Mutagenetix > Incidental Mutation

Incidental Mutation 'R0992:Dna2'

97785

Institutional Source

Beutler Lab

Gene Symbol

Dna2

Ensembl Gene

ENSMUSG00000036875

Gene Name

DNA replication helicase/nuclease 2

Synonyms

Dna2l, E130315B21Rik

MMRRC Submission

039112-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0992 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62782805-62809964 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 62784966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 28 (R28W)

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: R28W

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000090119
Gene: ENSMUSG00000036875
AA Change: R28W

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: R28W

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000115750
Gene: ENSMUSG00000036875
AA Change: R28W

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.4%

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,102,510 (GRCm39)	T905A	probably damaging	Het
Arhgap20	A	G	9: 51,728,086 (GRCm39)	R100G	probably damaging	Het
Bsn	G	A	9: 107,991,553 (GRCm39)	R1400*	probably null	Het
Clstn2	A	G	9: 97,327,765 (GRCm39)	S948P	probably benign	Het
Col15a1	G	A	4: 47,300,491 (GRCm39)	V1029M	probably damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Disc1	T	C	8: 125,814,781 (GRCm39)	I215T	probably damaging	Het
Dst	A	G	1: 34,238,617 (GRCm39)	N3773S	probably damaging	Het
Gdap1	A	G	1: 17,217,329 (GRCm39)	Y96C	probably damaging	Het
Glipr1l1	A	G	10: 111,898,230 (GRCm39)	R112G	probably benign	Het
Gria4	A	G	9: 4,795,238 (GRCm39)	S13P	probably benign	Het
Noxred1	T	C	12: 87,271,000 (GRCm39)	N207S	probably benign	Het
Pom121l2	A	T	13: 22,166,929 (GRCm39)	Q400L	probably benign	Het
Sla2	T	C	2: 156,716,392 (GRCm39)	E243G	probably damaging	Het
Srpk2	A	G	5: 23,750,541 (GRCm39)	I54T	probably damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Trim15	C	T	17: 37,175,903 (GRCm39)	V215M	probably damaging	Het
Uchl3	T	C	14: 101,905,969 (GRCm39)	I144T	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
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
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'- AGTGGTTCATCGTGTCCAGCTTC -3'
(R):5'- TGCACAGAACTTCGTGCTCTCG -3'

Sequencing Primer
(F):5'- ccaccacactcagacacc -3'
(R):5'- TCGTGCTCTCGGTCCTG -3'

Posted On

2014-01-05