Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02812:Mre11a'

360630

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 #

IGL02812

Quality Score

Status

Chromosome

Chromosomal Location

14784654-14837123 bp(+) (GRCm38)

Type of Mutation

splice site (80 bp from exon)

DNA Base Change (assembly)

T to A at 14790670 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149184 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034405] [ENSMUST00000115632] [ENSMUST00000147305] [ENSMUST00000215820]

AlphaFold

Q61216

Predicted Effect

probably damaging
Transcript: ENSMUST00000034405
AA Change: M84K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034405
Gene: ENSMUSG00000031928
AA Change: M84K

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 damaging
Transcript: ENSMUST00000115632
AA Change: M84K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111295
Gene: ENSMUSG00000031928
AA Change: M84K

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 damaging
Transcript: ENSMUST00000147305
AA Change: M84K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116321
Gene: ENSMUSG00000031928
AA Change: M84K

Domain	Start	End	E-Value	Type
Pfam:Metallophos	13	199	1.2e-22	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000215820

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563D23Rik	A	G	16: 92,320,728	I224T	probably damaging	Het
Abca7	G	T	10: 80,006,047	V1005L	possibly damaging	Het
Abcc9	A	G	6: 142,697,790	S11P	possibly damaging	Het
Acsl1	A	T	8: 46,492,836	E2V	possibly damaging	Het
AI314180	T	A	4: 58,864,343		probably benign	Het
Aox3	G	A	1: 58,165,896	V757I	probably benign	Het
Aqp4	T	C	18: 15,397,575		probably null	Het
Arhgef7	A	G	8: 11,781,245		probably benign	Het
Armc9	T	A	1: 86,244,571	D2E	probably damaging	Het
Celsr2	G	A	3: 108,414,113	P461L	probably benign	Het
Cep170	T	C	1: 176,742,514	D1339G	probably damaging	Het
Clk1	T	A	1: 58,414,476	N317I	probably damaging	Het
Comp	G	A	8: 70,376,687	G305S	possibly damaging	Het
Depdc5	G	A	5: 32,893,368		probably benign	Het
Dse	T	C	10: 34,183,716	E131G	probably damaging	Het
Emilin3	G	A	2: 160,908,729	Q320*	probably null	Het
Epha2	A	G	4: 141,318,919		probably benign	Het
Fmnl1	A	G	11: 103,196,766		probably benign	Het
Gbp9	T	C	5: 105,083,758	N321D	probably damaging	Het
Gm5884	A	G	6: 128,645,775		noncoding transcript	Het
Gp2	A	T	7: 119,452,229	N254K	probably benign	Het
Hgh1	T	A	15: 76,369,554		probably null	Het
Inpp5f	A	G	7: 128,682,306	N543S	probably damaging	Het
Ints7	T	C	1: 191,619,741	V854A	probably damaging	Het
Itgb1bp1	T	G	12: 21,270,878		probably benign	Het
Lrrtm4	A	T	6: 80,021,964	N120Y	probably damaging	Het
Map3k5	T	C	10: 20,025,036	S319P	probably damaging	Het
Mc4r	A	G	18: 66,859,247	L265S	probably damaging	Het
Morc1	T	C	16: 48,558,506		probably benign	Het
Msh4	T	C	3: 153,901,400		probably benign	Het
Mterf4	A	G	1: 93,304,733	L132P	probably damaging	Het
Myo15	A	T	11: 60,477,179	E255V	probably benign	Het
Myot	T	C	18: 44,346,060	V288A	probably damaging	Het
Nipa2	T	C	7: 55,943,018	Y53C	probably damaging	Het
Npas1	T	A	7: 16,456,116	I502F	probably damaging	Het
Olfr1389	T	A	11: 49,430,922	W149R	probably damaging	Het
Olfr536	C	T	7: 140,503,620	V280M	probably damaging	Het
Osbp2	A	G	11: 3,714,637	V565A	probably benign	Het
Otof	A	G	5: 30,374,082	S1666P	probably benign	Het
Per3	A	C	4: 151,024,470	S476A	probably damaging	Het
Pja2	T	C	17: 64,297,794	N465D	probably damaging	Het
Pla2g4c	T	C	7: 13,348,365	F512S	probably damaging	Het
Plcd4	T	A	1: 74,557,808	L403Q	probably damaging	Het
Psg26	T	C	7: 18,475,155	T443A	probably benign	Het
Snapc4	T	A	2: 26,369,372	T589S	probably benign	Het
Spag8	G	A	4: 43,651,755	R404W	probably damaging	Het
Tdrd7	A	G	4: 45,994,406	D268G	probably benign	Het
Tfap2d	A	G	1: 19,142,927	H325R	possibly damaging	Het
Vmn1r59	C	T	7: 5,454,177	V195I	probably damaging	Het
Vmn1r67	G	A	7: 10,447,018	E70K	probably benign	Het
Wdr18	T	A	10: 79,961,064	N91K	possibly damaging	Het
Zbtb7b	T	C	3: 89,379,774	T463A	probably damaging	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
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

2015-12-18