Incidental Mutation 'R1054:Dna2'
| ID |
94204 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dna2
|
| Ensembl Gene |
ENSMUSG00000036875 |
| Gene Name |
DNA replication helicase/nuclease 2 |
| Synonyms |
Dna2l, E130315B21Rik |
| MMRRC Submission |
039144-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1054 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
62782805-62809964 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 62799602 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 669
(C669S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092462]
[ENSMUST00000131422]
|
| AlphaFold |
Q6ZQJ5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092462
AA Change: C669S
PolyPhen 2
Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000090119
Gene: ENSMUSG00000036875
AA Change: C669S
| 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 |
possibly damaging
Transcript: ENSMUST00000131422
AA Change: C669S
PolyPhen 2
Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000115750
Gene: ENSMUSG00000036875
AA Change: C669S
| 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: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap39 |
T |
C |
15: 76,635,759 (GRCm39) |
T159A |
probably benign |
Het |
| Arhgef38 |
T |
C |
3: 132,822,226 (GRCm39) |
Y763C |
probably damaging |
Het |
| Arv1 |
T |
A |
8: 125,458,611 (GRCm39) |
F245Y |
probably benign |
Het |
| Ccdc175 |
A |
G |
12: 72,225,318 (GRCm39) |
I113T |
possibly damaging |
Het |
| Cdc42bpb |
A |
T |
12: 111,279,787 (GRCm39) |
M932K |
probably benign |
Het |
| Cdh15 |
T |
C |
8: 123,591,076 (GRCm39) |
F442L |
possibly damaging |
Het |
| Col28a1 |
C |
T |
6: 8,175,534 (GRCm39) |
D105N |
probably damaging |
Het |
| Cpne4 |
A |
G |
9: 104,899,600 (GRCm39) |
T428A |
probably benign |
Het |
| Cramp1 |
T |
A |
17: 25,202,151 (GRCm39) |
I444F |
probably damaging |
Het |
| Dhx32 |
T |
A |
7: 133,327,001 (GRCm39) |
K360M |
probably damaging |
Het |
| Dusp8 |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC |
7: 141,635,804 (GRCm39) |
|
probably benign |
Het |
| Eif3f |
G |
A |
7: 108,537,024 (GRCm39) |
|
probably null |
Het |
| Elmod1 |
T |
C |
9: 53,820,058 (GRCm39) |
D310G |
probably benign |
Het |
| Fn1 |
A |
G |
1: 71,625,373 (GRCm39) |
*2272Q |
probably null |
Het |
| Gnat1 |
A |
G |
9: 107,554,638 (GRCm39) |
S76P |
probably damaging |
Het |
| Gtf2f2 |
T |
C |
14: 76,232,885 (GRCm39) |
T94A |
probably benign |
Het |
| Hacd4 |
A |
T |
4: 88,341,264 (GRCm39) |
W152R |
probably damaging |
Het |
| Kcnh8 |
A |
G |
17: 53,110,512 (GRCm39) |
Y241C |
probably damaging |
Het |
| Lepr |
T |
C |
4: 101,639,793 (GRCm39) |
I753T |
probably damaging |
Het |
| Med12l |
C |
T |
3: 59,156,072 (GRCm39) |
H1162Y |
probably damaging |
Het |
| Med25 |
C |
T |
7: 44,529,804 (GRCm39) |
A485T |
probably benign |
Het |
| Mup5 |
A |
T |
4: 61,750,871 (GRCm39) |
S145R |
probably benign |
Het |
| Myo1g |
A |
G |
11: 6,468,987 (GRCm39) |
V105A |
probably damaging |
Het |
| Npc2 |
A |
G |
12: 84,807,492 (GRCm39) |
|
probably null |
Het |
| Or52h1 |
A |
G |
7: 103,829,498 (GRCm39) |
I39T |
probably benign |
Het |
| Or6p1 |
A |
G |
1: 174,258,419 (GRCm39) |
T142A |
probably benign |
Het |
| Otulinl |
T |
C |
15: 27,664,635 (GRCm39) |
R79G |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,371,725 (GRCm39) |
S2557P |
probably damaging |
Het |
| Pop1 |
T |
C |
15: 34,509,955 (GRCm39) |
V353A |
probably benign |
Het |
| Pou3f2 |
A |
G |
4: 22,487,536 (GRCm39) |
V199A |
possibly damaging |
Het |
| Pramel18 |
A |
G |
4: 101,766,361 (GRCm39) |
E15G |
probably benign |
Het |
| Ptprm |
A |
T |
17: 67,349,313 (GRCm39) |
N43K |
probably damaging |
Het |
| Qrsl1 |
C |
T |
10: 43,758,077 (GRCm39) |
D339N |
probably damaging |
Het |
| Rpl13-ps3 |
C |
A |
14: 59,131,394 (GRCm39) |
|
noncoding transcript |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Sdr16c6 |
A |
G |
4: 4,069,908 (GRCm39) |
V144A |
probably damaging |
Het |
| Spata31d1b |
C |
A |
13: 59,865,332 (GRCm39) |
H827N |
probably damaging |
Het |
| Spata31e4 |
T |
C |
13: 50,856,432 (GRCm39) |
V690A |
probably benign |
Het |
| Taf4b |
T |
A |
18: 14,954,530 (GRCm39) |
H535Q |
probably benign |
Het |
| Timmdc1 |
A |
G |
16: 38,342,790 (GRCm39) |
V36A |
probably benign |
Het |
| Tmem74b |
C |
T |
2: 151,548,339 (GRCm39) |
A22V |
probably benign |
Het |
| Txnrd3 |
T |
A |
6: 89,627,543 (GRCm39) |
Y65* |
probably null |
Het |
| Vmn1r200 |
T |
A |
13: 22,579,624 (GRCm39) |
S133R |
probably damaging |
Het |
| Vwf |
G |
A |
6: 125,567,190 (GRCm39) |
C311Y |
probably damaging |
Het |
| Wipf2 |
G |
A |
11: 98,787,141 (GRCm39) |
R390H |
possibly damaging |
Het |
| Zfp282 |
T |
A |
6: 47,881,533 (GRCm39) |
S407T |
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 |
|
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 |
|
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'- TCTGGGGTCGATATGATTAATAGCAGCA -3'
(R):5'- CGATCTGCAAATCTCCTCCTCTGTAAAC -3'
Sequencing Primer
(F):5'- ttatcccccccccaacc -3'
(R):5'- CCTCCTCTGTAAACTTCTGGATG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation