Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00329:Dna2'

4713

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dna2

Ensembl Gene

ENSMUSG00000036875

Gene Name

DNA replication helicase/nuclease 2

Synonyms

Dna2l, E130315B21Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00329

Quality Score

Status

Chromosome

Chromosomal Location

62782805-62809964 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62802222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 811 (F811S)

Ref Sequence

ENSEMBL: ENSMUSP00000115750 (fasta)

Gene Model

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

AlphaFold

Q6ZQJ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000092462
AA Change: F811S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000090119
Gene: ENSMUSG00000036875
AA Change: F811S

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: F811S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115750
Gene: ENSMUSG00000036875
AA Change: F811S

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

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	A	G	3: 36,123,911 (GRCm39)	N72S	probably benign	Het
Aopep	T	A	13: 63,338,977 (GRCm39)	I623N	probably damaging	Het
Apba3	C	T	10: 81,108,901 (GRCm39)	P555S	probably damaging	Het
Arcn1	C	A	9: 44,670,333 (GRCm39)	E98*	probably null	Het
Cimip2b	G	A	4: 43,428,158 (GRCm39)	R100W	possibly damaging	Het
Col28a1	G	T	6: 8,175,425 (GRCm39)	T141K	probably damaging	Het
Dusp19	T	A	2: 80,461,269 (GRCm39)	I186K	probably damaging	Het
Dync2li1	A	G	17: 84,952,154 (GRCm39)	D195G	possibly damaging	Het
Epm2aip1	T	C	9: 111,101,855 (GRCm39)	V276A	possibly damaging	Het
Extl3	T	C	14: 65,313,070 (GRCm39)	E704G	probably benign	Het
Gle1	T	C	2: 29,829,301 (GRCm39)		probably benign	Het
Gm2178	C	A	14: 26,235,767 (GRCm39)		probably benign	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Herc2	T	A	7: 55,774,047 (GRCm39)	L1166Q	probably damaging	Het
Hsd11b2	A	G	8: 106,249,759 (GRCm39)	E290G	probably benign	Het
Inpp5d	T	C	1: 87,595,725 (GRCm39)	V157A	probably benign	Het
Krt72	T	A	15: 101,693,434 (GRCm39)	Q160L	probably damaging	Het
Lrrd1	A	G	5: 3,900,081 (GRCm39)	K129E	possibly damaging	Het
Mapk13	A	G	17: 28,995,379 (GRCm39)	Y200C	probably damaging	Het
Mme	G	A	3: 63,287,749 (GRCm39)	W750*	probably null	Het
Nat8l	C	T	5: 34,155,761 (GRCm39)	P139L	probably damaging	Het
Nrtn	C	A	17: 57,058,569 (GRCm39)	R144L	probably benign	Het
Or52h9	C	A	7: 104,202,299 (GRCm39)	P58T	probably benign	Het
Pate12	G	A	9: 36,344,198 (GRCm39)		probably benign	Het
Pdgfa	T	A	5: 138,974,216 (GRCm39)		probably benign	Het
Rtp3	A	G	9: 110,815,666 (GRCm39)	V233A	probably benign	Het
Syne2	A	G	12: 76,078,474 (GRCm39)		probably benign	Het
Trappc10	A	T	10: 78,039,711 (GRCm39)		probably benign	Het
Usp24	A	G	4: 106,216,288 (GRCm39)	T380A	probably benign	Het
Vmn1r21	A	T	6: 57,821,049 (GRCm39)	S132T	probably benign	Het

