Mutagenetix > Incidental Mutations

Incidental Mutation 'R7029:Dna2'

546185

Institutional Source

Beutler Lab

Gene Symbol

Dna2

Ensembl Gene

ENSMUSG00000036875

Gene Name

DNA replication helicase/nuclease 2

Synonyms

E130315B21Rik, Dna2l

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7029 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62947026-62974185 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62963994 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 726 (S726P)

Ref Sequence

ENSEMBL: ENSMUSP00000090119 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000092462
AA Change: S726P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000090119
Gene: ENSMUSG00000036875
AA Change: S726P

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

possibly damaging
Transcript: ENSMUST00000131422
AA Change: S726P

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115750
Gene: ENSMUSG00000036875
AA Change: S726P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,952,343	Q271R	probably benign	Het
Abhd4	T	A	14: 54,262,707	W63R	probably damaging	Het
Adcy5	A	G	16: 35,299,648	M1176V	probably null	Het
Bach1	G	A	16: 87,719,291	R240Q	probably benign	Het
Brox	G	A	1: 183,284,186	P206L	possibly damaging	Het
Def6	A	G	17: 28,225,969	K447R	probably benign	Het
Ell	G	A	8: 70,579,229	V15I	probably damaging	Het
Epha3	T	A	16: 63,773,335	D130V	probably benign	Het
Fam189a1	T	A	7: 64,759,327	T440S	probably benign	Het
Gm16486	G	T	8: 70,708,862	V235L	possibly damaging	Het
Gys1	A	G	7: 45,439,584	T200A	possibly damaging	Het
Habp4	A	T	13: 64,162,125	H47L	probably benign	Het
Kcnj10	C	A	1: 172,368,996	R26S	probably benign	Het
Klhl1	T	A	14: 96,518,196	D41V	probably benign	Het
Lyn	A	G	4: 3,782,996	T410A	probably damaging	Het
Mga	A	G	2: 119,923,550	T847A	probably damaging	Het
Mrgpra3	G	T	7: 47,589,542	T212N	probably benign	Het
Myh4	T	C	11: 67,246,425	F491L	probably benign	Het
Neurl4	T	A	11: 69,910,736	I1206N	probably damaging	Het
Nov	A	G	15: 54,747,775	D102G	possibly damaging	Het
Pcdhb15	T	A	18: 37,475,568	W618R	possibly damaging	Het
Pomc	A	G	12: 3,960,146	H129R	probably damaging	Het
Ppm1l	C	A	3: 69,553,066	H325Q	probably benign	Het
Psme4	A	G	11: 30,772,474		probably benign	Het
Reep2	A	G	18: 34,845,289	I74V	probably null	Het
Robo2	T	G	16: 73,948,337	E850A	probably damaging	Het
Scrn2	T	A	11: 97,030,436		probably benign	Het
Sfpq	G	A	4: 127,029,882	R673K	probably benign	Het
Sh2d3c	T	C	2: 32,754,569	*703R	probably null	Het
Spp1	A	G	5: 104,439,301	M85V	probably benign	Het
Srebf1	T	C	11: 60,206,984	E98G	probably damaging	Het
Srrm4	T	A	5: 116,444,792		probably benign	Het
Ticam1	A	T	17: 56,271,154	S314T	possibly damaging	Het
Tie1	T	C	4: 118,484,626	I209V	possibly damaging	Het
Vapa	G	A	17: 65,582,591	R194*	probably null	Het
Vcan	C	T	13: 89,690,241	D2395N	probably damaging	Het
Whamm	A	G	7: 81,591,826	H295R	probably benign	Het
Zdhhc14	A	G	17: 5,647,911	Y85C	probably damaging	Het
Zfp35	T	A	18: 24,003,526	F309Y	probably damaging	Het
Zfp423	C	A	8: 87,688,066	C1187F	probably damaging	Het
Zfp874b	T	C	13: 67,474,273	Y302C	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
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
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'- CCCATTTCTAGGTGAGGATCCTC -3'
(R):5'- TGGTCTAGGACATAGGTGACAG -3'

Sequencing Primer
(F):5'- TAGGTGAGGATCCTCTCTGCC -3'
(R):5'- AACAGATGGACTCCCTGGG -3'

Posted On

2019-05-13