Mutagenetix > Incidental Mutation

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1875 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87267471-87295780 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87279469 bp (GRCm39)

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]

AlphaFold

Q924H5

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
Abca14	A	T	7: 119,847,190 (GRCm39)	M685L	possibly damaging	Het
Abi3bp	A	G	16: 56,394,862 (GRCm39)	Y190C	probably damaging	Het
Adam26a	C	A	8: 44,022,888 (GRCm39)	V201L	probably benign	Het
Adamts20	G	T	15: 94,229,277 (GRCm39)	D947E	probably benign	Het
Ankrd26	A	G	6: 118,517,410 (GRCm39)		probably null	Het
Apol11a	C	A	15: 77,397,766 (GRCm39)	T39N	possibly damaging	Het
Arhgef38	T	A	3: 132,839,501 (GRCm39)		probably null	Het
Armh4	T	C	14: 49,919,815 (GRCm39)	D772G	probably damaging	Het
Atp11b	T	C	3: 35,893,296 (GRCm39)	L883P	probably damaging	Het
Btnl10	T	A	11: 58,814,586 (GRCm39)	I422N	probably damaging	Het
C2cd3	A	G	7: 100,056,232 (GRCm39)	K547E	possibly damaging	Het
Cdh2	T	A	18: 16,757,934 (GRCm39)	L549F	probably benign	Het
Celsr3	T	C	9: 108,713,037 (GRCm39)	V1825A	probably benign	Het
Cfap221	T	C	1: 119,881,389 (GRCm39)	I358V	probably benign	Het
Cimap2	G	A	4: 106,470,453 (GRCm39)		probably benign	Het
Csmd1	T	C	8: 15,979,101 (GRCm39)	K2828E	probably damaging	Het
Ddah2	T	C	17: 35,279,821 (GRCm39)	F137S	probably damaging	Het
Ddx21	A	G	10: 62,429,847 (GRCm39)	I299T	probably damaging	Het
Dnah7a	A	T	1: 53,495,691 (GRCm39)		probably benign	Het
Elmod1	A	G	9: 53,843,151 (GRCm39)	I9T	probably benign	Het
Epha2	A	G	4: 141,036,290 (GRCm39)	E242G	probably benign	Het
Erbb3	T	C	10: 128,410,335 (GRCm39)	H641R	possibly damaging	Het
Fbxl18	G	A	5: 142,871,978 (GRCm39)	A419V	probably damaging	Het
Fli1	T	C	9: 32,335,209 (GRCm39)	M408V	probably benign	Het
Fmo4	T	C	1: 162,631,187 (GRCm39)	N260S	possibly damaging	Het
Fry	A	G	5: 150,249,597 (GRCm39)	E136G	probably damaging	Het
Gm10477	T	A	X: 55,570,127 (GRCm39)	F9Y	probably damaging	Het
Gm8258	A	G	5: 104,924,320 (GRCm39)		noncoding transcript	Het
Gpr68	T	A	12: 100,845,049 (GRCm39)	D165V	probably damaging	Het
Htt	T	A	5: 34,951,456 (GRCm39)	M139K	probably benign	Het
Jup	A	G	11: 100,263,120 (GRCm39)		probably null	Het
Kifc5b	G	A	17: 27,136,264 (GRCm39)		probably null	Het
Krba1	T	A	6: 48,390,983 (GRCm39)		probably null	Het
Lamp1	G	A	8: 13,217,257 (GRCm39)	G89R	probably damaging	Het
Lrrc17	C	T	5: 21,765,650 (GRCm39)	S44F	possibly damaging	Het
Mdga1	T	C	17: 30,071,581 (GRCm39)	T347A	probably damaging	Het
Mical3	A	T	6: 121,019,025 (GRCm39)	W66R	probably damaging	Het
Mpl	A	G	4: 118,314,026 (GRCm39)	Y73H	probably benign	Het
Mterf1b	T	A	5: 4,247,364 (GRCm39)	I335N	possibly damaging	Het
Mylk3	A	G	8: 86,079,494 (GRCm39)	I388T	probably damaging	Het
Myo15a	C	T	11: 60,398,354 (GRCm39)	R2775W	probably damaging	Het
Myoz2	A	T	3: 122,819,765 (GRCm39)	S65T	probably damaging	Het
Ndrg1	T	C	15: 66,802,940 (GRCm39)	T137A	possibly damaging	Het
Neil3	G	T	8: 54,052,454 (GRCm39)	N381K	probably damaging	Het
Obsl1	T	C	1: 75,474,877 (GRCm39)	Y841C	probably damaging	Het
Or2b4	A	G	17: 38,115,996 (GRCm39)		probably benign	Het
Or6b6	G	A	7: 106,571,389 (GRCm39)	S54F	possibly damaging	Het
Otogl	T	C	10: 107,735,451 (GRCm39)	D111G	probably damaging	Het
Parp10	T	C	15: 76,127,051 (GRCm39)	E103G	probably damaging	Het
Pars2	T	C	4: 106,510,913 (GRCm39)	F232L	possibly damaging	Het
Pcdh18	A	T	3: 49,709,154 (GRCm39)	F720L	probably damaging	Het
Phf3	T	C	1: 30,869,704 (GRCm39)	E448G	possibly damaging	Het
Pigc	A	G	1: 161,798,516 (GRCm39)	Y166C	probably damaging	Het
Pik3c2a	A	T	7: 116,017,206 (GRCm39)	S184T	probably benign	Het
Pkd1l1	A	G	11: 8,794,670 (GRCm39)		probably benign	Het
Plch2	G	A	4: 155,082,965 (GRCm39)	S485F	probably damaging	Het
Plxnd1	G	T	6: 115,955,045 (GRCm39)		probably null	Het
Pnliprp2	G	T	19: 58,751,821 (GRCm39)	V189L	probably benign	Het
Prl8a2	T	C	13: 27,535,037 (GRCm39)	V103A	probably benign	Het
Psg23	G	A	7: 18,344,375 (GRCm39)	T360I	probably benign	Het
Rsbn1l	C	T	5: 21,156,696 (GRCm39)	E30K	probably benign	Het
Serpina3c	C	A	12: 104,118,145 (GRCm39)	L64F	probably damaging	Het
Shroom1	A	G	11: 53,356,502 (GRCm39)	D392G	probably damaging	Het
Slc26a5	T	A	5: 22,020,725 (GRCm39)	I540L	probably benign	Het
Slc37a4	A	G	9: 44,312,808 (GRCm39)	T321A	probably damaging	Het
Slc41a2	A	G	10: 83,091,949 (GRCm39)	L438S	probably damaging	Het
Spef2	C	T	15: 9,584,194 (GRCm39)	E1624K	probably damaging	Het
Spef2	C	T	15: 9,597,487 (GRCm39)	G1390R	possibly damaging	Het
Spmap2l	A	T	5: 77,202,431 (GRCm39)	K284M	probably benign	Het
Synj2	G	T	17: 6,078,825 (GRCm39)	A740S	possibly damaging	Het
Tigd4	A	C	3: 84,502,394 (GRCm39)	D437A	probably benign	Het
Timm21	G	C	18: 84,967,387 (GRCm39)	L130V	probably damaging	Het
Tmem106a	CAGCTCAACACGACGGTA	CAGCTCAACACGACGGTAAGCTCAACACGACGGTA	11: 101,477,204 (GRCm39)		probably benign	Het
Tmem131l	A	T	3: 83,812,383 (GRCm39)	C1313*	probably null	Het
Tmem86b	A	T	7: 4,632,698 (GRCm39)	I47N	possibly damaging	Het
Tspan13	T	C	12: 36,070,550 (GRCm39)		probably null	Het
Vps54	A	G	11: 21,250,251 (GRCm39)	T396A	probably benign	Het
Zfp106	A	T	2: 120,344,096 (GRCm39)		probably null	Het
Zfp668	T	C	7: 127,465,654 (GRCm39)		probably null	Het
Zfp809	A	T	9: 22,150,027 (GRCm39)	R175*	probably null	Het

