Incidental Mutation 'R2075:Dna2'
| ID |
227543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dna2
|
| Ensembl Gene |
ENSMUSG00000036875 |
| Gene Name |
DNA replication helicase/nuclease 2 |
| Synonyms |
Dna2l, E130315B21Rik |
| MMRRC Submission |
040080-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2075 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
62782805-62809964 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62805601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 946
(Q946R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092462]
[ENSMUST00000131422]
|
| AlphaFold |
Q6ZQJ5 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000092462
AA Change: S945G
|
| SMART Domains |
Protein: ENSMUSP00000090119
Gene: ENSMUSG00000036875
AA Change: S945G
| 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: Q946R
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000115750
Gene: ENSMUSG00000036875
AA Change: Q946R
| 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: ENSMUST00000137378
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139212
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,472,382 (GRCm39) |
F4263L |
probably damaging |
Het |
| Aebp2 |
G |
A |
6: 140,579,420 (GRCm39) |
S219N |
probably benign |
Het |
| Anln |
C |
A |
9: 22,244,464 (GRCm39) |
W1083L |
probably benign |
Het |
| Atic |
T |
A |
1: 71,615,286 (GRCm39) |
D438E |
probably benign |
Het |
| Bahcc1 |
G |
A |
11: 120,162,515 (GRCm39) |
C271Y |
probably damaging |
Het |
| Btbd17 |
A |
T |
11: 114,682,778 (GRCm39) |
|
probably null |
Het |
| Ccdc122 |
T |
C |
14: 77,306,391 (GRCm39) |
|
probably null |
Het |
| Ccdc149 |
A |
G |
5: 52,596,510 (GRCm39) |
L34P |
probably damaging |
Het |
| Cd22 |
C |
G |
7: 30,569,123 (GRCm39) |
C637S |
probably damaging |
Het |
| Ces1a |
T |
A |
8: 93,774,703 (GRCm39) |
N12Y |
probably benign |
Het |
| Chmp1a |
A |
T |
8: 123,934,761 (GRCm39) |
M65K |
probably damaging |
Het |
| Clec16a |
G |
A |
16: 10,559,480 (GRCm39) |
A918T |
probably benign |
Het |
| Clec2m |
C |
T |
6: 129,303,666 (GRCm39) |
E100K |
probably benign |
Het |
| Cnot1 |
G |
T |
8: 96,466,461 (GRCm39) |
T1592K |
possibly damaging |
Het |
| Ddx10 |
A |
T |
9: 53,151,805 (GRCm39) |
D73E |
probably benign |
Het |
| Dhx32 |
T |
C |
7: 133,323,021 (GRCm39) |
N731S |
probably benign |
Het |
| Dmd |
G |
C |
X: 83,356,089 (GRCm39) |
A2257P |
probably benign |
Het |
| Dnai4 |
G |
A |
4: 102,907,390 (GRCm39) |
T632M |
probably damaging |
Het |
| Duox2 |
T |
A |
2: 122,125,639 (GRCm39) |
S323C |
probably damaging |
Het |
| Esr2 |
A |
G |
12: 76,212,221 (GRCm39) |
|
probably null |
Het |
| Fbxo9 |
G |
T |
9: 77,991,798 (GRCm39) |
H397N |
possibly damaging |
Het |
| Fsip2 |
T |
A |
2: 82,818,923 (GRCm39) |
N4885K |
possibly damaging |
Het |
| Gm12695 |
T |
C |
4: 96,612,182 (GRCm39) |
Y527C |
possibly damaging |
Het |
| Hivep1 |
A |
G |
13: 42,309,794 (GRCm39) |
D678G |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,453,074 (GRCm39) |
I5414F |
possibly damaging |
Het |
| Hspb2 |
T |
C |
9: 50,662,646 (GRCm39) |
Y67C |
probably benign |
Het |
| Kbtbd8 |
T |
A |
6: 95,103,664 (GRCm39) |
C438S |
possibly damaging |
Het |
| Kif5a |
T |
C |
10: 127,081,238 (GRCm39) |
D232G |
probably damaging |
Het |
| Ky |
A |
G |
9: 102,419,945 (GRCm39) |
S651G |
probably damaging |
Het |
| Lgals12 |
T |
C |
19: 7,576,210 (GRCm39) |
D238G |
possibly damaging |
Het |
| Lpcat3 |
T |
A |
6: 124,680,066 (GRCm39) |
Y380N |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,716,058 (GRCm39) |
H2080R |
probably benign |
Het |
| Mex3c |
C |
T |
18: 73,722,840 (GRCm39) |
S311L |
probably benign |
Het |
| Mlh3 |
A |
T |
12: 85,315,915 (GRCm39) |
Y90* |
probably null |
Het |
| Mpped2 |
T |
A |
2: 106,575,147 (GRCm39) |
Y77* |
probably null |
Het |
| Myo5a |
A |
T |
9: 75,097,200 (GRCm39) |
T49S |
probably benign |
Het |
| Nsd1 |
T |
C |
13: 55,458,313 (GRCm39) |
V2142A |
possibly damaging |
Het |
| Or4a74 |
A |
G |
2: 89,439,822 (GRCm39) |
V208A |
probably benign |
Het |
| Or51b17 |
T |
A |
7: 103,542,127 (GRCm39) |
I272F |
probably damaging |
Het |
| Or51i2 |
T |
A |
7: 103,689,180 (GRCm39) |
M59K |
probably damaging |
Het |
| Or5ac19 |
T |
C |
16: 59,089,274 (GRCm39) |
Y252C |
possibly damaging |
Het |
| Pdgfra |
T |
C |
5: 75,348,609 (GRCm39) |
I883T |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,385,905 (GRCm39) |
L955P |
probably damaging |
Het |
| Phf24 |
A |
G |
4: 42,939,507 (GRCm39) |
Y333C |
possibly damaging |
Het |
| Phlpp2 |
T |
C |
8: 110,655,124 (GRCm39) |
S605P |
possibly damaging |
Het |
| Piezo2 |
C |
T |
18: 63,214,805 (GRCm39) |
E1263K |
probably damaging |
Het |
| Pitrm1 |
A |
G |
13: 6,605,419 (GRCm39) |
T149A |
probably damaging |
Het |
| Pkhd1l1 |
G |
T |
15: 44,422,035 (GRCm39) |
A3102S |
probably damaging |
Het |
| Plch2 |
A |
T |
4: 155,074,366 (GRCm39) |
L754Q |
probably damaging |
Het |
| Polr2c |
A |
G |
8: 95,590,195 (GRCm39) |
I267V |
probably benign |
Het |
| Potefam1 |
T |
C |
2: 111,030,763 (GRCm39) |
E382G |
probably damaging |
Het |
| Prss8 |
C |
A |
7: 127,526,266 (GRCm39) |
R148L |
possibly damaging |
Het |
| Ptpn2 |
T |
A |
18: 67,814,545 (GRCm39) |
T155S |
probably damaging |
Het |
| Ptprn2 |
G |
A |
12: 117,211,337 (GRCm39) |
V839I |
probably benign |
Het |
| Sbp |
A |
G |
17: 24,164,132 (GRCm39) |
|
probably null |
Het |
| Sec16a |
A |
G |
2: 26,330,251 (GRCm39) |
I588T |
probably damaging |
Het |
| Six2 |
A |
G |
17: 85,994,933 (GRCm39) |
S150P |
probably damaging |
Het |
| Slc5a5 |
C |
T |
8: 71,345,083 (GRCm39) |
G75R |
possibly damaging |
Het |
| Slc6a20b |
T |
A |
9: 123,424,099 (GRCm39) |
T623S |
probably benign |
Het |
| Sqle |
T |
A |
15: 59,195,750 (GRCm39) |
V342E |
probably damaging |
Het |
| Stk3 |
T |
C |
15: 34,959,195 (GRCm39) |
M256V |
possibly damaging |
Het |
| Tek |
A |
G |
4: 94,715,966 (GRCm39) |
I463V |
probably benign |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Tnc |
G |
A |
4: 63,913,903 (GRCm39) |
T1303M |
possibly damaging |
Het |
| Traf6 |
A |
C |
2: 101,527,398 (GRCm39) |
I383L |
probably benign |
Het |
| Tubb3 |
C |
T |
8: 124,148,009 (GRCm39) |
A314V |
probably damaging |
Het |
| Vmn1r199 |
A |
T |
13: 22,567,435 (GRCm39) |
Y243F |
probably damaging |
Het |
| Vmn2r111 |
A |
C |
17: 22,778,043 (GRCm39) |
N545K |
probably damaging |
Het |
| Vmn2r27 |
T |
A |
6: 124,177,510 (GRCm39) |
Q498L |
possibly damaging |
Het |
| Vstm4 |
A |
T |
14: 32,639,811 (GRCm39) |
S229C |
probably damaging |
Het |
| Wdr12 |
C |
T |
1: 60,130,222 (GRCm39) |
R63Q |
possibly damaging |
Het |
| Wrn |
T |
A |
8: 33,812,357 (GRCm39) |
I187L |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,340,545 (GRCm39) |
I929L |
probably benign |
Het |
| Ywhae |
T |
A |
11: 75,655,486 (GRCm39) |
D252E |
probably benign |
Het |
| Zfp944 |
A |
T |
17: 22,558,178 (GRCm39) |
C356* |
probably null |
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 |
|
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'- CAAACACACTTGAACACGGT -3'
(R):5'- GTTGATCACGTGAGGCCGG -3'
Sequencing Primer
(F):5'- ACTTGAACACGGTACCAACC -3'
(R):5'- GGGAAGGAGGGAGGGAGATC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation