Mutagenetix > Incidental Mutations

Incidental Mutation 'R1875:Rad51c'

211168

Institutional Source

Beutler Lab

Gene Symbol

Rad51c

Ensembl Gene

ENSMUSG00000007646

Gene Name

RAD51 paralog C

Synonyms

Rad51l2

MMRRC Submission

039897-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1875 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87376645-87404954 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87388643 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 323 (I323N)

Ref Sequence

ENSEMBL: ENSMUSP00000007790 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007790] [ENSMUST00000067692] [ENSMUST00000129400] [ENSMUST00000153073]

Predicted Effect

probably damaging
Transcript: ENSMUST00000007790
AA Change: I323N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000007790
Gene: ENSMUSG00000007646
AA Change: I323N

Domain	Start	End	E-Value	Type
low complexity region	10	26	N/A	INTRINSIC
Pfam:Rad51	91	359	1.7e-32	PFAM
Pfam:AAA_25	97	298	1e-9	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067692
AA Change: I305N

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000064079
Gene: ENSMUSG00000007646
AA Change: I305N

Domain	Start	End	E-Value	Type
Pfam:Rad51	73	341	1.9e-32	PFAM
Pfam:AAA_25	79	280	7.6e-10	PFAM
Pfam:KaiC	91	137	2e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129400

SMART Domains

Protein: ENSMUSP00000121928
Gene: ENSMUSG00000007646

Domain	Start	End	E-Value	Type
PDB:1PZN\|G	10	125	2e-9	PDB
SCOP:d1g8ya_	91	125	9e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000153073
AA Change: I305N

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122811
Gene: ENSMUSG00000007646
AA Change: I305N

Domain	Start	End	E-Value	Type
Pfam:Rad51	73	315	3.2e-28	PFAM
Pfam:AAA_25	79	280	2.1e-10	PFAM
Pfam:KaiC	91	137	1.7e-8	PFAM

Meta Mutation Damage Score

0.7635

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.1%

Validation Efficiency

98% (85/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the RAD51 family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51 and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with other RAD51 paralogs and is reported to be important for Holliday junction resolution. Mutations in this gene are associated with Fanconi anemia-like syndrome. This gene is one of four localized to a region of chromosome 17q23 where amplification occurs frequently in breast tumors. Overexpression of the four genes during amplification has been observed and suggests a possible role in tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality. Mice carrying a null and a hypomorphic allele have partial penetrance of male and female infertility due to defects in meiosis. [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
3632451O06Rik	T	C	14: 49,682,358	D772G	probably damaging	Het
Abca14	A	T	7: 120,247,967	M685L	possibly damaging	Het
Abi3bp	A	G	16: 56,574,499	Y190C	probably damaging	Het
Adam26a	C	A	8: 43,569,851	V201L	probably benign	Het
Adamts20	G	T	15: 94,331,396	D947E	probably benign	Het
Ankrd26	A	G	6: 118,540,449		probably null	Het
Apol11a	C	A	15: 77,513,566	T39N	possibly damaging	Het
Arhgef38	T	A	3: 133,133,740		probably null	Het
Atp11b	T	C	3: 35,839,147	L883P	probably damaging	Het
Btnl10	T	A	11: 58,923,760	I422N	probably damaging	Het
C2cd3	A	G	7: 100,407,025	K547E	possibly damaging	Het
Cdh2	T	A	18: 16,624,877	L549F	probably benign	Het
Celsr3	T	C	9: 108,835,838	V1825A	probably benign	Het
Cfap221	T	C	1: 119,953,659	I358V	probably benign	Het
Csmd1	T	C	8: 15,929,101	K2828E	probably damaging	Het
Ddah2	T	C	17: 35,060,845	F137S	probably damaging	Het
Ddx21	A	G	10: 62,594,068	I299T	probably damaging	Het
Dnah7a	A	T	1: 53,456,532		probably benign	Het
Elmod1	A	G	9: 53,935,867	I9T	probably benign	Het
Epha2	A	G	4: 141,308,979	E242G	probably benign	Het
Erbb3	T	C	10: 128,574,466	H641R	possibly damaging	Het
Fbxl18	G	A	5: 142,886,223	A419V	probably damaging	Het
Fli1	T	C	9: 32,423,913	M408V	probably benign	Het
Fmo4	T	C	1: 162,803,618	N260S	possibly damaging	Het
Fry	A	G	5: 150,326,132	E136G	probably damaging	Het
Gm10477	T	A	X: 56,524,767	F9Y	probably damaging	Het
Gm8258	A	G	5: 104,776,454		noncoding transcript	Het
Gpr68	T	A	12: 100,878,790	D165V	probably damaging	Het
Htt	T	A	5: 34,794,112	M139K	probably benign	Het
Jup	A	G	11: 100,372,294		probably null	Het
Kifc5b	G	A	17: 26,917,290		probably null	Het
Krba1	T	A	6: 48,414,049		probably null	Het
Lamp1	G	A	8: 13,167,257	G89R	probably damaging	Het
Lexm	G	A	4: 106,613,256		probably benign	Het
Lrrc17	C	T	5: 21,560,652	S44F	possibly damaging	Het
Mdga1	T	C	17: 29,852,607	T347A	probably damaging	Het
Mical3	A	T	6: 121,042,064	W66R	probably damaging	Het
Mpl	A	G	4: 118,456,829	Y73H	probably benign	Het
Mterf1b	T	A	5: 4,197,364	I335N	possibly damaging	Het
Mylk3	A	G	8: 85,352,865	I388T	probably damaging	Het
Myo15	C	T	11: 60,507,528	R2775W	probably damaging	Het
Myoz2	A	T	3: 123,026,116	S65T	probably damaging	Het
Ndrg1	T	C	15: 66,931,091	T137A	possibly damaging	Het
Neil3	G	T	8: 53,599,419	N381K	probably damaging	Het
Obsl1	T	C	1: 75,498,233	Y841C	probably damaging	Het
Olfr124	A	G	17: 37,805,105		probably benign	Het
Olfr711	G	A	7: 106,972,182	S54F	possibly damaging	Het
Otogl	T	C	10: 107,899,590	D111G	probably damaging	Het
Parp10	T	C	15: 76,242,851	E103G	probably damaging	Het
Pars2	T	C	4: 106,653,716	F232L	possibly damaging	Het
Pcdh18	A	T	3: 49,754,705	F720L	probably damaging	Het
Phf3	T	C	1: 30,830,623	E448G	possibly damaging	Het
Pigc	A	G	1: 161,970,947	Y166C	probably damaging	Het
Pik3c2a	A	T	7: 116,417,971	S184T	probably benign	Het
Pkd1l1	A	G	11: 8,844,670		probably benign	Het
Plch2	G	A	4: 154,998,508	S485F	probably damaging	Het
Plxnd1	G	T	6: 115,978,084		probably null	Het
Pnliprp2	G	T	19: 58,763,389	V189L	probably benign	Het
Prl8a2	T	C	13: 27,351,054	V103A	probably benign	Het
Psg23	G	A	7: 18,610,450	T360I	probably benign	Het
Rsbn1l	C	T	5: 20,951,698	E30K	probably benign	Het
Serpina3c	C	A	12: 104,151,886	L64F	probably damaging	Het
Shroom1	A	G	11: 53,465,675	D392G	probably damaging	Het
Slc26a5	T	A	5: 21,815,727	I540L	probably benign	Het
Slc37a4	A	G	9: 44,401,511	T321A	probably damaging	Het
Slc41a2	A	G	10: 83,256,085	L438S	probably damaging	Het
Spef2	C	T	15: 9,584,108	E1624K	probably damaging	Het
Spef2	C	T	15: 9,597,401	G1390R	possibly damaging	Het
Synj2	G	T	17: 6,028,550	A740S	possibly damaging	Het
Thegl	A	T	5: 77,054,584	K284M	probably benign	Het
Tigd4	A	C	3: 84,595,087	D437A	probably benign	Het
Timm21	G	C	18: 84,949,262	L130V	probably damaging	Het
Tmem106a	CAGCTCAACACGACGGTA	CAGCTCAACACGACGGTAAGCTCAACACGACGGTA	11: 101,586,378		probably benign	Het
Tmem131l	A	T	3: 83,905,076	C1313*	probably null	Het
Tmem86b	A	T	7: 4,629,699	I47N	possibly damaging	Het
Tspan13	T	C	12: 36,020,551		probably null	Het
Vps54	A	G	11: 21,300,251	T396A	probably benign	Het
Zfp106	A	T	2: 120,513,615		probably null	Het
Zfp668	T	C	7: 127,866,482		probably null	Het
Zfp809	A	T	9: 22,238,731	R175*	probably null	Het

Other mutations in Rad51c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02457:Rad51c	APN	11	87380855	missense	possibly damaging	0.92
IGL03096:Rad51c	APN	11	87388646	missense	probably damaging	1.00
IGL03493:Rad51c	APN	11	87397753	missense	probably benign	0.00
R0415:Rad51c	UTSW	11	87397655	missense	probably damaging	0.99
R2098:Rad51c	UTSW	11	87402763	missense	probably benign
R4172:Rad51c	UTSW	11	87402746	missense	probably damaging	1.00
R4798:Rad51c	UTSW	11	87395378	missense	probably damaging	1.00
R5054:Rad51c	UTSW	11	87397754	missense	probably benign	0.06
R5182:Rad51c	UTSW	11	87397719	missense	possibly damaging	0.85
R5381:Rad51c	UTSW	11	87397633	missense	probably benign	0.00
R6087:Rad51c	UTSW	11	87380879	missense	probably benign	0.02
R7066:Rad51c	UTSW	11	87402676	missense	possibly damaging	0.56
R7714:Rad51c	UTSW	11	87401450	missense	probably benign	0.00
R8242:Rad51c	UTSW	11	87389886	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTAACCGATGTCAAACAAGGC -3'
(R):5'- GGCTGCGTGATGAAATCTGC -3'

Sequencing Primer
(F):5'- CAACAACAGAAGTGGTTTATGGGTC -3'
(R):5'- CCAGACATTCTAAGCAACGT -3'

Posted On

2014-06-30