Mutagenetix > Incidental Mutation

Incidental Mutation 'R5007:Mre11a'

390220

Institutional Source

Beutler Lab

Gene Symbol

Mre11a

Ensembl Gene

ENSMUSG00000031928

Gene Name

MRE11A homolog A, double strand break repair nuclease

Synonyms

MMRRC Submission

042598-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5007 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14695971-14748421 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14721116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 345 (D345G)

Ref Sequence

ENSEMBL: ENSMUSP00000034405 (fasta)

Gene Model

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

AlphaFold

Q61216

Predicted Effect

probably benign
Transcript: ENSMUST00000034405
AA Change: D345G

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000034405
Gene: ENSMUSG00000031928
AA Change: D345G

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

Predicted Effect

unknown
Transcript: ENSMUST00000147676
AA Change: D112G

SMART Domains

Protein: ENSMUSP00000119999
Gene: ENSMUSG00000031928
AA Change: D112G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216810

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.6%

Validation Efficiency

99% (89/90)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	G	7: 27,278,192 (GRCm39)	T242R	probably damaging	Het
Abca8b	T	C	11: 109,827,590 (GRCm39)	T1473A	probably damaging	Het
Adam22	T	C	5: 8,217,393 (GRCm39)	Y134C	probably damaging	Het
Alg9	T	A	9: 50,699,524 (GRCm39)	M183K	probably damaging	Het
Ambra1	T	C	2: 91,602,655 (GRCm39)	I213T	possibly damaging	Het
Ankrd55	T	A	13: 112,504,466 (GRCm39)	V376D	probably benign	Het
Ano4	A	C	10: 88,948,807 (GRCm39)	V166G	probably benign	Het
Aox3	T	A	1: 58,202,583 (GRCm39)	C730S	probably benign	Het
Apc	T	A	18: 34,446,016 (GRCm39)	Y953N	probably damaging	Het
Ass1	T	C	2: 31,391,544 (GRCm39)	F273S	possibly damaging	Het
Atg2b	T	C	12: 105,610,135 (GRCm39)		probably null	Het
B3gnt9	A	G	8: 105,981,122 (GRCm39)	Y89H	probably damaging	Het
Cd38	T	G	5: 44,063,506 (GRCm39)	F200V	probably damaging	Het
Cep170	G	T	1: 176,597,380 (GRCm39)	R388S	probably benign	Het
Col22a1	A	T	15: 71,816,271 (GRCm39)	D614E	probably damaging	Het
Crybg3	C	A	16: 59,378,463 (GRCm39)		probably benign	Het
Ctdp1	A	T	18: 80,463,695 (GRCm39)	S114T	probably damaging	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Dmtf1	T	C	5: 9,172,439 (GRCm39)		probably benign	Het
Dnhd1	G	A	7: 105,362,283 (GRCm39)	V3715M	probably damaging	Het
Dok1	A	T	6: 83,009,297 (GRCm39)	L185H	probably damaging	Het
Dpep1	T	C	8: 123,926,117 (GRCm39)	V152A	probably damaging	Het
Eif2ak1	G	T	5: 143,810,698 (GRCm39)	R136L	probably benign	Het
Eml5	A	T	12: 98,797,224 (GRCm39)	S1063T	probably damaging	Het
Fam171b	T	A	2: 83,685,853 (GRCm39)	L179*	probably null	Het
Flot1	G	T	17: 36,135,267 (GRCm39)		probably benign	Het
Fmn2	A	T	1: 174,571,866 (GRCm39)	H1491L	probably damaging	Het
Frem1	C	T	4: 82,859,049 (GRCm39)		probably benign	Het
Gdf2	A	G	14: 33,666,863 (GRCm39)	D195G	probably benign	Het
Golga4	T	G	9: 118,387,368 (GRCm39)	C1497G	probably benign	Het
Gpaa1	T	A	15: 76,215,868 (GRCm39)	C33*	probably null	Het
Hectd1	A	T	12: 51,849,443 (GRCm39)	C254S	possibly damaging	Het
Hspa1b	C	T	17: 35,177,086 (GRCm39)	A300T	probably benign	Het
Igf2bp2	A	G	16: 21,898,246 (GRCm39)	I233T	probably damaging	Het
Iqce	C	A	5: 140,661,003 (GRCm39)	A491S	possibly damaging	Het
Irak3	A	G	10: 119,982,334 (GRCm39)		probably null	Het
Kcnip1	T	A	11: 33,592,495 (GRCm39)	H124L	probably benign	Het
Klhdc10	G	A	6: 30,450,640 (GRCm39)	R393Q	probably benign	Het
Klhl28	C	T	12: 65,004,001 (GRCm39)	E171K	probably damaging	Het
Map2	T	C	1: 66,452,448 (GRCm39)	V288A	possibly damaging	Het
Mdp1	C	T	14: 55,896,683 (GRCm39)	R126Q	probably damaging	Het
Meltf	A	G	16: 31,706,380 (GRCm39)	D288G	possibly damaging	Het
Mgat4e	T	A	1: 134,468,890 (GRCm39)	I385F	probably benign	Het
Mical3	A	C	6: 121,015,030 (GRCm39)	V211G	probably damaging	Het
Mlh1	A	G	9: 111,100,478 (GRCm39)	*39R	probably null	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Nat1	T	G	8: 67,944,077 (GRCm39)	L154R	probably benign	Het
Nlrp4a	A	G	7: 26,161,905 (GRCm39)	D851G	probably damaging	Het
Npas4	A	C	19: 5,039,684 (GRCm39)	V54G	possibly damaging	Het
Or13n4	T	C	7: 106,423,364 (GRCm39)	Y123C	probably damaging	Het
Pcbp4	G	A	9: 106,339,292 (GRCm39)	G100R	probably damaging	Het
Pcdh17	A	G	14: 84,770,737 (GRCm39)	T1072A	probably benign	Het
Pcdh18	T	C	3: 49,708,906 (GRCm39)	N803S	probably benign	Het
Ppat	C	T	5: 77,076,525 (GRCm39)		probably benign	Het
Ppm1l	T	A	3: 69,224,931 (GRCm39)	L11Q	probably damaging	Het
Pram1	T	A	17: 33,864,411 (GRCm39)	V658E	probably damaging	Het
Prr12	C	T	7: 44,699,225 (GRCm39)		probably benign	Het
Prxl2b	A	G	4: 154,981,531 (GRCm39)		probably null	Het
Ptprq	A	G	10: 107,444,137 (GRCm39)	V1489A	probably benign	Het
Ryr1	T	A	7: 28,768,540 (GRCm39)	I2817F	probably damaging	Het
Sall2	A	G	14: 52,551,950 (GRCm39)	L413P	probably damaging	Het
Slc7a9	T	A	7: 35,153,554 (GRCm39)	M185K	probably benign	Het
Stag2	C	T	X: 41,355,130 (GRCm39)	H1149Y	possibly damaging	Het
Timm10b	T	A	7: 105,290,298 (GRCm39)	Y64N	probably damaging	Het
Tmem30c	T	C	16: 57,086,868 (GRCm39)	T312A	probably benign	Het
Tmem9b	G	T	7: 109,344,550 (GRCm39)	C17*	probably null	Het
Vmn2r68	C	A	7: 84,881,622 (GRCm39)	R486L	probably benign	Het
Xkr9	T	A	1: 13,771,387 (GRCm39)	I301N	probably damaging	Het
Xpo7	T	C	14: 70,925,704 (GRCm39)	Q446R	probably damaging	Het
Ythdf3	T	C	3: 16,259,362 (GRCm39)	V503A	possibly damaging	Het
Zfp280b	T	A	10: 75,875,048 (GRCm39)	V309D	probably damaging	Het
Zfp53	T	A	17: 21,729,772 (GRCm39)	C602S	probably benign	Het
Zfp616	A	T	11: 73,974,643 (GRCm39)	N395I	possibly damaging	Het
Zfp644	T	C	5: 106,783,867 (GRCm39)	I862M	probably benign	Het
Zfp715	T	C	7: 42,949,019 (GRCm39)	T314A	possibly damaging	Het

Other mutations in Mre11a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Mre11a	APN	9	14,736,504 (GRCm39)	missense	probably benign	0.28
IGL00429:Mre11a	APN	9	14,714,109 (GRCm39)	missense	probably damaging	1.00
IGL00922:Mre11a	APN	9	14,710,884 (GRCm39)	missense	probably damaging	1.00
IGL01095:Mre11a	APN	9	14,721,120 (GRCm39)	missense	probably benign
IGL01294:Mre11a	APN	9	14,742,211 (GRCm39)	missense	probably damaging	0.97
IGL01871:Mre11a	APN	9	14,723,193 (GRCm39)	missense	possibly damaging	0.95
IGL02194:Mre11a	APN	9	14,726,505 (GRCm39)	missense	possibly damaging	0.70
IGL02213:Mre11a	APN	9	14,723,180 (GRCm39)	missense	probably damaging	1.00
IGL02245:Mre11a	APN	9	14,726,572 (GRCm39)	unclassified	probably benign
IGL02749:Mre11a	APN	9	14,737,887 (GRCm39)	missense	possibly damaging	0.78
IGL02812:Mre11a	APN	9	14,701,966 (GRCm39)	splice site	probably null
bow	UTSW	9	14,698,258 (GRCm39)	missense	probably damaging	1.00
R0050:Mre11a	UTSW	9	14,742,269 (GRCm39)	splice site	probably benign
R0594:Mre11a	UTSW	9	14,726,505 (GRCm39)	missense	probably benign	0.00
R1241:Mre11a	UTSW	9	14,710,935 (GRCm39)	missense	probably damaging	1.00
R1905:Mre11a	UTSW	9	14,710,923 (GRCm39)	missense	probably benign	0.08
R2030:Mre11a	UTSW	9	14,707,101 (GRCm39)	missense	probably damaging	1.00
R2270:Mre11a	UTSW	9	14,726,470 (GRCm39)	missense	probably benign	0.00
R2511:Mre11a	UTSW	9	14,707,065 (GRCm39)	critical splice acceptor site	probably null
R2851:Mre11a	UTSW	9	14,737,843 (GRCm39)	missense	probably benign	0.00
R2852:Mre11a	UTSW	9	14,737,843 (GRCm39)	missense	probably benign	0.00
R2853:Mre11a	UTSW	9	14,737,843 (GRCm39)	missense	probably benign	0.00
R3765:Mre11a	UTSW	9	14,721,143 (GRCm39)	missense	probably benign	0.25
R4612:Mre11a	UTSW	9	14,714,199 (GRCm39)	missense	probably damaging	1.00
R5343:Mre11a	UTSW	9	14,723,130 (GRCm39)	missense	probably damaging	0.98
R5679:Mre11a	UTSW	9	14,698,215 (GRCm39)	missense	probably damaging	0.99
R5834:Mre11a	UTSW	9	14,710,953 (GRCm39)	missense	probably benign	0.15
R5914:Mre11a	UTSW	9	14,723,232 (GRCm39)	missense	probably damaging	1.00
R5935:Mre11a	UTSW	9	14,698,258 (GRCm39)	missense	probably damaging	1.00
R6089:Mre11a	UTSW	9	14,730,760 (GRCm39)	missense	probably benign	0.02
R6393:Mre11a	UTSW	9	14,696,805 (GRCm39)	start codon destroyed	probably null	0.00
R6625:Mre11a	UTSW	9	14,716,687 (GRCm39)	missense	possibly damaging	0.52
R7248:Mre11a	UTSW	9	14,723,209 (GRCm39)	missense	possibly damaging	0.52
R7744:Mre11a	UTSW	9	14,721,128 (GRCm39)	missense	possibly damaging	0.94
R7999:Mre11a	UTSW	9	14,710,965 (GRCm39)	nonsense	probably null
R8179:Mre11a	UTSW	9	14,708,362 (GRCm39)	missense	probably null	1.00
R9293:Mre11a	UTSW	9	14,710,884 (GRCm39)	missense	probably damaging	1.00
R9302:Mre11a	UTSW	9	14,696,826 (GRCm39)	critical splice donor site	probably null
R9368:Mre11a	UTSW	9	14,736,514 (GRCm39)	missense	probably benign
R9410:Mre11a	UTSW	9	14,716,716 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGTTAAGGGACGAGGTTG -3'
(R):5'- TTCACCTGAGATTAGACCAAGCC -3'

Sequencing Primer
(F):5'- TGGTAGGGCCACAAGCTTTAAATG -3'
(R):5'- TGAGATTAGACCAAGCCCACAG -3'

Posted On

2016-06-06