Other mutations in Dna2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Dna2	APN	10	62,786,602 (GRCm39)	missense	probably benign	0.13
IGL01511:Dna2	APN	10	62,791,093 (GRCm39)	missense	possibly damaging	0.69
IGL01600:Dna2	APN	10	62,786,585 (GRCm39)	missense	probably damaging	0.96
IGL02016:Dna2	APN	10	62,796,191 (GRCm39)	missense	probably benign	0.00
IGL02049:Dna2	APN	10	62,792,815 (GRCm39)	missense	probably damaging	0.99
IGL02069:Dna2	APN	10	62,794,773 (GRCm39)	missense	probably benign	0.00
IGL02438:Dna2	APN	10	62,792,841 (GRCm39)	missense	possibly damaging	0.92
IGL02743:Dna2	APN	10	62,792,821 (GRCm39)	missense	possibly damaging	0.90
IGL02800:Dna2	APN	10	62,797,504 (GRCm39)	critical splice donor site	probably null
IGL02936:Dna2	APN	10	62,792,879 (GRCm39)	missense	probably damaging	1.00
supercoiled	UTSW	10	62,807,772 (GRCm39)	splice site	probably null
R0308:Dna2	UTSW	10	62,792,753 (GRCm39)	missense	probably damaging	0.98
R0528:Dna2	UTSW	10	62,793,910 (GRCm39)	missense	probably benign	0.00
R0669:Dna2	UTSW	10	62,792,768 (GRCm39)	missense	probably damaging	1.00
R0697:Dna2	UTSW	10	62,785,120 (GRCm39)	missense	probably benign	0.01
R0831:Dna2	UTSW	10	62,795,108 (GRCm39)	nonsense	probably null
R0839:Dna2	UTSW	10	62,805,561 (GRCm39)	missense	probably damaging	1.00
R0991:Dna2	UTSW	10	62,784,966 (GRCm39)	missense	probably benign	0.08
R0992:Dna2	UTSW	10	62,784,966 (GRCm39)	missense	probably benign	0.08
R1054:Dna2	UTSW	10	62,799,602 (GRCm39)	missense	possibly damaging	0.84
R1082:Dna2	UTSW	10	62,784,966 (GRCm39)	missense	probably benign	0.08
R1084:Dna2	UTSW	10	62,784,966 (GRCm39)	missense	probably benign	0.08
R1184:Dna2	UTSW	10	62,794,977 (GRCm39)	missense	probably benign	0.00
R1193:Dna2	UTSW	10	62,784,966 (GRCm39)	missense	probably benign	0.08
R1196:Dna2	UTSW	10	62,784,966 (GRCm39)	missense	probably benign	0.08
R1226:Dna2	UTSW	10	62,796,203 (GRCm39)	missense	possibly damaging	0.88
R1561:Dna2	UTSW	10	62,784,966 (GRCm39)	missense	probably benign	0.08
R1562:Dna2	UTSW	10	62,784,966 (GRCm39)	missense	probably benign	0.08
R1566:Dna2	UTSW	10	62,784,966 (GRCm39)	missense	probably benign	0.08
R1568:Dna2	UTSW	10	62,784,966 (GRCm39)	missense	probably benign	0.08
R1598:Dna2	UTSW	10	62,797,436 (GRCm39)	missense	probably damaging	0.99
R1768:Dna2	UTSW	10	62,792,863 (GRCm39)	missense	probably benign	0.01
R2075:Dna2	UTSW	10	62,805,601 (GRCm39)	missense	probably benign	0.20
R3125:Dna2	UTSW	10	62,784,981 (GRCm39)	missense	possibly damaging	0.66
R3763:Dna2	UTSW	10	62,802,576 (GRCm39)	missense	probably damaging	1.00
R4059:Dna2	UTSW	10	62,792,768 (GRCm39)	missense	probably damaging	1.00
R5002:Dna2	UTSW	10	62,786,621 (GRCm39)	missense	probably damaging	1.00
R5160:Dna2	UTSW	10	62,782,933 (GRCm39)	missense	probably benign
R5567:Dna2	UTSW	10	62,802,452 (GRCm39)	missense	possibly damaging	0.89
R5775:Dna2	UTSW	10	62,785,021 (GRCm39)	missense	possibly damaging	0.94
R5984:Dna2	UTSW	10	62,798,285 (GRCm39)	critical splice donor site	probably null
R6604:Dna2	UTSW	10	62,803,522 (GRCm39)	critical splice donor site	probably null
R6702:Dna2	UTSW	10	62,809,073 (GRCm39)	missense	possibly damaging	0.89
R6703:Dna2	UTSW	10	62,809,073 (GRCm39)	missense	possibly damaging	0.89
R6812:Dna2	UTSW	10	62,795,120 (GRCm39)	missense	probably benign	0.18
R6820:Dna2	UTSW	10	62,800,683 (GRCm39)	missense	possibly damaging	0.93
R6919:Dna2	UTSW	10	62,792,782 (GRCm39)	missense	probably damaging	1.00
R7029:Dna2	UTSW	10	62,799,773 (GRCm39)	missense	probably damaging	1.00
R7082:Dna2	UTSW	10	62,790,096 (GRCm39)	missense	possibly damaging	0.71
R7508:Dna2	UTSW	10	62,807,772 (GRCm39)	splice site	probably null
R7513:Dna2	UTSW	10	62,807,747 (GRCm39)	missense	probably benign	0.00
R7605:Dna2	UTSW	10	62,796,054 (GRCm39)	missense	probably benign	0.02
R7742:Dna2	UTSW	10	62,809,073 (GRCm39)	missense	probably benign	0.31
R7868:Dna2	UTSW	10	62,805,643 (GRCm39)	missense	probably benign	0.00
R7983:Dna2	UTSW	10	62,791,173 (GRCm39)	missense	probably benign	0.04
R8498:Dna2	UTSW	10	62,809,094 (GRCm39)	missense	probably benign	0.12
R8508:Dna2	UTSW	10	62,786,673 (GRCm39)	missense	probably damaging	1.00
R9451:Dna2	UTSW	10	62,790,072 (GRCm39)	missense	probably benign	0.00
R9457:Dna2	UTSW	10	62,786,572 (GRCm39)	missense	probably benign	0.02
R9571:Dna2	UTSW	10	62,800,740 (GRCm39)	missense	probably damaging	1.00
R9772:Dna2	UTSW	10	62,786,522 (GRCm39)	missense	probably benign	0.13
RF007:Dna2	UTSW	10	62,802,474 (GRCm39)	missense	probably damaging	0.99
Z1177:Dna2	UTSW	10	62,798,203 (GRCm39)	missense	probably benign	0.03

Posted On

2012-04-20