Incidental Mutation 'R0669:Dna2'
| ID |
62145 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dna2
|
| Ensembl Gene |
ENSMUSG00000036875 |
| Gene Name |
DNA replication helicase/nuclease 2 |
| Synonyms |
Dna2l, E130315B21Rik |
| MMRRC Submission |
038854-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0669 (G1)
|
| Quality Score |
224 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
62782805-62809964 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62792768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 261
(D261G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092462]
[ENSMUST00000131422]
|
| AlphaFold |
Q6ZQJ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092462
AA Change: D261G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090119
Gene: ENSMUSG00000036875
AA Change: D261G
| 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 damaging
Transcript: ENSMUST00000131422
AA Change: D261G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115750
Gene: ENSMUSG00000036875
AA Change: D261G
| 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 |
0.9384 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.8%
|
| Validation Efficiency |
99% (80/81) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
A |
11: 72,089,671 (GRCm39) |
H71L |
possibly damaging |
Het |
| Abcb11 |
C |
A |
2: 69,159,662 (GRCm39) |
V10L |
probably benign |
Het |
| Abcb9 |
T |
C |
5: 124,200,950 (GRCm39) |
T689A |
probably damaging |
Het |
| Adam22 |
A |
G |
5: 8,193,036 (GRCm39) |
|
probably benign |
Het |
| Adamts5 |
A |
G |
16: 85,696,614 (GRCm39) |
I181T |
probably benign |
Het |
| Adamts9 |
A |
T |
6: 92,857,938 (GRCm39) |
V231D |
probably damaging |
Het |
| Angptl6 |
C |
T |
9: 20,787,823 (GRCm39) |
V197M |
probably damaging |
Het |
| Atp6v1c1 |
T |
C |
15: 38,677,772 (GRCm39) |
V99A |
probably benign |
Het |
| Cacna2d3 |
A |
G |
14: 29,189,906 (GRCm39) |
V110A |
probably benign |
Het |
| Ccdc32 |
A |
G |
2: 118,849,648 (GRCm39) |
|
probably benign |
Het |
| Cela3b |
T |
C |
4: 137,155,841 (GRCm39) |
H22R |
probably benign |
Het |
| Cep44 |
T |
C |
8: 56,994,008 (GRCm39) |
T190A |
possibly damaging |
Het |
| Chsy1 |
T |
C |
7: 65,821,435 (GRCm39) |
C557R |
probably damaging |
Het |
| Cntd1 |
A |
G |
11: 101,178,324 (GRCm39) |
T308A |
probably damaging |
Het |
| Cutal |
T |
C |
2: 34,775,878 (GRCm39) |
|
probably benign |
Het |
| Dipk1b |
A |
G |
2: 26,524,878 (GRCm39) |
T93A |
probably benign |
Het |
| Dnhd1 |
T |
A |
7: 105,342,911 (GRCm39) |
S1418R |
probably benign |
Het |
| Dnpep |
A |
G |
1: 75,288,422 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,875,716 (GRCm39) |
Y1075N |
probably benign |
Het |
| Eif2s1 |
C |
T |
12: 78,928,012 (GRCm39) |
|
probably benign |
Het |
| Ess2 |
T |
C |
16: 17,725,419 (GRCm39) |
Y221C |
probably damaging |
Het |
| Fer1l6 |
T |
C |
15: 58,425,573 (GRCm39) |
|
probably null |
Het |
| Gm5592 |
T |
C |
7: 40,805,254 (GRCm39) |
|
probably benign |
Het |
| Ipp |
A |
G |
4: 116,395,073 (GRCm39) |
Y536C |
probably damaging |
Het |
| Krt72 |
T |
C |
15: 101,686,740 (GRCm39) |
E402G |
probably damaging |
Het |
| Lamb3 |
T |
C |
1: 193,014,638 (GRCm39) |
L599P |
probably damaging |
Het |
| Lingo2 |
T |
A |
4: 35,709,120 (GRCm39) |
T287S |
probably benign |
Het |
| Lipo3 |
T |
A |
19: 33,537,025 (GRCm39) |
T232S |
probably benign |
Het |
| Lrrc63 |
G |
A |
14: 75,363,550 (GRCm39) |
H194Y |
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,725,274 (GRCm39) |
T416A |
probably benign |
Het |
| Mcm3 |
A |
T |
1: 20,875,153 (GRCm39) |
|
probably null |
Het |
| Mms22l |
T |
C |
4: 24,517,223 (GRCm39) |
V258A |
probably benign |
Het |
| Mrpl46 |
A |
T |
7: 78,432,631 (GRCm39) |
L49* |
probably null |
Het |
| Mrs2 |
T |
C |
13: 25,177,742 (GRCm39) |
T369A |
possibly damaging |
Het |
| Mtrf1 |
T |
A |
14: 79,656,708 (GRCm39) |
Y403* |
probably null |
Het |
| Muc20 |
G |
A |
16: 32,614,850 (GRCm39) |
P176S |
unknown |
Het |
| Mup21 |
C |
T |
4: 62,068,964 (GRCm39) |
C9Y |
unknown |
Het |
| Mup-ps21 |
A |
T |
4: 61,949,007 (GRCm39) |
|
noncoding transcript |
Het |
| Mybph |
T |
G |
1: 134,125,081 (GRCm39) |
|
probably null |
Het |
| Mypn |
A |
G |
10: 62,970,702 (GRCm39) |
|
probably benign |
Het |
| Nav2 |
T |
C |
7: 49,058,431 (GRCm39) |
S124P |
probably damaging |
Het |
| Nrros |
T |
C |
16: 31,962,241 (GRCm39) |
D556G |
probably damaging |
Het |
| Numa1 |
A |
C |
7: 101,648,884 (GRCm39) |
I872L |
probably benign |
Het |
| Or14c40 |
A |
G |
7: 86,313,544 (GRCm39) |
I225V |
possibly damaging |
Het |
| Or2a7 |
C |
T |
6: 43,150,938 (GRCm39) |
T6I |
probably benign |
Het |
| Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
| Or4c11 |
A |
T |
2: 88,695,272 (GRCm39) |
M108L |
probably benign |
Het |
| Or5p52 |
T |
A |
7: 107,502,446 (GRCm39) |
I174K |
probably damaging |
Het |
| Pcdhb9 |
A |
T |
18: 37,535,308 (GRCm39) |
N434I |
probably damaging |
Het |
| Pigq |
A |
T |
17: 26,155,736 (GRCm39) |
|
probably null |
Het |
| Plxna2 |
T |
G |
1: 194,471,145 (GRCm39) |
V972G |
probably damaging |
Het |
| Psma3 |
G |
A |
12: 71,035,269 (GRCm39) |
|
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,703,975 (GRCm39) |
T1336A |
probably benign |
Het |
| Rdh7 |
T |
C |
10: 127,720,598 (GRCm39) |
D258G |
probably benign |
Het |
| Serpinb6c |
A |
G |
13: 34,083,252 (GRCm39) |
I54T |
probably damaging |
Het |
| Sh2d7 |
A |
T |
9: 54,448,633 (GRCm39) |
Y218F |
probably benign |
Het |
| Shfl |
AGAGGAGGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGAGGAGGA |
9: 20,785,013 (GRCm39) |
|
probably benign |
Het |
| Slc12a8 |
A |
T |
16: 33,371,274 (GRCm39) |
I137F |
possibly damaging |
Het |
| Smarca2 |
T |
C |
19: 26,683,600 (GRCm39) |
V1153A |
possibly damaging |
Het |
| Smc6 |
A |
T |
12: 11,339,165 (GRCm39) |
I334L |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,230,380 (GRCm39) |
|
probably benign |
Het |
| Taar8c |
A |
G |
10: 23,977,401 (GRCm39) |
L137P |
probably damaging |
Het |
| Tcam1 |
A |
T |
11: 106,176,252 (GRCm39) |
D326V |
possibly damaging |
Het |
| Telo2 |
A |
T |
17: 25,324,797 (GRCm39) |
V461D |
probably benign |
Het |
| Tmprss7 |
A |
T |
16: 45,498,325 (GRCm39) |
C351* |
probably null |
Het |
| Trim66 |
T |
A |
7: 109,054,199 (GRCm39) |
|
probably benign |
Het |
| Ube2d1 |
G |
T |
10: 71,097,940 (GRCm39) |
H32N |
probably benign |
Het |
| Ubp1 |
T |
C |
9: 113,793,736 (GRCm39) |
|
probably benign |
Het |
| Vma21 |
C |
T |
X: 70,863,763 (GRCm39) |
T81M |
probably damaging |
Het |
| Vmn1r113 |
T |
C |
7: 20,521,345 (GRCm39) |
S46P |
probably benign |
Het |
| Wars1 |
T |
C |
12: 108,831,944 (GRCm39) |
S374G |
probably benign |
Het |
| Wbp1 |
T |
C |
6: 83,096,326 (GRCm39) |
D277G |
possibly damaging |
Het |
| Zfp939 |
C |
A |
7: 39,123,209 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGCTGAGCAGTGGGATTTG -3'
(R):5'- AAATGTCATACCTGACTCCGGTGC -3'
Sequencing Primer
(F):5'- AACACAGGGCACCTTTTTTGG -3'
(R):5'- TGACTCCGGTGCTCGATG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation