Mutagenetix > Incidental Mutation

Incidental Mutation 'R0050:Mre11a'

18492

Institutional Source

Beutler Lab

Gene Symbol

Mre11a

Ensembl Gene

ENSMUSG00000031928

Gene Name

MRE11A homolog A, double strand break repair nuclease

Synonyms

MMRRC Submission

038344-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0050 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

14784654-14837123 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 14830973 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111295 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034405] [ENSMUST00000115632]

AlphaFold

Q61216

Predicted Effect

probably benign
Transcript: ENSMUST00000034405

SMART Domains

Protein: ENSMUSP00000034405
Gene: ENSMUSG00000031928

Domain	Start	End	E-Value	Type
Pfam:Metallophos	13	249	6.3e-15	PFAM
Mre11_DNA_bind	294	462	1.72e-70	SMART
coiled coil region	487	519	N/A	INTRINSIC
low complexity region	566	594	N/A	INTRINSIC
low complexity region	683	699	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115632

SMART Domains

Protein: ENSMUSP00000111295
Gene: ENSMUSG00000031928

Domain	Start	End	E-Value	Type
Pfam:Metallophos	13	249	1.1e-31	PFAM
Mre11_DNA_bind	294	435	7.6e-49	SMART
coiled coil region	460	492	N/A	INTRINSIC
low complexity region	539	567	N/A	INTRINSIC
low complexity region	656	672	N/A	INTRINSIC

Coding Region Coverage

1x: 88.6%
3x: 85.4%
10x: 76.7%
20x: 62.7%

Validation Efficiency

90% (86/96)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein involved in homologous recombination, telomere length maintenance, and DNA double-strand break repair. By itself, the protein has 3' to 5' exonuclease activity and endonuclease activity. The protein forms a complex with the RAD50 homolog; this complex is required for nonhomologous joining of DNA ends and possesses increased single-stranded DNA endonuclease and 3' to 5' exonuclease activities. In conjunction with a DNA ligase, this protein promotes the joining of noncomplementary ends in vitro using short homologies near the ends of the DNA fragments. This gene has a pseudogene on chromosome 3. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Though mutation of this locus affected chromosome stability, mutant mice were no more susceptible to tumorigenesis than wild-type mice. Mutant female mice showed reduced fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,069,910		probably benign	Het
Abca9	C	T	11: 110,145,591	C564Y	probably damaging	Het
Abhd14a	A	T	9: 106,440,883		probably benign	Het
Acnat2	G	A	4: 49,380,586	T264I	probably benign	Het
Adamts2	T	C	11: 50,775,395	V406A	probably damaging	Het
Adcy5	A	G	16: 35,304,303		probably benign	Het
Akr1c13	T	C	13: 4,194,670		probably benign	Het
Ankar	T	A	1: 72,656,164	E1093D	probably damaging	Het
Arhgef38	C	A	3: 133,132,196	D75Y	probably damaging	Het
Asns	T	C	6: 7,676,019	I484V	probably benign	Het
Astn1	T	C	1: 158,579,724		probably benign	Het
Atg4b	T	A	1: 93,787,718		probably benign	Het
Cadm2	A	G	16: 66,953,266		probably benign	Het
Ces2c	T	A	8: 104,848,199	M96K	probably benign	Het
Cpd	T	A	11: 76,792,859	T1025S	possibly damaging	Het
Daw1	T	C	1: 83,180,365	V45A	probably benign	Het
Dmrt3	C	A	19: 25,622,589	P266H	probably damaging	Het
Dnah10	A	G	5: 124,830,744	T4416A	probably benign	Het
Dock9	A	G	14: 121,607,225	V1124A	probably benign	Het
Ermp1	C	A	19: 29,628,784	A190S	probably damaging	Het
Gm10267	T	A	18: 44,156,453		probably benign	Het
Golga2	T	A	2: 32,292,127	V29D	probably damaging	Het
Gprc6a	T	A	10: 51,615,389	M755L	probably damaging	Het
H1foo	G	T	6: 115,947,768	K78N	probably damaging	Het
Lama1	A	T	17: 67,782,056	D1574V	possibly damaging	Het
Lama3	T	A	18: 12,404,103	H268Q	probably damaging	Het
Lmntd1	T	C	6: 145,417,476	D107G	probably damaging	Het
Lrriq1	A	G	10: 103,068,931	V1614A	probably damaging	Het
Mmp12	A	G	9: 7,350,152		probably benign	Het
Mtrf1l	T	C	10: 5,815,553		silent	Het
Oaz2	A	G	9: 65,687,802	E61G	probably damaging	Het
Parp3	A	T	9: 106,471,401	D473E	possibly damaging	Het
Pear1	G	T	3: 87,755,987	Y441*	probably null	Het
Pkhd1l1	A	T	15: 44,573,807	T3493S	possibly damaging	Het
Ppp3cb	A	G	14: 20,531,752	V65A	possibly damaging	Het
Rheb	A	T	5: 24,817,834		probably benign	Het
Ros1	G	A	10: 52,101,803	T1449M	probably damaging	Het
Scn4a	C	G	11: 106,320,856	R1445P	probably damaging	Het
Sema3d	T	A	5: 12,584,953	M662K	probably benign	Het
Skp2	A	G	15: 9,125,091	F134L	probably benign	Het
Slc6a12	T	C	6: 121,360,419		probably benign	Het
Slc8a3	T	C	12: 81,315,265	Y260C	probably damaging	Het
Spin1	T	A	13: 51,150,418		probably benign	Het
Stx2	A	G	5: 128,999,508		probably null	Het
Sycp2	A	T	2: 178,364,711	V863D	probably damaging	Het
Tgfb3	T	A	12: 86,069,884	I127F	possibly damaging	Het
Tgif1	T	G	17: 70,850,884	K2Q	probably damaging	Het
Trmt2a	A	T	16: 18,250,843	E234D	probably damaging	Het
Trps1	A	T	15: 50,765,525	S696T	probably benign	Het
Ucp1	A	G	8: 83,294,228	E191G	probably damaging	Het
Usp48	C	A	4: 137,613,803	D371E	probably damaging	Het
Usp54	A	T	14: 20,573,755		probably benign	Het

Other mutations in Mre11a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Mre11a	APN	9	14825208	missense	probably benign	0.28
IGL00429:Mre11a	APN	9	14802813	missense	probably damaging	1.00
IGL00922:Mre11a	APN	9	14799588	missense	probably damaging	1.00
IGL01095:Mre11a	APN	9	14809824	missense	probably benign
IGL01294:Mre11a	APN	9	14830915	missense	probably damaging	0.97
IGL01871:Mre11a	APN	9	14811897	missense	possibly damaging	0.95
IGL02194:Mre11a	APN	9	14815209	missense	possibly damaging	0.70
IGL02213:Mre11a	APN	9	14811884	missense	probably damaging	1.00
IGL02245:Mre11a	APN	9	14815276	unclassified	probably benign
IGL02749:Mre11a	APN	9	14826591	missense	possibly damaging	0.78
IGL02812:Mre11a	APN	9	14790670	splice site	probably null
bow	UTSW	9	14786962	missense	probably damaging	1.00
R0594:Mre11a	UTSW	9	14815209	missense	probably benign	0.00
R1241:Mre11a	UTSW	9	14799639	missense	probably damaging	1.00
R1905:Mre11a	UTSW	9	14799627	missense	probably benign	0.08
R2030:Mre11a	UTSW	9	14795805	missense	probably damaging	1.00
R2270:Mre11a	UTSW	9	14815174	missense	probably benign	0.00
R2511:Mre11a	UTSW	9	14795769	critical splice acceptor site	probably null
R2851:Mre11a	UTSW	9	14826547	missense	probably benign	0.00
R2852:Mre11a	UTSW	9	14826547	missense	probably benign	0.00
R2853:Mre11a	UTSW	9	14826547	missense	probably benign	0.00
R3765:Mre11a	UTSW	9	14809847	missense	probably benign	0.25
R4612:Mre11a	UTSW	9	14802903	missense	probably damaging	1.00
R5007:Mre11a	UTSW	9	14809820	missense	probably benign	0.10
R5343:Mre11a	UTSW	9	14811834	missense	probably damaging	0.98
R5679:Mre11a	UTSW	9	14786919	missense	probably damaging	0.99
R5834:Mre11a	UTSW	9	14799657	missense	probably benign	0.15
R5914:Mre11a	UTSW	9	14811936	missense	probably damaging	1.00
R5935:Mre11a	UTSW	9	14786962	missense	probably damaging	1.00
R6089:Mre11a	UTSW	9	14819464	missense	probably benign	0.02
R6393:Mre11a	UTSW	9	14785509	start codon destroyed	probably null	0.00
R6625:Mre11a	UTSW	9	14805391	missense	possibly damaging	0.52
R7248:Mre11a	UTSW	9	14811913	missense	possibly damaging	0.52
R7744:Mre11a	UTSW	9	14809832	missense	possibly damaging	0.94
R7999:Mre11a	UTSW	9	14799669	nonsense	probably null
R8179:Mre11a	UTSW	9	14797066	missense	probably null	1.00
R9293:Mre11a	UTSW	9	14799588	missense	probably damaging	1.00
R9302:Mre11a	UTSW	9	14785530	critical splice donor site	probably null
R9368:Mre11a	UTSW	9	14825218	missense	probably benign
R9410:Mre11a	UTSW	9	14805420	missense	probably damaging	1.00

Posted On

2013-03-25