Mutagenetix > Incidental Mutation

Incidental Mutation 'R1863:Xrcc1'

204112

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

039886-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1863 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24246124-24272863 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24270000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 474 (S474P)

Ref Sequence

ENSEMBL: ENSMUSP00000146105 (fasta)

Gene Model

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

AlphaFold

Q60596

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063249
AA Change: S474P

PolyPhen 2 Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000070995
Gene: ENSMUSG00000051768
AA Change: S474P

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

possibly damaging
Transcript: ENSMUST00000205573
AA Change: S474P

PolyPhen 2 Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)

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: ENSMUST00000206538

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206429

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.0%
20x: 90.8%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,527,746 (GRCm39)	S1015T	probably damaging	Het
Adamts10	T	A	17: 33,770,406 (GRCm39)		probably null	Het
Adgrv1	G	A	13: 81,711,685 (GRCm39)	T1097I	probably damaging	Het
Apeh	T	C	9: 107,969,302 (GRCm39)	Y274C	possibly damaging	Het
Apobec3	A	G	15: 79,782,068 (GRCm39)	D26G	possibly damaging	Het
Arg2	C	T	12: 79,196,794 (GRCm39)	Q172*	probably null	Het
Asb18	C	T	1: 89,942,104 (GRCm39)	V66I	probably benign	Het
Cacna1i	G	A	15: 80,243,132 (GRCm39)	G430S	probably damaging	Het
Cadps	A	G	14: 12,449,802 (GRCm38)	S1136P	possibly damaging	Het
Cadps	A	G	14: 12,505,796 (GRCm38)	V758A	probably benign	Het
Calhm3	A	G	19: 47,140,539 (GRCm39)	W185R	probably damaging	Het
Car5b	T	C	X: 162,774,369 (GRCm39)	D146G	probably damaging	Het
Card10	G	A	15: 78,664,714 (GRCm39)	R747W	probably damaging	Het
Cd300lg	T	G	11: 101,932,430 (GRCm39)	V5G	probably damaging	Het
Cd46	C	A	1: 194,765,931 (GRCm39)	G145C	probably damaging	Het
Chit1	T	C	1: 134,078,988 (GRCm39)	S433P	probably damaging	Het
Cntrl	G	A	2: 35,008,131 (GRCm39)	E182K	possibly damaging	Het
Col6a5	T	A	9: 105,817,400 (GRCm39)	M304L	unknown	Het
Cplane1	A	G	15: 8,258,077 (GRCm39)	I2108V	probably benign	Het
Cpxm2	C	T	7: 131,745,392 (GRCm39)		probably null	Het
Dbf4	G	A	5: 8,447,375 (GRCm39)	Q612*	probably null	Het
Dnah11	G	C	12: 118,027,587 (GRCm39)	Q1835E	possibly damaging	Het
Ehbp1l1	A	T	19: 5,767,882 (GRCm39)	N1140K	probably benign	Het
Eps8l1	C	A	7: 4,468,359 (GRCm39)		probably benign	Het
Fbxl21	A	T	13: 56,674,876 (GRCm39)	I76L	probably benign	Het
Gcnt2	A	T	13: 41,014,577 (GRCm39)	K249N	possibly damaging	Het
Gm5819	A	G	18: 8,694,179 (GRCm39)	T35A	probably benign	Het
Gm8180	T	C	14: 44,021,139 (GRCm39)	E23G	probably benign	Het
Gorab	A	G	1: 163,231,131 (GRCm39)	F8L	probably damaging	Het
Hlf	A	G	11: 90,231,652 (GRCm39)	L274S	probably damaging	Het
Il15ra	T	A	2: 11,728,247 (GRCm39)	S137T	possibly damaging	Het
Krt78	A	T	15: 101,855,004 (GRCm39)	C936S	possibly damaging	Het
Lamb2	T	C	9: 108,358,583 (GRCm39)	S207P	probably benign	Het
Lce1a1	T	C	3: 92,554,118 (GRCm39)	S119G	unknown	Het
Lipo3	A	G	19: 33,762,092 (GRCm39)	F135S	probably damaging	Het
Lrp4	T	A	2: 91,328,708 (GRCm39)	L1536Q	probably benign	Het
Lrrc25	T	C	8: 71,070,596 (GRCm39)	S126P	possibly damaging	Het
Mbd3l2	T	C	9: 18,356,217 (GRCm39)	S181P	possibly damaging	Het
Msantd5f6	A	T	4: 73,320,037 (GRCm39)	Y247*	probably null	Het
Mss51	C	T	14: 20,534,936 (GRCm39)	R278H	probably damaging	Het
Myom3	G	A	4: 135,505,348 (GRCm39)	M412I	probably benign	Het
Naa25	T	C	5: 121,573,611 (GRCm39)	V780A	probably benign	Het
Naip6	A	T	13: 100,437,067 (GRCm39)	F485L	probably benign	Het
Notch1	T	C	2: 26,359,962 (GRCm39)	Y1251C	probably damaging	Het
Npas3	A	G	12: 54,115,609 (GRCm39)	N826D	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or2t47	T	C	11: 58,442,849 (GRCm39)	Y72C	probably benign	Het
Or4a74	A	T	2: 89,440,053 (GRCm39)	L131*	probably null	Het
Or4c35	A	T	2: 89,808,754 (GRCm39)	I211F	probably benign	Het
Or5p57	A	C	7: 107,665,932 (GRCm39)	Y24*	probably null	Het
Or6c66	T	C	10: 129,461,217 (GRCm39)	T238A	probably damaging	Het
Or8c8	T	G	9: 38,165,016 (GRCm39)	M101R	probably damaging	Het
Or8s16	G	T	15: 98,211,372 (GRCm39)	Q20K	probably benign	Het
Osbpl6	G	A	2: 76,415,402 (GRCm39)	R588H	probably damaging	Het
Pcdhb17	A	T	18: 37,619,164 (GRCm39)	D318V	probably benign	Het
Pcnx2	T	A	8: 126,545,525 (GRCm39)	E1162V	probably damaging	Het
Pde2a	G	A	7: 101,160,361 (GRCm39)	R845H	probably damaging	Het
Pkhd1	G	T	1: 20,621,244 (GRCm39)	R805S	probably benign	Het
Ppl	T	C	16: 4,905,844 (GRCm39)	K1484E	possibly damaging	Het
Pramel7	T	C	2: 87,321,675 (GRCm39)	E120G	probably benign	Het
Prg4	T	A	1: 150,336,420 (GRCm39)	D60V	probably damaging	Het
Prpf6	T	A	2: 181,249,967 (GRCm39)	D42E	possibly damaging	Het
Rbm5	C	T	9: 107,627,718 (GRCm39)	V408I	possibly damaging	Het
Rsrp1	G	T	4: 134,651,388 (GRCm39)	D51Y	unknown	Het
Sec22a	A	G	16: 35,168,088 (GRCm39)	M141T	probably damaging	Het
Spryd3	A	G	15: 102,026,094 (GRCm39)	S417P	probably benign	Het
Sptbn2	A	G	19: 4,782,713 (GRCm39)	M550V	possibly damaging	Het
Sugt1	C	T	14: 79,846,434 (GRCm39)	T157I	probably damaging	Het
Syne4	T	C	7: 30,016,308 (GRCm39)	V168A	probably benign	Het
Tas2r122	A	T	6: 132,688,065 (GRCm39)	L276*	probably null	Het
Tbc1d14	G	A	5: 36,665,037 (GRCm39)	S231F	probably damaging	Het
Tenm3	T	A	8: 48,729,381 (GRCm39)	I1526F	probably benign	Het
Tgm2	C	T	2: 157,966,139 (GRCm39)	C505Y	probably damaging	Het
Thop1	T	C	10: 80,909,151 (GRCm39)	Y61H	probably damaging	Het
Ticam1	G	A	17: 56,578,436 (GRCm39)	H220Y	probably damaging	Het
Tle6	T	C	10: 81,427,755 (GRCm39)	D500G	possibly damaging	Het
Tm6sf2	T	A	8: 70,532,375 (GRCm39)	L345Q	probably damaging	Het
Tnxb	T	C	17: 34,889,848 (GRCm39)	C114R	probably damaging	Het
Topors	G	T	4: 40,262,149 (GRCm39)	C378*	probably null	Het
Ttc6	G	A	12: 57,760,881 (GRCm39)	G1544R	probably benign	Het
Vmn2r4	A	T	3: 64,314,410 (GRCm39)	N190K	probably benign	Het
Wdr70	C	A	15: 7,950,054 (GRCm39)	V447F	probably benign	Het
Xpa	A	G	4: 46,155,730 (GRCm39)		probably benign	Het
Zfp658	T	G	7: 43,223,323 (GRCm39)	F533V	possibly damaging	Het
Zfp799	G	A	17: 33,038,374 (GRCm39)	H631Y	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
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'- CCAGGTCTGCTGAATACCTC -3'
(R):5'- TCTAGTTTTCAGGGTACACAGTGG -3'

Sequencing Primer
(F):5'- TGAATACCTCAGCTTCCTGC -3'
(R):5'- TACACAGTGGCCCCTCC -3'

Posted On

2014-06-23