Mutagenetix > Incidental Mutation

Incidental Mutation 'R9368:Mre11a'

709135

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 #

R9368 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14784654-14837123 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14825218 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 548 (F548L)

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: F548L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034405
Gene: ENSMUSG00000031928
AA Change: F548L

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
AA Change: F521L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111295
Gene: ENSMUSG00000031928
AA Change: F521L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623		probably benign	Het
Abcc9	A	T	6: 142,694,525	L79H	probably damaging	Het
Alb	A	G	5: 90,475,284	T601A	probably benign	Het
Aldh1l2	A	T	10: 83,495,952	L776*	probably null	Het
Ank3	A	G	10: 69,987,499	K666R		Het
Ankrd17	T	C	5: 90,244,127	T1895A	possibly damaging	Het
Ankrd17	C	T	5: 90,268,649	R1108Q	probably damaging	Het
Ap2a2	T	C	7: 141,627,902	F738L	probably benign	Het
Ap4m1	T	A	5: 138,177,183	C319*	probably null	Het
Arsj	C	T	3: 126,439,096	T497M	probably damaging	Het
Begain	G	T	12: 109,033,992	S284R	probably damaging	Het
Bicc1	A	T	10: 70,950,087	N408K	probably benign	Het
Cacybp	T	C	1: 160,203,638	M207V	possibly damaging	Het
Cct8l1	A	G	5: 25,516,338	D17G	probably benign	Het
Cd1d1	C	A	3: 86,998,632		probably null	Het
Chd3	C	T	11: 69,360,374	C554Y	probably damaging	Het
Chsy1	A	G	7: 66,171,751	D578G	probably damaging	Het
Col6a6	T	C	9: 105,786,101	Q79R	possibly damaging	Het
Cpne4	A	T	9: 104,686,539	R38S	probably damaging	Het
Cyp3a57	A	G	5: 145,381,349	D380G	probably benign	Het
Dnah6	A	T	6: 73,021,278	S4054T	probably benign	Het
Emb	G	T	13: 117,220,560		probably benign	Het
Eml5	T	C	12: 98,796,578	R1648G	probably benign	Het
Fam117b	A	T	1: 59,981,581	M537L	probably benign	Het
Fcrls	C	T	3: 87,257,599	V207I	possibly damaging	Het
Ffar1	A	G	7: 30,861,032	S147P	probably benign	Het
Fgfr3	G	A	5: 33,727,872	R110Q	probably benign	Het
Frmd6	T	A	12: 70,887,091		probably null	Het
Fry	A	G	5: 150,477,938	R356G		Het
Fsip2	A	G	2: 82,980,695	R2453G	possibly damaging	Het
Glipr1l3	G	A	10: 112,148,018	T181I	probably benign	Het
Hoxc10	A	G	15: 102,970,947	I301V	possibly damaging	Het
Igf2bp2	T	A	16: 22,065,145	D463V	probably damaging	Het
Ints13	T	C	6: 146,565,631	D194G	probably null	Het
Kif5c	A	T	2: 49,732,780	E548V	probably damaging	Het
Lrp2	T	C	2: 69,527,635	D350G	probably damaging	Het
Lrrc61	T	C	6: 48,568,311	S23P	possibly damaging	Het
Mcpt4	T	C	14: 56,061,677	M35V	probably damaging	Het
Mical1	T	A	10: 41,481,306	M369K	possibly damaging	Het
Muc20	C	T	16: 32,794,101	C302Y	possibly damaging	Het
Nlgn1	T	C	3: 25,434,458	D571G	probably damaging	Het
Nup88	T	C	11: 70,967,930	K131E	probably damaging	Het
Nwd2	A	G	5: 63,804,963	D630G	probably damaging	Het
Olfr187	C	T	16: 59,036,315	V141M	probably benign	Het
Olfr410	A	G	11: 74,334,367	L288P	probably damaging	Het
Olfr805	A	T	10: 129,723,012	C177*	probably null	Het
Pdzd8	A	T	19: 59,300,787	L727*	probably null	Het
Pi16	T	A	17: 29,327,878	N475K	probably benign	Het
Pikfyve	G	A	1: 65,268,742	A1826T	probably damaging	Het
Plxna1	A	T	6: 89,337,156	S768T	probably benign	Het
Plxnc1	T	A	10: 94,864,737	R656*	probably null	Het
Poglut1	A	G	16: 38,529,488	W308R	probably damaging	Het
Prmt9	T	G	8: 77,559,034	V165G	probably benign	Het
Ptch2	A	G	4: 117,104,772	E102G	probably damaging	Het
Rpn2	G	T	2: 157,299,580	A303S	possibly damaging	Het
Rttn	A	C	18: 89,060,452	H1334P	probably damaging	Het
Sept3	A	T	15: 82,279,538	D32V	probably damaging	Het
Sftpa1	G	T	14: 41,132,460	M1I	probably null	Het
Slc15a2	G	A	16: 36,753,718	T591I	probably benign	Het
Slc18a2	C	T	19: 59,274,359	T252I	probably benign	Het
Smchd1	A	G	17: 71,387,076	F1225L	probably damaging	Het
Sppl2c	G	A	11: 104,187,735	G454S	probably damaging	Het
Swt1	A	G	1: 151,411,016	S242P	possibly damaging	Het
Tcaim	C	A	9: 122,818,863	H148N	probably damaging	Het
Tgfbr3l	T	C	8: 4,249,640	V141A	probably damaging	Het
Ticrr	A	G	7: 79,680,987	D711G	probably damaging	Het
Trim45	A	T	3: 100,925,003	Q184L	possibly damaging	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Usp25	G	A	16: 77,107,955	R803H	probably damaging	Het
Vmn2r71	T	A	7: 85,624,234	M752K	probably damaging	Het
Wdr35	G	A	12: 9,021,826	V893I	probably benign	Het
Zdhhc7	G	T	8: 120,087,755	P105Q	probably damaging	Het
Zfp316	A	G	5: 143,264,291		probably null	Het
Zfp454	G	C	11: 50,873,710	N298K	possibly damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,890,600		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
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
R9302:Mre11a	UTSW	9	14785530	critical splice donor site	probably null
R9410:Mre11a	UTSW	9	14805420	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGACACTCCTCCCACATCTG -3'
(R):5'- TCTGACCAAAGGACACAACTTG -3'

Sequencing Primer
(F):5'- CACATCTGTATAGCACACTGAGTTAG -3'
(R):5'- ACACAACTTGGCCCTTCTCTTGTAG -3'

Posted On

2022-04-18