Incidental Mutation 'R5725:Dtnb'
| ID |
452457 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dtnb
|
| Ensembl Gene |
ENSMUSG00000071454 |
| Gene Name |
dystrobrevin, beta |
| Synonyms |
|
| MMRRC Submission |
043343-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5725 (G1)
|
| Quality Score |
213 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
3622381-3831796 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3823566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 584
(L584H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134146
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077930]
[ENSMUST00000101637]
[ENSMUST00000164578]
[ENSMUST00000164607]
[ENSMUST00000173199]
[ENSMUST00000174663]
[ENSMUST00000174547]
[ENSMUST00000173240]
[ENSMUST00000173483]
[ENSMUST00000173736]
[ENSMUST00000173542]
[ENSMUST00000174290]
[ENSMUST00000174639]
|
| AlphaFold |
O70585 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077930
AA Change: L577H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077085
Gene: ENSMUSG00000071454
AA Change: L577H
| 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 damaging
Transcript: ENSMUST00000101637
AA Change: L584H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099161
Gene: ENSMUSG00000071454
AA Change: L584H
| 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 damaging
Transcript: ENSMUST00000164578
AA Change: L577H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126194
Gene: ENSMUSG00000071454
AA Change: L577H
| 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 damaging
Transcript: ENSMUST00000164607
AA Change: L577H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128230
Gene: ENSMUSG00000071454
AA Change: L577H
| 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: ENSMUST00000172504
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000172598
AA Change: L390H
|
| SMART Domains |
Protein: ENSMUSP00000134124
Gene: ENSMUSG00000071454
AA Change: L390H
| 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: ENSMUST00000172735
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173199
AA Change: L584H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134392
Gene: ENSMUSG00000071454
AA Change: L584H
| 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 |
probably damaging
Transcript: ENSMUST00000174663
AA Change: L584H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134146
Gene: ENSMUSG00000071454
AA Change: L584H
| 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 |
noncoding transcript
Transcript: ENSMUST00000174414
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174547
|
| SMART Domains |
Protein: ENSMUSP00000133927
Gene: ENSMUSG00000071454
| 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: ENSMUST00000173240
|
| SMART Domains |
Protein: ENSMUSP00000133722
Gene: ENSMUSG00000071454
| 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 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: ENSMUST00000173736
|
| SMART Domains |
Protein: ENSMUSP00000134519
Gene: ENSMUSG00000071454
| 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 |
probably benign
Transcript: ENSMUST00000173542
|
| SMART Domains |
Protein: ENSMUSP00000134036
Gene: ENSMUSG00000071454
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
55 |
N/A |
INTRINSIC |
|
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
A |
12: 71,240,093 (GRCm39) |
R1301H |
probably benign |
Het |
| 6030468B19Rik |
G |
T |
11: 117,696,883 (GRCm39) |
S201I |
probably damaging |
Het |
| Abca13 |
G |
A |
11: 9,527,181 (GRCm39) |
M4531I |
probably benign |
Het |
| Abca2 |
A |
G |
2: 25,329,412 (GRCm39) |
M1058V |
probably damaging |
Het |
| Agrn |
T |
A |
4: 156,258,332 (GRCm39) |
T938S |
probably benign |
Het |
| Aloxe3 |
A |
T |
11: 69,019,480 (GRCm39) |
D131V |
probably null |
Het |
| Angptl7 |
C |
A |
4: 148,580,965 (GRCm39) |
A277S |
possibly damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,454,731 (GRCm39) |
M244T |
probably damaging |
Het |
| Aplp2 |
T |
C |
9: 31,069,110 (GRCm39) |
D573G |
probably damaging |
Het |
| Arid5a |
G |
T |
1: 36,358,211 (GRCm39) |
E176* |
probably null |
Het |
| Atp8b4 |
A |
T |
2: 126,275,856 (GRCm39) |
N125K |
probably benign |
Het |
| Auts2 |
A |
G |
5: 131,468,584 (GRCm39) |
V911A |
probably benign |
Het |
| Bahcc1 |
G |
A |
11: 120,165,714 (GRCm39) |
R990H |
probably benign |
Het |
| Cd84 |
T |
C |
1: 171,700,928 (GRCm39) |
F230L |
probably benign |
Het |
| Dync2h1 |
A |
C |
9: 7,169,528 (GRCm39) |
S316R |
probably benign |
Het |
| Eif3m |
A |
G |
2: 104,844,186 (GRCm39) |
I73T |
probably damaging |
Het |
| Emilin3 |
A |
T |
2: 160,750,410 (GRCm39) |
C399* |
probably null |
Het |
| Fam118a |
A |
G |
15: 84,929,822 (GRCm39) |
K17E |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 38,943,774 (GRCm39) |
N889S |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,273,827 (GRCm39) |
|
probably null |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Igsf21 |
T |
C |
4: 139,762,054 (GRCm39) |
D208G |
probably benign |
Het |
| Itgax |
A |
G |
7: 127,747,033 (GRCm39) |
T945A |
possibly damaging |
Het |
| Itsn2 |
T |
A |
12: 4,680,767 (GRCm39) |
|
probably benign |
Het |
| Kcna4 |
A |
G |
2: 107,127,221 (GRCm39) |
T652A |
possibly damaging |
Het |
| Kir3dl1 |
G |
A |
X: 135,427,231 (GRCm39) |
D56N |
probably damaging |
Het |
| Lrp4 |
A |
G |
2: 91,325,240 (GRCm39) |
Y1355C |
probably damaging |
Het |
| Mmp9 |
C |
A |
2: 164,791,256 (GRCm39) |
A142E |
possibly damaging |
Het |
| Mpeg1 |
T |
C |
19: 12,440,000 (GRCm39) |
V486A |
probably benign |
Het |
| Mrgprb3 |
A |
T |
7: 48,293,548 (GRCm39) |
M1K |
probably null |
Het |
| Mrtfb |
A |
T |
16: 13,202,174 (GRCm39) |
K146* |
probably null |
Het |
| Nacad |
T |
C |
11: 6,551,643 (GRCm39) |
E516G |
probably benign |
Het |
| Or5k15 |
G |
A |
16: 58,710,250 (GRCm39) |
T111I |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pappa |
T |
A |
4: 65,107,647 (GRCm39) |
V686E |
probably damaging |
Het |
| Polr3a |
A |
T |
14: 24,515,455 (GRCm39) |
|
probably null |
Het |
| Ppp1r3a |
A |
G |
6: 14,719,348 (GRCm39) |
V522A |
probably benign |
Het |
| Rab6b |
T |
A |
9: 103,041,061 (GRCm39) |
F152I |
probably damaging |
Het |
| Sacs |
G |
A |
14: 61,448,559 (GRCm39) |
R3535Q |
probably damaging |
Het |
| Septin14 |
T |
C |
5: 129,766,630 (GRCm39) |
D317G |
probably damaging |
Het |
| Sin3b |
T |
C |
8: 73,452,320 (GRCm39) |
|
probably null |
Het |
| Sis |
G |
A |
3: 72,872,931 (GRCm39) |
P69L |
probably damaging |
Het |
| Slc12a3 |
G |
T |
8: 95,057,074 (GRCm39) |
V116L |
probably benign |
Het |
| Slc16a12 |
A |
T |
19: 34,652,227 (GRCm39) |
F306L |
probably damaging |
Het |
| Slc39a12 |
T |
C |
2: 14,394,075 (GRCm39) |
|
probably benign |
Het |
| Smg6 |
A |
G |
11: 74,821,439 (GRCm39) |
Q570R |
probably benign |
Het |
| Sptb |
G |
A |
12: 76,669,888 (GRCm39) |
A480V |
probably benign |
Het |
| Srsf4 |
C |
A |
4: 131,628,262 (GRCm39) |
|
probably benign |
Het |
| Topors |
T |
C |
4: 40,261,952 (GRCm39) |
D444G |
probably damaging |
Het |
| Trav19 |
A |
C |
14: 54,082,999 (GRCm39) |
T25P |
possibly damaging |
Het |
| Trim3 |
A |
G |
7: 105,266,947 (GRCm39) |
|
probably null |
Het |
| Ugt2a2 |
T |
C |
5: 87,622,755 (GRCm39) |
N281S |
probably damaging |
Het |
| Vmn1r12 |
A |
G |
6: 57,136,694 (GRCm39) |
I264V |
probably benign |
Het |
| Vmn2r94 |
T |
A |
17: 18,476,489 (GRCm39) |
I403F |
possibly damaging |
Het |
| Zzef1 |
G |
A |
11: 72,746,308 (GRCm39) |
R870Q |
possibly 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 |
|
R6724:Dtnb
|
UTSW |
12 |
3,736,817 (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'- GAAACCCCTGCTCTCTACTGTG -3'
(R):5'- GGGTGAAGATCCCCTGTATTCC -3'
Sequencing Primer
(F):5'- TGGCGCCCACAAAGCAG -3'
(R):5'- AGATCCCCTGTATTCCTAGAAGGG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation