Incidental Mutation 'R0308:Dna2'
| ID |
24982 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dna2
|
| Ensembl Gene |
ENSMUSG00000036875 |
| Gene Name |
DNA replication helicase/nuclease 2 |
| Synonyms |
Dna2l, E130315B21Rik |
| MMRRC Submission |
038518-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0308 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
62782805-62809964 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62792753 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 256
(V256A)
|
| 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: V256A
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090119
Gene: ENSMUSG00000036875
AA Change: V256A
| 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: V256A
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000115750
Gene: ENSMUSG00000036875
AA Change: V256A
| 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 |
0.2824 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 95.1%
- 20x: 89.5%
|
| Validation Efficiency |
100% (82/82) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
T |
4: 39,450,989 (GRCm39) |
D65V |
probably damaging |
Het |
| 4933407L21Rik |
A |
T |
1: 85,859,007 (GRCm39) |
|
probably benign |
Het |
| Abcc12 |
C |
T |
8: 87,284,381 (GRCm39) |
|
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,311,646 (GRCm39) |
E1301G |
probably damaging |
Het |
| Adh4 |
A |
T |
3: 138,129,863 (GRCm39) |
N230Y |
probably damaging |
Het |
| Anapc15-ps |
T |
A |
10: 95,508,954 (GRCm39) |
M109L |
probably benign |
Het |
| Angpt2 |
T |
C |
8: 18,742,141 (GRCm39) |
I472V |
possibly damaging |
Het |
| Arhgef26 |
C |
A |
3: 62,247,820 (GRCm39) |
D301E |
probably benign |
Het |
| Armc10 |
G |
A |
5: 21,852,295 (GRCm39) |
|
probably benign |
Het |
| Atm |
T |
C |
9: 53,365,773 (GRCm39) |
|
probably null |
Het |
| Atp5f1b |
T |
C |
10: 127,921,908 (GRCm39) |
V265A |
probably benign |
Het |
| Atp8b1 |
G |
T |
18: 64,678,315 (GRCm39) |
C860* |
probably null |
Het |
| Atrnl1 |
T |
G |
19: 57,741,720 (GRCm39) |
S1160A |
probably benign |
Het |
| Bmal1 |
A |
T |
7: 112,890,743 (GRCm39) |
I179F |
probably damaging |
Het |
| Cep55 |
A |
G |
19: 38,048,659 (GRCm39) |
E105G |
possibly damaging |
Het |
| Cfap54 |
C |
A |
10: 92,721,226 (GRCm39) |
D2502Y |
unknown |
Het |
| Cilp2 |
A |
G |
8: 70,335,643 (GRCm39) |
S452P |
probably benign |
Het |
| Clptm1l |
A |
G |
13: 73,759,786 (GRCm39) |
D282G |
possibly damaging |
Het |
| Csrp1 |
C |
A |
1: 135,673,024 (GRCm39) |
T47N |
probably damaging |
Het |
| Cyp2c40 |
T |
A |
19: 39,766,432 (GRCm39) |
I388F |
probably damaging |
Het |
| Dars1 |
C |
T |
1: 128,291,996 (GRCm39) |
R494H |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,873,051 (GRCm39) |
T1132A |
probably benign |
Het |
| Dpcd |
T |
G |
19: 45,565,445 (GRCm39) |
F140V |
probably damaging |
Het |
| Elk3 |
A |
T |
10: 93,101,067 (GRCm39) |
M228K |
probably benign |
Het |
| Erich6 |
A |
G |
3: 58,543,525 (GRCm39) |
F182L |
probably damaging |
Het |
| Fhad1 |
A |
G |
4: 141,712,904 (GRCm39) |
|
probably benign |
Het |
| Fryl |
A |
T |
5: 73,198,947 (GRCm39) |
|
probably benign |
Het |
| Fzd9 |
A |
T |
5: 135,278,260 (GRCm39) |
C542S |
probably damaging |
Het |
| Gba1 |
A |
G |
3: 89,115,671 (GRCm39) |
T460A |
probably benign |
Het |
| Gli2 |
C |
T |
1: 118,769,792 (GRCm39) |
A587T |
probably benign |
Het |
| Gm11011 |
C |
T |
2: 169,424,614 (GRCm39) |
|
probably benign |
Het |
| Gmppb |
A |
G |
9: 107,927,033 (GRCm39) |
E68G |
probably benign |
Het |
| Gpld1 |
A |
G |
13: 25,146,818 (GRCm39) |
N260S |
possibly damaging |
Het |
| Hipk3 |
G |
A |
2: 104,263,552 (GRCm39) |
S900L |
probably damaging |
Het |
| Idi2l |
T |
G |
13: 8,990,877 (GRCm39) |
|
probably benign |
Het |
| Ints6l |
A |
T |
X: 55,526,715 (GRCm39) |
M215L |
possibly damaging |
Het |
| Irx6 |
T |
A |
8: 93,403,659 (GRCm39) |
L128Q |
probably damaging |
Het |
| Itga10 |
T |
C |
3: 96,558,780 (GRCm39) |
S373P |
probably damaging |
Het |
| Jak1 |
T |
C |
4: 101,011,732 (GRCm39) |
|
probably null |
Het |
| Jak2 |
C |
T |
19: 29,289,157 (GRCm39) |
T1103I |
probably benign |
Het |
| Katnal1 |
A |
T |
5: 148,815,734 (GRCm39) |
V401D |
possibly damaging |
Het |
| Krbox5 |
A |
G |
13: 67,991,232 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,313,326 (GRCm39) |
|
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,710,738 (GRCm39) |
H7R |
probably benign |
Het |
| Mrgprx3-ps |
A |
G |
7: 46,959,766 (GRCm39) |
V75A |
probably benign |
Het |
| Nol6 |
C |
T |
4: 41,123,584 (GRCm39) |
A55T |
probably benign |
Het |
| Opa1 |
G |
A |
16: 29,440,349 (GRCm39) |
R818Q |
probably damaging |
Het |
| Opn4 |
T |
C |
14: 34,319,081 (GRCm39) |
Y168C |
possibly damaging |
Het |
| Or8b35 |
A |
G |
9: 37,904,141 (GRCm39) |
I118V |
probably benign |
Het |
| Phf21a |
T |
C |
2: 92,161,122 (GRCm39) |
V330A |
possibly damaging |
Het |
| Phykpl |
A |
G |
11: 51,484,423 (GRCm39) |
|
probably benign |
Het |
| Plcb1 |
T |
G |
2: 134,655,534 (GRCm39) |
V38G |
probably benign |
Het |
| Plxna4 |
T |
A |
6: 32,214,703 (GRCm39) |
T593S |
probably benign |
Het |
| Poll |
A |
T |
19: 45,544,404 (GRCm39) |
I339N |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,700,890 (GRCm39) |
I1796V |
probably benign |
Het |
| Rnf103 |
G |
A |
6: 71,486,686 (GRCm39) |
R439H |
probably damaging |
Het |
| Rrn3 |
G |
A |
16: 13,617,746 (GRCm39) |
|
probably benign |
Het |
| Sec14l4 |
G |
A |
11: 3,991,726 (GRCm39) |
|
probably benign |
Het |
| Sec23a |
A |
C |
12: 59,053,985 (GRCm39) |
Y4* |
probably null |
Het |
| Senp6 |
T |
C |
9: 80,040,265 (GRCm39) |
|
probably null |
Het |
| Serpinb6b |
A |
T |
13: 33,162,220 (GRCm39) |
N221Y |
probably benign |
Het |
| Slc6a2 |
A |
G |
8: 93,687,988 (GRCm39) |
E38G |
possibly damaging |
Het |
| Smap1 |
A |
T |
1: 23,888,423 (GRCm39) |
L196I |
probably damaging |
Het |
| Sorbs2 |
C |
T |
8: 46,248,167 (GRCm39) |
Q473* |
probably null |
Het |
| Sphkap |
C |
A |
1: 83,254,690 (GRCm39) |
V1020F |
probably damaging |
Het |
| Srfbp1 |
T |
C |
18: 52,621,614 (GRCm39) |
V225A |
probably benign |
Het |
| Srprb |
G |
A |
9: 103,079,204 (GRCm39) |
P728S |
possibly damaging |
Het |
| Tarm1 |
T |
C |
7: 3,545,187 (GRCm39) |
|
probably benign |
Het |
| Tcp1 |
T |
A |
17: 13,139,306 (GRCm39) |
I162N |
probably benign |
Het |
| Tmem237 |
C |
A |
1: 59,146,676 (GRCm39) |
A292S |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Tnpo1 |
A |
G |
13: 98,983,011 (GRCm39) |
F884L |
probably damaging |
Het |
| Trim7 |
A |
G |
11: 48,740,328 (GRCm39) |
T142A |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,616,024 (GRCm39) |
I14894F |
probably damaging |
Het |
| Tubgcp6 |
T |
C |
15: 89,006,639 (GRCm39) |
R128G |
possibly damaging |
Het |
| Ube2d2b |
A |
G |
5: 107,978,774 (GRCm39) |
T142A |
possibly damaging |
Het |
| Unc13c |
G |
T |
9: 73,388,400 (GRCm39) |
L2129I |
probably benign |
Het |
| Ushbp1 |
T |
C |
8: 71,843,697 (GRCm39) |
D247G |
probably damaging |
Het |
| Usp43 |
G |
A |
11: 67,770,966 (GRCm39) |
A556V |
probably damaging |
Het |
| Zfp438 |
T |
A |
18: 5,213,638 (GRCm39) |
H440L |
probably benign |
Het |
| Zfp518b |
C |
T |
5: 38,830,113 (GRCm39) |
E631K |
possibly 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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGCTGAGCAGTGGGATTTG -3'
(R):5'- AAATGTCATACCTGACTCCGGTGC -3'
Sequencing Primer
(F):5'- AACACAGGGCACCTTTTTTGG -3'
(R):5'- TGACTCCGGTGCTCGATG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation