Incidental Mutation 'R9457:Dna2'
| ID |
714657 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dna2
|
| Ensembl Gene |
ENSMUSG00000036875 |
| Gene Name |
DNA replication helicase/nuclease 2 |
| Synonyms |
E130315B21Rik, Dna2l |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9457 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
62947026-62974185 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 62950793 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 107
(E107K)
|
| 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: E107K
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000090119
Gene: ENSMUSG00000036875
AA Change: E107K
| 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: E107K
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000115750
Gene: ENSMUSG00000036875
AA Change: E107K
| 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: 99.7%
- 20x: 99.1%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930430A15Rik |
A |
T |
2: 111,170,286 (GRCm38) |
M196K |
unknown |
Het |
| A930009A15Rik |
T |
C |
10: 115,578,331 (GRCm38) |
L54P |
unknown |
Het |
| Ablim3 |
A |
G |
18: 61,845,849 (GRCm38) |
S204P |
probably benign |
Het |
| Acadl |
A |
G |
1: 66,853,241 (GRCm38) |
V141A |
probably benign |
Het |
| Ace3 |
A |
G |
11: 105,994,861 (GRCm38) |
D31G |
probably benign |
Het |
| Acte1 |
T |
C |
7: 143,883,976 (GRCm38) |
V137A |
possibly damaging |
Het |
| Adam11 |
T |
G |
11: 102,769,898 (GRCm38) |
V85G |
probably benign |
Het |
| Adarb1 |
A |
T |
10: 77,322,148 (GRCm38) |
M155K |
possibly damaging |
Het |
| Arhgap10 |
G |
A |
8: 77,384,786 (GRCm38) |
T376M |
probably benign |
Het |
| Bod1l |
G |
T |
5: 41,821,967 (GRCm38) |
T668K |
probably damaging |
Het |
| Ccdc87 |
A |
G |
19: 4,841,631 (GRCm38) |
E717G |
probably damaging |
Het |
| Cdh17 |
T |
A |
4: 11,771,329 (GRCm38) |
I37N |
probably damaging |
Het |
| Cfap99 |
T |
G |
5: 34,301,397 (GRCm38) |
F45L |
probably benign |
Het |
| Chsy1 |
C |
A |
7: 66,172,400 (GRCm38) |
H794Q |
probably benign |
Het |
| Clec4a3 |
G |
A |
6: 122,954,086 (GRCm38) |
V45I |
probably benign |
Het |
| Clic3 |
G |
A |
2: 25,457,718 (GRCm38) |
V32I |
probably benign |
Het |
| Clip2 |
A |
T |
5: 134,502,730 (GRCm38) |
D740E |
probably benign |
Het |
| Col5a2 |
C |
T |
1: 45,386,844 (GRCm38) |
V1062I |
probably benign |
Het |
| Col5a2 |
A |
G |
1: 45,392,813 (GRCm38) |
|
probably null |
Het |
| Cyp2j11 |
C |
T |
4: 96,307,359 (GRCm38) |
V367I |
probably damaging |
Het |
| Ddr1 |
C |
T |
17: 35,682,758 (GRCm38) |
A821T |
possibly damaging |
Het |
| Eif3d |
A |
G |
15: 77,959,694 (GRCm38) |
V484A |
probably benign |
Het |
| Fgfr4 |
A |
G |
13: 55,161,127 (GRCm38) |
T354A |
probably benign |
Het |
| Fkbp6 |
T |
C |
5: 135,349,632 (GRCm38) |
D54G |
probably benign |
Het |
| Gm4787 |
T |
A |
12: 81,379,246 (GRCm38) |
E46V |
probably damaging |
Het |
| Gm47995 |
A |
G |
1: 151,198,475 (GRCm38) |
T10A |
possibly damaging |
Het |
| Gnb1l |
T |
A |
16: 18,540,995 (GRCm38) |
I50N |
probably damaging |
Het |
| Gphb5 |
A |
T |
12: 75,415,749 (GRCm38) |
V22D |
probably damaging |
Het |
| Gstt4 |
C |
T |
10: 75,815,125 (GRCm38) |
C221Y |
probably benign |
Het |
| Hmces |
T |
C |
6: 87,933,274 (GRCm38) |
V222A |
possibly damaging |
Het |
| Kat14 |
T |
A |
2: 144,373,782 (GRCm38) |
D62E |
probably benign |
Het |
| Kcnmb2 |
T |
A |
3: 32,181,869 (GRCm38) |
V89E |
probably benign |
Het |
| Kif23 |
T |
A |
9: 61,944,225 (GRCm38) |
N63I |
probably benign |
Het |
| Lamc2 |
T |
C |
1: 153,139,854 (GRCm38) |
M578V |
probably benign |
Het |
| Ltbp2 |
A |
T |
12: 84,789,153 (GRCm38) |
C1335S |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,687,745 (GRCm38) |
E2622G |
possibly damaging |
Het |
| Mctp1 |
A |
T |
13: 76,384,674 (GRCm38) |
H47L |
probably benign |
Het |
| Micalcl |
A |
G |
7: 112,411,458 (GRCm38) |
K618R |
probably damaging |
Het |
| Mllt6 |
T |
C |
11: 97,665,760 (GRCm38) |
I92T |
probably benign |
Het |
| Morc2a |
A |
G |
11: 3,676,184 (GRCm38) |
I223V |
probably benign |
Het |
| Msh3 |
A |
T |
13: 92,345,086 (GRCm38) |
I306N |
probably benign |
Het |
| Myo3b |
T |
A |
2: 70,095,209 (GRCm38) |
S35T |
probably benign |
Het |
| Nfkbiz |
A |
T |
16: 55,813,984 (GRCm38) |
V700E |
probably damaging |
