Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00972:Dna2'

28417

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dna2

Ensembl Gene

ENSMUSG00000036875

Gene Name

DNA replication helicase/nuclease 2

Synonyms

E130315B21Rik, Dna2l

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00972

Quality Score

Status

Chromosome

Chromosomal Location

62947026-62974185 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62950823 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 117 (Y117H)

Ref Sequence

ENSEMBL: ENSMUSP00000115750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044977] [ENSMUST00000092462] [ENSMUST00000131422]

Predicted Effect

probably benign
Transcript: ENSMUST00000044977

SMART Domains

Protein: ENSMUSP00000043370
Gene: ENSMUSG00000071253

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
Pfam:Mito_carr	32	125	1.7e-25	PFAM
Pfam:Mito_carr	127	220	2.3e-26	PFAM
Pfam:Mito_carr	237	332	8.6e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000092462
AA Change: Y117H

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000090119
Gene: ENSMUSG00000036875
AA Change: Y117H

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 benign
Transcript: ENSMUST00000131422
AA Change: Y117H

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000115750
Gene: ENSMUSG00000036875
AA Change: Y117H

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: ENSMUST00000131715

Coding Region Coverage

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	A	G	4: 124,610,691	F23L	probably damaging	Het
Abcf3	A	T	16: 20,551,684	M320L	probably damaging	Het
Adam4	A	T	12: 81,420,649	H399Q	probably damaging	Het
Ank1	A	G	8: 23,141,644	K140E	probably damaging	Het
Atg2a	G	A	19: 6,254,599	C1162Y	probably damaging	Het
Atp2b1	T	A	10: 99,015,044	I34N	probably damaging	Het
Bin1	A	T	18: 32,424,834	E260V	probably benign	Het
Birc2	G	A	9: 7,833,715	S255L	probably benign	Het
Cdc42bpa	A	G	1: 180,074,684	Q502R	probably benign	Het
Cep170	A	G	1: 176,735,696	V1584A	probably benign	Het
Commd3	A	T	2: 18,674,665	R120S	probably benign	Het
Cyp39a1	A	T	17: 43,701,543	I304L	probably benign	Het
Cyp3a44	A	T	5: 145,779,724	M352K	possibly damaging	Het
Dnah6	A	G	6: 73,083,157		probably benign	Het
Dsc1	G	A	18: 20,088,363	P685L	probably benign	Het
Efna5	T	A	17: 62,613,379	I168L	possibly damaging	Het
Ephx1	A	G	1: 180,999,800	F96S	probably benign	Het
Fig4	A	T	10: 41,251,788	I560K	probably damaging	Het
Fktn	T	A	4: 53,734,992	I210N	probably damaging	Het
Fmnl1	T	C	11: 103,180,955	V96A	probably damaging	Het
Gabra1	T	G	11: 42,133,626	E407D	probably benign	Het
Gm5277	A	T	3: 78,892,286		noncoding transcript	Het
H2-M10.5	A	T	17: 36,773,335	E63V	possibly damaging	Het
Icam5	T	A	9: 21,034,697	V275E	probably damaging	Het
Kel	G	A	6: 41,688,066	A588V	possibly damaging	Het
Klra5	T	A	6: 129,906,605	E96D	probably damaging	Het
Limd1	C	T	9: 123,480,076	T280I	probably benign	Het
Mul1	C	A	4: 138,438,317	S95*	probably null	Het
Nlrp4a	T	C	7: 26,457,048	S733P	probably benign	Het
Ntn1	T	A	11: 68,213,272	I517F	possibly damaging	Het
Ntrk3	T	A	7: 78,247,322	M656L	possibly damaging	Het
Oacyl	T	G	18: 65,725,501	L226R	possibly damaging	Het
Olfr1314	A	T	2: 112,092,094	N202K	probably damaging	Het
Olfr1378	A	T	11: 50,969,119	M34L	probably benign	Het
Olfr199	A	G	16: 59,216,466	I49T	probably damaging	Het
Pibf1	T	A	14: 99,179,449	L486*	probably null	Het
Pla2g4c	A	G	7: 13,340,658	Y253C	probably benign	Het
Rims3	C	A	4: 120,891,386	A268E	probably benign	Het
Rpl12	T	C	2: 32,963,747	I129T	probably benign	Het
Rsl1	A	T	13: 67,181,798	K103N	probably benign	Het
Scn11a	A	T	9: 119,793,938	W612R	probably benign	Het
Sdk2	G	A	11: 113,854,384	T695M	possibly damaging	Het
Slc17a1	T	A	13: 23,878,454		probably benign	Het
Stam	A	T	2: 14,115,968		probably benign	Het
Tacr3	T	G	3: 134,932,355	N424K	probably benign	Het
Tas1r2	C	T	4: 139,660,036	R240W	probably damaging	Het
Tle1	T	C	4: 72,122,400	R648G	probably damaging	Het
Tmem92	T	C	11: 94,782,428	D3G	possibly damaging	Het
Trip11	T	C	12: 101,894,337	I250V	probably null	Het
Tspan8	C	T	10: 115,844,139		probably benign	Het
Vmn1r128	A	G	7: 21,350,076	E235G	probably benign	Het
Vmn1r220	A	G	13: 23,184,388	L46P	probably damaging	Het
Vmn2r9	T	C	5: 108,849,037	E122G	probably benign	Het
Zfp27	A	T	7: 29,894,958	N527K	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
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
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

Posted On

2013-04-17