Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00922:Mre11a'

28159

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 #

IGL00922

Quality Score

Status

Chromosome

Chromosomal Location

14784654-14837123 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14799588 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 193 (F193L)

Ref Sequence

ENSEMBL: ENSMUSP00000111295 (fasta)

Gene Model

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

AlphaFold

Q61216

Predicted Effect

probably damaging
Transcript: ENSMUST00000034405
AA Change: F193L

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

SMART Domains

Protein: ENSMUSP00000034405
Gene: ENSMUSG00000031928
AA Change: F193L

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: F193L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111295
Gene: ENSMUSG00000031928
AA Change: F193L

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

noncoding transcript
Transcript: ENSMUST00000136568

SMART Domains

Protein: ENSMUSP00000121012
Gene: ENSMUSG00000031928

Domain	Start	End	E-Value	Type
PDB:3T1I\|D	1	107	1e-70	PDB
SCOP:d1ii7a_	3	107	7e-8	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000147305
AA Change: F193L

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

SMART Domains

Protein: ENSMUSP00000116321
Gene: ENSMUSG00000031928
AA Change: F193L

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000119999
Gene: ENSMUSG00000031928
AA Change: F22L

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

Meta Mutation Damage Score

0.4193

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016L21Rik	T	C	5: 114,947,177		probably null	Het
Atr	T	A	9: 95,907,345	M1518K	probably damaging	Het
Baiap2l1	C	T	5: 144,318,967	G59D	probably damaging	Het
BC051019	C	A	7: 109,720,676	C60F	probably benign	Het
Brms1l	A	G	12: 55,845,326	Y135C	probably benign	Het
Cachd1	T	A	4: 100,966,966	S535T	probably benign	Het
Ccdc155	T	C	7: 45,185,306	E532G	possibly damaging	Het
Chkb	C	T	15: 89,422,288		probably null	Het
Coa7	G	T	4: 108,338,308	G145C	possibly damaging	Het
Cobl	T	A	11: 12,254,866	D605V	probably damaging	Het
Ddx54	T	A	5: 120,623,810		probably null	Het
Dnah6	A	T	6: 73,033,526		probably benign	Het
Dnaja2	A	T	8: 85,555,237	V4E	probably damaging	Het
Dnajc22	T	G	15: 99,101,579	L215R	possibly damaging	Het
Drc7	G	A	8: 95,077,978	V874I	probably benign	Het
Foxa2	A	C	2: 148,044,818	S26A	possibly damaging	Het
Gal	A	T	19: 3,411,575	V70E	probably benign	Het
Gjb4	T	C	4: 127,351,353	Y265C	probably benign	Het
Hc	A	G	2: 34,991,668	S1423P	probably damaging	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Map3k6	C	T	4: 133,243,044		probably benign	Het
Matn1	A	T	4: 130,952,974	Q454L	probably benign	Het
Mlxip	A	T	5: 123,440,065	N148I	probably damaging	Het
Myo1h	T	C	5: 114,360,485	Y881H	probably damaging	Het
Nphp4	C	T	4: 152,537,309		probably benign	Het
Olfr803	T	G	10: 129,691,454	I196L	probably benign	Het
Ptpn13	T	A	5: 103,588,088	V2151D	probably damaging	Het
Rnf141	T	C	7: 110,833,734		probably benign	Het
Rpe65	A	C	3: 159,614,542	D277A	probably damaging	Het
Sec14l1	C	T	11: 117,153,229	T521M	possibly damaging	Het
Slc25a30	A	T	14: 75,769,598	Y153N	probably damaging	Het
Slc6a12	C	T	6: 121,360,455	A366V	probably damaging	Het
Trp53bp1	T	A	2: 121,208,482	T1367S	probably damaging	Het
Vmn2r71	T	G	7: 85,618,693	S118R	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
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
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

2013-04-17