Mutagenetix > Incidental Mutations

Incidental Mutation 'R7513:Dna2'

582232

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 #

R7513 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62947026-62974185 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62971968 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1033 (D1033G)

Ref Sequence

ENSEMBL: ENSMUSP00000115750 (fasta)

Gene Model

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

Predicted Effect

probably benign
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: D1033G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000115750
Gene: ENSMUSG00000036875
AA Change: D1033G

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: 99.6%
20x: 98.7%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	G	A	7: 131,272,071	G1709R	unknown	Het
Abcb1a	G	A	5: 8,715,771	W694*	probably null	Het
Accs	T	C	2: 93,840,092	N256S	possibly damaging	Het
Agmo	C	T	12: 37,244,353	T100I	probably benign	Het
Alox8	T	C	11: 69,187,844	D341G	probably benign	Het
Apol7c	T	A	15: 77,525,711	E345V	possibly damaging	Het
Arl5a	A	G	2: 52,412,145	F86L	possibly damaging	Het
AU040320	A	G	4: 126,792,264	E211G	probably benign	Het
B020011L13Rik	T	A	1: 117,801,419	C219S	probably damaging	Het
Btaf1	T	A	19: 36,978,403	L579Q	probably benign	Het
Cd84	T	A	1: 171,884,618	V267E	probably benign	Het
Clec11a	T	C	7: 44,306,356	E89G	probably benign	Het
Csrnp2	C	A	15: 100,482,416	E331D	probably benign	Het
Cyp2d12	C	A	15: 82,558,420	H355N	probably benign	Het
D3Ertd254e	T	A	3: 36,164,643	F272I	possibly damaging	Het
Ddx24	C	A	12: 103,419,106	G413*	probably null	Het
Dhx38	G	A	8: 109,560,589	P249L	probably benign	Het
Dip2a	A	T	10: 76,313,235	M233K	probably benign	Het
Dip2b	T	A	15: 100,207,748		probably null	Het
Dmbt1	T	C	7: 131,090,512	S1003P	unknown	Het
Dnah5	T	C	15: 28,370,415	S2834P	probably benign	Het
Dnah7b	T	G	1: 46,124,346	S437A	probably benign	Het
Eif5	A	T	12: 111,540,252	I93F	probably damaging	Het
Fbxo47	A	G	11: 97,856,229	F337S	probably damaging	Het
Gm8765	T	A	13: 50,702,873	I849N	probably benign	Het
Helz	T	C	11: 107,656,115	I1086T	probably damaging	Het
Ifi208	A	T	1: 173,695,654	R497*	probably null	Het
Igfn1	T	G	1: 135,959,967	D2453A	probably damaging	Het
Ighg2c	A	T	12: 113,288,851	L27Q		Het
Jak1	C	T	4: 101,191,651	C10Y	probably damaging	Het
Kif7	T	A	7: 79,711,028	N200Y	possibly damaging	Het
Ktn1	G	C	14: 47,664,084	A100P	possibly damaging	Het
Lrsam1	T	C	2: 32,953,485	D136G	probably benign	Het
Man2c1	T	C	9: 57,139,399	L648P	probably benign	Het
Mki67	T	C	7: 135,693,223	I3116V	probably benign	Het
Mmp10	A	T	9: 7,508,127	D418V	probably damaging	Het
Mrpl24	A	T	3: 87,922,427	T107S	probably benign	Het
Mycbpap	T	A	11: 94,503,556	D296V	probably damaging	Het
Mycn	C	A	12: 12,939,742	A218S	probably benign	Het
Myo1f	G	T	17: 33,575,814	W9C	probably damaging	Het
Nckap1	T	A	2: 80,502,291	K1074N	possibly damaging	Het
Neb	T	C	2: 52,209,540	D4766G	possibly damaging	Het
Nhsl1	T	C	10: 18,523,952	S275P	probably damaging	Het
Olfr180	T	A	16: 58,915,932	K236N	probably damaging	Het
Olfr709-ps1	A	G	7: 106,927,276	F61S	possibly damaging	Het
Pam	G	A	1: 97,853,185	P514S	possibly damaging	Het
Pcdha4	C	T	18: 36,953,339	L192F	probably damaging	Het
Per1	T	A	11: 69,105,571	D800E	probably benign	Het
Plcg2	C	A	8: 117,579,853	N315K	probably damaging	Het
Plxnb2	T	A	15: 89,158,322		probably null	Het
Pnpla1	A	G	17: 28,858,807		probably benign	Het
Pptc7	A	T	5: 122,308,129		probably null	Het
Psg26	G	T	7: 18,475,300	S394R	probably benign	Het
Psmc1	C	A	12: 100,115,514	T125K	probably benign	Het
Ptgis	T	A	2: 167,225,283	M125L	probably benign	Het
Rbms1	A	G	2: 60,758,821	Y323H	probably damaging	Het
Rgl2	G	A	17: 33,932,555	R191Q	probably benign	Het
Sirpb1a	G	A	3: 15,411,443	T98I	possibly damaging	Het
Sirpb1b	C	A	3: 15,542,140	E361*	probably null	Het
Slc13a4	A	T	6: 35,283,337		probably null	Het
Spag9	T	C	11: 94,112,083	S1140P	probably damaging	Het
Tas2r137	A	G	6: 40,492,150	N305D	probably damaging	Het
Tenm2	G	A	11: 36,051,900	A1314V	probably benign	Het
Tgm3	A	G	2: 130,024,404	T81A	probably benign	Het
Timeless	T	C	10: 128,249,530	V839A	probably damaging	Het
Tmem132a	A	G	19: 10,860,128	I606T	probably damaging	Het
Tox	T	A	4: 6,741,507	M158L	probably benign	Het
Trpc2	A	T	7: 102,090,068	M549L	probably damaging	Het
Trpm5	C	T	7: 143,081,835	R600Q	possibly damaging	Het
Trpv1	A	G	11: 73,240,541	N302D	probably damaging	Het
Ttn	G	T	2: 76,944,963	H1958N	unknown	Het
Ttn	C	T	2: 76,851,596	R1019H		Het
Usp32	A	T	11: 85,027,112	Y769*	probably null	Het
Vim	A	T	2: 13,578,632	Q255L	possibly damaging	Het
Vmn1r84	T	C	7: 12,362,067	H233R	probably benign	Het
Xirp2	T	A	2: 67,510,764	H1116Q	possibly damaging	Het
Zc3h18	G	T	8: 122,408,254	R580L	unknown	Het
Zfp442	A	T	2: 150,408,756	C409S	unknown	Het
Zfy1	A	T	Y: 759,852	I20K	unknown	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
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

Predicted Primers

PCR Primer
(F):5'- ATAGCACACTGGGTCATGC -3'
(R):5'- ACGGCTGGACAAAACTTCC -3'

Sequencing Primer
(F):5'- CCTAGTACCTAGAAATTGGAGGCC -3'
(R):5'- CCTGTGAAGTGTCAAACTGATCTCTG -3'

Posted On

2019-10-17