Mutagenetix > Incidental Mutations

Incidental Mutation 'R7868:Dna2'

607927

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 #

R7868 (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 62969864 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 960 (V960A)

Ref Sequence

ENSEMBL: ENSMUSP00000115750 (fasta)

Gene Model

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

Predicted Effect

silent
Transcript: ENSMUST00000092462

SMART Domains

Protein: ENSMUSP00000090119
Gene: ENSMUSG00000036875

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

probably benign
Transcript: ENSMUST00000131422
AA Change: V960A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000115750
Gene: ENSMUSG00000036875
AA Change: V960A

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: 99.9%
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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933415A04Rik	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	11: 43,587,430		probably null	Het
Acacb	A	G	5: 114,248,227	E2274G	probably benign	Het
Adam7	A	G	14: 68,532,641	I21T	possibly damaging	Het
Aldh3b3	C	T	19: 3,968,492	R57*	probably null	Het
Arhgap22	T	C	14: 33,364,516		probably benign	Het
B4galt5	G	T	2: 167,301,420	Y361*	probably null	Het
BC005537	C	T	13: 24,803,399	R7W	possibly damaging	Het
Bsn	G	T	9: 108,114,899	A1218D	possibly damaging	Het
Ccdc141	T	C	2: 77,108,412	D283G	probably damaging	Het
Ccdc33	T	A	9: 58,069,091	I547F	probably benign	Het
Chdh	A	G	14: 30,031,331	N66D	probably benign	Het
Ckap2l	T	A	2: 129,285,289	Q323L	probably damaging	Het
Cpvl	T	A	6: 53,974,760	I13F	possibly damaging	Het
Creb3l2	G	A	6: 37,335,869	P410L	probably damaging	Het
Dopey1	G	A	9: 86,501,984		probably null	Het
Dpysl5	A	T	5: 30,745,416	D64V	probably damaging	Het
Dysf	A	G	6: 84,114,099	Q1041R	probably benign	Het
Efcab7	T	C	4: 99,888,957	V242A	probably benign	Het
Ehbp1	G	A	11: 22,146,542	R341*	probably null	Het
Fbxo32	A	T	15: 58,214,590	W8R	probably damaging	Het
Fpgs	T	C	2: 32,683,460	N455D	probably damaging	Het
Fsip1	G	A	2: 118,136,486	Q453*	probably null	Het
Gm13103	A	G	4: 143,851,584	H138R	possibly damaging	Het
Gm8257	T	A	14: 44,657,297	E12V	probably damaging	Het
Gm8300	G	T	12: 87,516,618		probably benign	Het
Kdm3a	A	T	6: 71,595,489	D1029E	probably benign	Het
Lipo4	T	G	19: 33,511,568	Q205P	possibly damaging	Het
Lpar6	A	T	14: 73,238,995	N132I	probably damaging	Het
Lrp1b	C	T	2: 41,449,234	G866S		Het
Man2c1	T	C	9: 57,137,986	F460L	probably damaging	Het
Map3k7cl	T	C	16: 87,581,212	V72A	probably damaging	Het
Map4k1	A	T	7: 28,999,962		probably null	Het
Matn1	A	G	4: 130,955,000	E496G	probably damaging	Het
Mfsd2a	A	T	4: 122,956,855	V76E	possibly damaging	Het
Mtpap	A	G	18: 4,380,673	E117G	probably damaging	Het
Muc3	T	A	5: 137,146,777	N15I		Het
Mut	C	T	17: 40,947,043	R367C	probably damaging	Het
Ndufa10	A	G	1: 92,460,447	Y275H	probably damaging	Het
Nlrc4	A	T	17: 74,448,052	H56Q	possibly damaging	Het
Nrde2	G	A	12: 100,131,187	R785C	possibly damaging	Het
Nsun4	C	A	4: 116,034,132	C350F	probably benign	Het
Olfr1410	G	A	1: 92,608,515	G226D	possibly damaging	Het
Olfr229	T	A	9: 39,909,986	F61Y	probably benign	Het
Olfr417	A	G	1: 174,368,985	T23A	probably benign	Het
Olfr560	A	G	7: 102,753,605	L108P	possibly damaging	Het
Pdcd7	T	A	9: 65,346,979	C280S	probably damaging	Het
Peak1	G	T	9: 56,260,470	T58K	probably damaging	Het
Phactr2	T	C	10: 13,232,609	E573G	probably damaging	Het
Ptprz1	G	A	6: 23,000,964	A1018T	not run	Het
Ralgapa1	G	T	12: 55,612,638	D2032E	probably benign	Het
Rapgef4	T	A	2: 72,201,137	N488K	probably benign	Het
Slc1a2	A	G	2: 102,761,185	D420G	probably benign	Het
Smyd5	T	A	6: 85,444,315	L337Q	probably damaging	Het
Tenm4	G	A	7: 96,906,380	R2764H	possibly damaging	Het
Tex35	A	T	1: 157,099,338	Y195*	probably null	Het
Tln2	T	C	9: 67,348,226	K690E	probably damaging	Het
Trpc4	A	G	3: 54,302,286	T691A	probably benign	Het
Tsr1	T	A	11: 74,900,332	F246I	possibly damaging	Het
Ttn	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	2: 76,915,806		probably benign	Het
Ubr4	A	T	4: 139,460,033	Y669F	unknown	Het
Uox	A	C	3: 146,610,274	D12A	probably benign	Het
Wdr17	A	G	8: 54,696,267		probably null	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
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
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'- ACTTGAACACGGTACCAACC -3'
(R):5'- AAGGCCTTGGATTTTAGCGT -3'

Sequencing Primer
(F):5'- CCTGCAAAAGGTGAAAACTTAAAATG -3'
(R):5'- CCTTGGATTTTAGCGTTGATCAC -3'

Posted On

2019-12-20