Incidental Mutation 'R7508:Dna2'
| ID |
585923 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dna2
|
| Ensembl Gene |
ENSMUSG00000036875 |
| Gene Name |
DNA replication helicase/nuclease 2 |
| Synonyms |
Dna2l, E130315B21Rik |
| MMRRC Submission |
045581-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7508 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
62782805-62809964 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 62807772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000131422
|
| SMART Domains |
Protein: ENSMUSP00000115750
Gene: ENSMUSG00000036875
| 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 |
0.9351 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (56/56) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
C |
T |
5: 50,174,209 (GRCm39) |
A110T |
probably benign |
Het |
| Adra1a |
A |
C |
14: 66,875,384 (GRCm39) |
I120L |
probably damaging |
Het |
| Ahnak2 |
C |
T |
12: 112,740,839 (GRCm39) |
V1078I |
possibly damaging |
Het |
| Ccser1 |
A |
G |
6: 61,547,707 (GRCm39) |
H590R |
probably benign |
Het |
| Cdh12 |
T |
G |
15: 21,583,851 (GRCm39) |
L564V |
probably benign |
Het |
| Celsr3 |
T |
A |
9: 108,713,821 (GRCm39) |
H1900Q |
probably benign |
Het |
| Clasp1 |
T |
A |
1: 118,473,164 (GRCm39) |
M918K |
probably benign |
Het |
| Cmtm6 |
A |
G |
9: 114,560,308 (GRCm39) |
E2G |
probably damaging |
Het |
| Ctsg |
A |
G |
14: 56,337,998 (GRCm39) |
|
probably null |
Het |
| Cylc2 |
T |
A |
4: 51,229,256 (GRCm39) |
|
probably null |
Het |
| Dnai1 |
G |
A |
4: 41,614,323 (GRCm39) |
R333H |
probably benign |
Het |
| Egln3 |
T |
C |
12: 54,227,414 (GRCm39) |
D239G |
probably benign |
Het |
| Eif1ad12 |
T |
C |
12: 87,541,612 (GRCm39) |
M41T |
possibly damaging |
Het |
| Fam13a |
A |
T |
6: 58,964,269 (GRCm39) |
D54E |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,636,675 (GRCm39) |
V2159A |
probably benign |
Het |
| Gcnt2 |
T |
A |
13: 41,041,157 (GRCm39) |
F105L |
probably benign |
Het |
| Gpd1 |
G |
A |
15: 99,619,967 (GRCm39) |
S255N |
probably damaging |
Het |
| Hacd4 |
A |
G |
4: 88,355,715 (GRCm39) |
F57L |
probably benign |
Het |
| Helb |
T |
C |
10: 119,941,188 (GRCm39) |
D500G |
probably benign |
Het |
| Ighv1-26 |
G |
A |
12: 114,752,062 (GRCm39) |
S94F |
probably damaging |
Het |
| Kirrel1 |
T |
C |
3: 86,990,746 (GRCm39) |
D692G |
possibly damaging |
Het |
| Klra7 |
A |
T |
6: 130,207,054 (GRCm39) |
|
probably null |
Het |
| Lyl1 |
T |
C |
8: 85,430,929 (GRCm39) |
V277A |
probably benign |
Het |
| Mon2 |
A |
C |
10: 122,859,844 (GRCm39) |
W811G |
probably damaging |
Het |
| Myo9b |
T |
C |
8: 71,807,445 (GRCm39) |
L1627P |
probably benign |
Het |
| Neurl1b |
C |
G |
17: 26,657,720 (GRCm39) |
H219Q |
probably benign |
Het |
| Odf4 |
A |
T |
11: 68,813,249 (GRCm39) |
C218S |
possibly damaging |
Het |
| Or2b6 |
T |
A |
13: 21,822,779 (GRCm39) |
I305F |
probably benign |
Het |
| Or8u3-ps |
A |
G |
2: 85,952,282 (GRCm39) |
N5S |
possibly damaging |
Het |
| Pde5a |
A |
G |
3: 122,611,679 (GRCm39) |
D571G |
probably damaging |
Het |
| Pgc |
A |
G |
17: 48,045,111 (GRCm39) |
E343G |
probably benign |
Het |
| Pik3cd |
A |
G |
4: 149,739,040 (GRCm39) |
F667L |
possibly damaging |
Het |
| Prf1 |
G |
A |
10: 61,135,934 (GRCm39) |
R70H |
possibly damaging |
Het |
| Ptprb |
C |
T |
10: 116,189,896 (GRCm39) |
Q1565* |
probably null |
Het |
| Rapgef4 |
T |
A |
2: 72,036,077 (GRCm39) |
N523K |
probably benign |
Het |
| Rbm25 |
T |
C |
12: 83,719,651 (GRCm39) |
L557P |
probably damaging |
Het |
| Rhobtb3 |
C |
T |
13: 76,026,976 (GRCm39) |
V466I |
probably benign |
Het |
| Rnpep |
A |
G |
1: 135,206,596 (GRCm39) |
V166A |
probably benign |
Het |
| Sgo2a |
A |
G |
1: 58,056,954 (GRCm39) |
K1046R |
probably benign |
Het |
| Slc12a2 |
T |
C |
18: 58,037,465 (GRCm39) |
V525A |
probably benign |
Het |
| Slc1a4 |
A |
T |
11: 20,256,487 (GRCm39) |
I448N |
probably damaging |
Het |
| Slc29a4 |
C |
T |
5: 142,704,261 (GRCm39) |
P305L |
probably benign |
Het |
| Slc9a5 |
T |
A |
8: 106,089,885 (GRCm39) |
|
probably null |
Het |
| Spag16 |
A |
T |
1: 69,926,679 (GRCm39) |
N258I |
possibly damaging |
Het |
| Sspo |
T |
A |
6: 48,443,633 (GRCm39) |
L2076Q |
probably damaging |
Het |
| Taok1 |
T |
A |
11: 77,436,152 (GRCm39) |
H704L |
probably damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,035,947 (GRCm39) |
F148L |
probably damaging |
Het |
| Tm4sf1 |
A |
G |
3: 57,202,176 (GRCm39) |
Y12H |
probably benign |
Het |
| Traj6 |
C |
T |
14: 54,450,171 (GRCm39) |
T9M |
|
Het |
| Ttll4 |
A |
G |
1: 74,726,418 (GRCm39) |
N672S |
possibly damaging |
Het |
| Ube3a |
T |
A |
7: 58,953,437 (GRCm39) |
H790Q |
possibly damaging |
Het |
| Usp49 |
G |
A |
17: 47,983,205 (GRCm39) |
R70Q |
probably benign |
Het |
| Vmn2r32 |
C |
T |
7: 7,470,373 (GRCm39) |
V515M |
possibly damaging |
Het |
| Wars1 |
A |
G |
12: 108,848,801 (GRCm39) |
S49P |
probably benign |
Het |
| Zbp1 |
T |
A |
2: 173,049,604 (GRCm39) |
Q386L |
possibly damaging |
Het |
| Zfp369 |
T |
C |
13: 65,427,087 (GRCm39) |
F10S |
unknown |
Het |
| Zfp512 |
C |
G |
5: 31,630,883 (GRCm39) |
I408M |
possibly damaging |
Het |
| Zfp952 |
A |
G |
17: 33,222,756 (GRCm39) |
I412V |
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 |
|
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 |
|
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'- GGAAGTTTCCTTTTGCCCCAG -3'
(R):5'- ATCCCTGCATACGCTAGTCC -3'
Sequencing Primer
(F):5'- CTTTTGCCCCAGCTCGG -3'
(R):5'- TGCATACGCTAGTCCCAGATG -3'
|
| Posted On |
2019-10-18 |
Incidental Mutation