Mutagenetix > Incidental Mutation

Incidental Mutation 'R9607:Xrcc1'

723935

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9607 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24246124-24272863 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24265690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 156 (D156G)

Ref Sequence

ENSEMBL: ENSMUSP00000070995 (fasta)

Gene Model

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

AlphaFold

Q60596

PDB Structure

X-ray crystal structure of the second XRCC1 BRCT domain. [X-RAY DIFFRACTION]
X-ray crystal structure of the heterodimeric complex of XRCC1 and DNA ligase III-alpha BRCT domains. [X-RAY DIFFRACTION]
XRCC1 bound to DNA ligase [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000063249
AA Change: D156G

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000070995
Gene: ENSMUSG00000051768
AA Change: D156G

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

probably benign
Transcript: ENSMUST00000205573
AA Change: D156G

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,914,068 (GRCm39)		probably null	Het
Atp8a1	T	C	5: 67,817,250 (GRCm39)	Y927C		Het
Bckdhb	A	G	9: 83,871,344 (GRCm39)	I208V	probably benign	Het
Cacna1g	T	C	11: 94,356,714 (GRCm39)	I141V	probably benign	Het
Celsr1	A	G	15: 85,915,229 (GRCm39)	S915P		Het
Celsr3	G	A	9: 108,717,701 (GRCm39)		probably null	Het
Cep295	A	T	9: 15,234,009 (GRCm39)	D2262E	probably damaging	Het
Chil3	T	C	3: 106,067,685 (GRCm39)	K160R	probably null	Het
Cmtr1	G	T	17: 29,893,196 (GRCm39)	A72S	probably benign	Het
Cpa5	T	C	6: 30,626,338 (GRCm39)	F233S	probably damaging	Het
Creb3l3	G	A	10: 80,920,735 (GRCm39)	R432W	probably damaging	Het
Csdc2	A	G	15: 81,831,088 (GRCm39)	D45G	possibly damaging	Het
Csmd3	G	T	15: 47,618,811 (GRCm39)	T1859K	probably damaging	Het
Cxxc1	T	C	18: 74,353,479 (GRCm39)		probably null	Het
Dcc	A	G	18: 71,721,072 (GRCm39)	S430P	probably damaging	Het
Dera	T	G	6: 137,833,732 (GRCm39)	S270A	unknown	Het
Dnaaf1	A	G	8: 120,309,350 (GRCm39)	E146G	possibly damaging	Het
Dsg4	A	T	18: 20,586,047 (GRCm39)	T246S	probably benign	Het
Eif4g3	A	G	4: 137,893,045 (GRCm39)	E766G	probably benign	Het
Ep400	A	C	5: 110,831,805 (GRCm39)	C2146G	unknown	Het
Epas1	A	T	17: 87,134,038 (GRCm39)	T516S	probably benign	Het
Espn	A	G	4: 152,219,939 (GRCm39)	S395P	probably benign	Het
Fam124b	T	A	1: 80,190,813 (GRCm39)	Q190L	probably damaging	Het
Filip1	T	A	9: 79,726,402 (GRCm39)	D739V	probably damaging	Het
Flg2	A	G	3: 93,108,719 (GRCm39)	Y249C	probably damaging	Het
Gon4l	T	A	3: 88,765,751 (GRCm39)	S391T	probably damaging	Het
Hoxa5	G	T	6: 52,181,196 (GRCm39)	Y45*	probably null	Het
Ift172	A	G	5: 31,410,913 (GRCm39)	F1715S		Het
Klhdc9	T	A	1: 171,187,124 (GRCm39)	H262L	probably damaging	Het
Krt16	C	A	11: 100,138,453 (GRCm39)	D232Y	probably damaging	Het
Lrrd1	A	G	5: 3,901,561 (GRCm39)	E622G	probably damaging	Het
Mars1	A	T	10: 127,144,493 (GRCm39)	C182*	probably null	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Msrb2	C	A	2: 19,399,130 (GRCm39)	N164K	probably damaging	Het
Mtcl2	T	G	2: 156,869,488 (GRCm39)	E1049A	probably damaging	Het
Muc2	T	A	7: 141,305,190 (GRCm39)	C604S		Het
Mup17	T	C	4: 61,511,903 (GRCm39)	I124V	probably benign	Het
Myo18b	T	C	5: 113,022,544 (GRCm39)	M283V	unknown	Het
Ndn	C	T	7: 61,998,337 (GRCm39)	P61L	possibly damaging	Het
Nepro	T	C	16: 44,551,832 (GRCm39)	L230P	probably damaging	Het
Nes	A	G	3: 87,883,513 (GRCm39)	N591D	probably benign	Het
Nfrkb	T	C	9: 31,326,066 (GRCm39)	S1170P	possibly damaging	Het
Nphs1	A	T	7: 30,163,012 (GRCm39)	T430S	probably damaging	Het
Nrp1	T	C	8: 129,152,262 (GRCm39)	V157A	probably benign	Het
Nup188	T	A	2: 30,197,724 (GRCm39)	D259E	probably benign	Het
Or52n5	T	C	7: 104,588,207 (GRCm39)	M158T	probably benign	Het
Or5b109	A	T	19: 13,211,953 (GRCm39)	N113I		Het
Or8b1c	A	G	9: 38,384,913 (GRCm39)	Y290C	probably damaging	Het
Or9s18	G	T	13: 65,300,885 (GRCm39)	M282I	probably benign	Het
Pcdha8	T	A	18: 37,126,217 (GRCm39)	L233Q	probably damaging	Het
Pcdhga12	T	A	18: 37,901,389 (GRCm39)	F740L	probably damaging	Het
Pglyrp4	G	A	3: 90,638,151 (GRCm39)	G155D	probably damaging	Het
Piezo2	G	A	18: 63,519,347 (GRCm39)		probably benign	Het
Pirb	G	A	7: 3,720,617 (GRCm39)	R294C	possibly damaging	Het
Ppil1	A	T	17: 29,470,481 (GRCm39)	*167K	probably null	Het
Prdm10	G	T	9: 31,260,486 (GRCm39)	D647Y	probably damaging	Het
Prkn	A	G	17: 12,222,963 (GRCm39)	Y371C	probably damaging	Het
Prrc2b	T	A	2: 32,098,794 (GRCm39)	I702N	probably damaging	Het
Rnf26rt	A	T	6: 76,473,923 (GRCm39)	L231*	probably null	Het
Rtp4	T	A	16: 23,339,226 (GRCm39)		probably null	Het
Sema6c	A	G	3: 95,076,545 (GRCm39)	H277R	probably benign	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc41a2	A	G	10: 83,119,631 (GRCm39)	L377P	probably damaging	Het
Svil	T	C	18: 5,058,126 (GRCm39)	Y630H	possibly damaging	Het
Tbata	A	G	10: 61,011,626 (GRCm39)	H54R	probably benign	Het
Tnfaip2	C	A	12: 111,412,069 (GRCm39)	Q157K	possibly damaging	Het
Trappc14	T	C	5: 138,259,862 (GRCm39)	D398G	probably damaging	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Vmn2r74	T	A	7: 85,610,619 (GRCm39)	R24S	probably benign	Het
Vmn2r90	G	A	17: 17,953,638 (GRCm39)	V601M	possibly damaging	Het
Vmn2r-ps117	A	G	17: 19,043,940 (GRCm39)	T339A	probably benign	Het
Xirp2	C	T	2: 67,341,106 (GRCm39)	H1116Y	possibly 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
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
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'- CTGACTTTGGTCCACAGTTAGG -3'
(R):5'- AGTTGGCACTGTCATCCTCC -3'

Sequencing Primer
(F):5'- CAGTGAGGTTTAATGTCAGCATCACC -3'
(R):5'- CTCTTTCACACGAAACTGGCCG -3'

Posted On

2022-09-12