Incidental Mutation 'R0697:Dna2'
| ID |
63900 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dna2
|
| Ensembl Gene |
ENSMUSG00000036875 |
| Gene Name |
DNA replication helicase/nuclease 2 |
| Synonyms |
E130315B21Rik, Dna2l |
| MMRRC Submission |
038881-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0697 (G1)
|
| Quality Score |
174 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
62947026-62974185 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62949341 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 79
(V79A)
|
| 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 |
probably benign
Transcript: ENSMUST00000092462
AA Change: V79A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000090119
Gene: ENSMUSG00000036875
AA Change: V79A
| 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: V79A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000115750
Gene: ENSMUSG00000036875
AA Change: V79A
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.4%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
C |
A |
19: 31,911,167 |
A99E |
probably damaging |
Het |
| Aig1 |
T |
C |
10: 13,829,325 |
N72S |
probably benign |
Het |
| Atad2 |
T |
C |
15: 58,105,543 |
I857M |
possibly damaging |
Het |
| Ceacam15 |
A |
C |
7: 16,673,520 |
L24* |
probably null |
Het |
| Cpsf2 |
A |
G |
12: 101,983,184 |
H53R |
probably benign |
Het |
| Crh |
C |
A |
3: 19,694,077 |
G134C |
probably damaging |
Het |
| Cyp2g1 |
A |
T |
7: 26,814,727 |
K253* |
probably null |
Het |
| Dsc2 |
A |
G |
18: 20,041,452 |
V549A |
probably damaging |
Het |
| Etl4 |
G |
T |
2: 20,743,861 |
V135F |
probably damaging |
Het |
| Frk |
A |
G |
10: 34,607,837 |
H398R |
probably benign |
Het |
| Gfra1 |
A |
C |
19: 58,270,123 |
S271A |
probably benign |
Het |
| Htr1b |
T |
C |
9: 81,631,463 |
I364V |
possibly damaging |
Het |
| Kcnh5 |
A |
T |
12: 74,976,531 |
C588S |
possibly damaging |
Het |
| Kif13a |
G |
A |
13: 46,848,337 |
T70I |
probably benign |
Het |
| Klra6 |
T |
C |
6: 130,016,724 |
I195V |
probably benign |
Het |
| Nras |
T |
C |
3: 103,060,300 |
Y71H |
possibly damaging |
Het |
| Sirt5 |
T |
C |
13: 43,385,576 |
F274L |
probably damaging |
Het |
| Synj1 |
T |
C |
16: 90,960,615 |
T882A |
probably benign |
Het |
| Vmn1r84 |
A |
T |
7: 12,362,763 |
M1K |
probably null |
Het |
| Zfhx4 |
A |
T |
3: 5,401,733 |
E2317V |
probably damaging |
Het |
| Zfp345 |
A |
T |
2: 150,472,909 |
I236K |
probably benign |
Het |
|
| Other mutations in Dna2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00329:Dna2
|
APN |
10 |
62966443 |
missense |
probably damaging |
1.00 |
|
IGL00972:Dna2
|
APN |
10 |
62950823 |
missense |
probably benign |
0.13 |
|
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 |
|
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 |
|
R9451:Dna2
|
UTSW |
10 |
62954293 |
missense |
probably benign |
0.00 |
|
R9457:Dna2
|
UTSW |
10 |
62950793 |
missense |
probably benign |
0.02 |
|
R9571:Dna2
|
UTSW |
10 |
62964961 |
missense |
probably damaging |
1.00 |
|
R9772:Dna2
|
UTSW |
10 |
62950743 |
missense |
probably benign |
0.13 |
|
RF007:Dna2
|
UTSW |
10 |
62966695 |
missense |
probably damaging |
0.99 |
|
Z1177:Dna2
|
UTSW |
10 |
62962424 |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATCTCGCGGCTCTGATAGGATGG -3'
(R):5'- AGCTTAGTTTGCCTGGCACACTC -3'
Sequencing Primer
(F):5'- CGGCTCTGATAGGATGGTTTCTATG -3'
(R):5'- tgtcctccagacgctacc -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation