Incidental Mutation 'R2912:Dbn1'
| ID |
261319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dbn1
|
| Ensembl Gene |
ENSMUSG00000034675 |
| Gene Name |
drebrin 1 |
| Synonyms |
drebrin E2, drebrin A |
| MMRRC Submission |
040499-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.841)
|
| Stock # |
R2912 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
55621242-55635924 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55630234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 45
(F45L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122574
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021950]
[ENSMUST00000109921]
[ENSMUST00000109923]
[ENSMUST00000139275]
|
| AlphaFold |
Q9QXS6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021950
AA Change: F108L
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000021950
Gene: ENSMUSG00000034675
AA Change: F108L
| 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 benign
Transcript: ENSMUST00000109921
AA Change: F108L
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000105547
Gene: ENSMUSG00000034675
AA Change: F108L
| 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 benign
Transcript: ENSMUST00000109923
AA Change: F108L
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000105549
Gene: ENSMUSG00000034675
AA Change: F108L
| 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: F45L
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000122574
Gene: ENSMUSG00000034675
AA Change: F45L
| 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: ENSMUST00000183653
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175813
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139516
|
| Meta Mutation Damage Score |
0.7678 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aloxe3 |
A |
T |
11: 69,020,866 (GRCm39) |
K197M |
probably damaging |
Het |
| Asxl2 |
A |
G |
12: 3,524,517 (GRCm39) |
K182E |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,999,201 (GRCm39) |
D4643G |
probably damaging |
Het |
| Bmpr1b |
T |
C |
3: 141,586,139 (GRCm39) |
D41G |
probably benign |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Creb3l1 |
T |
C |
2: 91,817,398 (GRCm39) |
T372A |
possibly damaging |
Het |
| Dhx29 |
A |
G |
13: 113,072,109 (GRCm39) |
E251G |
probably damaging |
Het |
| Dnajc27 |
C |
T |
12: 4,146,280 (GRCm39) |
S103L |
probably damaging |
Het |
| Dync1li1 |
T |
G |
9: 114,544,743 (GRCm39) |
N348K |
probably benign |
Het |
| Emc1 |
T |
C |
4: 139,092,571 (GRCm39) |
S504P |
possibly damaging |
Het |
| F5 |
A |
G |
1: 164,021,488 (GRCm39) |
D1321G |
probably damaging |
Het |
| Garin4 |
T |
C |
1: 190,895,425 (GRCm39) |
N406S |
probably benign |
Het |
| Gpr157 |
G |
A |
4: 150,183,222 (GRCm39) |
V131I |
probably benign |
Het |
| Hprt1 |
T |
C |
X: 52,109,016 (GRCm39) |
Y174H |
probably damaging |
Het |
| Kcnq2 |
A |
G |
2: 180,723,567 (GRCm39) |
V603A |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 26,876,799 (GRCm39) |
S2716G |
probably benign |
Het |
| Lax1 |
A |
G |
1: 133,611,791 (GRCm39) |
V48A |
possibly damaging |
Het |
| Macf1 |
T |
A |
4: 123,369,704 (GRCm39) |
I121F |
probably damaging |
Het |
| Med17 |
A |
G |
9: 15,187,210 (GRCm39) |
L188P |
probably damaging |
Het |
| Mfsd5 |
A |
G |
15: 102,189,743 (GRCm39) |
T372A |
probably benign |
Het |
| Mrgprb5 |
T |
C |
7: 47,817,815 (GRCm39) |
S307G |
probably benign |
Het |
| Mroh9 |
T |
C |
1: 162,871,572 (GRCm39) |
Y637C |
probably damaging |
Het |
| Nherf2 |
C |
T |
17: 24,861,215 (GRCm39) |
G71S |
probably damaging |
Het |
| Nktr |
T |
C |
9: 121,578,670 (GRCm39) |
|
probably benign |
Het |
| Nrg1 |
A |
G |
8: 32,308,595 (GRCm39) |
S474P |
probably damaging |
Het |
| Nup210 |
T |
G |
6: 91,003,956 (GRCm39) |
D644A |
probably damaging |
Het |
| Or10ak7 |
A |
G |
4: 118,791,898 (GRCm39) |
I47T |
probably benign |
Het |
| Or4c11 |
A |
T |
2: 88,695,458 (GRCm39) |
N170Y |
probably benign |
Het |
| Or5j3 |
A |
G |
2: 86,128,733 (GRCm39) |
D191G |
probably damaging |
Het |
| Or8g34 |
T |
C |
9: 39,373,512 (GRCm39) |
Y259H |
probably damaging |
Het |
| Panx2 |
A |
G |
15: 88,954,024 (GRCm39) |
I660V |
probably benign |
Het |
| Pramel13 |
T |
C |
4: 144,119,304 (GRCm39) |
E421G |
probably damaging |
Het |
| Prx |
C |
T |
7: 27,215,654 (GRCm39) |
P52S |
probably damaging |
Het |
| Ptprf |
A |
G |
4: 118,106,177 (GRCm39) |
S206P |
probably damaging |
Het |
| Rbm45 |
C |
T |
2: 76,205,798 (GRCm39) |
P217S |
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,594,226 (GRCm39) |
D382G |
probably damaging |
Het |
| Ric3 |
A |
G |
7: 108,653,660 (GRCm39) |
F144L |
possibly damaging |
Het |
| Snx29 |
C |
T |
16: 11,265,317 (GRCm39) |
R516W |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,221,551 (GRCm39) |
S2763P |
probably damaging |
Het |
| Vmn1r42 |
T |
C |
6: 89,821,688 (GRCm39) |
M294V |
probably benign |
Het |
| Zfp467 |
C |
A |
6: 48,416,010 (GRCm39) |
R214L |
possibly damaging |
Het |
| Zfp750 |
C |
A |
11: 121,403,153 (GRCm39) |
A532S |
probably benign |
Het |
| Zscan4d |
G |
A |
7: 10,896,614 (GRCm39) |
P252L |
probably benign |
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 |
|
R0765:Dbn1
|
UTSW |
13 |
55,630,107 (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 |
|
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'- TGCAATACTGGGCTGGAGAG -3'
(R):5'- ACACTAGTTCTTGGGAAGATAGC -3'
Sequencing Primer
(F):5'- TGCCAGTCCATTGGAGAGC -3'
(R):5'- AGATAGCCTGGGCCCATAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation