Incidental Mutation 'R8339:Dbn1'
| ID |
644813 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dbn1
|
| Ensembl Gene |
ENSMUSG00000034675 |
| Gene Name |
drebrin 1 |
| Synonyms |
drebrin E2, drebrin A |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.841)
|
| Stock # |
R8339 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
55621242-55635924 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55629982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 153
(D153E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021950
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021950]
[ENSMUST00000109921]
[ENSMUST00000109923]
[ENSMUST00000139275]
|
| AlphaFold |
Q9QXS6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021950
AA Change: D153E
PolyPhen 2
Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000021950
Gene: ENSMUSG00000034675
AA Change: D153E
| 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: D153E
PolyPhen 2
Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105547
Gene: ENSMUSG00000034675
AA Change: D153E
| 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 |
possibly damaging
Transcript: ENSMUST00000109923
AA Change: D153E
PolyPhen 2
Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105549
Gene: ENSMUSG00000034675
AA Change: D153E
| 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 |
probably benign
Transcript: ENSMUST00000139275
AA Change: D90E
PolyPhen 2
Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000122574
Gene: ENSMUSG00000034675
AA Change: D90E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cofilin_ADF
|
1 |
71 |
9.1e-14 |
PFAM |
|
coiled coil region
|
113 |
169 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,324,831 (GRCm39) |
F1549S |
probably damaging |
Het |
| Ablim1 |
T |
C |
19: 57,032,281 (GRCm39) |
E710G |
probably benign |
Het |
| Adam34 |
A |
T |
8: 44,103,640 (GRCm39) |
H668Q |
probably benign |
Het |
| Asphd2 |
A |
T |
5: 112,539,501 (GRCm39) |
Y111N |
possibly damaging |
Het |
| Camsap1 |
A |
G |
2: 25,872,817 (GRCm39) |
I45T |
possibly damaging |
Het |
| Ccdc88c |
A |
T |
12: 100,907,399 (GRCm39) |
L984* |
probably null |
Het |
| Ccr1 |
T |
G |
9: 123,763,763 (GRCm39) |
N256H |
probably damaging |
Het |
| Cep295 |
A |
T |
9: 15,236,846 (GRCm39) |
D254E |
|
Het |
| Cfhr4 |
T |
A |
1: 139,660,157 (GRCm39) |
E656V |
probably damaging |
Het |
| Cmya5 |
G |
T |
13: 93,228,142 (GRCm39) |
Y2315* |
probably null |
Het |
| Cspp1 |
G |
T |
1: 10,183,892 (GRCm39) |
R839I |
probably damaging |
Het |
| Dnah7a |
G |
T |
1: 53,724,178 (GRCm39) |
L96I |
probably benign |
Het |
| G6pc1 |
A |
G |
11: 101,267,314 (GRCm39) |
T255A |
possibly damaging |
Het |
| Heatr5a |
AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA |
AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA |
12: 51,934,702 (GRCm39) |
|
probably benign |
Het |
| Il12a |
T |
A |
3: 68,599,438 (GRCm39) |
C33* |
probably null |
Het |
| Iqce |
T |
C |
5: 140,660,093 (GRCm39) |
E555G |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,214,396 (GRCm39) |
M1484V |
probably benign |
Het |
| Klc2 |
A |
G |
19: 5,159,562 (GRCm39) |
S518P |
probably benign |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or2b7 |
A |
T |
13: 21,739,996 (GRCm39) |
N65K |
probably damaging |
Het |
| Or8b47 |
T |
C |
9: 38,435,717 (GRCm39) |
S230P |
probably damaging |
Het |
| Or9g4b |
C |
A |
2: 85,615,876 (GRCm39) |
T7N |
probably damaging |
Het |
| Otogl |
T |
A |
10: 107,625,396 (GRCm39) |
I1516F |
probably damaging |
Het |
| Otogl |
G |
T |
10: 107,625,397 (GRCm39) |
S1515R |
probably benign |
Het |
| Pacs1 |
A |
T |
19: 5,192,651 (GRCm39) |
V627E |
probably damaging |
Het |
| Ptprb |
A |
C |
10: 116,119,356 (GRCm39) |
R163S |
probably benign |
Het |
| Ralgps2 |
G |
T |
1: 156,649,008 (GRCm39) |
P432Q |
probably null |
Het |
| Rgl3 |
T |
C |
9: 21,898,825 (GRCm39) |
T205A |
probably benign |
Het |
| Rock2 |
G |
T |
12: 17,024,861 (GRCm39) |
W1213L |
probably damaging |
Het |
| Satb1 |
T |
A |
17: 52,089,977 (GRCm39) |
H290L |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,116,373 (GRCm39) |
Y422C |
probably damaging |
Het |
| Sgcg |
T |
A |
14: 61,469,966 (GRCm39) |
M132L |
probably benign |
Het |
| Shank1 |
A |
G |
7: 43,975,589 (GRCm39) |
S478G |
unknown |
Het |
| Slc18a1 |
A |
T |
8: 69,518,273 (GRCm39) |
M247K |
possibly damaging |
Het |
| Slc37a4 |
A |
G |
9: 44,313,724 (GRCm39) |
I417V |
probably benign |
Het |
| Slc9b2 |
A |
G |
3: 135,030,363 (GRCm39) |
M227V |
possibly damaging |
Het |
| Tcf20 |
C |
A |
15: 82,736,877 (GRCm39) |
V1525L |
probably benign |
Het |
| Tril |
G |
A |
6: 53,794,918 (GRCm39) |
T768I |
possibly damaging |
Het |
| Xxylt1 |
T |
C |
16: 30,899,858 (GRCm39) |
H99R |
possibly damaging |
Het |
| Zfp653 |
T |
C |
9: 21,969,213 (GRCm39) |
E351G |
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 |
|
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 |
|
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 |
|
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'- CATCCGTCTTCTGGTAGGTG -3'
(R):5'- ACCTAGGGCCAGGTTTGTATG -3'
Sequencing Primer
(F):5'- TGGTACCCTGCAGAGTCAAGTG -3'
(R):5'- GCCAGGTTTGTATGCTGGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation