Incidental Mutation 'R0528:Dna2'
ID |
49007 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dna2
|
Ensembl Gene |
ENSMUSG00000036875 |
Gene Name |
DNA replication helicase/nuclease 2 |
Synonyms |
Dna2l, E130315B21Rik |
MMRRC Submission |
038720-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0528 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
62782805-62809964 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 62793910 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 341
(Q341K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115750
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092462]
[ENSMUST00000131422]
|
AlphaFold |
Q6ZQJ5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000092462
AA Change: Q341K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000090119 Gene: ENSMUSG00000036875 AA Change: Q341K
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: Q341K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000115750 Gene: ENSMUSG00000036875 AA Change: Q341K
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 |
|
Meta Mutation Damage Score |
0.1003 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.9%
|
Validation Efficiency |
96% (65/68) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
G |
10: 79,838,848 (GRCm39) |
W674G |
probably damaging |
Het |
Abcc9 |
G |
A |
6: 142,638,606 (GRCm39) |
H103Y |
probably damaging |
Het |
Ano7 |
A |
G |
1: 93,323,224 (GRCm39) |
N495S |
probably null |
Het |
Aoc1l3 |
T |
A |
6: 48,964,965 (GRCm39) |
D324E |
probably benign |
Het |
Ash1l |
A |
G |
3: 88,889,584 (GRCm39) |
N488D |
probably benign |
Het |
Astn2 |
A |
G |
4: 65,563,119 (GRCm39) |
|
probably benign |
Het |
Atraid |
T |
A |
5: 31,209,796 (GRCm39) |
|
probably benign |
Het |
Baz2b |
T |
C |
2: 59,767,083 (GRCm39) |
R866G |
probably damaging |
Het |
Cep164 |
T |
A |
9: 45,688,234 (GRCm39) |
|
probably benign |
Het |
Clec4f |
G |
A |
6: 83,629,776 (GRCm39) |
Q261* |
probably null |
Het |
Cpne4 |
A |
T |
9: 104,563,640 (GRCm39) |
N6Y |
probably damaging |
Het |
Dhx38 |
G |
T |
8: 110,289,293 (GRCm39) |
Q36K |
probably benign |
Het |
Dynap |
A |
G |
18: 70,375,165 (GRCm39) |
|
probably benign |
Het |
Eif3l |
T |
C |
15: 78,973,809 (GRCm39) |
V408A |
probably benign |
Het |
Foxi3 |
T |
A |
6: 70,934,122 (GRCm39) |
I203N |
probably damaging |
Het |
Gcc2 |
T |
A |
10: 58,134,511 (GRCm39) |
L1495Q |
probably damaging |
Het |
Gpr158 |
A |
G |
2: 21,830,019 (GRCm39) |
D688G |
probably damaging |
Het |
Hcfc2 |
C |
A |
10: 82,575,079 (GRCm39) |
T246K |
probably damaging |
Het |
Hdc |
C |
T |
2: 126,458,152 (GRCm39) |
E57K |
probably benign |
Het |
Iqsec3 |
G |
C |
6: 121,389,743 (GRCm39) |
|
probably benign |
Het |
Islr2 |
T |
A |
9: 58,106,645 (GRCm39) |
E205V |
probably damaging |
Het |
Klf9 |
T |
C |
19: 23,119,498 (GRCm39) |
L127P |
probably benign |
Het |
Lamc2 |
A |
T |
1: 152,999,840 (GRCm39) |
L1173Q |
probably damaging |
Het |
Lipe |
G |
A |
7: 25,097,901 (GRCm39) |
T14I |
possibly damaging |
Het |
Lnpep |
A |
G |
17: 17,751,394 (GRCm39) |
|
probably benign |
Het |
Lrrc15 |
A |
G |
16: 30,092,566 (GRCm39) |
S258P |
probably damaging |
Het |
Macc1 |
A |
T |
12: 119,410,780 (GRCm39) |
Y516F |
probably benign |
Het |
Megf6 |
A |
G |
4: 154,343,630 (GRCm39) |
T718A |
probably benign |
Het |
Mtcl2 |
A |
G |
2: 156,862,612 (GRCm39) |
L1439P |
probably damaging |
Het |
Myh1 |
A |
G |
11: 67,111,445 (GRCm39) |
D1628G |
probably damaging |
Het |
Naca |
C |
T |
10: 127,879,162 (GRCm39) |
T1398I |
probably benign |
Het |
Or1f12 |
A |
G |
13: 21,721,416 (GRCm39) |
F238S |
possibly damaging |
Het |
Or2a54 |
A |
T |
6: 43,093,150 (GRCm39) |
H158L |
possibly damaging |
Het |
Padi4 |
A |
G |
4: 140,496,740 (GRCm39) |
V52A |
possibly damaging |
Het |
Paqr5 |
G |
A |
9: 61,863,527 (GRCm39) |
T251I |
probably damaging |
Het |
Pcm1 |
A |
G |
8: 41,768,967 (GRCm39) |
D1611G |
probably damaging |
Het |
Prss12 |
G |
A |
3: 123,276,445 (GRCm39) |
R358K |
probably benign |
Het |
Racgap1 |
A |
T |
15: 99,526,587 (GRCm39) |
H325Q |
probably damaging |
Het |
Rbm12b1 |
A |
G |
4: 12,145,657 (GRCm39) |
H543R |
probably benign |
Het |
Rc3h1 |
A |
T |
1: 160,795,228 (GRCm39) |
N1076I |
probably damaging |
Het |
Rp1 |
A |
G |
1: 4,415,088 (GRCm39) |
L2008P |
possibly damaging |
Het |
Rsph3a |
A |
G |
17: 8,164,919 (GRCm39) |
H93R |
possibly damaging |
Het |
Sbf1 |
C |
T |
15: 89,172,915 (GRCm39) |
R1840H |
probably damaging |
Het |
Skic8 |
T |
A |
9: 54,630,219 (GRCm39) |
|
probably benign |
Het |
Sytl2 |
T |
C |
7: 90,052,228 (GRCm39) |
|
probably benign |
Het |
Tbc1d9 |
T |
C |
8: 83,937,085 (GRCm39) |
S56P |
probably damaging |
Het |
Tiam2 |
A |
T |
17: 3,561,346 (GRCm39) |
M1304L |
probably damaging |
Het |
Tmprss11b |
G |
T |
5: 86,819,753 (GRCm39) |
R9S |
probably damaging |
Het |
Tnfrsf21 |
T |
A |
17: 43,348,505 (GRCm39) |
I39N |
probably benign |
Het |
Tnrc6b |
T |
C |
15: 80,763,604 (GRCm39) |
S369P |
probably benign |
Het |
Tpra1 |
T |
C |
6: 88,887,372 (GRCm39) |
V217A |
probably benign |
Het |
Uckl1 |
G |
C |
2: 181,212,283 (GRCm39) |
|
probably benign |
Het |
Vmn1r199 |
A |
T |
13: 22,566,736 (GRCm39) |
Q10L |
probably benign |
Het |
Vmn2r76 |
A |
G |
7: 85,879,506 (GRCm39) |
S265P |
possibly damaging |
Het |
Vwa5b1 |
A |
T |
4: 138,321,662 (GRCm39) |
L377Q |
probably damaging |
Het |
Wrap73 |
A |
G |
4: 154,229,776 (GRCm39) |
D49G |
probably damaging |
Het |
Zfp764 |
T |
A |
7: 127,004,051 (GRCm39) |
Q360L |
possibly damaging |
Het |
Zfp846 |
G |
A |
9: 20,499,224 (GRCm39) |
|
probably benign |
Het |
Zranb2 |
T |
C |
3: 157,240,096 (GRCm39) |
I14T |
probably benign |
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 |
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 |
|
R6604:Dna2
|
UTSW |
10 |
62,803,522 (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'- GCCAACCTTCTTCGATGTGTGGTTC -3'
(R):5'- GGTGCTGTGGAAAACTAGAGACCTG -3'
Sequencing Primer
(F):5'- TGTGGTTCCAGACAGCATAG -3'
(R):5'- tcgggatgccaaagcaag -3'
|
Posted On |
2013-06-12 |