Incidental Mutation 'IGL01596:Dbnl'
| ID |
91941 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dbnl
|
| Ensembl Gene |
ENSMUSG00000020476 |
| Gene Name |
drebrin-like |
| Synonyms |
ABP1, SH3P7, mAbp1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.206)
|
| Stock # |
IGL01596
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
5738488-5750962 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5748279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 336
(Y336C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105471
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020768]
[ENSMUST00000020769]
[ENSMUST00000102928]
[ENSMUST00000109845]
|
| AlphaFold |
Q62418 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020768
|
| SMART Domains |
Protein: ENSMUSP00000020768
Gene: ENSMUSG00000020475
| Domain | Start | End | E-Value | Type |
|---|
|
PGAM
|
5 |
193 |
8.71e-20 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020769
AA Change: Y340C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020769
Gene: ENSMUSG00000020476
AA Change: Y340C
| Domain | Start | End | E-Value | Type |
|---|
|
ADF
|
7 |
133 |
2.39e-31 |
SMART |
|
coiled coil region
|
180 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
334 |
345 |
N/A |
INTRINSIC |
|
SH3
|
380 |
436 |
1.62e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102928
AA Change: Y337C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099992
Gene: ENSMUSG00000020476
AA Change: Y337C
| Domain | Start | End | E-Value | Type |
|---|
|
ADF
|
7 |
133 |
2.39e-31 |
SMART |
|
coiled coil region
|
180 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
342 |
N/A |
INTRINSIC |
|
SH3
|
377 |
433 |
1.62e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109845
AA Change: Y336C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105471
Gene: ENSMUSG00000020476
AA Change: Y336C
| Domain | Start | End | E-Value | Type |
|---|
|
ADF
|
7 |
133 |
2.39e-31 |
SMART |
|
coiled coil region
|
180 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
330 |
341 |
N/A |
INTRINSIC |
|
SH3
|
376 |
432 |
1.62e-16 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Targeted mutation causes abnormal structure and function in organs including the spleen, heart and lungs. Vesicle transport is impaired in the brain and neurological impairment is observed. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh7 |
T |
C |
3: 137,932,003 (GRCm39) |
S206P |
probably damaging |
Het |
| Arhgef10 |
G |
T |
8: 15,049,468 (GRCm39) |
E869* |
probably null |
Het |
| C87436 |
T |
A |
6: 86,423,201 (GRCm39) |
D258E |
probably damaging |
Het |
| Casp8ap2 |
A |
G |
4: 32,646,365 (GRCm39) |
K1813E |
probably damaging |
Het |
| Cd209b |
T |
A |
8: 3,968,744 (GRCm39) |
D304V |
probably damaging |
Het |
| Chmp2b |
T |
C |
16: 65,359,363 (GRCm39) |
D11G |
probably benign |
Het |
| Comp |
A |
G |
8: 70,831,285 (GRCm39) |
N384S |
probably damaging |
Het |
| Faf2 |
G |
T |
13: 54,769,716 (GRCm39) |
Q21H |
probably null |
Het |
| Fam117b |
A |
T |
1: 59,992,130 (GRCm39) |
K260* |
probably null |
Het |
| Gramd1b |
A |
G |
9: 40,214,809 (GRCm39) |
L379P |
probably damaging |
Het |
| Iars1 |
A |
G |
13: 49,856,652 (GRCm39) |
N302D |
probably benign |
Het |
| Kcnh6 |
C |
T |
11: 105,917,572 (GRCm39) |
T702I |
probably benign |
Het |
| Kdelr2 |
A |
G |
5: 143,398,330 (GRCm39) |
Y59C |
probably damaging |
Het |
| Mgam |
T |
C |
6: 40,635,204 (GRCm39) |
Y300H |
probably damaging |
Het |
| Or3a1d |
T |
C |
11: 74,238,245 (GRCm39) |
E55G |
possibly damaging |
Het |
| Or4e1 |
C |
T |
14: 52,700,822 (GRCm39) |
V215M |
probably damaging |
Het |
| Or4k40 |
A |
G |
2: 111,251,237 (GRCm39) |
S20P |
probably benign |
Het |
| Pcdh17 |
T |
C |
14: 84,685,632 (GRCm39) |
W700R |
probably damaging |
Het |
| Pigq |
T |
G |
17: 26,146,660 (GRCm39) |
H615P |
possibly damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,392,806 (GRCm39) |
S1714T |
possibly damaging |
Het |
| Polr1b |
G |
T |
2: 128,952,046 (GRCm39) |
R358I |
probably benign |
Het |
| Tmprss11a |
C |
A |
5: 86,570,378 (GRCm39) |
V194F |
probably damaging |
Het |
| Trhr |
T |
C |
15: 44,092,708 (GRCm39) |
I315T |
probably damaging |
Het |
| Ttc38 |
G |
A |
15: 85,720,274 (GRCm39) |
V79M |
possibly damaging |
Het |
| Ubr4 |
T |
A |
4: 139,189,845 (GRCm39) |
|
probably benign |
Het |
| Vmn2r45 |
T |
C |
7: 8,486,272 (GRCm39) |
T339A |
probably damaging |
Het |
| Vps53 |
A |
G |
11: 75,953,863 (GRCm39) |
F501S |
probably damaging |
Het |
|
| Other mutations in Dbnl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00902:Dbnl
|
APN |
11 |
5,748,105 (GRCm39) |
missense |
probably benign |
|
|
IGL01101:Dbnl
|
APN |
11 |
5,743,722 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01924:Dbnl
|
APN |
11 |
5,747,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02331:Dbnl
|
APN |
11 |
5,749,997 (GRCm39) |
makesense |
probably null |
|
|
R0433:Dbnl
|
UTSW |
11 |
5,746,825 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0646:Dbnl
|
UTSW |
11 |
5,745,441 (GRCm39) |
splice site |
probably benign |
|
|
R0656:Dbnl
|
UTSW |
11 |
5,747,321 (GRCm39) |
missense |
probably benign |
|
|
R1037:Dbnl
|
UTSW |
11 |
5,746,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1691:Dbnl
|
UTSW |
11 |
5,747,174 (GRCm39) |
missense |
probably null |
0.12 |
|
R1883:Dbnl
|
UTSW |
11 |
5,749,247 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1884:Dbnl
|
UTSW |
11 |
5,749,247 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7033:Dbnl
|
UTSW |
11 |
5,748,102 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7541:Dbnl
|
UTSW |
11 |
5,745,486 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7702:Dbnl
|
UTSW |
11 |
5,748,048 (GRCm39) |
missense |
probably benign |
|
|
R7761:Dbnl
|
UTSW |
11 |
5,738,597 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7904:Dbnl
|
UTSW |
11 |
5,741,779 (GRCm39) |
splice site |
probably null |
|
|
R8725:Dbnl
|
UTSW |
11 |
5,738,582 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8727:Dbnl
|
UTSW |
11 |
5,738,582 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8837:Dbnl
|
UTSW |
11 |
5,741,839 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1088:Dbnl
|
UTSW |
11 |
5,746,797 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation