Mutagenetix > Incidental Mutation

Incidental Mutation 'R0697:Dna2'

63900

Institutional Source

Beutler Lab

Gene Symbol

Dna2

Ensembl Gene

ENSMUSG00000036875

Gene Name

DNA replication helicase/nuclease 2

Synonyms

Dna2l, E130315B21Rik

MMRRC Submission

038881-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0697 (G1)

Quality Score

174

Status

Not validated

Chromosome

Chromosomal Location

62782805-62809964 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62785120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 79 (V79A)

Ref Sequence

ENSEMBL: ENSMUSP00000115750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044977] [ENSMUST00000092462] [ENSMUST00000131422] [ENSMUST00000144459]

AlphaFold

Q6ZQJ5

Predicted Effect

probably benign
Transcript: ENSMUST00000044977

SMART Domains

Protein: ENSMUSP00000043370
Gene: ENSMUSG00000071253

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
Pfam:Mito_carr	32	125	1.7e-25	PFAM
Pfam:Mito_carr	127	220	2.3e-26	PFAM
Pfam:Mito_carr	237	332	8.6e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000092462
AA Change: V79A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000090119
Gene: ENSMUSG00000036875
AA Change: V79A

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: V79A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000115750
Gene: ENSMUSG00000036875
AA Change: V79A

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: ENSMUST00000131715

Predicted Effect

probably benign
Transcript: ENSMUST00000144459

SMART Domains

Protein: ENSMUSP00000114510
Gene: ENSMUSG00000071253

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
Pfam:Mito_carr	32	125	9.4e-28	PFAM
Pfam:Mito_carr	126	223	4.6e-25	PFAM
Pfam:Mito_carr	240	322	2.3e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152350

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.4%

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	C	A	19: 31,888,567 (GRCm39)	A99E	probably damaging	Het
Aig1	T	C	10: 13,705,069 (GRCm39)	N72S	probably benign	Het
Atad2	T	C	15: 57,968,939 (GRCm39)	I857M	possibly damaging	Het
Ceacam15	A	C	7: 16,407,445 (GRCm39)	L24*	probably null	Het
Cpsf2	A	G	12: 101,949,443 (GRCm39)	H53R	probably benign	Het
Crh	C	A	3: 19,748,241 (GRCm39)	G134C	probably damaging	Het
Cyp2g1	A	T	7: 26,514,152 (GRCm39)	K253*	probably null	Het
Dsc2	A	G	18: 20,174,509 (GRCm39)	V549A	probably damaging	Het
Etl4	G	T	2: 20,748,672 (GRCm39)	V135F	probably damaging	Het
Frk	A	G	10: 34,483,833 (GRCm39)	H398R	probably benign	Het
Gfra1	A	C	19: 58,258,555 (GRCm39)	S271A	probably benign	Het
Htr1b	T	C	9: 81,513,516 (GRCm39)	I364V	possibly damaging	Het
Kcnh5	A	T	12: 75,023,305 (GRCm39)	C588S	possibly damaging	Het
Kif13a	G	A	13: 47,001,813 (GRCm39)	T70I	probably benign	Het
Klra6	T	C	6: 129,993,687 (GRCm39)	I195V	probably benign	Het
Nras	T	C	3: 102,967,616 (GRCm39)	Y71H	possibly damaging	Het
Sirt5	T	C	13: 43,539,052 (GRCm39)	F274L	probably damaging	Het
Synj1	T	C	16: 90,757,503 (GRCm39)	T882A	probably benign	Het
Vmn1r84	A	T	7: 12,096,690 (GRCm39)	M1K	probably null	Het
Zfhx4	A	T	3: 5,466,793 (GRCm39)	E2317V	probably damaging	Het
Zfp345	A	T	2: 150,314,829 (GRCm39)	I236K	probably benign	Het

Other mutations in Dna2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00329:Dna2	APN	10	62,802,222 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TATCTCGCGGCTCTGATAGGATGG -3'
(R):5'- AGCTTAGTTTGCCTGGCACACTC -3'

Sequencing Primer
(F):5'- CGGCTCTGATAGGATGGTTTCTATG -3'
(R):5'- tgtcctccagacgctacc -3'

Posted On

2013-07-30