Mutagenetix > Incidental Mutation

Incidental Mutation 'R7011:Xrcc3'

545039

Institutional Source

Beutler Lab

Gene Symbol

Xrcc3

Ensembl Gene

ENSMUSG00000021287

Gene Name

X-ray repair complementing defective repair in Chinese hamster cells 3

Synonyms

4432412E01Rik

MMRRC Submission

045112-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7011 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111769626-111780307 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111770969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 320 (V320A)

Ref Sequence

ENSEMBL: ENSMUSP00000021715 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021715] [ENSMUST00000084941] [ENSMUST00000122300] [ENSMUST00000127281] [ENSMUST00000134578]

AlphaFold

Q9CXE6

Predicted Effect

probably damaging
Transcript: ENSMUST00000021715
AA Change: V320A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000021715
Gene: ENSMUSG00000021287
AA Change: V320A

Domain	Start	End	E-Value	Type
Pfam:Rad51	64	343	1.2e-25	PFAM
Pfam:AAA_25	70	261	2e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000084941

SMART Domains

Protein: ENSMUSP00000082004
Gene: ENSMUSG00000021288

Domain	Start	End	E-Value	Type
coiled coil region	86	156	N/A	INTRINSIC
low complexity region	158	179	N/A	INTRINSIC
low complexity region	188	206	N/A	INTRINSIC
Pfam:TPR_10	212	253	3.1e-9	PFAM
TPR	255	288	3.81e-1	SMART
TPR	297	330	1.16e-5	SMART
TPR	339	372	4.77e-2	SMART
TPR	381	414	2.78e-3	SMART
TPR	464	497	4.93e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122300

SMART Domains

Protein: ENSMUSP00000113997
Gene: ENSMUSG00000021288

Domain	Start	End	E-Value	Type
Pfam:Rab5-bind	80	254	1e-68	PFAM
Pfam:TPR_10	212	253	8.4e-9	PFAM
TPR	255	288	3.81e-1	SMART
TPR	297	330	1.16e-5	SMART
TPR	339	372	4.77e-2	SMART
TPR	381	414	2.78e-3	SMART
TPR	464	497	2.99e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127281

SMART Domains

Protein: ENSMUSP00000118040
Gene: ENSMUSG00000021287

Domain	Start	End	E-Value	Type
Pfam:Rad51	64	193	4e-17	PFAM
Pfam:AAA_25	70	192	2.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134578

SMART Domains

Protein: ENSMUSP00000120491
Gene: ENSMUSG00000021288

Domain	Start	End	E-Value	Type
Pfam:TPR_1	1	25	1.9e-4	PFAM
Pfam:TPR_7	1	36	1.9e-4	PFAM
Pfam:TPR_10	75	112	7.8e-9	PFAM
Pfam:TPR_1	77	98	1.4e-4	PFAM
Pfam:TPR_7	78	129	1.7e-5	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (66/69)

MGI Phenotype

FUNCTION: This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene functionally complements Chinese hamster irs1SF, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents and is chromosomally unstable. Allelic variants in the human gene are associated with susceptibility to breast cancer and cutaneous malignant melanoma. [provided by RefSeq, Sep 2015]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	C	T	11: 46,033,845 (GRCm39)	P886S	probably benign	Het
Anapc1	C	T	2: 128,490,601 (GRCm39)		probably null	Het
Ankrd34c	C	A	9: 89,611,001 (GRCm39)	G447*	probably null	Het
Apbb1ip	A	T	2: 22,725,943 (GRCm39)	E238D	probably damaging	Het
Arfgap1	T	C	2: 180,613,935 (GRCm39)	L110P	probably damaging	Het
Arhgap21	G	A	2: 20,853,689 (GRCm39)	T1901I	possibly damaging	Het
Brpf1	C	A	6: 113,295,427 (GRCm39)	Q679K	probably benign	Het
Btnl2	A	G	17: 34,582,487 (GRCm39)	E351G	probably damaging	Het
Cd209f	T	A	8: 4,154,859 (GRCm39)	T80S	probably benign	Het
Cdc16	A	G	8: 13,819,451 (GRCm39)	E349G	probably damaging	Het
Cfap53	A	T	18: 74,462,564 (GRCm39)	D436V	probably benign	Het
Crhr2	A	T	6: 55,076,195 (GRCm39)		probably null	Het
Cux1	T	C	5: 136,388,887 (GRCm39)	K226E	probably damaging	Het
Ddr2	A	T	1: 169,809,672 (GRCm39)	D768E	probably damaging	Het
Dhx8	T	C	11: 101,632,346 (GRCm39)	L435P	probably damaging	Het
Dnah11	AGGCC	AGGCCGGCC	12: 117,885,753 (GRCm39)		probably null	Het
Eif4ebp1	G	A	8: 27,763,372 (GRCm39)	R55Q	probably damaging	Het
Fbh1	T	A	2: 11,767,774 (GRCm39)	D358V	probably damaging	Het
Fra10ac1	T	A	19: 38,177,242 (GRCm39)	E304D	probably benign	Het
Gabrb2	T	C	11: 42,517,488 (GRCm39)	S399P	possibly damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Gprin2	G	T	14: 33,917,393 (GRCm39)	H126N	probably null	Het
Gucy1a1	A	G	3: 82,016,422 (GRCm39)	S189P	probably damaging	Het
Htr1d	T	C	4: 136,170,317 (GRCm39)	M182T	probably benign	Het
Lipc	A	G	9: 70,726,236 (GRCm39)	F73L	probably benign	Het
Liph	A	G	16: 21,802,847 (GRCm39)	I74T	probably damaging	Het
Lrif1	T	G	3: 106,639,601 (GRCm39)	Y229D	probably damaging	Het
Magel2	C	T	7: 62,028,281 (GRCm39)	T395I	possibly damaging	Het
Magi3	T	C	3: 104,013,070 (GRCm39)	N139S	probably damaging	Het
Man2c1	T	A	9: 57,045,117 (GRCm39)	V336E	probably damaging	Het
Mapk12	A	T	15: 89,019,803 (GRCm39)	Y135N	probably damaging	Het
Mapkapk3	C	T	9: 107,166,595 (GRCm39)		probably benign	Het
Mast1	A	T	8: 85,638,574 (GRCm39)	Y653*	probably null	Het
Muc16	T	A	9: 18,548,839 (GRCm39)	H5818L	probably benign	Het
Muc16	T	A	9: 18,548,747 (GRCm39)	I5849F	probably benign	Het
Ndufa10	A	G	1: 92,398,581 (GRCm39)	S68P	probably damaging	Het
Nedd1	C	A	10: 92,526,635 (GRCm39)	L503F	probably benign	Het
Nr1i3	A	G	1: 171,041,927 (GRCm39)	M4V	probably benign	Het
Or12e9	G	A	2: 87,202,604 (GRCm39)	A243T	possibly damaging	Het
Or2av9	T	A	11: 58,380,970 (GRCm39)	I204F	possibly damaging	Het
Or4f14b	A	T	2: 111,775,031 (GRCm39)	F257I	probably benign	Het
Or9i2	T	C	19: 13,816,403 (GRCm39)	I45V	probably benign	Het
Pcdh18	A	T	3: 49,709,231 (GRCm39)	S695T	probably benign	Het
Pcdha1	T	C	18: 37,063,588 (GRCm39)	I84T	probably damaging	Het
Plek	T	A	11: 16,944,760 (GRCm39)	D90V	possibly damaging	Het
Ppp6r1	A	G	7: 4,649,825 (GRCm39)	C47R	probably damaging	Het
Psg27	G	C	7: 18,290,798 (GRCm39)	N468K	probably benign	Het
Ptchd4	G	A	17: 42,814,759 (GRCm39)	E887K	probably benign	Het
Rabgap1	C	T	2: 37,430,492 (GRCm39)	L678F	probably damaging	Het
Rmdn3	T	C	2: 118,968,904 (GRCm39)	Y429C	probably damaging	Het
Ros1	A	T	10: 52,056,272 (GRCm39)	C73S	probably damaging	Het
Rtkn2	G	A	10: 67,815,495 (GRCm39)		probably benign	Het
Slc25a42	A	G	8: 70,639,352 (GRCm39)	S242P	probably damaging	Het
Smtnl1	T	A	2: 84,648,753 (GRCm39)	D167V	probably benign	Het
Smurf2	A	G	11: 106,724,610 (GRCm39)	L511P	probably benign	Het
Stbd1	A	T	5: 92,752,977 (GRCm39)	K156*	probably null	Het
Tenm4	G	T	7: 96,545,342 (GRCm39)	G2453*	probably null	Het
Tent4a	C	T	13: 69,648,199 (GRCm39)	G489S	probably damaging	Het
Tpr	A	G	1: 150,309,523 (GRCm39)	K1760E	probably damaging	Het
Triobp	T	A	15: 78,862,923 (GRCm39)	L1427Q	probably damaging	Het
Uaca	A	G	9: 60,777,650 (GRCm39)	E679G	probably damaging	Het
Ucn3	T	G	13: 3,991,421 (GRCm39)	H77P	possibly damaging	Het
Wnk2	T	A	13: 49,224,567 (GRCm39)	D998V	probably damaging	Het
Zdbf2	A	G	1: 63,345,925 (GRCm39)	T1435A	possibly damaging	Het
Zfp36l2	G	T	17: 84,493,861 (GRCm39)	H259N	possibly damaging	Het
Zfp619	A	T	7: 39,187,186 (GRCm39)	H1072L	probably damaging	Het
Zfy2	T	A	Y: 2,107,127 (GRCm39)	E502D	possibly damaging	Het
Zfyve16	G	A	13: 92,658,495 (GRCm39)	P472L	probably benign	Het

Other mutations in Xrcc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0396:Xrcc3	UTSW	12	111,776,391 (GRCm39)	missense	probably benign	0.00
R4534:Xrcc3	UTSW	12	111,770,966 (GRCm39)	missense	probably damaging	0.99
R4535:Xrcc3	UTSW	12	111,770,966 (GRCm39)	missense	probably damaging	0.99
R5406:Xrcc3	UTSW	12	111,778,545 (GRCm39)	missense	probably damaging	0.99
R5762:Xrcc3	UTSW	12	111,771,044 (GRCm39)	missense	probably damaging	0.97
R5842:Xrcc3	UTSW	12	111,770,964 (GRCm39)	missense	possibly damaging	0.94
R5937:Xrcc3	UTSW	12	111,774,406 (GRCm39)	missense	probably null	0.51
R6985:Xrcc3	UTSW	12	111,778,530 (GRCm39)	missense	probably damaging	0.98
R7560:Xrcc3	UTSW	12	111,774,336 (GRCm39)	missense	probably benign	0.00
R8680:Xrcc3	UTSW	12	111,774,313 (GRCm39)	missense	probably damaging	0.99
R9310:Xrcc3	UTSW	12	111,771,485 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGATACTGACAGACTAACCGTC -3'
(R):5'- ACATGGTGGGCTGTACAAG -3'

Sequencing Primer
(F):5'- TGACAGACTAACCGTCACTGGG -3'
(R):5'- AGCACCAACACTCATTTTGTG -3'

Posted On

2019-05-13