm39)		probably benign	Het
Acvr2b	C	A	9: 119,260,350 (GRCm39)	F364L	possibly damaging	Het
Adamts12	T	C	15: 11,345,650 (GRCm39)	C1564R	probably damaging	Het
Agap3	A	G	5: 24,682,130 (GRCm39)	T392A	probably benign	Het
Ano1	A	G	7: 144,157,322 (GRCm39)	F767L	possibly damaging	Het
Atg10	C	A	13: 91,085,412 (GRCm39)	R179I	probably null	Het
Bsph1	A	T	7: 13,207,012 (GRCm39)	K129N	probably damaging	Het
Calml4	A	G	9: 62,782,765 (GRCm39)	D77G	probably benign	Het
Cc2d1a	T	A	8: 84,870,056 (GRCm39)	K153M	probably damaging	Het
Col4a2	G	A	8: 11,475,979 (GRCm39)	V672I	probably benign	Het
Crnkl1	T	C	2: 145,774,178 (GRCm39)	K95R	probably benign	Het
Crtap	T	C	9: 114,209,072 (GRCm39)	D324G	possibly damaging	Het
Csmd1	C	T	8: 16,138,231 (GRCm39)	G1607E	probably damaging	Het
Dcbld2	T	G	16: 58,272,051 (GRCm39)	I369R	probably benign	Het
Dmc1	T	A	15: 79,452,892 (GRCm39)	I246L	probably benign	Het
Dock1	G	T	7: 134,475,912 (GRCm39)	V896L	possibly damaging	Het
Eftud2	G	A	11: 102,761,009 (GRCm39)	T112M	probably damaging	Het
F5	A	T	1: 163,989,388 (GRCm39)	I97F	possibly damaging	Het
Fasn	C	T	11: 120,701,550 (GRCm39)	V1939M	possibly damaging	Het
Gpatch2l	T	C	12: 86,328,285 (GRCm39)	V414A	probably benign	Het
Gpd2	T	C	2: 57,228,855 (GRCm39)		probably benign	Het
Gria4	T	G	9: 4,432,876 (GRCm39)	N769T	probably damaging	Het
Gtf3c2	A	T	5: 31,314,964 (GRCm39)	F885I	probably damaging	Het
Ifi209	C	T	1: 173,468,800 (GRCm39)	T210I	possibly damaging	Het
Kmt2c	A	G	5: 25,520,359 (GRCm39)	V1917A	probably benign	Het
Mad1l1	G	A	5: 140,293,458 (GRCm39)	A120V	probably benign	Het
Mef2c	T	C	13: 83,810,494 (GRCm39)	I382T	probably damaging	Het
Ms4a14	A	T	19: 11,285,056 (GRCm39)	L171I	probably benign	Het
Myf6	T	A	10: 107,330,132 (GRCm39)	Q145L	probably damaging	Het
Myh3	G	A	11: 66,981,935 (GRCm39)		probably benign	Het
Nbas	A	G	12: 13,329,417 (GRCm39)	I121V	probably benign	Het
Ncoa2	A	T	1: 13,247,398 (GRCm39)	S342T	probably damaging	Het
Nlrp1b	C	T	11: 71,052,741 (GRCm39)	D896N	possibly damaging	Het
Prss41	A	G	17: 24,061,498 (GRCm39)	Y98H	probably benign	Het
Ptpn13	A	T	5: 103,665,425 (GRCm39)	T450S	probably benign	Het
Rab39	G	A	9: 53,597,861 (GRCm39)	R135C	probably damaging	Het
Radil	A	G	5: 142,481,097 (GRCm39)	V570A	probably damaging	Het
Sbno1	C	T	5: 124,526,668 (GRCm39)	R949Q	probably damaging	Het
Sec61a2	T	A	2: 5,887,689 (GRCm39)	K98*	probably null	Het
Serbp1	T	A	6: 67,258,807 (GRCm39)		probably null	Het
Serpinb3c	G	T	1: 107,199,457 (GRCm39)	Q355K	probably benign	Het
Slc34a3	T	G	2: 25,121,246 (GRCm39)	D307A	probably benign	Het
Smarcad1	T	A	6: 65,051,937 (GRCm39)	S357T	probably damaging	Het
Spag17	G	A	3: 99,918,075 (GRCm39)	D353N	possibly damaging	Het
Spdl1	T	A	11: 34,721,592 (GRCm39)	Q39L	possibly damaging	Het
Syne2	A	C	12: 76,104,264 (GRCm39)	Q5485P	probably damaging	Het
Synj1	C	A	16: 90,785,056 (GRCm39)	V227F	probably damaging	Het
Syt12	T	C	19: 4,506,882 (GRCm39)	T88A	probably benign	Het
Tasor	C	T	14: 27,183,136 (GRCm39)	Q532*	probably null	Het
Tlr12	A	G	4: 128,509,670 (GRCm39)	F860S	probably damaging	Het
Trdn	C	A	10: 33,274,410 (GRCm39)	S461*	probably null	Het
Trip4	G	A	9: 65,764,727 (GRCm39)	P413S	probably benign	Het
Wdr17	A	G	8: 55,149,302 (GRCm39)		probably null	Het
Wnt9a	T	C	11: 59,221,855 (GRCm39)	L251P	probably damaging	Het
Zfp759	T	C	13: 67,286,728 (GRCm39)	L93P	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
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
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

Posted On

2016-08-02