Incidental Mutation 'R7513:Dna2'
| ID |
582232 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dna2
|
| Ensembl Gene |
ENSMUSG00000036875 |
| Gene Name |
DNA replication helicase/nuclease 2 |
| Synonyms |
Dna2l, E130315B21Rik |
| MMRRC Submission |
045586-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7513 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
62782805-62809964 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62807747 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1033
(D1033G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092462]
[ENSMUST00000131422]
|
| AlphaFold |
Q6ZQJ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092462
|
| SMART Domains |
Protein: ENSMUSP00000090119
Gene: ENSMUSG00000036875
| 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 |
probably benign
Transcript: ENSMUST00000131422
AA Change: D1033G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000115750
Gene: ENSMUSG00000036875
AA Change: D1033G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
G |
A |
5: 8,765,771 (GRCm39) |
W694* |
probably null |
Het |
| Accs |
T |
C |
2: 93,670,437 (GRCm39) |
N256S |
possibly damaging |
Het |
| Agmo |
C |
T |
12: 37,294,352 (GRCm39) |
T100I |
probably benign |
Het |
| Alox8 |
T |
C |
11: 69,078,670 (GRCm39) |
D341G |
probably benign |
Het |
| Apol7c |
T |
A |
15: 77,409,911 (GRCm39) |
E345V |
possibly damaging |
Het |
| Arl5a |
A |
G |
2: 52,302,157 (GRCm39) |
F86L |
possibly damaging |
Het |
| AU040320 |
A |
G |
4: 126,686,057 (GRCm39) |
E211G |
probably benign |
Het |
| B020011L13Rik |
T |
A |
1: 117,729,149 (GRCm39) |
C219S |
probably damaging |
Het |
| Btaf1 |
T |
A |
19: 36,955,803 (GRCm39) |
L579Q |
probably benign |
Het |
| Cd84 |
T |
A |
1: 171,712,185 (GRCm39) |
V267E |
probably benign |
Het |
| Cdcp3 |
G |
A |
7: 130,873,800 (GRCm39) |
G1709R |
unknown |
Het |
| Clec11a |
T |
C |
7: 43,955,780 (GRCm39) |
E89G |
probably benign |
Het |
| Csrnp2 |
C |
A |
15: 100,380,297 (GRCm39) |
E331D |
probably benign |
Het |
| Cyp2d12 |
C |
A |
15: 82,442,621 (GRCm39) |
H355N |
probably benign |
Het |
| Ddx24 |
C |
A |
12: 103,385,365 (GRCm39) |
G413* |
probably null |
Het |
| Dhx38 |
G |
A |
8: 110,287,221 (GRCm39) |
P249L |
probably benign |
Het |
| Dip2a |
A |
T |
10: 76,149,069 (GRCm39) |
M233K |
probably benign |
Het |
| Dip2b |
T |
A |
15: 100,105,629 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
T |
C |
7: 130,692,242 (GRCm39) |
S1003P |
unknown |
Het |
| Dnah5 |
T |
C |
15: 28,370,561 (GRCm39) |
S2834P |
probably benign |
Het |
| Dnah7b |
T |
G |
1: 46,163,506 (GRCm39) |
S437A |
probably benign |
Het |
| Eif5 |
A |
T |
12: 111,506,686 (GRCm39) |
I93F |
probably damaging |
Het |
| Fbxo47 |
A |
G |
11: 97,747,055 (GRCm39) |
F337S |
probably damaging |
Het |
| Helz |
T |
C |
11: 107,546,941 (GRCm39) |
I1086T |
probably damaging |
Het |
| Ifi208 |
A |
T |
1: 173,523,220 (GRCm39) |
R497* |
probably null |
Het |
| Igfn1 |
T |
G |
1: 135,887,705 (GRCm39) |
D2453A |
probably damaging |
Het |
| Ighg2c |
A |
T |
12: 113,252,471 (GRCm39) |
L27Q |
|
Het |
| Jak1 |
C |
T |
4: 101,048,848 (GRCm39) |
C10Y |
probably damaging |
Het |
| Kif7 |
T |
A |
7: 79,360,776 (GRCm39) |
N200Y |
possibly damaging |
Het |
| Ktn1 |
G |
C |
14: 47,901,541 (GRCm39) |
A100P |
possibly damaging |
Het |
| Lrsam1 |
T |
C |
2: 32,843,497 (GRCm39) |
D136G |
probably benign |
Het |
| Man2c1 |
T |
C |
9: 57,046,683 (GRCm39) |
L648P |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,294,952 (GRCm39) |
I3116V |
probably benign |
Het |
| Mmp10 |
A |
T |
9: 7,508,128 (GRCm39) |
D418V |
probably damaging |
Het |
| Mrpl24 |
A |
T |
3: 87,829,734 (GRCm39) |
T107S |
probably benign |
Het |
| Mycbpap |
T |
A |
11: 94,394,382 (GRCm39) |
D296V |
probably damaging |
Het |
| Mycn |
C |
A |
12: 12,989,743 (GRCm39) |
A218S |
probably benign |
Het |
| Myo1f |
G |
T |
17: 33,794,788 (GRCm39) |
W9C |
probably damaging |
Het |
| Nckap1 |
T |
A |
2: 80,332,635 (GRCm39) |
K1074N |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,099,552 (GRCm39) |
D4766G |
possibly damaging |
Het |
| Nhsl1 |
T |
C |
10: 18,399,700 (GRCm39) |
S275P |
probably damaging |
Het |
| Or2d3c |
A |
G |
7: 106,526,483 (GRCm39) |
F61S |
possibly damaging |
Het |
| Or5k16 |
T |
A |
16: 58,736,295 (GRCm39) |
K236N |
probably damaging |
Het |
| Pam |
G |
A |
1: 97,780,910 (GRCm39) |
P514S |
possibly damaging |
Het |
| Pcdha4 |
C |
T |
18: 37,086,392 (GRCm39) |
L192F |
probably damaging |
Het |
| Per1 |
T |
A |
11: 68,996,397 (GRCm39) |
D800E |
probably benign |
Het |
| Plcg2 |
C |
A |
8: 118,306,592 (GRCm39) |
N315K |
probably damaging |
Het |
| Plxnb2 |
T |
A |
15: 89,042,525 (GRCm39) |
|
probably null |
Het |
| Pnpla1 |
A |
G |
17: 29,077,781 (GRCm39) |
|
probably benign |
Het |
| Pptc7 |
A |
T |
5: 122,446,192 (GRCm39) |
|
probably null |
Het |
| Psg26 |
G |
T |
7: 18,209,225 (GRCm39) |
S394R |
probably benign |
Het |
| Psmc1 |
C |
A |
12: 100,081,773 (GRCm39) |
T125K |
probably benign |
Het |
| Ptgis |
T |
A |
2: 167,067,203 (GRCm39) |
M125L |
probably benign |
Het |
| Rbms1 |
A |
G |
2: 60,589,165 (GRCm39) |
Y323H |
probably damaging |
Het |
| Rgl2 |
G |
A |
17: 34,151,529 (GRCm39) |
R191Q |
probably benign |
Het |
| Sirpb1a |
G |
A |
3: 15,476,503 (GRCm39) |
T98I |
possibly damaging |
Het |
| Sirpb1b |
C |
A |
3: 15,607,200 (GRCm39) |
E361* |
probably null |
Het |
| Slc13a4 |
A |
T |
6: 35,260,272 (GRCm39) |
|
probably null |
Het |
| Spag9 |
T |
C |
11: 94,002,909 (GRCm39) |
S1140P |
probably damaging |
Het |
| Spata31e4 |
T |
A |
13: 50,856,909 (GRCm39) |
I849N |
probably benign |
Het |
| Tas2r140 |
A |
G |
6: 40,469,084 (GRCm39) |
N305D |
probably damaging |
Het |
| Tenm2 |
G |
A |
11: 35,942,727 (GRCm39) |
A1314V |
probably benign |
Het |
| Tgm3 |
A |
G |
2: 129,866,324 (GRCm39) |
T81A |
probably benign |
Het |
| Timeless |
T |
C |
10: 128,085,399 (GRCm39) |
V839A |
probably damaging |
Het |
| Tmem132a |
A |
G |
19: 10,837,492 (GRCm39) |
I606T |
probably damaging |
Het |
| Tox |
T |
A |
4: 6,741,507 (GRCm39) |
M158L |
probably benign |
Het |
| Trpc2 |
A |
T |
7: 101,739,275 (GRCm39) |
M549L |
probably damaging |
Het |
| Trpm5 |
C |
T |
7: 142,635,572 (GRCm39) |
R600Q |
possibly damaging |
Het |
| Trpv1 |
A |
G |
11: 73,131,367 (GRCm39) |
N302D |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,681,940 (GRCm39) |
R1019H |
|
Het |
| Ttn |
G |
T |
2: 76,775,307 (GRCm39) |
H1958N |
unknown |
Het |
| Usp32 |
A |
T |
11: 84,917,938 (GRCm39) |
Y769* |
probably null |
Het |
| Vim |
A |
T |
2: 13,583,443 (GRCm39) |
Q255L |
possibly damaging |
Het |
| Vmn1r84 |
T |
C |
7: 12,095,994 (GRCm39) |
H233R |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,341,108 (GRCm39) |
H1116Q |
possibly damaging |
Het |
| Zc3h18 |
G |
T |
8: 123,134,993 (GRCm39) |
R580L |
unknown |
Het |
| Zfp267 |
T |
A |
3: 36,218,792 (GRCm39) |
F272I |
possibly damaging |
Het |
| Zfp442 |
A |
T |
2: 150,250,676 (GRCm39) |
C409S |
unknown |
Het |
| Zfy1 |
A |
T |
Y: 759,852 (GRCm39) |
I20K |
unknown |
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 |
|
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 |
|
|
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'- ATAGCACACTGGGTCATGC -3'
(R):5'- ACGGCTGGACAAAACTTCC -3'
Sequencing Primer
(F):5'- CCTAGTACCTAGAAATTGGAGGCC -3'
(R):5'- CCTGTGAAGTGTCAAACTGATCTCTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation