Incidental Mutation 'R9571:Dna2'
| ID |
721995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dna2
|
| Ensembl Gene |
ENSMUSG00000036875 |
| Gene Name |
DNA replication helicase/nuclease 2 |
| Synonyms |
Dna2l, E130315B21Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9571 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
62782805-62809964 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62800740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 758
(D758G)
|
| 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: D758G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090119
Gene: ENSMUSG00000036875
AA Change: D758G
| 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 damaging
Transcript: ENSMUST00000131422
AA Change: D758G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115750
Gene: ENSMUSG00000036875
AA Change: D758G
| 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: 99.0%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020A23Rik |
A |
G |
2: 130,247,482 (GRCm39) |
D6G |
probably benign |
Het |
| Abl2 |
T |
G |
1: 156,469,084 (GRCm39) |
S783A |
probably damaging |
Het |
| Adamtsl1 |
A |
T |
4: 86,117,543 (GRCm39) |
T169S |
probably benign |
Het |
| Adcy9 |
A |
G |
16: 4,141,653 (GRCm39) |
V621A |
probably benign |
Het |
| Ahnak2 |
T |
C |
12: 112,742,510 (GRCm39) |
S521G |
possibly damaging |
Het |
| Ap2m1 |
G |
A |
16: 20,360,037 (GRCm39) |
G213R |
probably damaging |
Het |
| Apol11b |
C |
T |
15: 77,524,771 (GRCm39) |
E5K |
possibly damaging |
Het |
| Arl4d |
T |
C |
11: 101,558,032 (GRCm39) |
M186T |
possibly damaging |
Het |
| Cep192 |
A |
G |
18: 67,952,109 (GRCm39) |
D428G |
probably damaging |
Het |
| Ckap5 |
A |
C |
2: 91,387,953 (GRCm39) |
D266A |
probably damaging |
Het |
| Crls1 |
A |
T |
2: 132,691,793 (GRCm39) |
N106I |
probably damaging |
Het |
| Csmd3 |
T |
A |
15: 48,655,398 (GRCm39) |
|
probably benign |
Het |
| Csnk1a1 |
A |
G |
18: 61,704,969 (GRCm39) |
R161G |
possibly damaging |
Het |
| Cyp4f39 |
T |
A |
17: 32,702,196 (GRCm39) |
I231N |
probably damaging |
Het |
| Ddx31 |
T |
A |
2: 28,750,034 (GRCm39) |
V352D |
probably damaging |
Het |
| Duxf4 |
G |
A |
10: 58,071,378 (GRCm39) |
L279F |
possibly damaging |
Het |
| Gatad2a |
C |
A |
8: 70,370,381 (GRCm39) |
A172S |
probably benign |
Het |
| Ghsr |
G |
T |
3: 27,426,664 (GRCm39) |
R240L |
probably benign |
Het |
| Gli3 |
T |
A |
13: 15,900,858 (GRCm39) |
M1415K |
probably benign |
Het |
| Glo1 |
G |
A |
17: 30,816,835 (GRCm39) |
T107I |
possibly damaging |
Het |
| Gm10800 |
AAAGAAAACTGAA |
ACAAGAAAACTGAA |
2: 98,497,378 (GRCm39) |
|
probably null |
Het |
| Gm17334 |
C |
T |
11: 53,663,760 (GRCm39) |
V34M |
unknown |
Het |
| Habp4 |
T |
A |
13: 64,322,615 (GRCm39) |
M228K |
probably benign |
Het |
| Hacl1 |
A |
G |
14: 31,344,838 (GRCm39) |
V257A |
possibly damaging |
Het |
| Ift122 |
T |
G |
6: 115,857,628 (GRCm39) |
S125A |
possibly damaging |
Het |
| Iqce |
C |
T |
5: 140,651,862 (GRCm39) |
D704N |
possibly damaging |
Het |
| Jcad |
T |
A |
18: 4,673,252 (GRCm39) |
L338* |
probably null |
Het |
| Kcnj13 |
T |
C |
1: 87,316,849 (GRCm39) |
D88G |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,305,098 (GRCm39) |
D942G |
probably damaging |
Het |
| Marchf8 |
T |
A |
6: 116,383,237 (GRCm39) |
S271T |
probably benign |
Het |
| Meis1 |
A |
G |
11: 18,961,378 (GRCm39) |
L165S |
probably damaging |
Het |
| Morc2b |
T |
A |
17: 33,355,178 (GRCm39) |
T865S |
probably benign |
Het |
| Morc3 |
T |
A |
16: 93,641,107 (GRCm39) |
N46K |
possibly damaging |
Het |
| Mpzl1 |
C |
T |
1: 165,429,374 (GRCm39) |
C219Y |
probably benign |
Het |
| Mup5 |
A |
G |
4: 61,750,787 (GRCm39) |
|
probably null |
Het |
| Ninl |
A |
T |
2: 150,791,803 (GRCm39) |
W907R |
probably benign |
Het |
| Nol6 |
A |
T |
4: 41,120,156 (GRCm39) |
S491T |
probably benign |
Het |
| Or4f53 |
A |
T |
2: 111,088,083 (GRCm39) |
I208F |
probably benign |
Het |
| Or51g1 |
A |
G |
7: 102,634,221 (GRCm39) |
V50A |
probably benign |
Het |
| Or5b121 |
T |
A |
19: 13,507,697 (GRCm39) |
I264N |
probably damaging |
Het |
| Or6c205 |
C |
A |
10: 129,087,182 (GRCm39) |
P260T |
possibly damaging |
Het |
| Osbpl6 |
T |
A |
2: 76,425,191 (GRCm39) |
M919K |
probably benign |
Het |
| Otogl |
A |
T |
10: 107,598,364 (GRCm39) |
V2262E |
possibly damaging |
Het |
| Pcbp2 |
A |
G |
15: 102,383,113 (GRCm39) |
D77G |
possibly damaging |
Het |
| Pcsk7 |
G |
A |
9: 45,820,907 (GRCm39) |
R113Q |
possibly damaging |
Het |
| Pds5b |
T |
C |
5: 150,645,971 (GRCm39) |
I143T |
probably damaging |
Het |
| Polr2m |
T |
C |
9: 71,386,710 (GRCm39) |
E357G |
possibly damaging |
Het |
| Prox2 |
G |
A |
12: 85,141,766 (GRCm39) |
Q146* |
probably null |
Het |
| Ptprt |
A |
G |
2: 161,395,732 (GRCm39) |
V1167A |
probably benign |
Het |
| Rbm11 |
G |
A |
16: 75,397,543 (GRCm39) |
E158K |
possibly damaging |
Het |
| Sall2 |
A |
T |
14: 52,551,830 (GRCm39) |
V455E |
probably damaging |
Het |
| Sar1b |
T |
A |
11: 51,680,064 (GRCm39) |
L130Q |
probably damaging |
Het |
| Slc35f6 |
A |
G |
5: 30,815,180 (GRCm39) |
N369S |
possibly damaging |
Het |
| Slc39a12 |
A |
T |
2: 14,412,380 (GRCm39) |
M351L |
probably benign |
Het |
| Taf15 |
T |
A |
11: 83,395,487 (GRCm39) |
Y397* |
probably null |
Het |
| Tmprss11e |
A |
T |
5: 86,875,149 (GRCm39) |
V39D |
probably damaging |
Het |
| Trim71 |
T |
C |
9: 114,342,359 (GRCm39) |
D641G |
probably damaging |
Het |
| Trpc3 |
T |
A |
3: 36,694,909 (GRCm39) |
T682S |
probably damaging |
Het |
| Tsen54 |
T |
C |
11: 115,707,933 (GRCm39) |
|
probably null |
Het |
| Usp6nl |
A |
G |
2: 6,445,960 (GRCm39) |
N646D |
possibly damaging |
Het |
| Vip |
T |
C |
10: 5,590,661 (GRCm39) |
F12L |
probably benign |
Het |
| Vmn1r39 |
A |
T |
6: 66,781,572 (GRCm39) |
F249I |
probably benign |
Het |
| Vmn2r106 |
A |
T |
17: 20,505,641 (GRCm39) |
S18T |
probably benign |
Het |
| Vmn2r97 |
G |
T |
17: 19,149,919 (GRCm39) |
V436L |
probably benign |
Het |
| Washc2 |
T |
C |
6: 116,237,631 (GRCm39) |
|
probably null |
Het |
| Ykt6 |
T |
C |
11: 5,914,613 (GRCm39) |
V171A |
possibly damaging |
Het |
| Zfp658 |
A |
G |
7: 43,222,139 (GRCm39) |
D138G |
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 |
|
|
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 |
|
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 |
|
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'- ATTGAGAGGTTCTTGCTATTGGA -3'
(R):5'- GCCCACTGTTATCAACTGAACATAG -3'
Sequencing Primer
(F):5'- AGGTTCTTGCTATTGGAGGGGG -3'
(R):5'- ACTGTCCCAATGCTGGACAGAG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation