Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01511:Dna2'

89208

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dna2

Ensembl Gene

ENSMUSG00000036875

Gene Name

DNA replication helicase/nuclease 2

Synonyms

E130315B21Rik, Dna2l

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01511

Quality Score

Status

Chromosome

Chromosomal Location

62947026-62974185 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 62955314 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 197 (M197I)

Ref Sequence

ENSEMBL: ENSMUSP00000115750 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092462
AA Change: M197I

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000090119
Gene: ENSMUSG00000036875
AA Change: M197I

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

possibly damaging
Transcript: ENSMUST00000131422
AA Change: M197I

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000115750
Gene: ENSMUSG00000036875
AA Change: M197I

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

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,244,310	D216E	probably benign	Het
Abcc4	C	A	14: 118,599,341	L669F	probably benign	Het
Adam29	C	T	8: 55,871,421	G666D	probably damaging	Het
Adat2	T	G	10: 13,560,238	M109R	probably null	Het
Atf3	T	A	1: 191,171,496	T178S	probably benign	Het
Birc6	T	A	17: 74,627,003	Y2522*	probably null	Het
Ccr8	G	A	9: 120,094,625	G269R	probably damaging	Het
Ces1a	G	T	8: 93,045,098	P24T	probably damaging	Het
Chrna4	C	T	2: 181,028,668	V432I	probably benign	Het
Commd8	A	G	5: 72,165,379	V65A	probably benign	Het
Cyp2j13	A	G	4: 96,077,315	F52L	possibly damaging	Het
Desi1	T	A	15: 82,002,588	K45*	probably null	Het
Dmbt1	T	A	7: 131,116,728	M1552K	possibly damaging	Het
Dnah7a	A	C	1: 53,419,595	L3795V	probably damaging	Het
Fam221b	T	C	4: 43,660,135		probably null	Het
Fbxw18	A	T	9: 109,688,821	S366T	possibly damaging	Het
Fzd8	A	G	18: 9,213,293	Y125C	unknown	Het
Gcsam	T	C	16: 45,615,952	Y11H	probably damaging	Het
Gucy2f	G	T	X: 142,161,734	D410E	probably damaging	Het
Hdac3	C	T	18: 37,952,595	A53T	probably benign	Het
Lamp2	A	G	X: 38,431,875	L244P	probably damaging	Het
Lrrk1	A	T	7: 66,265,450	F1630Y	possibly damaging	Het
M1ap	C	A	6: 83,028,412	D434E	probably benign	Het
Mcmbp	A	G	7: 128,707,164	Y378H	probably damaging	Het
Mvb12a	T	A	8: 71,545,302	V120E	probably damaging	Het
Nbeal2	A	C	9: 110,629,234	W2063G	probably damaging	Het
Neto1	A	C	18: 86,395,908	H9P	possibly damaging	Het
Nmu	C	T	5: 76,340,821	V126M	probably damaging	Het
Odf2	T	C	2: 29,914,309		probably benign	Het
Olfr1387	A	G	11: 49,460,216	E179G	probably damaging	Het
Pdzrn3	T	C	6: 101,153,256	H533R	possibly damaging	Het
Pikfyve	G	T	1: 65,258,869	E1586*	probably null	Het
Plcb3	C	A	19: 6,955,843	R970L	probably damaging	Het
Plxna3	A	G	X: 74,335,308	E686G	probably damaging	Het
Polrmt	T	A	10: 79,740,151	Y586F	probably benign	Het
Ppt1	T	A	4: 122,854,425	F225I	probably damaging	Het
Prcc	T	G	3: 87,872,241	D162A	probably damaging	Het
Ripor1	T	C	8: 105,619,930		probably benign	Het
Rnaseh1	A	G	12: 28,659,009	H263R	probably damaging	Het
Rnf19b	T	A	4: 129,080,418	S490R	probably damaging	Het
Slc15a2	T	A	16: 36,784,726	T23S	probably damaging	Het
Slc17a2	T	C	13: 23,819,138		probably null	Het
Slc35f4	T	C	14: 49,298,877	M434V	probably benign	Het
Slc52a3	C	T	2: 152,004,644	T175I	probably benign	Het
Slc5a2	C	T	7: 128,270,622	T409M	probably benign	Het
Tbc1d24	A	G	17: 24,181,918	S108P	probably benign	Het
Thnsl2	T	G	6: 71,139,793	Q125P	probably benign	Het
Ttc13	T	C	8: 124,676,371	D672G	probably damaging	Het
Ttn	G	T	2: 76,753,745	H14013N	possibly damaging	Het
Unc5a	T	C	13: 55,004,816	F792L	probably damaging	Het
Vac14	T	C	8: 110,712,798	V669A	possibly damaging	Het
Vmn1r13	A	T	6: 57,210,329	M158L	probably benign	Het
Vmn1r220	A	T	13: 23,184,214	V104D	probably damaging	Het
Wdr78	T	C	4: 103,048,361	D741G	possibly damaging	Het
Zfp738	A	T	13: 67,683,401		probably null	Het
Zscan5b	A	C	7: 6,231,422	H149P	probably benign	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
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
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

Posted On

2013-12-03