Incidental Mutation 'R2216:Dtna'
| ID |
241188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dtna
|
| Ensembl Gene |
ENSMUSG00000024302 |
| Gene Name |
dystrobrevin alpha |
| Synonyms |
a-DB-1, A0, alpha-dystrobrevin, 2210407P21Rik, 87K protein, Dtn, adbn |
| MMRRC Submission |
040218-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.207)
|
| Stock # |
R2216 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
23548192-23792772 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23702622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 51
(H51R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152288
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047954]
[ENSMUST00000115832]
[ENSMUST00000220904]
[ENSMUST00000221880]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047954
AA Change: H51R
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000037475
Gene: ENSMUSG00000024302
AA Change: H51R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_2
|
14 |
140 |
4.9e-43 |
PFAM |
|
Pfam:EF-hand_3
|
144 |
232 |
7.8e-38 |
PFAM |
|
ZnF_ZZ
|
237 |
282 |
1.29e-17 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115832
AA Change: H51R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111498
Gene: ENSMUSG00000024302
AA Change: H51R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_2
|
16 |
140 |
1.7e-37 |
PFAM |
|
Pfam:EF-hand_3
|
144 |
232 |
1.6e-32 |
PFAM |
|
ZnF_ZZ
|
237 |
282 |
1.29e-17 |
SMART |
|
SCOP:d1eq1a_
|
361 |
494 |
5e-3 |
SMART |
|
low complexity region
|
499 |
514 |
N/A |
INTRINSIC |
|
coiled coil region
|
650 |
677 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220904
AA Change: H51R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221880
AA Change: H51R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted mutants exhibit skeletal and cardiac myopathies. Neuromuscular junctions appear to form normally, but their postnatal maturation is compromised. Dtna mutations do not increase the severity of Dmd or Utrn mutants whose products are also part of the dystrophin-glycoprotein complex. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aipl1 |
G |
T |
11: 71,922,272 (GRCm39) |
P146T |
probably damaging |
Het |
| Arnt2 |
T |
A |
7: 83,924,559 (GRCm39) |
T423S |
probably damaging |
Het |
| Bend5 |
A |
G |
4: 111,305,787 (GRCm39) |
N277S |
probably null |
Het |
| Cd22 |
G |
T |
7: 30,566,471 (GRCm39) |
T816N |
probably damaging |
Het |
| Cep126 |
G |
A |
9: 8,120,679 (GRCm39) |
R115C |
probably damaging |
Het |
| Cep85 |
T |
C |
4: 133,858,741 (GRCm39) |
H710R |
possibly damaging |
Het |
| Cmya5 |
A |
T |
13: 93,230,003 (GRCm39) |
L1695H |
probably damaging |
Het |
| Col24a1 |
T |
C |
3: 145,020,742 (GRCm39) |
V371A |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 17,077,355 (GRCm39) |
|
probably null |
Het |
| Cyp1a1 |
T |
A |
9: 57,609,352 (GRCm39) |
|
probably null |
Het |
| Dennd1c |
C |
T |
17: 57,381,492 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
G |
A |
18: 50,026,990 (GRCm39) |
V2033I |
probably benign |
Het |
| Dysf |
G |
A |
6: 84,184,227 (GRCm39) |
|
probably null |
Het |
| Gcn1 |
T |
A |
5: 115,731,720 (GRCm39) |
V945E |
probably benign |
Het |
| Gpbar1 |
C |
G |
1: 74,318,053 (GRCm39) |
L99V |
probably damaging |
Het |
| Hdac9 |
A |
T |
12: 34,479,516 (GRCm39) |
D212E |
probably damaging |
Het |
| Itga1 |
A |
T |
13: 115,133,565 (GRCm39) |
D448E |
probably benign |
Het |
| Itga2b |
T |
A |
11: 102,358,692 (GRCm39) |
N75I |
probably benign |
Het |
| Klra7 |
T |
C |
6: 130,205,549 (GRCm39) |
E117G |
probably benign |
Het |
| Kmt2b |
G |
A |
7: 30,273,490 (GRCm39) |
R2349C |
probably benign |
Het |
| Masp1 |
T |
C |
16: 23,310,805 (GRCm39) |
N209S |
probably benign |
Het |
| Mybpc2 |
C |
T |
7: 44,161,924 (GRCm39) |
|
probably null |
Het |
| Myh15 |
C |
G |
16: 48,986,201 (GRCm39) |
S1557* |
probably null |
Het |
| Myo3a |
A |
C |
2: 22,467,783 (GRCm39) |
T346P |
probably benign |
Het |
| Nim1k |
A |
G |
13: 120,175,751 (GRCm39) |
Y152H |
probably damaging |
Het |
| Nrp2 |
C |
T |
1: 62,802,077 (GRCm39) |
R507* |
probably null |
Het |
| Or13n4 |
T |
A |
7: 106,423,205 (GRCm39) |
H176L |
probably damaging |
Het |
| Or5e1 |
C |
T |
7: 108,354,819 (GRCm39) |
T252M |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,677,575 (GRCm39) |
I798V |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,614,816 (GRCm39) |
A212T |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,437,291 (GRCm39) |
H3522L |
probably damaging |
Het |
| Pram1 |
C |
T |
17: 33,860,258 (GRCm39) |
A275V |
probably benign |
Het |
| Pramel18 |
T |
A |
4: 101,767,257 (GRCm39) |
W169R |
probably damaging |
Het |
| Prkag1 |
A |
T |
15: 98,713,827 (GRCm39) |
M1K |
probably null |
Het |
| Prss52 |
T |
C |
14: 64,351,042 (GRCm39) |
S276P |
probably damaging |
Het |
| Ranbp17 |
A |
T |
11: 33,431,125 (GRCm39) |
V284D |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,253,003 (GRCm39) |
D648G |
probably benign |
Het |
| Rnf112 |
A |
G |
11: 61,343,105 (GRCm39) |
L190P |
probably damaging |
Het |
| Scn5a |
G |
T |
9: 119,314,678 (GRCm39) |
P2010Q |
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,342,151 (GRCm39) |
Y1138C |
probably benign |
Het |
| Slc4a9 |
A |
G |
18: 36,663,798 (GRCm39) |
H274R |
probably benign |
Het |
| Slc5a6 |
T |
G |
5: 31,196,679 (GRCm39) |
E391D |
possibly damaging |
Het |
| Speer2 |
T |
C |
16: 69,655,730 (GRCm39) |
Q32R |
possibly damaging |
Het |
| Tars1 |
A |
G |
15: 11,389,794 (GRCm39) |
V372A |
probably benign |
Het |
| Thsd7a |
A |
T |
6: 12,337,267 (GRCm39) |
L1250Q |
possibly damaging |
Het |
| Tnnt3 |
A |
G |
7: 142,066,301 (GRCm39) |
Y222C |
probably benign |
Het |
| Trim40 |
T |
C |
17: 37,199,875 (GRCm39) |
I68V |
probably benign |
Het |
| Trp53tg5 |
T |
C |
2: 164,313,226 (GRCm39) |
I150V |
probably benign |
Het |
| Ube2u |
T |
C |
4: 100,389,365 (GRCm39) |
V109A |
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,611,908 (GRCm39) |
D969E |
probably benign |
Het |
| Vil1 |
G |
T |
1: 74,464,838 (GRCm39) |
R495L |
probably benign |
Het |
| Wfs1 |
T |
A |
5: 37,124,564 (GRCm39) |
K700* |
probably null |
Het |
| Zcchc8 |
A |
G |
5: 123,845,466 (GRCm39) |
L298P |
probably damaging |
Het |
| Zfp946 |
A |
T |
17: 22,673,697 (GRCm39) |
Q150H |
possibly damaging |
Het |
|
| Other mutations in Dtna |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00836:Dtna
|
APN |
18 |
23,730,545 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01620:Dtna
|
APN |
18 |
23,758,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01705:Dtna
|
APN |
18 |
23,678,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01914:Dtna
|
APN |
18 |
23,730,516 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL02388:Dtna
|
APN |
18 |
23,730,571 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02427:Dtna
|
APN |
18 |
23,784,595 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03074:Dtna
|
APN |
18 |
23,735,662 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0041:Dtna
|
UTSW |
18 |
23,779,932 (GRCm39) |
unclassified |
probably benign |
|
|
R0041:Dtna
|
UTSW |
18 |
23,779,932 (GRCm39) |
unclassified |
probably benign |
|
|
R0078:Dtna
|
UTSW |
18 |
23,754,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0390:Dtna
|
UTSW |
18 |
23,730,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1808:Dtna
|
UTSW |
18 |
23,702,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1872:Dtna
|
UTSW |
18 |
23,730,617 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2095:Dtna
|
UTSW |
18 |
23,702,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2295:Dtna
|
UTSW |
18 |
23,764,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2402:Dtna
|
UTSW |
18 |
23,728,535 (GRCm39) |
nonsense |
probably null |
|
|
R2846:Dtna
|
UTSW |
18 |
23,784,560 (GRCm39) |
splice site |
probably null |
|
|
R3836:Dtna
|
UTSW |
18 |
23,758,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4764:Dtna
|
UTSW |
18 |
23,668,206 (GRCm39) |
splice site |
probably null |
|
|
R4893:Dtna
|
UTSW |
18 |
23,702,724 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5194:Dtna
|
UTSW |
18 |
23,723,302 (GRCm39) |
nonsense |
probably null |
|
|
R5373:Dtna
|
UTSW |
18 |
23,784,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5374:Dtna
|
UTSW |
18 |
23,784,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5526:Dtna
|
UTSW |
18 |
23,779,287 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5755:Dtna
|
UTSW |
18 |
23,754,520 (GRCm39) |
missense |
probably benign |
|
|
R5769:Dtna
|
UTSW |
18 |
23,784,611 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6062:Dtna
|
UTSW |
18 |
23,755,113 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6413:Dtna
|
UTSW |
18 |
23,755,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6876:Dtna
|
UTSW |
18 |
23,744,167 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7103:Dtna
|
UTSW |
18 |
23,786,436 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7711:Dtna
|
UTSW |
18 |
23,758,253 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7804:Dtna
|
UTSW |
18 |
23,728,666 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8156:Dtna
|
UTSW |
18 |
23,723,388 (GRCm39) |
nonsense |
probably null |
|
|
R8437:Dtna
|
UTSW |
18 |
23,723,398 (GRCm39) |
nonsense |
probably null |
|
|
R8786:Dtna
|
UTSW |
18 |
23,716,190 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9038:Dtna
|
UTSW |
18 |
23,743,553 (GRCm39) |
missense |
probably benign |
|
|
R9268:Dtna
|
UTSW |
18 |
23,702,643 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9416:Dtna
|
UTSW |
18 |
23,780,112 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9578:Dtna
|
UTSW |
18 |
23,728,612 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9605:Dtna
|
UTSW |
18 |
23,764,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9638:Dtna
|
UTSW |
18 |
23,744,122 (GRCm39) |
missense |
probably benign |
|
|
X0063:Dtna
|
UTSW |
18 |
23,776,225 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0066:Dtna
|
UTSW |
18 |
23,726,038 (GRCm39) |
missense |
probably benign |
0.38 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGATGATGGTCTTCAAGCCC -3'
(R):5'- AGTCATTGACAGTCACAGGGG -3'
Sequencing Primer
(F):5'- ATGGTCTTCAAGCCCTGGGG -3'
(R):5'- CTGCGAGCAGGAAGTTCAGC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation