Mutagenetix > Incidental Mutation

Incidental Mutation 'R8485:Rdm1'

657695

Institutional Source

Beutler Lab

Gene Symbol

Rdm1

Ensembl Gene

ENSMUSG00000010362

Gene Name

RAD52 motif 1

Synonyms

2410008M22Rik, Rad52b

MMRRC Submission

067928-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

R8485 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101518021-101526926 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 101518816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 8 (V8I)

Ref Sequence

ENSEMBL: ENSMUSP00000010506 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010506]

AlphaFold

Q9CQK3

Predicted Effect

probably benign
Transcript: ENSMUST00000010506
AA Change: V8I

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000010506
Gene: ENSMUSG00000010362
AA Change: V8I

Domain	Start	End	E-Value	Type
RRM	16	94	6.2e-6	SMART
low complexity region	248	259	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133727

SMART Domains

Protein: ENSMUSP00000118996
Gene: ENSMUSG00000010362

Domain	Start	End	E-Value	Type
Pfam:Rad52_Rad22	14	118	1.9e-8	PFAM

Meta Mutation Damage Score

0.0846

Coding Region Coverage

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

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in the cellular response to cisplatin, a drug commonly used in chemotherapy. The protein encoded by this gene contains two motifs: a motif found in RAD52, a protein that functions in DNA double-strand breaks and homologous recombination, and an RNA recognition motif (RRM) that is not found in RAD52. The RAD52 motif region in RAD52 is important for protein function and may be involved in DNA binding or oligomerization. Alternatively spliced transcript variants encoding different isoforms have been reported. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	A	G	3: 97,066,302 (GRCm39)		probably benign	Het
Adamts16	T	C	13: 70,886,794 (GRCm39)	T999A	possibly damaging	Het
Adgrb1	A	C	15: 74,420,153 (GRCm39)	T829P	probably damaging	Het
Ankrd12	C	T	17: 66,290,711 (GRCm39)	S1574N	probably benign	Het
Ankrd2	G	A	19: 42,030,384 (GRCm39)		probably null	Het
Ano3	T	A	2: 110,498,200 (GRCm39)		probably null	Het
Arhgap18	T	C	10: 26,722,104 (GRCm39)	I25T	probably benign	Het
Armc3	T	C	2: 19,297,945 (GRCm39)	F572S	probably damaging	Het
Aspdh	G	T	7: 44,117,093 (GRCm39)	G165W	probably damaging	Het
Btnl10	G	T	11: 58,811,142 (GRCm39)	R155L	possibly damaging	Het
Cacng7	A	G	7: 3,414,541 (GRCm39)	E168G	probably benign	Het
Cadps	G	A	14: 12,439,872 (GRCm38)	T1215M	probably damaging	Het
Cbfa2t3	C	A	8: 123,357,517 (GRCm39)	G598C	probably damaging	Het
Cdh15	T	C	8: 123,584,105 (GRCm39)	S69P	probably damaging	Het
Cwc27	G	T	13: 104,940,772 (GRCm39)	P196T	probably benign	Het
Cwc27	C	A	13: 104,940,776 (GRCm39)	L194F	possibly damaging	Het
Dlec1	T	G	9: 118,957,659 (GRCm39)	V881G	probably benign	Het
Dnah7c	A	C	1: 46,719,952 (GRCm39)	D2801A	probably benign	Het
Efhc1	T	C	1: 21,030,460 (GRCm39)	M131T	possibly damaging	Het
Ercc2	G	A	7: 19,122,165 (GRCm39)	V386I	possibly damaging	Het
Exoc4	T	A	6: 33,898,436 (GRCm39)	I885N	probably damaging	Het
Fbxl22	C	T	9: 66,421,849 (GRCm39)		probably null	Het
Flii	G	T	11: 60,607,063 (GRCm39)	A971E	probably benign	Het
Fnip2	T	A	3: 79,388,844 (GRCm39)	E599V	probably benign	Het
Glb1l2	G	A	9: 26,679,036 (GRCm39)	L453F	probably benign	Het
Gm49368	C	T	7: 127,711,611 (GRCm39)	P624L	probably damaging	Het
Gpa33	T	A	1: 165,992,261 (GRCm39)	D268E	probably benign	Het
Gpi1	A	T	7: 33,918,677 (GRCm39)		probably null	Het
Iqgap2	T	C	13: 95,796,659 (GRCm39)	N1165S	probably damaging	Het
Irag2	A	T	6: 145,117,400 (GRCm39)	N379I	probably damaging	Het
Kctd2	G	T	11: 115,320,434 (GRCm39)		probably benign	Het
L1td1	C	T	4: 98,625,911 (GRCm39)	A702V	probably damaging	Het
Lrp1	G	A	10: 127,394,519 (GRCm39)	R2565C	probably damaging	Het
Mycbpap	A	G	11: 94,402,534 (GRCm39)	L267P	probably damaging	Het
Mycbpap	T	C	11: 94,405,359 (GRCm39)	R57G	probably benign	Het
Myo1b	A	C	1: 51,818,760 (GRCm39)	L505R	probably damaging	Het
Nfatc2	A	C	2: 168,432,012 (GRCm39)	F34V	probably damaging	Het
Nphs1	A	G	7: 30,165,598 (GRCm39)	N655S	probably damaging	Het
Nsd2	A	T	5: 34,040,189 (GRCm39)	I909F	probably damaging	Het
Or10ag60	A	T	2: 87,438,601 (GRCm39)	M290L	probably benign	Het
Or8b37	T	A	9: 37,959,253 (GRCm39)	M245K	probably benign	Het
Pak2	G	A	16: 31,871,083 (GRCm39)	A33V	probably benign	Het
Phb1	A	G	11: 95,566,055 (GRCm39)	D113G	probably benign	Het
Pkhd1	T	A	1: 20,593,257 (GRCm39)	I1619F	probably damaging	Het
Pkhd1l1	A	G	15: 44,423,796 (GRCm39)	I3113V	probably damaging	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Prrc2b	T	A	2: 32,102,105 (GRCm39)	M726K	possibly damaging	Het
Rai14	A	G	15: 10,575,122 (GRCm39)	L612P	probably damaging	Het
Rapgef1	T	C	2: 29,600,186 (GRCm39)	S598P	probably damaging	Het
Rrbp1	A	G	2: 143,796,933 (GRCm39)	F1148L	probably benign	Het
Slc12a2	T	C	18: 58,074,218 (GRCm39)		probably null	Het
Slc7a8	T	A	14: 54,962,264 (GRCm39)	T457S	probably benign	Het
Stk32a	T	A	18: 43,376,075 (GRCm39)	M48K	possibly damaging	Het
Svil	T	C	18: 5,064,566 (GRCm39)	S642P	probably benign	Het
Taok3	G	A	5: 117,389,142 (GRCm39)	V516M	possibly damaging	Het
Ugdh	T	C	5: 65,584,902 (GRCm39)	I7V	possibly damaging	Het
Zc3h11a	T	A	1: 133,553,633 (GRCm39)	S504C	possibly damaging	Het
Zfp512	C	T	5: 31,637,401 (GRCm39)	R497W	probably damaging	Het

Other mutations in Rdm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Rdm1	APN	11	101,526,580 (GRCm39)	missense	possibly damaging	0.58
IGL02153:Rdm1	APN	11	101,519,280 (GRCm39)	critical splice donor site	probably null
IGL02589:Rdm1	APN	11	101,518,831 (GRCm39)	missense	possibly damaging	0.80
R0532:Rdm1	UTSW	11	101,526,661 (GRCm39)	missense	probably benign	0.11
R1111:Rdm1	UTSW	11	101,524,721 (GRCm39)	missense	probably benign	0.19
R1532:Rdm1	UTSW	11	101,524,643 (GRCm39)	missense	probably damaging	1.00
R1618:Rdm1	UTSW	11	101,519,217 (GRCm39)	missense	possibly damaging	0.83
R1696:Rdm1	UTSW	11	101,521,694 (GRCm39)	missense	probably benign	0.43
R2205:Rdm1	UTSW	11	101,525,629 (GRCm39)	missense	probably damaging	1.00
R2921:Rdm1	UTSW	11	101,521,716 (GRCm39)	missense	possibly damaging	0.90
R2922:Rdm1	UTSW	11	101,521,716 (GRCm39)	missense	possibly damaging	0.90
R2923:Rdm1	UTSW	11	101,521,716 (GRCm39)	missense	possibly damaging	0.90
R4327:Rdm1	UTSW	11	101,521,734 (GRCm39)	missense	probably damaging	1.00
R4329:Rdm1	UTSW	11	101,521,734 (GRCm39)	missense	probably damaging	1.00
R6364:Rdm1	UTSW	11	101,521,068 (GRCm39)	missense	probably benign	0.01
R7109:Rdm1	UTSW	11	101,524,654 (GRCm39)	missense	probably damaging	1.00
R8063:Rdm1	UTSW	11	101,521,694 (GRCm39)	missense	probably benign	0.43
R9209:Rdm1	UTSW	11	101,518,857 (GRCm39)	missense	probably benign
X0010:Rdm1	UTSW	11	101,518,796 (GRCm39)	start codon destroyed	probably null	0.99

Predicted Primers

PCR Primer
(F):5'- AACTGAGTTCTCGTTTGCGCC -3'
(R):5'- ATCTAAGGAGGAGACAAGCCCTC -3'

Sequencing Primer
(F):5'- GAGTACCGACTGCTTTTCCAAAGG -3'
(R):5'- TCGCTGGCTCCCCGTTC -3'

Posted On

2021-01-18