Mutagenetix > Incidental Mutation

Incidental Mutation 'R9346:Rad51'

707786

Institutional Source

Beutler Lab

Gene Symbol

Rad51

Ensembl Gene

ENSMUSG00000027323

Gene Name

RAD51 recombinase

Synonyms

Rad51a, Reca

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9346 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118943295-118966554 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 118949093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 31 (C31Y)

Ref Sequence

ENSEMBL: ENSMUSP00000028795 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028795] [ENSMUST00000140939] [ENSMUST00000152327]

AlphaFold

Q08297

Predicted Effect

probably benign
Transcript: ENSMUST00000028795
AA Change: C31Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028795
Gene: ENSMUSG00000027323
AA Change: C31Y

Domain	Start	End	E-Value	Type
HhH1	58	77	1.08e0	SMART
AAA	119	306	8.27e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000140939
AA Change: C31Y

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000119444
Gene: ENSMUSG00000027323
AA Change: C31Y

Domain	Start	End	E-Value	Type
HhH1	58	77	2.52e-1	SMART
low complexity region	94	111	N/A	INTRINSIC
Pfam:Rad51	126	178	9e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152327
AA Change: C31Y

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000119101
Gene: ENSMUSG00000027323
AA Change: C31Y

Domain	Start	End	E-Value	Type
HhH1	58	77	1.08e0	SMART
Pfam:Rad51	83	218	2.6e-71	PFAM

Meta Mutation Damage Score

0.1704

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (45/45)

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 a member of the RAD51 protein 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 the ssDNA-binding protein RPA and RAD52, and it is thought to play roles in homologous pairing and strand transfer of DNA. This protein is also found to interact with BRCA1 and BRCA2, which may be important for the cellular response to DNA damage. BRCA2 is shown to regulate both the intracellular localization and DNA-binding ability of this protein. Loss of these controls following BRCA2 inactivation may be a key event leading to genomic instability and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
PHENOTYPE: Homozygotes for targeted null mutations die prior to implantation, usually by the eight-cell stage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	G	T	11: 58,179,095 (GRCm39)	C143F		Het
Adam8	T	C	7: 139,567,634 (GRCm39)	I370V	probably benign	Het
Adamts1	T	A	16: 85,599,420 (GRCm39)	D60V	possibly damaging	Het
Adh5	G	A	3: 138,157,203 (GRCm39)	V255I	probably benign	Het
Aipl1	C	T	11: 71,928,253 (GRCm39)	G11D	probably damaging	Het
Arid2	T	C	15: 96,185,792 (GRCm39)	I37T	probably benign	Het
Arnt2	C	T	7: 83,931,321 (GRCm39)	R383Q	probably benign	Het
Arrb1	T	A	7: 99,242,207 (GRCm39)	Y238*	probably null	Het
Brdt	T	C	5: 107,524,880 (GRCm39)	I807T	probably damaging	Het
Cacna1d	T	A	14: 29,818,880 (GRCm39)	Q1247L	possibly damaging	Het
Carmil3	T	C	14: 55,732,141 (GRCm39)	Y213H	probably damaging	Het
Ccdc180	A	T	4: 45,927,953 (GRCm39)	T1163S	probably benign	Het
Cfl1	T	A	19: 5,543,641 (GRCm39)	L206Q	probably benign	Het
Chga	A	G	12: 102,525,548 (GRCm39)	D63G	probably damaging	Het
Dennd1a	T	C	2: 37,911,447 (GRCm39)	D180G	probably benign	Het
Dop1b	T	C	16: 93,577,702 (GRCm39)		probably null	Het
Fam171a2	C	T	11: 102,328,771 (GRCm39)	V663M	possibly damaging	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Gimap9	C	A	6: 48,654,492 (GRCm39)	N26K	probably damaging	Het
Gtf2i	A	G	5: 134,273,663 (GRCm39)	F769L	probably damaging	Het
Gtf2i	G	T	5: 134,315,781 (GRCm39)	H164N	probably benign	Het
Ino80	G	A	2: 119,257,439 (GRCm39)	T797I	possibly damaging	Het
Kcnma1	T	C	14: 23,700,233 (GRCm39)	S188G	possibly damaging	Het
Krt82	A	G	15: 101,458,959 (GRCm39)	M27T	probably benign	Het
Ncam2	A	G	16: 81,252,204 (GRCm39)	K216E	probably benign	Het
Nynrin	A	G	14: 56,100,495 (GRCm39)	Q95R	probably benign	Het
Or1e1c	T	C	11: 73,266,129 (GRCm39)	S188P	probably benign	Het
Or4c102	T	A	2: 88,423,062 (GRCm39)	S305T	probably benign	Het
Pon1	C	A	6: 5,193,722 (GRCm39)	V10L	probably benign	Het
Ptk2b	T	A	14: 66,415,541 (GRCm39)	N252Y	possibly damaging	Het
Sbf2	A	G	7: 109,919,946 (GRCm39)	F1525L	probably benign	Het
Sec11a	T	C	7: 80,557,760 (GRCm39)	D173G	unknown	Het
Sftpd	C	T	14: 40,896,466 (GRCm39)	R239H	probably benign	Het
Shq1	T	A	6: 100,641,431 (GRCm39)	Y150F	probably damaging	Het
Slc39a11	A	G	11: 113,414,449 (GRCm39)	V50A	probably damaging	Het
Snrnp25	A	T	11: 32,155,622 (GRCm39)	M1L	probably benign	Het
Tgm6	A	T	2: 129,983,776 (GRCm39)	K312*	probably null	Het
Tln1	C	A	4: 43,546,895 (GRCm39)	R827L	probably damaging	Het
Trim37	A	T	11: 87,057,426 (GRCm39)		probably null	Het
Zdhhc13	T	A	7: 48,472,328 (GRCm39)	N495K	probably benign	Het
Zfp280b	C	T	10: 75,875,126 (GRCm39)	T335I	possibly damaging	Het
Zfp583	T	A	7: 6,328,542 (GRCm39)	T16S	probably benign	Het
Zgpat	C	A	2: 181,021,844 (GRCm39)	D423E	probably benign	Het

Other mutations in Rad51

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01659:Rad51	APN	2	118,949,183 (GRCm39)	missense	probably benign	0.44
IGL03028:Rad51	APN	2	118,946,795 (GRCm39)	start codon destroyed	possibly damaging	0.90
R0015:Rad51	UTSW	2	118,946,808 (GRCm39)	missense	probably benign	0.18
R0015:Rad51	UTSW	2	118,946,808 (GRCm39)	missense	probably benign	0.18
R1723:Rad51	UTSW	2	118,954,295 (GRCm39)	missense	probably benign	0.04
R2843:Rad51	UTSW	2	118,949,114 (GRCm39)	missense	probably benign	0.43
R3403:Rad51	UTSW	2	118,951,025 (GRCm39)	intron	probably benign
R4454:Rad51	UTSW	2	118,962,049 (GRCm39)	missense	probably damaging	1.00
R4672:Rad51	UTSW	2	118,954,327 (GRCm39)	missense	probably benign	0.22
R4878:Rad51	UTSW	2	118,950,973 (GRCm39)	intron	probably benign
R4945:Rad51	UTSW	2	118,957,629 (GRCm39)	missense	probably damaging	0.99
R5575:Rad51	UTSW	2	118,964,914 (GRCm39)	missense	probably benign	0.24
R7295:Rad51	UTSW	2	118,964,599 (GRCm39)	missense	possibly damaging	0.94
R7711:Rad51	UTSW	2	118,962,071 (GRCm39)	missense	probably benign	0.01
R8324:Rad51	UTSW	2	118,954,312 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- AAACTCAGAGTTCCACCTGC -3'
(R):5'- GCTGTCACTATACACCACCGTG -3'

Sequencing Primer
(F):5'- GCCTCTGCCTTCTAAGTGATGG -3'
(R):5'- ACCACCGTGTACTAATTATTCTCAC -3'

Posted On

2022-04-18