Incidental Mutation 'R0831:Dna2'
ID |
77558 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dna2
|
Ensembl Gene |
ENSMUSG00000036875 |
Gene Name |
DNA replication helicase/nuclease 2 |
Synonyms |
Dna2l, E130315B21Rik |
MMRRC Submission |
039010-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0831 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
62782805-62809964 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 62795108 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 460
(K460*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115750
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092462]
[ENSMUST00000131422]
|
AlphaFold |
Q6ZQJ5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000092462
AA Change: K460*
|
SMART Domains |
Protein: ENSMUSP00000090119 Gene: ENSMUSG00000036875 AA Change: K460*
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
AA Change: K460*
|
SMART Domains |
Protein: ENSMUSP00000115750 Gene: ENSMUSG00000036875 AA Change: K460*
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 96.9%
- 20x: 92.0%
|
Validation Efficiency |
95% (82/86) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900092C05Rik |
C |
T |
7: 12,284,523 (GRCm39) |
|
probably benign |
Het |
3425401B19Rik |
T |
C |
14: 32,384,228 (GRCm39) |
N579S |
probably benign |
Het |
Adck1 |
G |
T |
12: 88,335,118 (GRCm39) |
M1I |
probably null |
Het |
Adgra3 |
A |
T |
5: 50,128,144 (GRCm39) |
I779N |
probably damaging |
Het |
Adgrf2 |
A |
G |
17: 43,021,334 (GRCm39) |
S497P |
probably damaging |
Het |
Afg3l2 |
A |
C |
18: 67,554,297 (GRCm39) |
F468L |
probably damaging |
Het |
Alms1 |
T |
A |
6: 85,605,502 (GRCm39) |
I2384N |
probably benign |
Het |
Ankrd13b |
A |
T |
11: 77,363,585 (GRCm39) |
S244R |
probably damaging |
Het |
Aox1 |
T |
A |
1: 58,378,842 (GRCm39) |
H1030Q |
probably benign |
Het |
Ap1b1 |
A |
G |
11: 4,973,092 (GRCm39) |
|
probably benign |
Het |
Atxn2l |
A |
G |
7: 126,098,332 (GRCm39) |
S187P |
probably damaging |
Het |
B4galt4 |
G |
T |
16: 38,588,341 (GRCm39) |
E57D |
probably benign |
Het |
Cad |
T |
C |
5: 31,224,944 (GRCm39) |
V949A |
probably damaging |
Het |
Cadps2 |
C |
T |
6: 23,321,739 (GRCm39) |
S1051N |
possibly damaging |
Het |
Ccdc66 |
C |
T |
14: 27,219,313 (GRCm39) |
V148I |
probably benign |
Het |
Ccser1 |
C |
T |
6: 61,400,045 (GRCm39) |
P55S |
probably damaging |
Het |
Cds2 |
T |
C |
2: 132,127,887 (GRCm39) |
|
probably null |
Het |
Cep95 |
A |
G |
11: 106,705,530 (GRCm39) |
D548G |
probably benign |
Het |
Chil3 |
A |
G |
3: 106,057,063 (GRCm39) |
Y294H |
probably benign |
Het |
Chmp5 |
A |
G |
4: 40,949,500 (GRCm39) |
D39G |
probably damaging |
Het |
Chrd |
T |
A |
16: 20,560,059 (GRCm39) |
F887I |
probably damaging |
Het |
Col24a1 |
G |
T |
3: 145,034,520 (GRCm39) |
G580V |
probably damaging |
Het |
Col6a2 |
A |
T |
10: 76,439,939 (GRCm39) |
N655K |
probably damaging |
Het |
Ctsf |
A |
T |
19: 4,909,868 (GRCm39) |
Y416F |
possibly damaging |
Het |
Dennd5a |
A |
C |
7: 109,533,961 (GRCm39) |
V77G |
probably damaging |
Het |
Dnah17 |
A |
T |
11: 117,951,097 (GRCm39) |
M2842K |
probably damaging |
Het |
Dnajc13 |
C |
A |
9: 104,049,811 (GRCm39) |
G1765V |
probably damaging |
Het |
Donson |
A |
C |
16: 91,480,651 (GRCm39) |
C243W |
probably damaging |
Het |
Dpp8 |
A |
T |
9: 64,985,961 (GRCm39) |
N817I |
possibly damaging |
Het |
Eef1d |
G |
A |
15: 75,768,655 (GRCm39) |
|
probably benign |
Het |
Esf1 |
T |
A |
2: 140,010,279 (GRCm39) |
D19V |
probably damaging |
Het |
Gm21738 |
T |
A |
14: 19,415,957 (GRCm38) |
Y194F |
probably benign |
Het |
Gm21738 |
T |
C |
14: 19,415,963 (GRCm38) |
K192R |
probably benign |
Het |
Gm9867 |
C |
A |
4: 140,049,799 (GRCm39) |
A128S |
unknown |
Het |
Igsf23 |
G |
T |
7: 19,675,662 (GRCm39) |
|
probably benign |
Het |
Inhca |
T |
C |
9: 103,146,978 (GRCm39) |
H292R |
possibly damaging |
Het |
Kdm7a |
C |
A |
6: 39,143,699 (GRCm39) |
|
probably benign |
Het |
Kif14 |
G |
A |
1: 136,453,609 (GRCm39) |
|
probably benign |
Het |
Mroh7 |
T |
C |
4: 106,537,990 (GRCm39) |
N1229D |
possibly damaging |
Het |
Mrps11 |
C |
A |
7: 78,441,611 (GRCm39) |
|
probably benign |
Het |
Mtmr2 |
T |
A |
9: 13,707,409 (GRCm39) |
D248E |
probably damaging |
Het |
Myrfl |
C |
A |
10: 116,619,114 (GRCm39) |
S748I |
probably benign |
Het |
Nop14 |
T |
C |
5: 34,807,864 (GRCm39) |
E366G |
possibly damaging |
Het |
Or13c3 |
T |
G |
4: 52,855,764 (GRCm39) |
I250L |
possibly damaging |
Het |
Or2w25 |
C |
T |
11: 59,504,480 (GRCm39) |
T230I |
possibly damaging |
Het |
Or52z13 |
A |
G |
7: 103,247,338 (GRCm39) |
I272V |
probably benign |
Het |
Or7e177 |
T |
A |
9: 20,211,861 (GRCm39) |
C123S |
probably benign |
Het |
Or8g2b |
C |
T |
9: 39,751,579 (GRCm39) |
P283L |
probably damaging |
Het |
Phykpl |
G |
T |
11: 51,476,366 (GRCm39) |
E29* |
probably null |
Het |
Plppr4 |
A |
G |
3: 117,125,295 (GRCm39) |
|
probably null |
Het |
Prmt2 |
A |
C |
10: 76,043,641 (GRCm39) |
|
probably benign |
Het |
Prodh2 |
T |
A |
7: 30,193,649 (GRCm39) |
Y114* |
probably null |
Het |
Prr23a2 |
C |
A |
9: 98,738,917 (GRCm39) |
H92N |
probably damaging |
Het |
Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
Rdx |
C |
A |
9: 51,977,117 (GRCm39) |
A122E |
probably damaging |
Het |
Rspo3 |
T |
G |
10: 29,330,253 (GRCm39) |
D236A |
unknown |
Het |
Sdk2 |
A |
T |
11: 113,723,084 (GRCm39) |
D1302E |
probably damaging |
Het |
Sipa1 |
A |
T |
19: 5,710,382 (GRCm39) |
D209E |
probably damaging |
Het |
Sirpa |
T |
G |
2: 129,469,856 (GRCm39) |
|
probably benign |
Het |
Ska1 |
A |
C |
18: 74,330,570 (GRCm39) |
|
probably benign |
Het |
Slc4a9 |
T |
C |
18: 36,668,331 (GRCm39) |
|
probably benign |
Het |
Slco1b2 |
T |
C |
6: 141,631,172 (GRCm39) |
V602A |
probably benign |
Het |
Slco2a1 |
T |
C |
9: 102,959,533 (GRCm39) |
V543A |
probably damaging |
Het |
Sorcs3 |
A |
T |
19: 48,682,433 (GRCm39) |
L489F |
probably damaging |
Het |
Sorl1 |
T |
C |
9: 41,982,365 (GRCm39) |
|
probably benign |
Het |
Sp140l1 |
C |
G |
1: 85,077,226 (GRCm39) |
K113N |
probably benign |
Het |
Spindoc |
G |
T |
19: 7,352,100 (GRCm39) |
N82K |
probably benign |
Het |
Stk17b |
C |
A |
1: 53,796,651 (GRCm39) |
C372F |
probably damaging |
Het |
Tbck |
A |
G |
3: 132,428,052 (GRCm39) |
|
probably benign |
Het |
Thoc1 |
C |
T |
18: 9,963,267 (GRCm39) |
T127I |
probably benign |
Het |
Togaram2 |
G |
T |
17: 72,023,439 (GRCm39) |
R765L |
probably damaging |
Het |
Tprg1 |
A |
G |
16: 25,136,219 (GRCm39) |
Y70C |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Umodl1 |
T |
C |
17: 31,215,325 (GRCm39) |
Y1050H |
probably damaging |
Het |
Vmn1r205 |
T |
A |
13: 22,776,586 (GRCm39) |
D172V |
probably benign |
Het |
Vmn1r79 |
A |
T |
7: 11,910,990 (GRCm39) |
N291Y |
probably damaging |
Het |
Vmn2r112 |
T |
A |
17: 22,833,980 (GRCm39) |
N549K |
probably damaging |
Het |
Vrk3 |
T |
A |
7: 44,414,227 (GRCm39) |
L241Q |
probably damaging |
Het |
Zc3h7a |
A |
G |
16: 10,969,744 (GRCm39) |
S386P |
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 |
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'- GCCTTGCCACAGATAATCGAGGAAG -3'
(R):5'- GGTCGTGAGCAAATGACACAGACAC -3'
Sequencing Primer
(F):5'- GCAGGTAAGTGgtgtgtgtg -3'
(R):5'- gctgtctcagtgcccctc -3'
|
Posted On |
2013-10-16 |