Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02194:Mre11a'

284001

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mre11a

Ensembl Gene

ENSMUSG00000031928

Gene Name

MRE11A homolog A, double strand break repair nuclease

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02194

Quality Score

Status

Chromosome

Chromosomal Location

14784654-14837123 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14815209 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 423 (S423P)

Ref Sequence

ENSEMBL: ENSMUSP00000034405 (fasta)

Gene Model

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

AlphaFold

Q61216

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034405
AA Change: S423P

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000034405
Gene: ENSMUSG00000031928
AA Change: S423P

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

possibly damaging
Transcript: ENSMUST00000115632
AA Change: S396P

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000111295
Gene: ENSMUSG00000031928
AA Change: S396P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000147676

SMART Domains

Protein: ENSMUSP00000119999
Gene: ENSMUSG00000031928

Domain	Start	End	E-Value	Type
PDB:3T1I\|D	2	50	3e-26	PDB
Mre11_DNA_bind	62	170	1.81e-32	SMART

Coding Region Coverage

Validation Efficiency

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	G	A	14: 54,591,355	Q230*	probably null	Het
Akap5	C	T	12: 76,328,033	P80S	probably damaging	Het
Akap6	T	A	12: 52,886,823	M366K	probably benign	Het
Ankef1	T	A	2: 136,550,509	D539E	probably benign	Het
Anxa11	A	G	14: 25,870,129	D39G	unknown	Het
Atp13a4	G	T	16: 29,456,629	H346N	probably damaging	Het
Btnl1	A	C	17: 34,379,535	T42P	possibly damaging	Het
Cul3	T	A	1: 80,323,037	Y29F	probably benign	Het
Dcun1d4	A	G	5: 73,481,201		probably benign	Het
Det1	A	T	7: 78,840,164	V371E	probably benign	Het
Duoxa2	C	A	2: 122,301,849	A248D	possibly damaging	Het
E330021D16Rik	T	C	6: 136,401,058	Q258R	probably benign	Het
Ehbp1l1	A	T	19: 5,718,857	I806K	probably benign	Het
Fam76b	G	T	9: 13,832,978	G124W	probably damaging	Het
Fhl5	T	C	4: 25,211,341	E117G	probably benign	Het
Ighv15-2	T	C	12: 114,564,721	I70V	probably damaging	Het
Iqca	T	C	1: 90,045,663	T768A	probably benign	Het
Itih1	A	C	14: 30,930,365	D786E	probably benign	Het
Krt15	A	G	11: 100,132,013		probably benign	Het
Lgals9	T	A	11: 78,966,920		probably null	Het
Map3k4	G	T	17: 12,263,928	P634H	probably damaging	Het
Map3k4	G	T	17: 12,248,995	Q1051K	probably benign	Het
Mettl21e	T	C	1: 44,211,183	D21G	probably benign	Het
Mzf1	T	A	7: 13,043,720	T665S	possibly damaging	Het
Olfr1216	T	C	2: 89,013,887	Y59C	probably damaging	Het
Olfr371	T	A	8: 85,230,633	I46N	possibly damaging	Het
Otx2	A	T	14: 48,661,393	V52D	possibly damaging	Het
Rnf157	C	T	11: 116,347,032		probably null	Het
Ssxa1	T	A	X: 21,121,155	I115N	unknown	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
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
R0050:Mre11a	UTSW	9	14830973	splice site	probably benign
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

2015-04-16