Incidental Mutation 'R0992:Dna2'
| ID | 97785 |
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| Institutional Source |
Beutler Lab
|
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| Gene Symbol |
Dna2
|
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| Ensembl Gene |
ENSMUSG00000036875 |
|---|
| Gene Name | DNA replication helicase/nuclease 2 |
|---|
| Synonyms | E130315B21Rik, Dna2l |
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| MMRRC Submission |
039112-MU
|
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| Accession Numbers | |
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| Is this an essential gene? |
Essential (E-score: 1.000)
|
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| Stock # | R0992 (G1)
|
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| Quality Score | 225 |
|---|
| Status |
Not validated
|
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| Chromosome | 10 |
|---|
| Chromosomal Location | 62947026-62974185 bp(+) (GRCm38) |
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| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
C to T
at 62949187 bp
|
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| Zygosity | Heterozygous |
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| Amino Acid Change |
Arginine to Tryptophan
at position 28
(R28W)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000115750
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044977]
[ENSMUST00000092462]
[ENSMUST00000131422]
[ENSMUST00000144459]
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000044977
|
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| 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
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000144459
|
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| 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
|
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| Meta Mutation Damage Score |
0.0898
|
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| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.4%
|
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| Validation Efficiency |
|
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| 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]
|
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,211,684 |
T905A |
probably damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,816,786 |
R100G |
probably damaging |
Het |
| Bsn |
G |
A |
9: 108,114,354 |
R1400* |
probably null |
Het |
| Clstn2 |
A |
G |
9: 97,445,712 |
S948P |
probably benign |
Het |
| Col15a1 |
G |
A |
4: 47,300,491 |
V1029M |
probably damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,111,524 |
T223S |
unknown |
Het |
| Disc1 |
T |
C |
8: 125,088,042 |
I215T |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,199,536 |
N3773S |
probably damaging |
Het |
| Gdap1 |
A |
G |
1: 17,147,105 |
Y96C |
probably damaging |
Het |
| Glipr1l1 |
A |
G |
10: 112,062,325 |
R112G |
probably benign |
Het |
| Gria4 |
A |
G |
9: 4,795,238 |
S13P |
probably benign |
Het |
| Noxred1 |
T |
C |
12: 87,224,226 |
N207S |
probably benign |
Het |
| Pom121l2 |
A |
T |
13: 21,982,759 |
Q400L |
probably benign |
Het |
| Sla2 |
T |
C |
2: 156,874,472 |
E243G |
probably damaging |
Het |
| Srpk2 |
A |
G |
5: 23,545,543 |
I54T |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 36,063,177 |
G1236R |
possibly damaging |
Het |
| Trim15 |
C |
T |
17: 36,865,011 |
V215M |
probably damaging |
Het |
| Uchl3 |
T |
C |
14: 101,668,533 |
I144T |
probably benign |
Het |
|
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| Other mutations in Dna2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00329:Dna2
|
APN |
10 |
62966443 |
missense |
probably damaging |
1.00 |
|
IGL00972:Dna2
|
APN |
10 |
62950823 |
missense |
probably benign |
0.13 |
|
IGL01511:Dna2
|
APN |
10 |
62955314 |
missense |
possibly damaging |
0.69 |
|
IGL01600:Dna2
|
APN |
10 |
62950806 |
missense |
probably damaging |
0.96 |
|
IGL02016:Dna2
|
APN |
10 |
62960412 |
missense |
probably benign |
0.00 |
|
IGL02049:Dna2