Het |
| Oit3 |
T |
A |
10: 59,441,683 (GRCm38) |
M1L |
unknown |
Het |
| Or4c1 |
A |
T |
2: 89,302,731 (GRCm38) |
I287N |
probably damaging |
Het |
| Or51l14 |
T |
A |
7: 103,451,411 (GRCm38) |
F25I |
probably benign |
Het |
| Or8k17 |
A |
T |
2: 86,236,472 (GRCm38) |
I114K |
probably damaging |
Het |
| Peg3 |
T |
G |
7: 6,707,999 (GRCm38) |
D1408A |
probably damaging |
Het |
| Plaa |
A |
C |
4: 94,586,883 (GRCm38) |
S201R |
possibly damaging |
Het |
| Psmd5 |
A |
G |
2: 34,854,326 (GRCm38) |
S395P |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,334,554 (GRCm38) |
I1701V |
probably damaging |
Het |
| Rmc1 |
A |
G |
18: 12,179,246 (GRCm38) |
H181R |
probably benign |
Het |
| Rnf32 |
G |
A |
5: 29,206,186 (GRCm38) |
A157T |
probably damaging |
Het |
| Rrad |
T |
A |
8: 104,629,727 (GRCm38) |
|
probably null |
Het |
| Samm50 |
T |
A |
15: 84,207,841 (GRCm38) |
L339Q |
probably damaging |
Het |
| Scin |
T |
C |
12: 40,104,958 (GRCm38) |
E212G |
possibly damaging |
Het |
| Scrib |
T |
C |
15: 76,067,299 (GRCm38) |
D146G |
probably damaging |
Het |
| Slc19a1 |
G |
A |
10: 77,049,771 (GRCm38) |
D502N |
probably benign |
Het |
| Slc4a4 |
T |
C |
5: 89,214,573 (GRCm38) |
S839P |
probably damaging |
Het |
| Slc4a8 |
A |
G |
15: 100,806,260 (GRCm38) |
D764G |
probably damaging |
Het |
| Slc6a19 |
G |
A |
13: 73,681,765 (GRCm38) |
A590V |
probably damaging |
Het |
| Slfn8 |
G |
T |
11: 83,017,706 (GRCm38) |
H4N |
probably benign |
Het |
| Smad9 |
T |
A |
3: 54,789,335 (GRCm38) |
F274I |
possibly damaging |
Het |
| Snx4 |
A |
G |
16: 33,286,010 (GRCm38) |
E271G |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,286,739 (GRCm38) |
V3479A |
probably benign |
Het |
| Tektip1 |
C |
A |
10: 81,365,777 (GRCm38) |
V4L |
probably benign |
Het |
| Thap4 |
G |
A |
1: 93,750,306 (GRCm38) |
R253* |
probably null |
Het |
| Tmem65 |
T |
A |
15: 58,790,179 (GRCm38) |
I144F |
|
Het |
| Tnrc6a |
G |
A |
7: 123,179,735 (GRCm38) |
R1223Q |
probably benign |
Het |
| Traf7 |
CA |
CAA |
17: 24,527,763 (GRCm38) |
|
probably benign |
Het |
| Trpm2 |
T |
C |
10: 77,911,392 (GRCm38) |
Y1424C |
possibly damaging |
Het |
| Trrap |
T |
A |
5: 144,826,668 (GRCm38) |
Y2457N |
probably damaging |
Het |
| Vmn1r7 |
A |
G |
6: 57,024,523 (GRCm38) |
S251P |
probably damaging |
Het |
| Vmn2r89 |
A |
T |
14: 51,456,012 (GRCm38) |
E273V |
probably damaging |
Het |
| Vps52 |
A |
G |
17: 33,962,182 (GRCm38) |
D466G |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,515,632 (GRCm38) |
V2739A |
probably benign |
Het |
| Zc3h4 |
C |
T |
7: 16,434,750 (GRCm38) |
S1003F |
unknown |
Het |
| Zyg11a |
A |
T |
4: 108,217,905 (GRCm38) |
H6Q |
probably damaging |
Het |
|
| Other mutations in Dna2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00329:Dna2
|
APN |
10 |
62,966,443 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00972:Dna2
|
APN |
10 |
62,950,823 (GRCm38) |
missense |
probably benign |
0.13 |
|
IGL01511:Dna2
|
APN |
10 |
62,955,314 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
IGL01600:Dna2
|
APN |
10 |
62,950,806 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02016:Dna2
|
APN |
10 |
62,960,412 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02049:Dna2
|
APN |
10 |
62,957,036 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02069:Dna2
|
APN |
10 |
62,958,994 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02438:Dna2
|
APN |
10 |
62,957,062 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02743:Dna2
|
APN |
10 |
62,957,042 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL02800:Dna2
|
APN |
10 |
62,961,725 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02936:Dna2
|
APN |
10 |
62,957,100 (GRCm38) |
missense |
probably damaging |
1.00 |
|
supercoiled
|
UTSW |
10 |
62,971,993 (GRCm38) |
splice site |
probably null |
|
|
R0308:Dna2
|
UTSW |
10 |
62,956,974 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0528:Dna2
|
UTSW |
10 |
62,958,131 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0669:Dna2
|
UTSW |
10 |
62,956,989 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0697:Dna2
|
UTSW |
10 |
62,949,341 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0831:Dna2
|
UTSW |
10 |
62,959,329 (GRCm38) |
nonsense |
probably null |
|
|
R0839:Dna2
|
UTSW |
10 |
62,969,782 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0991:Dna2
|
UTSW |
10 |
62,949,187 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0992:Dna2
|
UTSW |
10 |
62,949,187 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1054:Dna2
|
UTSW |
10 |
62,963,823 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R1082:Dna2
|
UTSW |
10 |
62,949,187 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1084:Dna2
|
UTSW |
10 |
62,949,187 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1184:Dna2
|
UTSW |
10 |
62,959,198 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1193:Dna2
|
UTSW |
10 |
62,949,187 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1196:Dna2
|
UTSW |
10 |
62,949,187 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1226:Dna2
|
UTSW |
10 |
62,960,424 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R1561:Dna2
|
UTSW |
10 |
62,949,187 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1562:Dna2
|
UTSW |
10 |
62,949,187 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1566:Dna2
|
UTSW |
10 |
62,949,187 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1568:Dna2
|
UTSW |
10 |
62,949,187 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1598:Dna2
|
UTSW |
10 |
62,961,657 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1768:Dna2
|
UTSW |
10 |
62,957,084 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2075:Dna2
|
UTSW |
10 |
62,969,822 (GRCm38) |
missense |
probably benign |
0.20 |
|
R3125:Dna2
|
UTSW |
10 |
62,949,202 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R3763:Dna2
|
UTSW |
10 |
62,966,797 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4059:Dna2
|
UTSW |
10 |
62,956,989 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5002:Dna2
|
UTSW |
10 |
62,950,842 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5160:Dna2
|
UTSW |
10 |
62,947,154 (GRCm38) |
missense |
probably benign |
|
|
R5567:Dna2
|
UTSW |
10 |
62,966,673 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R5775:Dna2
|
UTSW |
10 |
62,949,242 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5984:Dna2
|
UTSW |
10 |
62,962,506 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6604:Dna2
|
UTSW |
10 |
62,967,743 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6702:Dna2
|
UTSW |
10 |
62,973,294 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6703:Dna2
|
UTSW |
10 |
62,973,294 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6812:Dna2
|
UTSW |
10 |
62,959,341 (GRCm38) |
missense |
probably benign |
0.18 |
|
R6820:Dna2
|
UTSW |
10 |
62,964,904 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6919:Dna2
|
UTSW |
10 |
62,957,003 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7029:Dna2
|
UTSW |
10 |
62,963,994 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7082:Dna2
|
UTSW |
10 |
62,954,317 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R7508:Dna2
|
UTSW |
10 |
62,971,993 (GRCm38) |
splice site |
probably null |
|
|
R7513:Dna2
|
UTSW |
10 |
62,971,968 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7605:Dna2
|
UTSW |
10 |
62,960,275 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7742:Dna2
|
UTSW |
10 |
62,973,294 (GRCm38) |
missense |
probably benign |
0.31 |
|
R7868:Dna2
|
UTSW |
10 |
62,969,864 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7983:Dna2
|
UTSW |
10 |
62,955,394 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8498:Dna2
|
UTSW |
10 |
62,973,315 (GRCm38) |
missense |
probably benign |
0.12 |
|
R8508:Dna2
|
UTSW |
10 |
62,950,894 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9451:Dna2
|
UTSW |
10 |
62,954,293 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9571:Dna2
|
UTSW |
10 |
62,964,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9772:Dna2
|
UTSW |
10 |
62,950,743 (GRCm38) |
missense |
probably benign |
0.13 |
|
RF007:Dna2
|
UTSW |
10 |
62,966,695 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1177:Dna2
|
UTSW |
10 |
62,962,424 (GRCm38) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAGAAATCTGCCTGCCTCTG -3'
(R):5'- ATTCCACCAAGGCTATGGCAC -3'
Sequencing Primer
(F):5'- CCAAGTGCTGGGATCAAAGGC -3'
(R):5'- TATGGCACAGTAGGGGAAACACTG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation