Incidental Mutation 'R1562:Dna2'
| ID |
170688 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dna2
|
| Ensembl Gene |
ENSMUSG00000036875 |
| Gene Name |
DNA replication helicase/nuclease 2 |
| Synonyms |
Dna2l, E130315B21Rik |
| MMRRC Submission |
039601-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1562 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
62782805-62809964 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 62784966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 28
(R28W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044977]
[ENSMUST00000092462]
[ENSMUST00000131422]
[ENSMUST00000144459]
|
| 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: R28W
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000090119
Gene: ENSMUSG00000036875
AA Change: R28W
| 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: R28W
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000115750
Gene: ENSMUSG00000036875
AA Change: R28W
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144459
|
| SMART Domains |
Protein: ENSMUSP00000114510
Gene: ENSMUSG00000071253
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
23 |
N/A |
INTRINSIC |
|
Pfam:Mito_carr
|
32 |
125 |
9.4e-28 |
PFAM |
|
Pfam:Mito_carr
|
126 |
223 |
4.6e-25 |
PFAM |
|
Pfam:Mito_carr
|
240 |
322 |
2.3e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152350
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.0%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
G |
2: 25,336,331 (GRCm39) |
I2201V |
probably benign |
Het |
| Adam22 |
T |
C |
5: 8,145,007 (GRCm39) |
N817S |
probably damaging |
Het |
| Alox12 |
C |
A |
11: 70,140,991 (GRCm39) |
R348L |
probably damaging |
Het |
| Asb17 |
A |
T |
3: 153,559,143 (GRCm39) |
T285S |
probably benign |
Het |
| Casp4 |
T |
C |
9: 5,324,733 (GRCm39) |
S182P |
possibly damaging |
Het |
| Cenpe |
T |
C |
3: 134,944,155 (GRCm39) |
M985T |
possibly damaging |
Het |
| Clcn1 |
C |
T |
6: 42,277,169 (GRCm39) |
P420L |
probably benign |
Het |
| Coro2a |
T |
C |
4: 46,548,917 (GRCm39) |
I126V |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,432,778 (GRCm39) |
Y1181C |
probably damaging |
Het |
| Cyp2d22 |
A |
T |
15: 82,258,179 (GRCm39) |
L147Q |
probably damaging |
Het |
| Ecm1 |
G |
A |
3: 95,643,275 (GRCm39) |
R342C |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,200,800 (GRCm39) |
N758S |
probably damaging |
Het |
| Fbxo43 |
T |
C |
15: 36,163,162 (GRCm39) |
D15G |
probably damaging |
Het |
| Flt3 |
T |
C |
5: 147,281,323 (GRCm39) |
E803G |
probably damaging |
Het |
| Folr1 |
T |
G |
7: 101,507,801 (GRCm39) |
D213A |
probably damaging |
Het |
| Fus |
T |
C |
7: 127,579,094 (GRCm39) |
V359A |
probably damaging |
Het |
| Gabrb3 |
C |
T |
7: 57,415,262 (GRCm39) |
R111* |
probably null |
Het |
| Gm17324 |
T |
C |
9: 78,355,964 (GRCm39) |
|
probably benign |
Het |
| Hormad2 |
A |
T |
11: 4,358,848 (GRCm39) |
|
probably null |
Het |
| Ifi27l2b |
T |
A |
12: 103,422,780 (GRCm39) |
|
probably null |
Het |
| Isg20 |
G |
T |
7: 78,569,891 (GRCm39) |
C176F |
probably benign |
Het |
| Katnip |
C |
A |
7: 125,442,020 (GRCm39) |
S643Y |
probably damaging |
Het |
| Krt15 |
C |
A |
11: 100,024,007 (GRCm39) |
V346L |
probably benign |
Het |
| Liat1 |
A |
T |
11: 75,894,024 (GRCm39) |
I134F |
probably damaging |
Het |
| Med13l |
A |
G |
5: 118,876,584 (GRCm39) |
K920R |
probably damaging |
Het |
| Mlh3 |
A |
T |
12: 85,313,694 (GRCm39) |
F831I |
probably benign |
Het |
| Mtmr9 |
A |
G |
14: 63,771,786 (GRCm39) |
S267P |
probably benign |
Het |
| Mybpc1 |
C |
T |
10: 88,389,193 (GRCm39) |
A406T |
probably damaging |
Het |
| Myh1 |
T |
C |
11: 67,102,196 (GRCm39) |
M829T |
probably benign |
Het |
| Myo10 |
A |
G |
15: 25,780,497 (GRCm39) |
Q209R |
possibly damaging |
Het |
| Nceh1 |
T |
A |
3: 27,293,701 (GRCm39) |
V153D |
probably damaging |
Het |
| Oog3 |
A |
T |
4: 143,889,169 (GRCm39) |
I3N |
probably damaging |
Het |
| Or1j19 |
A |
G |
2: 36,676,696 (GRCm39) |
D53G |
probably damaging |
Het |
| Or2ag1b |
C |
T |
7: 106,288,187 (GRCm39) |
M250I |
probably benign |
Het |
| Or4c103 |
T |
A |
2: 88,513,423 (GRCm39) |
I218F |
probably benign |
Het |
| Or8c20 |
C |
A |
9: 38,260,658 (GRCm39) |
S87* |
probably null |
Het |
| Pcnt |
G |
A |
10: 76,203,164 (GRCm39) |
T2646M |
probably benign |
Het |
| Phf10 |
A |
T |
17: 15,166,512 (GRCm39) |
C453S |
probably damaging |
Het |
| Plcb4 |
T |
A |
2: 135,812,367 (GRCm39) |
|
probably null |
Het |
| Plekhh1 |
A |
G |
12: 79,123,482 (GRCm39) |
H1185R |
probably benign |
Het |
| Prmt3 |
G |
T |
7: 49,476,602 (GRCm39) |
V404L |
probably benign |
Het |
| Ptprb |
T |
A |
10: 116,175,372 (GRCm39) |
D1122E |
probably benign |
Het |
| Rars1 |
A |
G |
11: 35,711,921 (GRCm39) |
|
probably null |
Het |
| Rasa2 |
G |
T |
9: 96,427,803 (GRCm39) |
N687K |
possibly damaging |
Het |
| Rbm11 |
A |
G |
16: 75,393,423 (GRCm39) |
T40A |
probably damaging |
Het |
| Rem2 |
T |
C |
14: 54,713,775 (GRCm39) |
V16A |
probably benign |
Het |
| Rlf |
A |
T |
4: 121,007,588 (GRCm39) |
M574K |
possibly damaging |
Het |
| Rpap3 |
A |
T |
15: 97,592,098 (GRCm39) |
V186D |
possibly damaging |
Het |
| Sertad3 |
G |
A |
7: 27,176,048 (GRCm39) |
E161K |
probably damaging |
Het |
| Sh3gl2 |
T |
C |
4: 85,304,130 (GRCm39) |
S278P |
probably benign |
Het |
| Strn3 |
T |
C |
12: 51,680,401 (GRCm39) |
T400A |
probably benign |
Het |
| Sycp2 |
A |
T |
2: 178,024,178 (GRCm39) |
I402N |
probably damaging |
Het |
| Synj1 |
C |
T |
16: 90,784,290 (GRCm39) |
V283I |
probably benign |
Het |
| Tas2r108 |
A |
G |
6: 40,471,000 (GRCm39) |
|
probably null |
Het |
| Ttpal |
A |
G |
2: 163,457,323 (GRCm39) |
N265S |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,677,116 (GRCm39) |
G2015D |
probably damaging |
Het |
| Upf1 |
C |
T |
8: 70,796,017 (GRCm39) |
W138* |
probably null |
Het |
| Vmn1r25 |
T |
G |
6: 57,955,786 (GRCm39) |
M168L |
probably benign |
Het |
| Vmn2r18 |
A |
T |
5: 151,510,301 (GRCm39) |
F24Y |
probably benign |
Het |
| Vmn2r4 |
G |
T |
3: 64,296,865 (GRCm39) |
T640N |
probably damaging |
Het |
| Wdr75 |
T |
A |
1: 45,843,030 (GRCm39) |
|
probably null |
Het |
| Zdbf2 |
T |
G |
1: 63,342,747 (GRCm39) |
S375R |
possibly damaging |
Het |
| Zfp648 |
A |
G |
1: 154,080,138 (GRCm39) |
Q99R |
probably benign |
Het |
| Zfp964 |
C |
T |
8: 70,115,654 (GRCm39) |
P85S |
probably benign |
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 |
|
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'- AGTGGTTCATCGTGTCCAGCTTC -3'
(R):5'- TGCACAGAACTTCGTGCTCTCG -3'
Sequencing Primer
(F):5'- ccaccacactcagacacc -3'
(R):5'- TCGTGCTCTCGGTCCTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation