Incidental Mutation 'R0765:Dbn1'
| ID |
72621 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dbn1
|
| Ensembl Gene |
ENSMUSG00000034675 |
| Gene Name |
drebrin 1 |
| Synonyms |
drebrin E2, drebrin A |
| MMRRC Submission |
038945-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.841)
|
| Stock # |
R0765 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
55621242-55635924 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 55630107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 112
(V112F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105549
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021950]
[ENSMUST00000109921]
[ENSMUST00000109923]
[ENSMUST00000139275]
|
| AlphaFold |
Q9QXS6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021950
AA Change: V112F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021950
Gene: ENSMUSG00000034675
AA Change: V112F
| Domain | Start | End | E-Value | Type |
|---|
|
ADF
|
8 |
134 |
2.34e-25 |
SMART |
|
coiled coil region
|
176 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
263 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
346 |
N/A |
INTRINSIC |
|
low complexity region
|
453 |
473 |
N/A |
INTRINSIC |
|
low complexity region
|
477 |
498 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
518 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
637 |
N/A |
INTRINSIC |
|
low complexity region
|
655 |
668 |
N/A |
INTRINSIC |
|
low complexity region
|
697 |
705 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109921
AA Change: V112F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105547
Gene: ENSMUSG00000034675
AA Change: V112F
| Domain | Start | End | E-Value | Type |
|---|
|
ADF
|
8 |
134 |
2.34e-25 |
SMART |
|
coiled coil region
|
176 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
263 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
431 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
456 |
472 |
N/A |
INTRINSIC |
|
low complexity region
|
573 |
591 |
N/A |
INTRINSIC |
|
low complexity region
|
610 |
623 |
N/A |
INTRINSIC |
|
low complexity region
|
652 |
660 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109923
AA Change: V112F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105549
Gene: ENSMUSG00000034675
AA Change: V112F
| Domain | Start | End | E-Value | Type |
|---|
|
ADF
|
8 |
134 |
2.34e-25 |
SMART |
|
coiled coil region
|
176 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
263 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
431 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
456 |
472 |
N/A |
INTRINSIC |
|
low complexity region
|
573 |
591 |
N/A |
INTRINSIC |
|
low complexity region
|
609 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
651 |
659 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124480
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127867
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135705
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139275
AA Change: V49F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122574
Gene: ENSMUSG00000034675
AA Change: V49F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cofilin_ADF
|
1 |
71 |
9.1e-14 |
PFAM |
|
coiled coil region
|
113 |
169 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175813
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183653
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139516
|
| Meta Mutation Damage Score |
0.6139 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.8%
- 20x: 92.7%
|
| Validation Efficiency |
100% (62/62) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytoplasmic actin-binding protein thought to play a role in the process of neuronal growth. It is a member of the drebrin family of proteins that are developmentally regulated in the brain. A decrease in the amount of this protein in the brain has been implicated as a possible contributing factor in the pathogenesis of memory disturbance in Alzheimer's disease. At least two alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display impaired cued conditioning behavior. Mice homozygous for a different knock-out allele show altered neurotransmitter receptor levels in protein complexes, abnormal dendritic spine morphology, and impaired synaptic plasticity in the hippocampus. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16a |
T |
A |
17: 35,320,827 (GRCm39) |
V425D |
probably benign |
Het |
| Ano9 |
T |
G |
7: 140,687,097 (GRCm39) |
I381L |
probably damaging |
Het |
| Apob |
C |
T |
12: 8,066,518 (GRCm39) |
L4496F |
probably benign |
Het |
| Arhgef38 |
C |
T |
3: 132,822,344 (GRCm39) |
E724K |
probably damaging |
Het |
| Atp8b4 |
T |
A |
2: 126,214,070 (GRCm39) |
|
probably null |
Het |
| Baiap2l1 |
G |
T |
5: 144,214,513 (GRCm39) |
P394T |
probably damaging |
Het |
| Btbd8 |
T |
A |
5: 107,654,800 (GRCm39) |
D354E |
probably benign |
Het |
| Cnbp |
C |
A |
6: 87,822,155 (GRCm39) |
C122F |
probably damaging |
Het |
| Col3a1 |
A |
G |
1: 45,375,811 (GRCm39) |
|
probably benign |
Het |
| Colq |
T |
G |
14: 31,247,994 (GRCm39) |
D408A |
possibly damaging |
Het |
| Cuzd1 |
A |
T |
7: 130,917,824 (GRCm39) |
S259T |
probably benign |
Het |
| Cyp3a57 |
A |
G |
5: 145,327,220 (GRCm39) |
|
probably benign |
Het |
| Dcc |
T |
A |
18: 71,496,061 (GRCm39) |
D1028V |
probably damaging |
Het |
| Dnajb11 |
T |
C |
16: 22,681,318 (GRCm39) |
V32A |
probably damaging |
Het |
| Dsg4 |
G |
A |
18: 20,587,703 (GRCm39) |
|
probably benign |
Het |
| Dyrk1b |
C |
T |
7: 27,885,136 (GRCm39) |
|
probably benign |
Het |
| Ebf1 |
T |
A |
11: 44,759,987 (GRCm39) |
M208K |
probably damaging |
Het |
| Efhc1 |
A |
G |
1: 21,048,876 (GRCm39) |
I430V |
probably benign |
Het |
| Elovl2 |
T |
C |
13: 41,340,942 (GRCm39) |
Y181C |
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,700,655 (GRCm39) |
Q225R |
probably benign |
Het |
| Frmd3 |
G |
A |
4: 74,080,004 (GRCm39) |
R332Q |
probably damaging |
Het |
| Glg1 |
A |
G |
8: 111,886,429 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
G |
A |
1: 150,684,538 (GRCm39) |
T344M |
probably damaging |
Het |
| Il1rap |
T |
G |
16: 26,529,382 (GRCm39) |
|
probably null |
Het |
| Klra1 |
A |
T |
6: 130,356,055 (GRCm39) |
|
probably benign |
Het |
| Larp7 |
C |
A |
3: 127,339,814 (GRCm39) |
K289N |
probably damaging |
Het |
| Lgr6 |
C |
A |
1: 134,921,624 (GRCm39) |
G240V |
probably benign |
Het |
| Lrp10 |
G |
T |
14: 54,705,547 (GRCm39) |
D246Y |
probably damaging |
Het |
| Map3k20 |
G |
A |
2: 72,202,269 (GRCm39) |
V167I |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,776,608 (GRCm39) |
S347P |
probably damaging |
Het |
| Mybph |
T |
C |
1: 134,125,234 (GRCm39) |
V254A |
possibly damaging |
Het |
| Ndufv2 |
A |
G |
17: 66,408,073 (GRCm39) |
|
probably benign |
Het |
| Nuf2 |
A |
T |
1: 169,350,505 (GRCm39) |
|
probably benign |
Het |
| Nup210l |
T |
C |
3: 90,027,184 (GRCm39) |
Y189H |
probably damaging |
Het |
| Or4c52 |
G |
A |
2: 89,846,014 (GRCm39) |
V247I |
probably benign |
Het |
| Or51t4 |
C |
T |
7: 102,597,939 (GRCm39) |
T79I |
probably damaging |
Het |
| Or5m13 |
T |
C |
2: 85,749,049 (GRCm39) |
L260P |
probably damaging |
Het |
| Pdgfra |
C |
A |
5: 75,348,648 (GRCm39) |
|
probably benign |
Het |
| Phlpp1 |
T |
C |
1: 106,320,013 (GRCm39) |
L1336P |
probably damaging |
Het |
| Prpf38b |
T |
C |
3: 108,818,734 (GRCm39) |
T9A |
possibly damaging |
Het |
| Rnf213 |
G |
A |
11: 119,313,921 (GRCm39) |
|
probably null |
Het |
| Saal1 |
A |
T |
7: 46,349,071 (GRCm39) |
V281E |
possibly damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,030,879 (GRCm39) |
Q186* |
probably null |
Het |
| Slc6a2 |
A |
G |
8: 93,715,659 (GRCm39) |
T266A |
probably damaging |
Het |
| Snai2 |
T |
C |
16: 14,524,668 (GRCm39) |
V58A |
possibly damaging |
Het |
| Srfbp1 |
T |
C |
18: 52,623,507 (GRCm39) |
|
probably benign |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Tesk1 |
C |
T |
4: 43,446,706 (GRCm39) |
P365S |
possibly damaging |
Het |
| Tmem127 |
C |
A |
2: 127,099,069 (GRCm39) |
T201K |
probably damaging |
Het |
| Trim17 |
T |
G |
11: 58,862,195 (GRCm39) |
V409G |
possibly damaging |
Het |
| Trim43c |
C |
T |
9: 88,723,969 (GRCm39) |
T165I |
probably benign |
Het |
| Ush2a |
C |
A |
1: 188,680,771 (GRCm39) |
F4916L |
possibly damaging |
Het |
| Vmn1r89 |
A |
G |
7: 12,953,467 (GRCm39) |
M68V |
probably benign |
Het |
| Vmn2r105 |
C |
T |
17: 20,447,973 (GRCm39) |
E284K |
probably benign |
Het |
| Vmn2r105 |
T |
C |
17: 20,448,119 (GRCm39) |
D235G |
probably damaging |
Het |
| Vmn2r-ps134 |
C |
T |
17: 23,665,015 (GRCm39) |
|
noncoding transcript |
Het |
| Zdbf2 |
G |
A |
1: 63,344,882 (GRCm39) |
S1087N |
possibly damaging |
Het |
| Zfp534 |
G |
A |
4: 147,758,693 (GRCm39) |
P659S |
probably damaging |
Het |
|
| Other mutations in Dbn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00849:Dbn1
|
APN |
13 |
55,630,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01408:Dbn1
|
APN |
13 |
55,630,117 (GRCm39) |
splice site |
probably benign |
|
|
IGL02123:Dbn1
|
APN |
13 |
55,624,553 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0026:Dbn1
|
UTSW |
13 |
55,625,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0318:Dbn1
|
UTSW |
13 |
55,622,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0319:Dbn1
|
UTSW |
13 |
55,622,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0400:Dbn1
|
UTSW |
13 |
55,622,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0417:Dbn1
|
UTSW |
13 |
55,622,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0905:Dbn1
|
UTSW |
13 |
55,622,040 (GRCm39) |
unclassified |
probably benign |
|
|
R1695:Dbn1
|
UTSW |
13 |
55,624,521 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1844:Dbn1
|
UTSW |
13 |
55,629,160 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1997:Dbn1
|
UTSW |
13 |
55,630,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2912:Dbn1
|
UTSW |
13 |
55,630,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2914:Dbn1
|
UTSW |
13 |
55,630,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4398:Dbn1
|
UTSW |
13 |
55,623,194 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4477:Dbn1
|
UTSW |
13 |
55,629,374 (GRCm39) |
small deletion |
probably benign |
|
|
R4515:Dbn1
|
UTSW |
13 |
55,624,042 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4518:Dbn1
|
UTSW |
13 |
55,624,042 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4519:Dbn1
|
UTSW |
13 |
55,624,042 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4678:Dbn1
|
UTSW |
13 |
55,623,071 (GRCm39) |
missense |
probably benign |
|
|
R4886:Dbn1
|
UTSW |
13 |
55,625,355 (GRCm39) |
unclassified |
probably benign |
|
|
R6272:Dbn1
|
UTSW |
13 |
55,622,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6741:Dbn1
|
UTSW |
13 |
55,629,350 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7840:Dbn1
|
UTSW |
13 |
55,623,322 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8339:Dbn1
|
UTSW |
13 |
55,629,982 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9329:Dbn1
|
UTSW |
13 |
55,631,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9386:Dbn1
|
UTSW |
13 |
55,629,760 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9388:Dbn1
|
UTSW |
13 |
55,624,088 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9588:Dbn1
|
UTSW |
13 |
55,622,785 (GRCm39) |
missense |
probably benign |
|
|
R9741:Dbn1
|
UTSW |
13 |
55,624,114 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9762:Dbn1
|
UTSW |
13 |
55,622,824 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9777:Dbn1
|
UTSW |
13 |
55,625,639 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGGCTACAGCATTGCCCAC -3'
(R):5'- TGATGCCCGAAAATGTGCTTGC -3'
Sequencing Primer
(F):5'- TGCAGAGTCAAGTGCCTG -3'
(R):5'- AAAATGTGCTTGCGCCAGTC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation