Mutagenetix > Incidental Mutations

Incidental Mutation 'R1184:Dna2'

101942

Institutional Source

Beutler Lab

Gene Symbol

Dna2

Ensembl Gene

ENSMUSG00000036875

Gene Name

DNA replication helicase/nuclease 2

Synonyms

E130315B21Rik, Dna2l

MMRRC Submission

039256-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1184 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62947026-62974185 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62959198 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 416 (D416G)

Ref Sequence

ENSEMBL: ENSMUSP00000115750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092462] [ENSMUST00000131422]

Predicted Effect

probably benign
Transcript: ENSMUST00000092462
AA Change: D416G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000090119
Gene: ENSMUSG00000036875
AA Change: D416G

Domain	Start	End	E-Value	Type
low complexity region	4	15	N/A	INTRINSIC
Pfam:Dna2	68	284	4.7e-75	PFAM
Pfam:PDDEXK_1	125	404	4.3e-13	PFAM
Pfam:AAA_11	626	799	6.7e-42	PFAM
Pfam:AAA_30	626	848	1.1e-15	PFAM
Pfam:AAA_19	633	709	5.7e-9	PFAM
Pfam:AAA_12	806	944	4.1e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129785

Predicted Effect

probably benign
Transcript: ENSMUST00000131422
AA Change: D416G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000115750
Gene: ENSMUSG00000036875
AA Change: D416G

Domain	Start	End	E-Value	Type
low complexity region	4	15	N/A	INTRINSIC
Pfam:Dna2	72	283	8.2e-65	PFAM
Pfam:PDDEXK_1	125	404	3e-11	PFAM
Pfam:AAA_11	626	732	7.8e-17	PFAM
Pfam:AAA_30	626	848	1.3e-15	PFAM
Pfam:AAA_19	633	709	6.2e-9	PFAM
Pfam:AAA_11	722	799	1.2e-21	PFAM
Pfam:AAA_12	806	1020	5.3e-57	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.5%

