Incidental Mutation 'R6724:Dtnb'
| ID |
529775 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dtnb
|
| Ensembl Gene |
ENSMUSG00000071454 |
| Gene Name |
dystrobrevin, beta |
| Synonyms |
|
| MMRRC Submission |
044842-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6724 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
3622381-3831796 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3736817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 319
(V319D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134519
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077930]
[ENSMUST00000101637]
[ENSMUST00000164578]
[ENSMUST00000164607]
[ENSMUST00000173199]
[ENSMUST00000173240]
[ENSMUST00000173736]
[ENSMUST00000174547]
[ENSMUST00000174663]
[ENSMUST00000173483]
[ENSMUST00000174109]
[ENSMUST00000174290]
[ENSMUST00000174639]
|
| AlphaFold |
O70585 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077930
AA Change: V319D
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000077085
Gene: ENSMUSG00000071454
AA Change: V319D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_2
|
14 |
140 |
1.7e-40 |
PFAM |
|
Pfam:EF-hand_3
|
144 |
232 |
1.1e-38 |
PFAM |
|
ZnF_ZZ
|
237 |
282 |
3.29e-15 |
SMART |
|
low complexity region
|
403 |
416 |
N/A |
INTRINSIC |
|
coiled coil region
|
429 |
519 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101637
AA Change: V319D
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000099161
Gene: ENSMUSG00000071454
AA Change: V319D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_2
|
14 |
140 |
1.8e-40 |
PFAM |
|
Pfam:EF-hand_3
|
144 |
232 |
1.1e-38 |
PFAM |
|
ZnF_ZZ
|
237 |
282 |
3.29e-15 |
SMART |
|
SCOP:d1eq1a_
|
364 |
524 |
8e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164578
AA Change: V319D
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000126194
Gene: ENSMUSG00000071454
AA Change: V319D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_2
|
16 |
140 |
7.9e-38 |
PFAM |
|
Pfam:EF-hand_3
|
144 |
232 |
2.1e-33 |
PFAM |
|
ZnF_ZZ
|
237 |
282 |
3.29e-15 |
SMART |
|
low complexity region
|
403 |
416 |
N/A |
INTRINSIC |
|
coiled coil region
|
429 |
519 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164607
AA Change: V319D
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000128230
Gene: ENSMUSG00000071454
AA Change: V319D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_2
|
14 |
140 |
2.1e-40 |
PFAM |
|
Pfam:EF-hand_3
|
144 |
232 |
1.5e-38 |
PFAM |
|
ZnF_ZZ
|
237 |
282 |
3.29e-15 |
SMART |
|
low complexity region
|
403 |
416 |
N/A |
INTRINSIC |
|
coiled coil region
|
429 |
519 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168806
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000172598
AA Change: V132D
|
| SMART Domains |
Protein: ENSMUSP00000134124
Gene: ENSMUSG00000071454
AA Change: V132D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_3
|
1 |
46 |
7.7e-15 |
PFAM |
|
ZnF_ZZ
|
51 |
96 |
3.29e-15 |
SMART |
|
low complexity region
|
217 |
230 |
N/A |
INTRINSIC |
|
coiled coil region
|
242 |
332 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173074
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173199
AA Change: V319D
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134392
Gene: ENSMUSG00000071454
AA Change: V319D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_2
|
14 |
140 |
2e-40 |
PFAM |
|
Pfam:EF-hand_3
|
144 |
232 |
1.6e-38 |
PFAM |
|
ZnF_ZZ
|
237 |
282 |
3.29e-15 |
SMART |
|
SCOP:d1eq1a_
|
364 |
524 |
9e-5 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173240
AA Change: V319D
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000133722
Gene: ENSMUSG00000071454
AA Change: V319D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_2
|
14 |
140 |
1.8e-40 |
PFAM |
|
Pfam:EF-hand_3
|
144 |
232 |
1.3e-38 |
PFAM |
|
ZnF_ZZ
|
237 |
282 |
3.29e-15 |
SMART |
|
low complexity region
|
373 |
386 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
404 |
494 |
8e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173736
AA Change: V319D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000134519
Gene: ENSMUSG00000071454
AA Change: V319D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_2
|
14 |
140 |
1.8e-40 |
PFAM |
|
Pfam:EF-hand_3
|
144 |
232 |
1.3e-38 |
PFAM |
|
ZnF_ZZ
|
237 |
282 |
3.29e-15 |
SMART |
|
low complexity region
|
373 |
386 |
N/A |
INTRINSIC |
|
coiled coil region
|
399 |
489 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174547
AA Change: V319D
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000133927
Gene: ENSMUSG00000071454
AA Change: V319D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_2
|
14 |
140 |
2e-40 |
PFAM |
|
Pfam:EF-hand_3
|
144 |
232 |
1.4e-38 |
PFAM |
|
ZnF_ZZ
|
237 |
282 |
3.29e-15 |
SMART |
|
SCOP:d1eq1a_
|
364 |
524 |
5e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174663
AA Change: V319D
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000134146
Gene: ENSMUSG00000071454
AA Change: V319D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_2
|
14 |
140 |
2.2e-40 |
PFAM |
|
Pfam:EF-hand_3
|
144 |
232 |
1.5e-38 |
PFAM |
|
ZnF_ZZ
|
237 |
282 |
3.29e-15 |
SMART |
|
SCOP:d1eq1a_
|
364 |
524 |
4e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173483
|
| SMART Domains |
Protein: ENSMUSP00000134390
Gene: ENSMUSG00000071454
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_2
|
14 |
61 |
7.9e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174109
|
| SMART Domains |
Protein: ENSMUSP00000134151
Gene: ENSMUSG00000071454
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_2
|
14 |
132 |
1.1e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174290
|
| SMART Domains |
Protein: ENSMUSP00000133697
Gene: ENSMUSG00000071454
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_2
|
14 |
140 |
6e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174639
|
| SMART Domains |
Protein: ENSMUSP00000133601
Gene: ENSMUSG00000071454
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_2
|
14 |
123 |
6.9e-35 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
98% (63/64) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes dystrobrevin beta, a component of the dystrophin-associated protein complex (DPC). The DPC consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and dystrobrevin alpha and beta. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Dystrobrevin beta is thought to interact with syntrophin and the DP71 short form of dystrophin. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and show no obvious histological or functional abnormalities in liver and kidney. Mice homozygous for a gene trapped allele are viable, fertile and overtly normal with no significant synaptic or behavioral defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts5 |
T |
A |
16: 85,665,445 (GRCm39) |
T619S |
probably benign |
Het |
| Adgra2 |
G |
A |
8: 27,604,210 (GRCm39) |
A467T |
possibly damaging |
Het |
| Alox5 |
A |
T |
6: 116,391,509 (GRCm39) |
I416N |
probably damaging |
Het |
| Blmh |
A |
G |
11: 76,862,733 (GRCm39) |
|
probably null |
Het |
| Cftr |
T |
A |
6: 18,255,973 (GRCm39) |
Y567* |
probably null |
Het |
| Cnr1 |
T |
A |
4: 33,944,728 (GRCm39) |
M372K |
possibly damaging |
Het |
| Col6a3 |
T |
C |
1: 90,706,874 (GRCm39) |
T2080A |
unknown |
Het |
| Crybg3 |
A |
T |
16: 59,364,501 (GRCm39) |
C2374S |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,457,164 (GRCm39) |
I3544V |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,518,180 (GRCm39) |
D1809V |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dnajb12 |
A |
G |
10: 59,728,602 (GRCm39) |
D190G |
possibly damaging |
Het |
| Eif1ad6 |
A |
T |
12: 87,668,754 (GRCm39) |
I129F |
unknown |
Het |
| Ercc6 |
A |
T |
14: 32,288,288 (GRCm39) |
E820V |
probably benign |
Het |
| Fip1l1 |
T |
G |
5: 74,752,435 (GRCm39) |
V378G |
probably damaging |
Het |
| Gabrg1 |
T |
A |
5: 70,911,552 (GRCm39) |
Y358F |
possibly damaging |
Het |
| Gcn1 |
T |
G |
5: 115,747,217 (GRCm39) |
|
probably null |
Het |
| Gm11011 |
T |
A |
2: 169,429,402 (GRCm39) |
T28S |
unknown |
Het |
| Guf1 |
C |
A |
5: 69,723,736 (GRCm39) |
N438K |
probably damaging |
Het |
| Hoxa7 |
T |
C |
6: 52,192,719 (GRCm39) |
E223G |
probably benign |
Het |
| Hspg2 |
G |
A |
4: 137,242,618 (GRCm39) |
G611E |
probably damaging |
Het |
| Ipo8 |
A |
T |
6: 148,711,473 (GRCm39) |
|
probably null |
Het |
| Isl2 |
A |
G |
9: 55,448,572 (GRCm39) |
D3G |
possibly damaging |
Het |
| Kcnb2 |
A |
G |
1: 15,780,664 (GRCm39) |
Y512C |
probably damaging |
Het |
| Kifc1 |
T |
A |
17: 34,105,707 (GRCm39) |
|
probably null |
Het |
| Klhdc10 |
A |
G |
6: 30,446,640 (GRCm39) |
D183G |
probably damaging |
Het |
| Klra5 |
T |
A |
6: 129,883,643 (GRCm39) |
K71N |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,463,504 (GRCm39) |
H559R |
possibly damaging |
Het |
| Maml3 |
T |
C |
3: 51,763,296 (GRCm39) |
N556S |
probably damaging |
Het |
| Man2a1 |
A |
G |
17: 65,038,264 (GRCm39) |
I83V |
possibly damaging |
Het |
| Mrgpra9 |
A |
G |
7: 46,884,786 (GRCm39) |
S293P |
probably damaging |
Het |
| Nalcn |
A |
G |
14: 123,535,479 (GRCm39) |
S1282P |
probably damaging |
Het |
| Npepps |
A |
T |
11: 97,096,828 (GRCm39) |
|
probably benign |
Het |
| Or4a72 |
A |
T |
2: 89,405,309 (GRCm39) |
F254I |
probably benign |
Het |
| Or4c108 |
T |
G |
2: 88,803,612 (GRCm39) |
I208L |
probably benign |
Het |
| Or8u10 |
A |
T |
2: 85,915,701 (GRCm39) |
V140E |
possibly damaging |
Het |
| Or9m1 |
T |
G |
2: 87,733,946 (GRCm39) |
S25R |
probably benign |
Het |
| Pkn3 |
C |
A |
2: 29,980,562 (GRCm39) |
R818S |
possibly damaging |
Het |
| Plekha3 |
T |
A |
2: 76,517,745 (GRCm39) |
H190Q |
probably damaging |
Het |
| Ppp2r3c |
A |
T |
12: 55,335,281 (GRCm39) |
S261T |
probably benign |
Het |
| Ptprj |
T |
C |
2: 90,281,195 (GRCm39) |
D1015G |
probably benign |
Het |
| Pus10 |
T |
C |
11: 23,679,037 (GRCm39) |
M503T |
possibly damaging |
Het |
| Pvr |
T |
C |
7: 19,652,604 (GRCm39) |
R104G |
possibly damaging |
Het |
| Rubcnl |
A |
G |
14: 75,289,450 (GRCm39) |
R653G |
probably benign |
Het |
| Semp2l2a |
A |
T |
8: 13,887,083 (GRCm39) |
L336Q |
probably damaging |
Het |
| Serpina1a |
G |
T |
12: 103,826,679 (GRCm39) |
|
probably benign |
Het |
| Shank3 |
G |
A |
15: 89,416,656 (GRCm39) |
R265Q |
probably damaging |
Het |
| Slc22a22 |
C |
T |
15: 57,110,928 (GRCm39) |
R433H |
probably damaging |
Het |
| Slc22a26 |
A |
G |
19: 7,779,726 (GRCm39) |
I30T |
probably benign |
Het |
| Spz1 |
A |
T |
13: 92,711,992 (GRCm39) |
N161K |
possibly damaging |
Het |
| Tacc2 |
A |
G |
7: 130,330,492 (GRCm39) |
R259G |
probably damaging |
Het |
| Top1 |
G |
A |
2: 160,554,616 (GRCm39) |
V456M |
probably damaging |
Het |
| Tpcn2 |
G |
A |
7: 144,810,257 (GRCm39) |
A649V |
probably benign |
Het |
| Trank1 |
C |
G |
9: 111,194,984 (GRCm39) |
R1003G |
probably damaging |
Het |
| Tril |
T |
A |
6: 53,796,559 (GRCm39) |
H221L |
possibly damaging |
Het |
| Unc79 |
C |
T |
12: 103,071,120 (GRCm39) |
T1305I |
probably damaging |
Het |
| Unc80 |
C |
T |
1: 66,722,350 (GRCm39) |
A2988V |
possibly damaging |
Het |
| Vinac1 |
A |
C |
2: 128,879,976 (GRCm39) |
V650G |
probably benign |
Het |
| Vmn1r81 |
A |
T |
7: 11,994,599 (GRCm39) |
M3K |
probably damaging |
Het |
| Vmn2r78 |
A |
T |
7: 86,603,466 (GRCm39) |
D548V |
probably damaging |
Het |
| Vwa3b |
G |
A |
1: 37,084,112 (GRCm39) |
R95Q |
probably damaging |
Het |
| Wdr6 |
G |
A |
9: 108,452,093 (GRCm39) |
H597Y |
probably benign |
Het |
| Yme1l1 |
C |
T |
2: 23,084,774 (GRCm39) |
T624I |
probably damaging |
Het |
|
| Other mutations in Dtnb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01866:Dtnb
|
APN |
12 |
3,782,626 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02269:Dtnb
|
APN |
12 |
3,646,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02710:Dtnb
|
APN |
12 |
3,698,380 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0004:Dtnb
|
UTSW |
12 |
3,646,635 (GRCm39) |
splice site |
probably benign |
|
|
R0449:Dtnb
|
UTSW |
12 |
3,641,971 (GRCm39) |
nonsense |
probably null |
|
|
R0601:Dtnb
|
UTSW |
12 |
3,785,039 (GRCm39) |
splice site |
probably benign |
|
|
R1242:Dtnb
|
UTSW |
12 |
3,782,627 (GRCm39) |
nonsense |
probably null |
|
|
R1582:Dtnb
|
UTSW |
12 |
3,823,554 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1719:Dtnb
|
UTSW |
12 |
3,693,936 (GRCm39) |
nonsense |
probably null |
|
|
R1960:Dtnb
|
UTSW |
12 |
3,831,190 (GRCm39) |
missense |
probably benign |
0.34 |
|
R2073:Dtnb
|
UTSW |
12 |
3,831,273 (GRCm39) |
missense |
probably benign |
|
|
R2074:Dtnb
|
UTSW |
12 |
3,831,273 (GRCm39) |
missense |
probably benign |
|
|
R3423:Dtnb
|
UTSW |
12 |
3,641,962 (GRCm39) |
nonsense |
probably null |
|
|
R3708:Dtnb
|
UTSW |
12 |
3,639,156 (GRCm39) |
splice site |
probably null |
|
|
R4788:Dtnb
|
UTSW |
12 |
3,822,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4816:Dtnb
|
UTSW |
12 |
3,799,505 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5086:Dtnb
|
UTSW |
12 |
3,682,942 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5725:Dtnb
|
UTSW |
12 |
3,823,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6835:Dtnb
|
UTSW |
12 |
3,682,841 (GRCm39) |
intron |
probably benign |
|
|
R6912:Dtnb
|
UTSW |
12 |
3,698,221 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7078:Dtnb
|
UTSW |
12 |
3,798,480 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7105:Dtnb
|
UTSW |
12 |
3,698,391 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7408:Dtnb
|
UTSW |
12 |
3,694,272 (GRCm39) |
splice site |
probably null |
|
|
R7538:Dtnb
|
UTSW |
12 |
3,823,611 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8239:Dtnb
|
UTSW |
12 |
3,694,056 (GRCm39) |
missense |
unknown |
|
|
R9082:Dtnb
|
UTSW |
12 |
3,822,740 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9550:Dtnb
|
UTSW |
12 |
3,768,437 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9742:Dtnb
|
UTSW |
12 |
3,736,740 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0026:Dtnb
|
UTSW |
12 |
3,736,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0060:Dtnb
|
UTSW |
12 |
3,646,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACAGTGAAATCTGATTGGTGC -3'
(R):5'- GTGGCAGACAACCCAATTCC -3'
Sequencing Primer
(F):5'- TGGTGCTTGAAAAGATATTTCCC -3'
(R):5'- ACCATAATCGTTCTTTGGGGTAC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation