Mutagenetix > Incidental Mutation

Incidental Mutation 'R6604:Dna2'

525547

Institutional Source

Beutler Lab

Gene Symbol

Dna2

Ensembl Gene

ENSMUSG00000036875

Gene Name

DNA replication helicase/nuclease 2

Synonyms

Dna2l, E130315B21Rik

MMRRC Submission

044727-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6604 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62782805-62809964 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to T at 62803522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115750 (fasta)

Gene Model

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

AlphaFold

Q6ZQJ5

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: 37,439,823 (GRCm39)		probably benign	Het
Abca13	T	G	11: 9,328,384 (GRCm39)	F3486V	probably damaging	Het
Adcy9	A	G	16: 4,122,271 (GRCm39)	L830P	probably damaging	Het
Aurkb	T	A	11: 68,939,388 (GRCm39)	L157*	probably null	Het
Bbs10	T	G	10: 111,136,965 (GRCm39)	L693V	possibly damaging	Het
Efcab3	T	A	11: 104,589,772 (GRCm39)	L123*	probably null	Het
Ext1	A	G	15: 52,946,555 (GRCm39)	F550L	probably damaging	Het
Gm5129	A	G	5: 29,940,765 (GRCm39)		probably benign	Het
Golm1	A	G	13: 59,786,197 (GRCm39)	Y332H	probably damaging	Het
Gpbp1l1	C	T	4: 116,430,702 (GRCm39)	P58S	probably benign	Het
Grk4	A	T	5: 34,877,208 (GRCm39)	D301V	probably damaging	Het
Haus1	T	C	18: 77,851,797 (GRCm39)	E106G	probably damaging	Het
Hpd	T	C	5: 123,318,964 (GRCm39)		probably null	Het
Kcnj6	C	A	16: 94,563,504 (GRCm39)	E313D	probably damaging	Het
Lmna	A	G	3: 88,395,589 (GRCm39)	V57A	probably damaging	Het
Lrrtm1	T	C	6: 77,221,221 (GRCm39)	F226S	possibly damaging	Het
Otogl	T	C	10: 107,657,895 (GRCm39)		probably null	Het
Pgr	A	C	9: 8,946,867 (GRCm39)	T703P	possibly damaging	Het
Ppig	T	C	2: 69,571,925 (GRCm39)	S215P	unknown	Het
Pramel28	T	C	4: 143,692,567 (GRCm39)	R145G	probably benign	Het
Rasgrp3	A	C	17: 75,810,110 (GRCm39)	N270T	probably benign	Het
Rp1	C	A	1: 4,089,351 (GRCm39)	K1305N	unknown	Het
Shc1	A	G	3: 89,329,186 (GRCm39)	Y10C	probably damaging	Het
Slc12a1	G	T	2: 125,026,735 (GRCm39)	D457Y	probably damaging	Het
Sncaip	A	G	18: 53,038,918 (GRCm39)	Q544R	possibly damaging	Het
Socs5	T	C	17: 87,442,553 (GRCm39)	Y498H	probably damaging	Het
Szt2	T	C	4: 118,242,671 (GRCm39)	D1472G	probably benign	Het
Tmem163	A	G	1: 127,419,347 (GRCm39)	M286T	possibly damaging	Het
Tmem236	A	G	2: 14,179,512 (GRCm39)	T38A	probably benign	Het
Vmn2r29	A	T	7: 7,234,858 (GRCm39)	V676E	probably damaging	Het
Vps13d	A	G	4: 144,907,694 (GRCm39)	V56A	probably damaging	Het
Xirp2	T	C	2: 67,340,189 (GRCm39)	I810T	possibly damaging	Het
Zfp958	T	C	8: 4,678,245 (GRCm39)	L90P	probably damaging	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
R0992: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
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'- CATGCCCCTGTATATTATTTCAGACTG -3'
(R):5'- TCCAGTTCTTTCTAAGATACCAGACC -3'

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

Posted On

2018-06-22