Validation Efficiency

100% (83/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DNA2/NAM7 helicase family. The encoded protein is a conserved helicase/nuclease involved in the maintenance of mitochondrial and nuclear DNA stability. Mutations in this gene are associated with autosomal dominant progressive external ophthalmoplegia-6 (PEOA6) and Seckel syndrome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality before E7.5. Mice heterozygous for the allele exhibit shortened telomeres, chromosome segregation errors and increased tumor incidence associated with aneuploidy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,160,912	R7G	probably damaging	Het
2410089E03Rik	G	T	15: 8,216,487	V1448L	probably benign	Het
Ahdc1	T	A	4: 133,065,396	M1316K	probably benign	Het
Alkal1	A	G	1: 6,389,488	Y96C	probably damaging	Het
Arhgap17	T	C	7: 123,314,690	Y199C	probably damaging	Het
Bmp2	T	C	2: 133,561,468	V313A	probably damaging	Het
Cacna1b	C	T	2: 24,687,745		probably null	Het
Cars	T	C	7: 143,587,139	T141A	probably damaging	Het
Ccdc57	A	G	11: 120,873,811		probably benign	Het
Cenpe	T	C	3: 135,264,422		probably null	Het
Chadl	T	C	15: 81,693,057	S198G	probably benign	Het
Chd6	G	C	2: 161,030,802	P286R	probably damaging	Het
Clec4a4	G	T	6: 123,012,712	W104L	probably benign	Het
Coq4	G	A	2: 29,788,334		probably benign	Het
Crtc2	T	A	3: 90,262,633	Y445*	probably null	Het
Dapk1	A	T	13: 60,696,298	I44F	probably damaging	Het
Dcbld2	T	A	16: 58,449,841		probably null	Het
Dcun1d4	T	C	5: 73,511,112		probably benign	Het
Depdc7	A	T	2: 104,730,178		probably benign	Het
Dnah2	A	T	11: 69,499,190	I743N	probably damaging	Het
Dnah9	A	G	11: 66,084,612		probably null	Het
Dock3	A	G	9: 106,969,800	S877P	probably damaging	Het
Eif3l	T	A	15: 79,075,766		probably null	Het
Epha5	A	T	5: 84,071,275		probably null	Het
Ffar3	T	A	7: 30,855,104	N264Y	probably damaging	Het
Fyb	A	T	15: 6,638,900	I525F	probably damaging	Het
Fyco1	A	G	9: 123,819,153	F1239L	probably damaging	Het
Gcdh	T	C	8: 84,893,442		probably benign	Het
Gk5	T	C	9: 96,150,420		probably benign	Het
Gm21188	A	T	13: 120,035,131	N67K	probably benign	Het
Gm8979	A	G	7: 106,083,952	V32A	probably benign	Het
Grm1	A	G	10: 10,720,034	Y617H	probably benign	Het
Hhipl2	A	T	1: 183,425,134	I131L	probably damaging	Het
Larp4b	T	C	13: 9,166,309		probably benign	Het
Lrig2	T	A	3: 104,490,911	I301F	possibly damaging	Het
Man2a2	A	T	7: 80,362,965	I600N	possibly damaging	Het
Mylk2	G	C	2: 152,913,741		probably null	Het
Myo6	C	T	9: 80,286,382	Q870*	probably null	Het
Napg	T	G	18: 62,994,338	H204Q	probably benign	Het
Neb	G	A	2: 52,263,947	T2384M	probably damaging	Het
Nek10	A	G	14: 14,931,325		probably benign	Het
Olfr1216	A	G	2: 89,013,713	M117T	probably damaging	Het
Olfr1440	T	C	19: 12,394,857	V198A	probably benign	Het
Olfr1462	T	G	19: 13,191,375	L236R	probably damaging	Het
Olfr748	A	C	14: 50,710,614	T95P	probably benign	Het
Pclo	A	G	5: 14,522,262	T554A	unknown	Het
Perm1	C	A	4: 156,217,314	T105K	probably damaging	Het
Pik3r1	T	C	13: 101,686,358		probably null	Het
Pld5	A	G	1: 176,044,896	I225T	probably damaging	Het
Plxnc1	T	C	10: 94,831,333		probably benign	Het
Ptpn12	A	C	5: 20,998,356	S475A	possibly damaging	Het
Ptprt	A	G	2: 161,927,772	V391A	possibly damaging	Het
Rac2	T	G	15: 78,565,945	D65A	possibly damaging	Het
Rgl3	A	G	9: 21,977,380		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Sebox	A	T	11: 78,503,849	T47S	probably damaging	Het
Sema4b	A	G	7: 80,224,640	T593A	probably benign	Het
Serpina3a	C	T	12: 104,116,528	Q187*	probably null	Het
Serpinb1a	T	C	13: 32,843,216	K248E	probably benign	Het
Serpinb9e	A	C	13: 33,259,774	E259A	probably benign	Het
Slc30a3	T	A	5: 31,090,166	H44L	probably damaging	Het
Smarca2	T	C	19: 26,770,933		probably benign	Het
Snrnp200	T	A	2: 127,236,817	C1801S	probably damaging	Het
Soat1	G	A	1: 156,442,374		probably null	Het
Spink6	T	C	18: 44,071,538		probably benign	Het
Spta1	G	A	1: 174,184,690	R354H	probably damaging	Het
Tbck	T	A	3: 132,837,972	H861Q	probably benign	Het
Tgfbrap1	G	A	1: 43,049,696	T849M	possibly damaging	Het
Tnrc6a	A	G	7: 123,170,340	N451S	possibly damaging	Het
Trim36	T	C	18: 46,196,251	T41A	probably damaging	Het
Trmt112	C	A	19: 6,910,353		probably benign	Het
Trpc4ap	A	G	2: 155,645,070		probably benign	Het
Ttll7	C	T	3: 146,939,991	P535S	probably damaging	Het
Ttn	A	T	2: 76,861,432		probably benign	Het
Txndc11	C	T	16: 11,128,500	R149Q	probably benign	Het
Ubr4	C	T	4: 139,437,198		probably benign	Het
Usp30	G	A	5: 114,103,827		probably null	Het
Vmn1r195	A	G	13: 22,279,011	Y217C	probably damaging	Het
Vps33b	T	A	7: 80,282,486	D135E	probably benign	Het
Vrk2	A	G	11: 26,483,331		probably benign	Het
Wdr81	G	T	11: 75,452,983	P486Q	probably damaging	Het
Zfp788	T	C	7: 41,648,326	Y129H	probably damaging	Het

Other mutations in Dna2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00329:Dna2	APN	10	62966443	missense	probably damaging	1.00
IGL00972:Dna2	APN	10	62950823	missense	probably benign	0.13
IGL01511:Dna2	APN	10	62955314	missense	possibly damaging	0.69
IGL01600:Dna2	APN	10	62950806	missense	probably damaging	0.96
IGL02016:Dna2	APN	10	62960412	missense	probably benign	0.00
IGL02049:Dna2	APN	10	62957036	missense	probably damaging	0.99
IGL02069:Dna2	APN	10	62958994	missense	probably benign	0.00
IGL02438:Dna2	APN	10	62957062	missense	possibly damaging	0.92
IGL02743:Dna2	APN	10	62957042	missense	possibly damaging	0.90
IGL02800:Dna2	APN	10	62961725	critical splice donor site	probably null
IGL02936:Dna2	APN	10	62957100	missense	probably damaging	1.00
supercoiled	UTSW	10	62971993	splice site	probably null
R0308:Dna2	UTSW	10	62956974	missense	probably damaging	0.98
R0528:Dna2	UTSW	10	62958131	missense	probably benign	0.00
R0669:Dna2	UTSW	10	62956989	missense	probably damaging	1.00
R0697:Dna2	UTSW	10	62949341	missense	probably benign	0.01
R0831:Dna2	UTSW	10	62959329	nonsense	probably null
R0839:Dna2	UTSW	10	62969782	missense	probably damaging	1.00
R0991:Dna2	UTSW	10	62949187	missense	probably benign	0.08
R0992:Dna2	UTSW	10	62949187	missense	probably benign	0.08
R1054:Dna2	UTSW	10	62963823	missense	possibly damaging	0.84
R1082:Dna2	UTSW	10	62949187	missense	probably benign	0.08
R1084:Dna2	UTSW	10	62949187	missense	probably benign	0.08
R1193:Dna2	UTSW	10	62949187	missense	probably benign	0.08
R1196:Dna2	UTSW	10	62949187	missense	probably benign	0.08
R1226:Dna2	UTSW	10	62960424	missense	possibly damaging	0.88
R1561:Dna2	UTSW	10	62949187	missense	probably benign	0.08
R1562:Dna2	UTSW	10	62949187	missense	probably benign	0.08
R1566:Dna2	UTSW	10	62949187	missense	probably benign	0.08
R1568:Dna2	UTSW	10	62949187	missense	probably benign	0.08
R1598:Dna2	UTSW	10	62961657	missense	probably damaging	0.99
R1768:Dna2	UTSW	10	62957084	missense	probably benign	0.01
R2075:Dna2	UTSW	10	62969822	missense	probably benign	0.20
R3125:Dna2	UTSW	10	62949202	missense	possibly damaging	0.66
R3763:Dna2	UTSW	10	62966797	missense	probably damaging	1.00
R4059:Dna2	UTSW	10	62956989	missense	probably damaging	1.00
R5002:Dna2	UTSW	10	62950842	missense	probably damaging	1.00
R5160:Dna2	UTSW	10	62947154	missense	probably benign
R5567:Dna2	UTSW	10	62966673	missense	possibly damaging	0.89
R5775:Dna2	UTSW	10	62949242	missense	possibly damaging	0.94
R5984:Dna2	UTSW	10	62962506	critical splice donor site	probably null
R6604:Dna2	UTSW	10	62967743	critical splice donor site	probably null
R6702:Dna2	UTSW	10	62973294	missense	possibly damaging	0.89
R6703:Dna2	UTSW	10	62973294	missense	possibly damaging	0.89
R6812:Dna2	UTSW	10	62959341	missense	probably benign	0.18
R6820:Dna2	UTSW	10	62964904	missense	possibly damaging	0.93
R6919:Dna2	UTSW	10	62957003	missense	probably damaging	1.00
R7029:Dna2	UTSW	10	62963994	missense	probably damaging	1.00
R7082:Dna2	UTSW	10	62954317	missense	possibly damaging	0.71
R7508:Dna2	UTSW	10	62971993	splice site	probably null
R7513:Dna2	UTSW	10	62971968	missense	probably benign	0.00
R7605:Dna2	UTSW	10	62960275	missense	probably benign	0.02
R7742:Dna2	UTSW	10	62973294	missense	probably benign	0.31
R7868:Dna2	UTSW	10	62969864	missense	probably benign	0.00
R7983:Dna2	UTSW	10	62955394	missense	probably benign	0.04
R8498:Dna2	UTSW	10	62973315	missense	probably benign	0.12
R8508:Dna2	UTSW	10	62950894	missense	probably damaging	1.00
RF007:Dna2	UTSW	10	62966695	missense	probably damaging	0.99
Z1177:Dna2	UTSW	10	62962424	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CCAGAACTGCTGAAGCTCAGGAAC -3'
(R):5'- CAGAGGCAGGCGTTAACCAGATAC -3'

Sequencing Primer
(F):5'- TGCCTTGCCACAGATAATCG -3'
(R):5'- CAGATACTCTGGTGAGTCTTCCG -3'

Posted On

2014-01-15