|
APN |
10 |
62957036 |
missense |
probably damaging |
0.99 |
|
IGL02069:Dna2
|
APN |
10 |
62958994 |
missense |
probably benign |
0.00 |
|
IGL02438:Dna2
|
APN |
10 |
62957062 |
missense |
possibly damaging |
0.92 |
|
IGL02743:Dna2
|
APN |
10 |
62957042 |
missense |
possibly damaging |
0.90 |
|
IGL02800:Dna2
|
APN |
10 |
62961725 |
critical splice donor site |
probably null |
|
|
IGL02936:Dna2
|
APN |
10 |
62957100 |
missense |
probably damaging |
1.00 |
|
supercoiled
|
UTSW |
10 |
62971993 |
splice site |
probably null |
|
|
R0308:Dna2
|
UTSW |
10 |
62956974 |
missense |
probably damaging |
0.98 |
|
R0528:Dna2
|
UTSW |
10 |
62958131 |
missense |
probably benign |
0.00 |
|
R0669:Dna2
|
UTSW |
10 |
62956989 |
missense |
probably damaging |
1.00 |
|
R0697:Dna2
|
UTSW |
10 |
62949341 |
missense |
probably benign |
0.01 |
|
R0831:Dna2
|
UTSW |
10 |
62959329 |
nonsense |
probably null |
|
|
R0839:Dna2
|
UTSW |
10 |
62969782 |
missense |
probably damaging |
1.00 |
|
R0991:Dna2
|
UTSW |
10 |
62949187 |
missense |
probably benign |
0.08 |
|
R1054:Dna2
|
UTSW |
10 |
62963823 |
missense |
possibly damaging |
0.84 |
|
R1082:Dna2
|
UTSW |
10 |
62949187 |
missense |
probably benign |
0.08 |
|
R1084:Dna2
|
UTSW |
10 |
62949187 |
missense |
probably benign |
0.08 |
|
R1184:Dna2
|
UTSW |
10 |
62959198 |
missense |
probably benign |
0.00 |
|
R1193:Dna2
|
UTSW |
10 |
62949187 |
missense |
probably benign |
0.08 |
|
R1196:Dna2
|
UTSW |
10 |
62949187 |
missense |
probably benign |
0.08 |
|
R1226:Dna2
|
UTSW |
10 |
62960424 |
missense |
possibly damaging |
0.88 |
|
R1561:Dna2
|
UTSW |
10 |
62949187 |
missense |
probably benign |
0.08 |
|
R1562:Dna2
|
UTSW |
10 |
62949187 |
missense |
probably benign |
0.08 |
|
R1566:Dna2
|
UTSW |
10 |
62949187 |
missense |
probably benign |
0.08 |
|
R1568:Dna2
|
UTSW |
10 |
62949187 |
missense |
probably benign |
0.08 |
|
R1598:Dna2
|
UTSW |
10 |
62961657 |
missense |
probably damaging |
0.99 |
|
R1768:Dna2
|
UTSW |
10 |
62957084 |
missense |
probably benign |
0.01 |
|
R2075:Dna2
|
UTSW |
10 |
62969822 |
missense |
probably benign |
0.20 |
|
R3125:Dna2
|
UTSW |
10 |
62949202 |
missense |
possibly damaging |
0.66 |
|
R3763:Dna2
|
UTSW |
10 |
62966797 |
missense |
probably damaging |
1.00 |
|
R4059:Dna2
|
UTSW |
10 |
62956989 |
missense |
probably damaging |
1.00 |
|
R5002:Dna2
|
UTSW |
10 |
62950842 |
missense |
probably damaging |
1.00 |
|
R5160:Dna2
|
UTSW |
10 |
62947154 |
missense |
probably benign |
|
|
R5567:Dna2
|
UTSW |
10 |
62966673 |
missense |
possibly damaging |
0.89 |
|
R5775:Dna2
|
UTSW |
10 |
62949242 |
missense |
possibly damaging |
0.94 |
|
R5984:Dna2
|
UTSW |
10 |
62962506 |
critical splice donor site |
probably null |
|
|
R6604:Dna2
|
UTSW |
10 |
62967743 |
critical splice donor site |
probably null |
|
|
R6702:Dna2
|
UTSW |
10 |
62973294 |
missense |
possibly damaging |
0.89 |
|
R6703:Dna2
|
UTSW |
10 |
62973294 |
missense |
possibly damaging |
0.89 |
|
R6812:Dna2
|
UTSW |
10 |
62959341 |
missense |
probably benign |
0.18 |
|
R6820:Dna2
|
UTSW |
10 |
62964904 |
missense |
possibly damaging |
0.93 |
|
R6919:Dna2
|
UTSW |
10 |
62957003 |
missense |
probably damaging |
1.00 |
|
R7029:Dna2
|
UTSW |
10 |
62963994 |
missense |
probably damaging |
1.00 |
|
R7082:Dna2
|
UTSW |
10 |
62954317 |
missense |
possibly damaging |
0.71 |
|
R7508:Dna2
|
UTSW |
10 |
62971993 |
splice site |
probably null |
|
|
R7513:Dna2
|
UTSW |
10 |
62971968 |
missense |
probably benign |
0.00 |
|
R7605:Dna2
|
UTSW |
10 |
62960275 |
missense |
probably benign |
0.02 |
|
R7742:Dna2
|
UTSW |
10 |
62973294 |
missense |
probably benign |
0.31 |
|
R7868:Dna2
|
UTSW |
10 |
62969864 |
missense |
probably benign |
0.00 |
|
R7983:Dna2
|
UTSW |
10 |
62955394 |
missense |
probably benign |
0.04 |
|
R8508:Dna2
|
UTSW |
10 |
62950894 |
missense |
probably damaging |
1.00 |
|
RF007:Dna2
|
UTSW |
10 |
62966695 |
missense |
probably damaging |
0.99 |
|
Z1177:Dna2
|
UTSW |
10 |
62962424 |
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'
|
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| Posted On | 2014-01-05 |
|---|
