Incidental Mutation 'R5775:Dna2'
| ID |
448735 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dna2
|
| Ensembl Gene |
ENSMUSG00000036875 |
| Gene Name |
DNA replication helicase/nuclease 2 |
| Synonyms |
Dna2l, E130315B21Rik |
| MMRRC Submission |
043374-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5775 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
62782805-62809964 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62785021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 46
(N46S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044977]
[ENSMUST00000092462]
[ENSMUST00000131422]
[ENSMUST00000144459]
|
| AlphaFold |
Q6ZQJ5 |
| 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 |
possibly damaging
Transcript: ENSMUST00000092462
AA Change: N46S
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000090119
Gene: ENSMUSG00000036875
AA Change: N46S
| 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 |
possibly damaging
Transcript: ENSMUST00000131422
AA Change: N46S
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000115750
Gene: ENSMUSG00000036875
AA Change: N46S
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144459
|
| SMART Domains |
Protein: ENSMUSP00000114510
Gene: ENSMUSG00000071253
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
23 |
N/A |
INTRINSIC |
|
Pfam:Mito_carr
|
32 |
125 |
9.4e-28 |
PFAM |
|
Pfam:Mito_carr
|
126 |
223 |
4.6e-25 |
PFAM |
|
Pfam:Mito_carr
|
240 |
322 |
2.3e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152350
|
| Meta Mutation Damage Score |
0.1685 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
97% (59/61) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
A |
G |
12: 113,509,886 (GRCm39) |
D753G |
possibly damaging |
Het |
| Arpc2 |
T |
A |
1: 74,295,108 (GRCm39) |
|
probably null |
Het |
| Atxn2 |
C |
T |
5: 121,951,512 (GRCm39) |
T619M |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,035,860 (GRCm39) |
Y1120H |
probably damaging |
Het |
| Calm5 |
T |
C |
13: 3,904,435 (GRCm39) |
L20S |
probably damaging |
Het |
| Carmil1 |
T |
C |
13: 24,460,520 (GRCm39) |
I20V |
probably benign |
Het |
| Cd177 |
T |
C |
7: 24,451,693 (GRCm39) |
E441G |
probably damaging |
Het |
| Cd63 |
T |
A |
10: 128,746,299 (GRCm39) |
C9S |
probably damaging |
Het |
| Cep250 |
A |
C |
2: 155,811,294 (GRCm39) |
D380A |
possibly damaging |
Het |
| Col5a3 |
G |
T |
9: 20,712,368 (GRCm39) |
P509Q |
unknown |
Het |
| Cyp11b2 |
A |
G |
15: 74,725,327 (GRCm39) |
V264A |
probably benign |
Het |
| Dennd6a |
T |
A |
14: 26,340,528 (GRCm39) |
L214* |
probably null |
Het |
| Elovl1 |
G |
A |
4: 118,288,094 (GRCm39) |
V77I |
probably benign |
Het |
| Eml1 |
A |
T |
12: 108,472,813 (GRCm39) |
Y207F |
probably damaging |
Het |
| Epha6 |
C |
T |
16: 59,639,357 (GRCm39) |
R839Q |
possibly damaging |
Het |
| Erlec1 |
A |
T |
11: 30,893,848 (GRCm39) |
S105T |
probably benign |
Het |
| Esp3 |
T |
A |
17: 40,944,468 (GRCm39) |
S37T |
possibly damaging |
Het |
| Foxh1 |
G |
A |
15: 76,554,049 (GRCm39) |
A8V |
probably benign |
Het |
| Fut1 |
A |
C |
7: 45,268,886 (GRCm39) |
D280A |
probably damaging |
Het |
| Gm13998 |
G |
T |
2: 119,708,892 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| H2az1 |
T |
C |
3: 137,571,380 (GRCm39) |
Y61H |
probably damaging |
Het |
| Kcns1 |
T |
C |
2: 164,006,686 (GRCm39) |
I426V |
probably damaging |
Het |
| Kdm4c |
T |
G |
4: 74,277,668 (GRCm39) |
V774G |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,228,639 (GRCm39) |
V673I |
probably benign |
Het |
| Mtnr1b |
G |
A |
9: 15,774,168 (GRCm39) |
A297V |
possibly damaging |
Het |
| Or5d43 |
A |
T |
2: 88,105,045 (GRCm39) |
M116K |
probably damaging |
Het |
| Or8b40 |
A |
T |
9: 38,027,423 (GRCm39) |
E110D |
probably damaging |
Het |
| Osbpl5 |
A |
T |
7: 143,258,266 (GRCm39) |
V346D |
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,655,562 (GRCm39) |
E485V |
probably damaging |
Het |
| Pgpep1 |
G |
A |
8: 71,105,101 (GRCm39) |
T53M |
probably damaging |
Het |
| Pigo |
T |
C |
4: 43,023,475 (GRCm39) |
D233G |
probably damaging |
Het |
| Pmm1 |
A |
T |
15: 81,836,156 (GRCm39) |
I152N |
probably benign |
Het |
| Pot1a |
A |
T |
6: 25,757,297 (GRCm39) |
|
probably null |
Het |
| Ppp1r12b |
G |
T |
1: 134,803,780 (GRCm39) |
L460I |
probably benign |
Het |
| Prrc2a |
T |
C |
17: 35,377,463 (GRCm39) |
D565G |
unknown |
Het |
| Psd |
C |
A |
19: 46,303,211 (GRCm39) |
E724* |
probably null |
Het |
| Rasa2 |
C |
T |
9: 96,459,521 (GRCm39) |
|
probably null |
Het |
| Rsbn1 |
A |
T |
3: 103,869,888 (GRCm39) |
Q783L |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,784,848 (GRCm39) |
Y1035C |
probably damaging |
Het |
| Sec24d |
C |
T |
3: 123,084,109 (GRCm39) |
A96V |
probably benign |
Het |
| Sec61a2 |
A |
T |
2: 5,887,585 (GRCm39) |
|
probably null |
Het |
| Sec62 |
A |
G |
3: 30,847,436 (GRCm39) |
|
probably benign |
Het |
| Tcstv2a |
T |
A |
13: 120,725,475 (GRCm39) |
C46* |
probably null |
Het |
| Tmem132b |
T |
A |
5: 125,715,394 (GRCm39) |
|
probably null |
Het |
| Tnip3 |
A |
G |
6: 65,591,741 (GRCm39) |
S247G |
probably benign |
Het |
| Traf3 |
A |
G |
12: 111,219,162 (GRCm39) |
K263R |
possibly damaging |
Het |
| Tubgcp3 |
A |
T |
8: 12,675,056 (GRCm39) |
I713N |
probably damaging |
Het |
| Unc5c |
A |
G |
3: 141,534,281 (GRCm39) |
E860G |
probably damaging |
Het |
| Usp44 |
A |
G |
10: 93,681,840 (GRCm39) |
S97G |
possibly damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Vps37a |
A |
G |
8: 40,982,160 (GRCm39) |
H109R |
probably damaging |
Het |
| Wfikkn2 |
G |
T |
11: 94,129,114 (GRCm39) |
D342E |
probably benign |
Het |
| Zfp354b |
A |
T |
11: 50,813,647 (GRCm39) |
F426Y |
probably benign |
Het |
| Zfp462 |
C |
A |
4: 55,010,590 (GRCm39) |
T852N |
probably damaging |
Het |
| Zfp987 |
T |
G |
4: 146,061,505 (GRCm39) |
S312R |
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 |
|
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 |
|
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'- AGGTTTTCAGATCAAACAAGACTAG -3'
(R):5'- CAAGGCCTTAGGTCAGGTGG -3'
Sequencing Primer
(F):5'- CTAGAAAACCAGAAGATTGACTTGG -3'
(R):5'- CCAGGTAATCGCAGCATTTG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation