Mutagenetix > Incidental Mutations

Incidental Mutation 'R6364:Rdm1'

513432

Institutional Source

Beutler Lab

Gene Symbol

Rdm1

Ensembl Gene

ENSMUSG00000010362

Gene Name

RAD52 motif 1

Synonyms

Rad52b, 2410008M22Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R6364 (G1)

Quality Score

217.009

Status

Validated

Chromosome

Chromosomal Location

101627195-101636100 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 101630242 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 94 (R94H)

Ref Sequence

ENSEMBL: ENSMUSP00000010506 (fasta)

Gene Model

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

AlphaFold

Q9CQK3

Predicted Effect

probably benign
Transcript: ENSMUST00000010506
AA Change: R94H

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000010506
Gene: ENSMUSG00000010362
AA Change: R94H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083833

Predicted Effect

unknown
Transcript: ENSMUST00000133727
AA Change: R23H

SMART Domains

Protein: ENSMUSP00000118996
Gene: ENSMUSG00000010362
AA Change: R23H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139037

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152484

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155222

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

99% (69/70)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 89,721,814	Y234C	possibly damaging	Het
Als2cr12	G	T	1: 58,658,372	A403D	probably damaging	Het
Ambra1	C	A	2: 91,773,316	H548Q	possibly damaging	Het
Ap3d1	T	C	10: 80,710,494		probably null	Het
Apol11b	A	G	15: 77,638,058	V13A	possibly damaging	Het
Arhgdib	C	T	6: 136,932,255		probably null	Het
B3galt1	T	A	2: 68,118,672	S244T	probably damaging	Het
Bace2	A	G	16: 97,413,433	I274V	probably benign	Het
Bfsp2	A	T	9: 103,448,628	V272D	probably damaging	Het
Blm	A	T	7: 80,494,526	C782*	probably null	Het
Cfi	G	A	3: 129,872,846	S406N	probably benign	Het
Chd1l	G	A	3: 97,587,167	A399V	probably damaging	Het
Cic	C	A	7: 25,272,823	H660N	possibly damaging	Het
Cops3	A	G	11: 59,835,404		probably benign	Het
Dlec1	G	A	9: 119,121,871	V502I	possibly damaging	Het
Epop	A	G	11: 97,628,687	S199P	probably benign	Het
Evi5	G	T	5: 107,842,113	P80Q	probably damaging	Het
Faf1	T	C	4: 109,961,800	V623A	possibly damaging	Het
Fam129c	G	A	8: 71,599,089	G23S	probably benign	Het
Fam83c	T	C	2: 155,834,523	D109G	probably damaging	Het
Fam83d	T	C	2: 158,783,259		probably null	Het
Foxn3	T	C	12: 99,388,693	N71D	probably benign	Het
Gm7298	A	G	6: 121,779,443	R1016G	possibly damaging	Het
Grin2d	T	C	7: 45,858,454	E396G	possibly damaging	Het
Htra2	C	A	6: 83,053,046	V311F	probably damaging	Het
Kif6	A	T	17: 49,620,623	T33S	probably benign	Het
Kmt2c	T	C	5: 25,309,636	I3070V	probably null	Het
Krtap5-2	A	T	7: 142,175,063	C293*	probably null	Het
Lrp3	T	A	7: 35,203,709	D404V	probably benign	Het
Mc2r	T	G	18: 68,407,536	I229L	probably benign	Het
Mtnr1b	A	G	9: 15,863,004	M253T	possibly damaging	Het
Nfat5	A	G	8: 107,368,277	N531S	probably benign	Het
Npr2	T	A	4: 43,643,622	I550N	probably damaging	Het
Npy6r	T	C	18: 44,276,511	I333T	possibly damaging	Het
Nup88	C	T	11: 70,947,786	R468Q	probably benign	Het
Nup98	G	A	7: 102,176,315	T422I	probably damaging	Het
Olfr433	T	A	1: 174,042,212	H87Q	possibly damaging	Het
Oraov1	A	G	7: 144,919,268	D105G	probably benign	Het
Otud4	A	G	8: 79,646,341	N96S	probably damaging	Het
Paqr6	T	C	3: 88,365,958	F86L	probably damaging	Het
Ppp4r3b	A	T	11: 29,188,035	T90S	probably benign	Het
Ptbp2	A	T	3: 119,740,442	N23K	probably damaging	Het
Ralgapb	G	T	2: 158,462,109	G596V	probably damaging	Het
Rergl	A	T	6: 139,500,748	F28I	probably damaging	Het
Rif1	G	T	2: 52,107,669	S1000I	probably damaging	Het
Rnf141	C	T	7: 110,821,309	A163T	possibly damaging	Het
Scaf4	G	A	16: 90,260,248	Q72*	probably null	Het
Sdk1	G	T	5: 141,962,709	S603I	probably benign	Het
Sdsl	T	C	5: 120,460,609	I147M	probably damaging	Het
Serpina6	T	C	12: 103,654,236	N85D	probably benign	Het
Serpinf2	A	G	11: 75,436,489	I204T	probably damaging	Het
Shank2	A	G	7: 144,410,409	S795G	probably benign	Het
Simc1	C	T	13: 54,524,600	Q254*	probably null	Het
Slc30a3	G	A	5: 31,088,739	P216S	possibly damaging	Het
Smim14	T	A	5: 65,453,296	I53F	probably benign	Het
Sp3	T	C	2: 72,970,941	T243A	probably benign	Het
Srpk2	A	G	5: 23,540,467	F164L	probably damaging	Het
Stard9	T	C	2: 120,713,429	F4403L	probably damaging	Het
Tbc1d30	T	C	10: 121,294,725	T267A	possibly damaging	Het
Tgm7	T	A	2: 121,096,397	R424*	probably null	Het
Tmbim6	T	C	15: 99,406,185	L113P	probably damaging	Het
Tmcc1	G	A	6: 116,043,761		probably benign	Het
Tomm7	A	G	5: 23,844,030	L15P	probably damaging	Het
Tpcn1	T	C	5: 120,553,810	Y263C	probably damaging	Het
Trim34b	T	C	7: 104,336,526	F456S	probably damaging	Het
Uox	C	T	3: 146,624,577	R163*	probably null	Het
Vmn2r108	A	G	17: 20,470,998	I421T	probably benign	Het
Wdr43	A	G	17: 71,657,654	E676G	probably damaging	Het
Wdr60	A	T	12: 116,241,732	D412E	probably damaging	Het
Zcchc14	G	T	8: 121,604,859		probably benign	Het
Zfp64	C	A	2: 168,912,266	G25V	probably damaging	Het
Zswim8	C	A	14: 20,713,011	P326H	probably damaging	Het

Other mutations in Rdm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Rdm1	APN	11	101635754	missense	possibly damaging	0.58
IGL02153:Rdm1	APN	11	101628454	critical splice donor site	probably null
IGL02589:Rdm1	APN	11	101628005	missense	possibly damaging	0.80
R0532:Rdm1	UTSW	11	101635835	missense	probably benign	0.11
R1111:Rdm1	UTSW	11	101633895	missense	probably benign	0.19
R1532:Rdm1	UTSW	11	101633817	missense	probably damaging	1.00
R1618:Rdm1	UTSW	11	101628391	missense	possibly damaging	0.83
R1696:Rdm1	UTSW	11	101630868	missense	probably benign	0.43
R2205:Rdm1	UTSW	11	101634803	missense	probably damaging	1.00
R2921:Rdm1	UTSW	11	101630890	missense	possibly damaging	0.90
R2922:Rdm1	UTSW	11	101630890	missense	possibly damaging	0.90
R2923:Rdm1	UTSW	11	101630890	missense	possibly damaging	0.90
R4327:Rdm1	UTSW	11	101630908	missense	probably damaging	1.00
R4329:Rdm1	UTSW	11	101630908	missense	probably damaging	1.00
R7109:Rdm1	UTSW	11	101633828	missense	probably damaging	1.00
R8063:Rdm1	UTSW	11	101630868	missense	probably benign	0.43
R8485:Rdm1	UTSW	11	101627990	missense	probably benign	0.28
R9209:Rdm1	UTSW	11	101628031	missense	probably benign
X0010:Rdm1	UTSW	11	101627970	start codon destroyed	probably null	0.99

Predicted Primers

PCR Primer
(F):5'- TTCAAGGTACTATTGGGAAGTGAG -3'
(R):5'- GCCCTGTAAAAGCCTCCTTG -3'

Sequencing Primer
(F):5'- AGCACAGGTTAGCCTTGTAC -3'
(R):5'- AAAGCCTCCTTGAAGTCTAGG -3'

Posted On

2018-04-27