Incidental Mutation 'IGL00972:Dna2'
| ID |
28417 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dna2
|
| Ensembl Gene |
ENSMUSG00000036875 |
| Gene Name |
DNA replication helicase/nuclease 2 |
| Synonyms |
Dna2l, E130315B21Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00972
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
62782805-62809964 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62786602 bp (GRCm39)
|
| 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]
|
| 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: 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: 124,504,484 (GRCm39) |
F23L |
probably damaging |
Het |
| Abcf3 |
A |
T |
16: 20,370,434 (GRCm39) |
M320L |
probably damaging |
Het |
| Adam4 |
A |
T |
12: 81,467,423 (GRCm39) |
H399Q |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,631,660 (GRCm39) |
K140E |
probably damaging |
Het |
| Atg2a |
G |
A |
19: 6,304,629 (GRCm39) |
C1162Y |
probably damaging |
Het |
| Atp2b1 |
T |
A |
10: 98,850,906 (GRCm39) |
I34N |
probably damaging |
Het |
| Bin1 |
A |
T |
18: 32,557,887 (GRCm39) |
E260V |
probably benign |
Het |
| Birc2 |
G |
A |
9: 7,833,716 (GRCm39) |
S255L |
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,902,249 (GRCm39) |
Q502R |
probably benign |
Het |
| Cep170 |
A |
G |
1: 176,563,262 (GRCm39) |
V1584A |
probably benign |
Het |
| Commd3 |
A |
T |
2: 18,679,476 (GRCm39) |
R120S |
probably benign |
Het |
| Cyp39a1 |
A |
T |
17: 44,012,434 (GRCm39) |
I304L |
probably benign |
Het |
| Cyp3a44 |
A |
T |
5: 145,716,534 (GRCm39) |
M352K |
possibly damaging |
Het |
| Dnah6 |
A |
G |
6: 73,060,140 (GRCm39) |
|
probably benign |
Het |
| Dsc1 |
G |
A |
18: 20,221,420 (GRCm39) |
P685L |
probably benign |
Het |
| Efna5 |
T |
A |
17: 62,920,374 (GRCm39) |
I168L |
possibly damaging |
Het |
| Ephx1 |
A |
G |
1: 180,827,365 (GRCm39) |
F96S |
probably benign |
Het |
| Fig4 |
A |
T |
10: 41,127,784 (GRCm39) |
I560K |
probably damaging |
Het |
| Fktn |
T |
A |
4: 53,734,992 (GRCm39) |
I210N |
probably damaging |
Het |
| Fmnl1 |
T |
C |
11: 103,071,781 (GRCm39) |
V96A |
probably damaging |
Het |
| Gabra1 |
T |
G |
11: 42,024,453 (GRCm39) |
E407D |
probably benign |
Het |
| Gm5277 |
A |
T |
3: 78,799,593 (GRCm39) |
|
noncoding transcript |
Het |
| H2-M10.5 |
A |
T |
17: 37,084,227 (GRCm39) |
E63V |
possibly damaging |
Het |
| Icam5 |
T |
A |
9: 20,945,993 (GRCm39) |
V275E |
probably damaging |
Het |
| Kel |
G |
A |
6: 41,665,000 (GRCm39) |
A588V |
possibly damaging |
Het |
| Klra5 |
T |
A |
6: 129,883,568 (GRCm39) |
E96D |
probably damaging |
Het |
| Limd1 |
C |
T |
9: 123,309,141 (GRCm39) |
T280I |
probably benign |
Het |
| Mul1 |
C |
A |
4: 138,165,628 (GRCm39) |
S95* |
probably null |
Het |
| Nlrp4a |
T |
C |
7: 26,156,473 (GRCm39) |
S733P |
probably benign |
Het |
| Ntn1 |
T |
A |
11: 68,104,098 (GRCm39) |
I517F |
possibly damaging |
Het |
| Ntrk3 |
T |
A |
7: 77,897,070 (GRCm39) |
M656L |
possibly damaging |
Het |
| Oacyl |
T |
G |
18: 65,858,572 (GRCm39) |
L226R |
possibly damaging |
Het |
| Or1ad6 |
A |
T |
11: 50,859,946 (GRCm39) |
M34L |
probably benign |
Het |
| Or4f61 |
A |
T |
2: 111,922,439 (GRCm39) |
N202K |
probably damaging |
Het |
| Or5ac17 |
A |
G |
16: 59,036,829 (GRCm39) |
I49T |
probably damaging |
Het |
| Pibf1 |
T |
A |
14: 99,416,885 (GRCm39) |
L486* |
probably null |
Het |
| Pla2g4c |
A |
G |
7: 13,074,583 (GRCm39) |
Y253C |
probably benign |
Het |
| Rims3 |
C |
A |
4: 120,748,583 (GRCm39) |
A268E |
probably benign |
Het |
| Rpl12 |
T |
C |
2: 32,853,759 (GRCm39) |
I129T |
probably benign |
Het |
| Rsl1 |
A |
T |
13: 67,329,862 (GRCm39) |
K103N |
probably benign |
Het |
| Scn11a |
A |
T |
9: 119,623,004 (GRCm39) |
W612R |
probably benign |
Het |
| Sdk2 |
G |
A |
11: 113,745,210 (GRCm39) |
T695M |
possibly damaging |
Het |
| Slc17a1 |
T |
A |
13: 24,062,437 (GRCm39) |
|
probably benign |
Het |
| Stam |
A |
T |
2: 14,120,779 (GRCm39) |
|
probably benign |
Het |
| Tacr3 |
T |
G |
3: 134,638,116 (GRCm39) |
N424K |
probably benign |
Het |
| Tas1r2 |
C |
T |
4: 139,387,347 (GRCm39) |
R240W |
probably damaging |
Het |
| Tle1 |
T |
C |
4: 72,040,637 (GRCm39) |
R648G |
probably damaging |
Het |
| Tmem92 |
T |
C |
11: 94,673,254 (GRCm39) |
D3G |
possibly damaging |
Het |
| Trip11 |
T |
C |
12: 101,860,596 (GRCm39) |
I250V |
probably null |
Het |
| Tspan8 |
C |
T |
10: 115,680,044 (GRCm39) |
|
probably benign |
Het |
| Vmn1r128 |
A |
G |
7: 21,084,001 (GRCm39) |
E235G |
probably benign |
Het |
| Vmn1r220 |
A |
G |
13: 23,368,558 (GRCm39) |
L46P |
probably damaging |
Het |
| Vmn2r9 |
T |
C |
5: 108,996,903 (GRCm39) |
E122G |
probably benign |
Het |
| Zfp27 |
A |
T |
7: 29,594,383 (GRCm39) |
N527K |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-04-17 |
Incidental Mutation