Mutagenetix > Incidental Mutations

Incidental Mutation 'R6703:Dna2'

528296

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 #

R6703 (G1)

Quality Score

157.009

Status

Validated

Chromosome

Chromosomal Location

62947026-62974185 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62973294 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1055 (I1055N)

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

possibly damaging
Transcript: ENSMUST00000131422
AA Change: I1055N

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115750
Gene: ENSMUSG00000036875
AA Change: I1055N

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.0%

Validation Efficiency

99% (73/74)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	A	10: 21,621,659	Y66*	probably null	Het
1700080E11Rik	T	C	9: 105,144,559	Y96C	possibly damaging	Het
Akap13	T	C	7: 75,602,898	S259P	probably damaging	Het
Aoc1	A	C	6: 48,905,714	T197P	probably damaging	Het
Blnk	A	T	19: 40,962,506		probably null	Het
Ccser1	A	T	6: 61,638,511	K94*	probably null	Het
Cfap54	T	A	10: 92,868,734	D2828V	unknown	Het
Clec4n	A	G	6: 123,235,594	Q89R	probably null	Het
Col6a3	C	T	1: 90,792,462	R1552Q	probably benign	Het
Col6a3	T	C	1: 90,779,439	D1984G	unknown	Het
Csnk2a1	A	G	2: 152,258,688	T93A	probably benign	Het
Dnm3	A	G	1: 162,318,687	F296L	probably benign	Het
Dock7	T	C	4: 98,946,672	E1822G	probably damaging	Het
Dpyd	A	T	3: 118,897,200		probably null	Het
Dyrk4	A	T	6: 126,890,082	I329N	probably damaging	Het
E4f1	C	A	17: 24,447,131	R231L	probably damaging	Het
Fat1	A	G	8: 44,953,046	T945A	probably benign	Het
Fkbp7	A	T	2: 76,671,762	M99K	probably damaging	Het
Flad1	T	C	3: 89,408,590	S222G	probably benign	Het
H1fnt	C	A	15: 98,257,272		probably benign	Het
Ighg2b	T	C	12: 113,305,033		probably benign	Het
Iqub	T	A	6: 24,449,745	N707I	probably damaging	Het
Itln1	C	T	1: 171,530,583	C199Y	probably damaging	Het
Kctd3	G	A	1: 188,996,529	R137C	probably damaging	Het
Lamp5	C	G	2: 136,059,563	N102K	possibly damaging	Het
Larp7	C	T	3: 127,544,224	M395I	probably damaging	Het
Lpcat3	C	T	6: 124,663,222	A5V	probably benign	Het
Lrrc43	C	T	5: 123,499,469	T233M	possibly damaging	Het
Map4k1	T	G	7: 29,002,396	S803A	possibly damaging	Het
Mef2c	T	A	13: 83,625,406	C134S	possibly damaging	Het
Mgst2	T	C	3: 51,664,612		probably null	Het
Mug2	T	G	6: 122,078,694	I1112R	probably benign	Het
Myo15	A	G	11: 60,492,992	I1622V	probably benign	Het
Ndor1	A	G	2: 25,249,890	F142S	possibly damaging	Het
Nectin3	A	G	16: 46,463,842	S160P	probably damaging	Het
Nynrin	A	G	14: 55,864,478	T535A	possibly damaging	Het
Olfr1290	T	A	2: 111,490,109		probably null	Het
Olfr165	T	C	16: 19,407,372	I215V	probably benign	Het
Olfr727	A	G	14: 50,127,231	Y218C	probably damaging	Het
Olfr916	A	T	9: 38,657,777	I205N	possibly damaging	Het
Pcdh10	G	A	3: 45,381,299	V683M	possibly damaging	Het
Per2	C	T	1: 91,427,949	E696K	probably damaging	Het
Pif1	T	C	9: 65,593,263	V490A	probably damaging	Het
Plekhn1	A	T	4: 156,224,793	Y219N	probably benign	Het
Ppl	T	G	16: 5,089,464	E989A	probably damaging	Het
Prkdc	T	G	16: 15,670,528	S505A	probably benign	Het
Psg16	T	C	7: 17,090,396	L35P	probably damaging	Het
Ptges	A	G	2: 30,903,121	V33A	possibly damaging	Het
Qser1	G	A	2: 104,777,325	T1416I	possibly damaging	Het
Rab3a	A	G	8: 70,756,448	D77G	probably damaging	Het
Rtn3	A	T	19: 7,435,045	V788D	probably damaging	Het
Rtn4r	T	C	16: 18,151,191	L161P	probably damaging	Het
Rtn4rl1	G	A	11: 75,265,528	R262Q	probably benign	Het
S1pr3	A	T	13: 51,419,439	I219F	probably damaging	Het
Sec23b	A	T	2: 144,559,189		probably null	Het
Senp6	A	G	9: 80,121,921	E522G	probably damaging	Het
Slc27a6	A	G	18: 58,609,839	N533S	probably benign	Het
Slc39a5	T	A	10: 128,397,782	D282V	probably damaging	Het
Smc1b	C	T	15: 85,092,031	R825Q	probably benign	Het
Snx14	A	G	9: 88,422,914	I109T	probably damaging	Het
Sorl1	A	T	9: 42,071,201	V361E	probably damaging	Het
Sox5	G	T	6: 143,833,465	S648R	probably damaging	Het
Sptbn2	G	A	19: 4,749,814	S2161N	probably benign	Het
Sptbn2	C	A	19: 4,749,815	S2161R	probably benign	Het
St6galnac2	A	G	11: 116,684,387	S209P	probably benign	Het
Tmub1	T	C	5: 24,446,946	S7G	probably benign	Het
Trpm5	C	A	7: 143,069,318		probably benign	Het
Tusc5	A	T	11: 76,694,162		probably null	Het
Vmn2r106	C	T	17: 20,268,463	C558Y	probably damaging	Het
Zfp438	A	G	18: 5,214,044	S305P	probably benign	Het
Zfp780b	T	C	7: 27,971,641	T81A	possibly damaging	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
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
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'- CTCGTGTATCCCAGGTCATC -3'
(R):5'- TTGCAGTACAGACCCCAAGG -3'

Sequencing Primer
(F):5'- CCAGGTCATCCTACAACTTAGTGTAG -3'
(R):5'- CCCTTGGTCAGACACAGATATATTTG -3'

Posted On

2018-07-24