Mutagenetix > Incidental Mutations

Incidental Mutation 'R6604:Dna2'

525547

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 #

R6604 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62947026-62974185 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to T at 62967743 bp

Zygosity

Heterozygous

Amino Acid Change

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

noncoding transcript
Transcript: ENSMUST00000129785

Predicted Effect

probably null
Transcript: ENSMUST00000131422

SMART Domains

Protein: ENSMUSP00000115750
Gene: ENSMUSG00000036875

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	A	G	15: 37,439,579		probably benign	Het
Abca13	T	G	11: 9,378,384	F3486V	probably damaging	Het
Adcy9	A	G	16: 4,304,407	L830P	probably damaging	Het
Aurkb	T	A	11: 69,048,562	L157*	probably null	Het
Bbs10	T	G	10: 111,301,104	L693V	possibly damaging	Het
Ext1	A	G	15: 53,083,159	F550L	probably damaging	Het
Gm11639	T	A	11: 104,698,946	L123*	probably null	Het
Gm13101	T	C	4: 143,965,997	R145G	probably benign	Het
Gm5129	A	G	5: 29,735,767		probably benign	Het
Golm1	A	G	13: 59,638,383	Y332H	probably damaging	Het
Gpbp1l1	C	T	4: 116,573,505	P58S	probably benign	Het
Grk4	A	T	5: 34,719,864	D301V	probably damaging	Het
Haus1	T	C	18: 77,764,097	E106G	probably damaging	Het
Hpd	T	C	5: 123,180,901		probably null	Het
Kcnj6	C	A	16: 94,762,645	E313D	probably damaging	Het
Lmna	A	G	3: 88,488,282	V57A	probably damaging	Het
Lrrtm1	T	C	6: 77,244,238	F226S	possibly damaging	Het
Otogl	T	C	10: 107,822,034		probably null	Het
Pgr	A	C	9: 8,946,866	T703P	possibly damaging	Het
Ppig	T	C	2: 69,741,581	S215P	unknown	Het
Rasgrp3	A	C	17: 75,503,115	N270T	probably benign	Het
Rp1	C	A	1: 4,019,128	K1305N	unknown	Het
Shc1	A	G	3: 89,421,879	Y10C	probably damaging	Het
Slc12a1	G	T	2: 125,184,815	D457Y	probably damaging	Het
Sncaip	A	G	18: 52,905,846	Q544R	possibly damaging	Het
Socs5	T	C	17: 87,135,125	Y498H	probably damaging	Het
Szt2	T	C	4: 118,385,474	D1472G	probably benign	Het
Tmem163	A	G	1: 127,491,610	M286T	possibly damaging	Het
Tmem236	A	G	2: 14,174,701	T38A	probably benign	Het
Vmn2r29	A	T	7: 7,231,859	V676E	probably damaging	Het
Vps13d	A	G	4: 145,181,124	V56A	probably damaging	Het
Xirp2	T	C	2: 67,509,845	I810T	possibly damaging	Het
Zfp958	T	C	8: 4,628,245	L90P	probably 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
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
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'- CATGCCCCTGTATATTATTTCAGACTG -3'
(R):5'- TCCAGTTCTTTCTAAGATACCAGACC -3'

Sequencing Primer
(F):5'- GTATATTATTTCAGACTGCTTCCCAC -3'
(R):5'- CTTAACCACTGAGCCATGTTTCTAG -3'

Posted On

2018-06-22