Mutagenetix > Incidental Mutations

Incidental Mutation 'R1598:Dna2'

175961

Institutional Source

Beutler Lab

Gene Symbol

Dna2

Ensembl Gene

ENSMUSG00000036875

Gene Name

DNA replication helicase/nuclease 2

Synonyms

E130315B21Rik, Dna2l

MMRRC Submission

039635-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1598 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62947026-62974185 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62961657 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 604 (F604I)

Ref Sequence

ENSEMBL: ENSMUSP00000115750 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000092462
AA Change: F604I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000090119
Gene: ENSMUSG00000036875
AA Change: F604I

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 damaging
Transcript: ENSMUST00000131422
AA Change: F604I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115750
Gene: ENSMUSG00000036875
AA Change: F604I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137378

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139212

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.9%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	G	A	11: 80,364,012	Q328*	probably null	Het
Adamts1	G	A	16: 85,798,511	Q260*	probably null	Het
Add2	A	T	6: 86,098,646	Y259F	probably benign	Het
Bora	T	C	14: 99,068,404	V403A	probably benign	Het
Ccdc144b	C	T	3: 36,018,997	A379T	probably damaging	Het
Ccnl1	G	A	3: 65,946,770	R477W	probably damaging	Het
Cdc25a	CG	CGG	9: 109,879,893		probably null	Het
Cdr2l	T	C	11: 115,393,377	S180P	probably damaging	Het
Cep290	T	A	10: 100,549,329	L1889Q	probably damaging	Het
Ces4a	T	C	8: 105,142,821	V208A	probably damaging	Het
Col2a1	T	C	15: 97,979,250	D1049G	probably damaging	Het
Coro1a	A	T	7: 126,701,692	N154K	possibly damaging	Het
Cubn	T	A	2: 13,469,789	R401S	probably benign	Het
Cul7	A	T	17: 46,663,091	Q1434L	probably benign	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dars	G	T	1: 128,373,972	D308E	probably benign	Het
Dnah1	T	G	14: 31,301,262	I1033L	probably benign	Het
Dusp27	G	A	1: 166,110,259	T77I	probably benign	Het
Erlin1	T	C	19: 44,047,673	E206G	probably damaging	Het
Esrp2	T	A	8: 106,133,273	E345D	probably damaging	Het
Foxa1	T	C	12: 57,542,687	D249G	possibly damaging	Het
Ghsr	C	A	3: 27,372,277	L161M	probably benign	Het
Gm436	T	A	4: 144,670,424	K246I	possibly damaging	Het
Gpr155	C	A	2: 73,370,090	V358F	probably damaging	Het
H2-Eb2	A	T	17: 34,334,374	N178I	probably damaging	Het
Hydin	T	A	8: 110,410,674	I703N	possibly damaging	Het
Kctd15	A	G	7: 34,641,992	V170A	probably damaging	Het
Klhl31	A	T	9: 77,651,016	Y338F	possibly damaging	Het
Krt5	C	T	15: 101,712,441	A124T	probably benign	Het
Krt72	T	A	15: 101,780,253	I331F	probably benign	Het
Lrp1b	T	A	2: 41,511,478	D388V	probably damaging	Het
Ly9	A	G	1: 171,596,507	V382A	probably benign	Het
Mon2	T	C	10: 123,016,396	Y1024C	probably damaging	Het
Myh14	A	G	7: 44,638,394	F572L	probably damaging	Het
Myh3	A	T	11: 67,093,171	D987V	probably damaging	Het
Ndn	C	T	7: 62,348,508	P34L	probably benign	Het
Nphp4	A	G	4: 152,562,090	T1360A	probably benign	Het
Olfr1034	C	T	2: 86,047,313	T277I	probably damaging	Het
Olfr1151	T	A	2: 87,857,751	I192K	probably benign	Het
Olfr1299	G	T	2: 111,664,754	S176I	probably damaging	Het
Oog4	A	G	4: 143,438,001	L320P	probably damaging	Het
Pcnx2	T	C	8: 125,772,086	N1558S	probably benign	Het
Pde10a	A	G	17: 8,929,144	E147G	probably damaging	Het
Pgbd5	T	A	8: 124,374,287	H410L	probably benign	Het
Plce1	A	C	19: 38,720,996	D1098A	probably damaging	Het
Psg25	G	A	7: 18,532,003	Q16*	probably null	Het
Psmd9	T	A	5: 123,241,917	V133E	probably damaging	Het
Rabgap1	C	T	2: 37,561,899	S937F	probably damaging	Het
Rbck1	A	G	2: 152,323,170		probably null	Het
Rprd2	C	G	3: 95,818,739		probably benign	Het
Rrs1	A	G	1: 9,545,912	N130S	probably benign	Het
Scmh1	A	T	4: 120,515,130	I377F	possibly damaging	Het
Skor1	G	T	9: 63,146,004	R228S	probably damaging	Het
Slc2a4	A	G	11: 69,945,018	V335A	probably benign	Het
Slc4a9	G	A	18: 36,528,371	W62*	probably null	Het
Taar9	G	T	10: 24,109,407	A43D	possibly damaging	Het
Tns4	T	C	11: 99,070,417	Y645C	probably damaging	Het
Tpcn2	G	T	7: 145,277,220	Y129*	probably null	Het
Trpm3	T	C	19: 22,733,024	S278P	possibly damaging	Het
Ttc3	T	C	16: 94,422,297	W615R	probably damaging	Het
Ttll5	T	C	12: 85,863,598	V207A	probably damaging	Het
Ubr7	G	T	12: 102,769,894	M358I	probably damaging	Het
Urb1	C	A	16: 90,777,440	V918F	possibly damaging	Het
Vmn2r51	G	A	7: 10,105,505	T52I	probably benign	Het
Vmn2r95	A	T	17: 18,452,313	I771F	probably benign	Het
Wfdc16	T	C	2: 164,635,430	S107G	probably benign	Het
Zmym2	A	G	14: 56,902,769	T22A	possibly damaging	Het
Zmym2	G	A	14: 56,914,067	G470R	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
R1184:Dna2	UTSW	10	62959198	missense	probably benign	0.00
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
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'- AGGATGACCTGGAACATGGCTGAC -3'
(R):5'- AACTGCTAAGCCACTGCACACTTG -3'

Sequencing Primer
(F):5'- CAACGGTGTTTCGATTAGACC -3'
(R):5'- GCCACTGCACACTTGGTATAG -3'

Posted On

2014-04-24