Other mutations in Rad51c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02457:Rad51c	APN	11	87,271,681 (GRCm39)	missense	possibly damaging	0.92
IGL03096:Rad51c	APN	11	87,279,472 (GRCm39)	missense	probably damaging	1.00
IGL03493:Rad51c	APN	11	87,288,579 (GRCm39)	missense	probably benign	0.00
R0415:Rad51c	UTSW	11	87,288,481 (GRCm39)	missense	probably damaging	0.99
R2098:Rad51c	UTSW	11	87,293,589 (GRCm39)	missense	probably benign
R4172:Rad51c	UTSW	11	87,293,572 (GRCm39)	missense	probably damaging	1.00
R4798:Rad51c	UTSW	11	87,286,204 (GRCm39)	missense	probably damaging	1.00
R5054:Rad51c	UTSW	11	87,288,580 (GRCm39)	missense	probably benign	0.06
R5182:Rad51c	UTSW	11	87,288,545 (GRCm39)	missense	possibly damaging	0.85
R5381:Rad51c	UTSW	11	87,288,459 (GRCm39)	missense	probably benign	0.00
R6087:Rad51c	UTSW	11	87,271,705 (GRCm39)	missense	probably benign	0.02
R7066:Rad51c	UTSW	11	87,293,502 (GRCm39)	missense	possibly damaging	0.56
R7714:Rad51c	UTSW	11	87,292,276 (GRCm39)	missense	probably benign	0.00
R8242:Rad51c	UTSW	11	87,280,712 (GRCm39)	missense	probably damaging	1.00
R9054:Rad51c	UTSW	11	87,293,542 (GRCm39)	missense	probably benign	0.01

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