Mutagenetix > Incidental Mutation

Incidental Mutation 'R9302:Mre11a'

705014

Institutional Source

Beutler Lab

Gene Symbol

Mre11a

Ensembl Gene

ENSMUSG00000031928

Gene Name

MRE11A homolog A, double strand break repair nuclease

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9302 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14784654-14837123 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 14785530 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034405 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034405] [ENSMUST00000034406] [ENSMUST00000115632] [ENSMUST00000147305] [ENSMUST00000214456] [ENSMUST00000214979] [ENSMUST00000215820] [ENSMUST00000216037] [ENSMUST00000216372]

AlphaFold

Q61216

Predicted Effect

probably null
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: ENSMUST00000034406

SMART Domains

Protein: ENSMUSP00000034406
Gene: ENSMUSG00000031931

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	50	60	N/A	INTRINSIC
ANK	72	102	1.02e3	SMART
ANK	106	135	7.24e-7	SMART
ANK	139	168	1.94e-7	SMART
ANK	172	203	1.37e2	SMART

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

Predicted Effect

probably benign
Transcript: ENSMUST00000147305

SMART Domains

Protein: ENSMUSP00000116321
Gene: ENSMUSG00000031928

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

Predicted Effect

probably benign
Transcript: ENSMUST00000214456

Predicted Effect

probably benign
Transcript: ENSMUST00000214979

Predicted Effect

probably benign
Transcript: ENSMUST00000215820

Predicted Effect

probably benign
Transcript: ENSMUST00000216037

Predicted Effect

probably benign
Transcript: ENSMUST00000216372

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (54/54)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aar2	T	C	2: 156,551,036	L115P	probably damaging	Het
Acsl1	T	A	8: 46,530,433	D494E	probably damaging	Het
Adgrl1	T	C	8: 83,929,797	V243A	possibly damaging	Het
Ak9	A	T	10: 41,320,490	I103F		Het
Ank3	C	T	10: 69,926,019		probably benign	Het
Ano4	T	A	10: 88,995,358	I468L	probably benign	Het
Arhgef10l	G	A	4: 140,515,237	S959L	probably benign	Het
Cdh23	G	A	10: 60,307,527	A3005V	possibly damaging	Het
Cfap221	T	C	1: 119,925,635	I776M	probably benign	Het
Col3a1	C	T	1: 45,311,820	Q25*	probably null	Het
Crabp2	C	A	3: 87,952,526	L100I	probably benign	Het
Dnah5	A	G	15: 28,239,886	D463G	probably benign	Het
Dst	T	C	1: 34,225,555	L2602P	probably damaging	Het
Dusp1	A	G	17: 26,507,174	Y182H	probably damaging	Het
Fam160a1	C	A	3: 85,672,634	D755Y	probably damaging	Het
Fras1	T	A	5: 96,534,892	C83S	probably damaging	Het
Frrs1	G	T	3: 116,899,250		probably null	Het
Gcnt3	A	G	9: 70,035,247	L13P	possibly damaging	Het
Gm21188	A	G	13: 120,035,090	I81T	probably benign	Het
Gm8094	T	C	14: 43,075,377	D88G	probably benign	Het
Hfe	C	T	13: 23,706,042	M249I	probably benign	Het
Hipk1	T	C	3: 103,777,783	E172G	probably benign	Het
Iws1	G	A	18: 32,080,160	E214K	possibly damaging	Het
Ltb4r2	A	T	14: 55,762,276	Q118L	probably damaging	Het
Ltbp4	A	T	7: 27,309,056	C1342S	possibly damaging	Het
Lyst	A	G	13: 13,730,362	D3208G	possibly damaging	Het
Mbnl2	A	G	14: 120,385,538	T163A	probably benign	Het
Myo15b	A	G	11: 115,885,412	N610D	possibly damaging	Het
Nt5c1b	T	C	12: 10,380,882	S390P	probably damaging	Het
Olfr1115	T	A	2: 87,252,562	F208L	probably benign	Het
Pde3b	A	G	7: 114,523,386	T730A	probably damaging	Het
Pdzd2	G	T	15: 12,374,256	T1931N	possibly damaging	Het
Pla2g15	C	T	8: 106,150,569	A28V	probably benign	Het
Pmfbp1	A	T	8: 109,541,842	D1007V	probably damaging	Het
Polr1a	T	A	6: 71,924,699		probably null	Het
Ppp1r3a	T	C	6: 14,721,892	K312E	probably benign	Het
Prmt5	G	A	14: 54,512,126	T269I	probably benign	Het
Pwp2	A	G	10: 78,173,706	S793P	probably benign	Het
Rbm12b1	C	A	4: 12,146,181	H718N	probably benign	Het
Rfx1	T	A	8: 84,091,033	M512K	possibly damaging	Het
Rp1	T	C	1: 4,346,566	E1441G	probably damaging	Het
Slc16a6	C	T	11: 109,459,808	V207I	probably benign	Het
Slc6a9	G	A	4: 117,849,399	R7H	possibly damaging	Het
Sptlc1	A	T	13: 53,374,011	V39D	probably benign	Het
Strc	A	T	2: 121,380,855	L3Q	unknown	Het
Svep1	C	T	4: 58,120,565	E823K	possibly damaging	Het
Tat	A	G	8: 109,998,399		probably benign	Het
Thoc1	T	A	18: 9,968,800	N190K	possibly damaging	Het
Tomt	T	C	7: 101,900,619	E154G	probably damaging	Het
Topaz1	T	A	9: 122,788,822	V1228E	possibly damaging	Het
Trim55	G	A	3: 19,672,989	V407M	probably benign	Het
Ttll5	T	A	12: 85,826,564	M5K	possibly damaging	Het
Ugt2a2	A	C	5: 87,462,081	Y380*	probably null	Het
Usp46	A	G	5: 74,003,261	Y272H	probably benign	Het
Vps39	A	T	2: 120,321,044		probably benign	Het
Zfp12	T	A	5: 143,244,666	H281Q	probably damaging	Het
Zfp142	C	A	1: 74,567,143	R1756L	probably damaging	Het
Zmynd10	T	A	9: 107,549,317	I183K	possibly 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
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
R9368:Mre11a	UTSW	9	14825218	missense	probably benign
R9410:Mre11a	UTSW	9	14805420	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAAAATCACTAGCGCTTGTTC -3'
(R):5'- TGCATGGCCATGTAATTACTGC -3'

Sequencing Primer
(F):5'- GCGCTTGTTCAAAAAGTCTACC -3'
(R):5'- TGGCCATGTAATTACTGCAACAC -3'

Posted On

2022-03-25