Incidental Mutation 'R4518:Dbn1'
ID |
334087 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dbn1
|
Ensembl Gene |
ENSMUSG00000034675 |
Gene Name |
drebrin 1 |
Synonyms |
drebrin E2, drebrin A |
MMRRC Submission |
041762-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.841)
|
Stock # |
R4518 (G1)
|
Quality Score |
203 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
55621242-55635924 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 55624042 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 350
(I350N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105549
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021950]
[ENSMUST00000046533]
[ENSMUST00000109921]
[ENSMUST00000109923]
|
AlphaFold |
Q9QXS6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021950
AA Change: I396N
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000021950 Gene: ENSMUSG00000034675 AA Change: I396N
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: ENSMUST00000046533
|
SMART Domains |
Protein: ENSMUSP00000046776 Gene: ENSMUSG00000034686
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
34 |
N/A |
INTRINSIC |
low complexity region
|
63 |
131 |
N/A |
INTRINSIC |
low complexity region
|
211 |
228 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109921
AA Change: I350N
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000105547 Gene: ENSMUSG00000034675 AA Change: I350N
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: I350N
PolyPhen 2
Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000105549 Gene: ENSMUSG00000034675 AA Change: I350N
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: ENSMUST00000135705
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183653
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
98% (60/61) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110082J24Rik |
T |
A |
5: 30,311,006 (GRCm39) |
|
probably null |
Het |
Abr |
A |
G |
11: 76,363,344 (GRCm39) |
S167P |
possibly damaging |
Het |
Adamtsl2 |
T |
C |
2: 26,985,559 (GRCm39) |
L481P |
probably benign |
Het |
Atp8b3 |
C |
T |
10: 80,359,681 (GRCm39) |
M984I |
probably benign |
Het |
Brip1 |
G |
A |
11: 85,968,704 (GRCm39) |
A827V |
possibly damaging |
Het |
Carns1 |
T |
G |
19: 4,220,069 (GRCm39) |
T389P |
probably benign |
Het |
Ccdc88a |
T |
C |
11: 29,432,651 (GRCm39) |
I1219T |
probably benign |
Het |
Cckar |
T |
C |
5: 53,857,264 (GRCm39) |
N311S |
probably damaging |
Het |
Cenpc1 |
A |
G |
5: 86,195,446 (GRCm39) |
S108P |
possibly damaging |
Het |
Chpf |
G |
T |
1: 75,451,689 (GRCm39) |
S588R |
probably damaging |
Het |
Clca3a2 |
T |
A |
3: 144,514,466 (GRCm39) |
T414S |
probably damaging |
Het |
Cntrl |
A |
G |
2: 35,038,986 (GRCm39) |
E1092G |
probably damaging |
Het |
Crb2 |
C |
A |
2: 37,680,401 (GRCm39) |
T443K |
probably damaging |
Het |
Crppa |
G |
A |
12: 36,523,179 (GRCm39) |
V203I |
possibly damaging |
Het |
Cwf19l1 |
A |
G |
19: 44,121,473 (GRCm39) |
V25A |
probably damaging |
Het |
Cyb561d1 |
T |
C |
3: 108,106,887 (GRCm39) |
I111V |
possibly damaging |
Het |
Dnajb4 |
T |
C |
3: 151,890,813 (GRCm39) |
I329V |
probably benign |
Het |
Dnmt1 |
G |
T |
9: 20,823,274 (GRCm39) |
D1055E |
probably benign |
Het |
Fam168a |
C |
T |
7: 100,483,247 (GRCm39) |
A176V |
probably damaging |
Het |
Farp2 |
A |
G |
1: 93,548,363 (GRCm39) |
E1016G |
probably benign |
Het |
Fibcd1 |
A |
T |
2: 31,707,207 (GRCm39) |
V350E |
probably damaging |
Het |
Galnt3 |
C |
A |
2: 65,923,954 (GRCm39) |
R438L |
probably damaging |
Het |
Golga4 |
T |
A |
9: 118,388,076 (GRCm39) |
S1733T |
probably benign |
Het |
Golgb1 |
G |
A |
16: 36,749,625 (GRCm39) |
E3076K |
probably damaging |
Het |
Grm7 |
A |
G |
6: 110,891,507 (GRCm39) |
|
probably null |
Het |
Hcn2 |
T |
C |
10: 79,560,536 (GRCm39) |
V289A |
probably benign |
Het |
Hipk1 |
G |
T |
3: 103,657,688 (GRCm39) |
H799N |
probably damaging |
Het |
Klf14 |
A |
G |
6: 30,934,867 (GRCm39) |
S256P |
possibly damaging |
Het |
Muc6 |
T |
A |
7: 141,230,489 (GRCm39) |
T1214S |
probably benign |
Het |
Nlrp2 |
T |
A |
7: 5,328,055 (GRCm39) |
D666V |
possibly damaging |
Het |
Ntng1 |
A |
G |
3: 109,842,329 (GRCm39) |
I148T |
probably damaging |
Het |
Or4k35 |
T |
C |
2: 111,100,263 (GRCm39) |
M150V |
probably benign |
Het |
Or7d9 |
A |
G |
9: 20,197,546 (GRCm39) |
I184V |
probably benign |
Het |
Or7g27 |
T |
A |
9: 19,250,556 (GRCm39) |
S267T |
possibly damaging |
Het |
Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
Pacs2 |
A |
G |
12: 113,024,289 (GRCm39) |
D360G |
probably benign |
Het |
Parp8 |
C |
A |
13: 117,032,209 (GRCm39) |
L321F |
possibly damaging |
Het |
Pdss2 |
T |
A |
10: 43,248,146 (GRCm39) |
S217T |
probably damaging |
Het |
Plekhn1 |
T |
C |
4: 156,309,988 (GRCm39) |
S109G |
probably damaging |
Het |
Prlr |
C |
A |
15: 10,329,085 (GRCm39) |
T520K |
possibly damaging |
Het |
Prokr2 |
T |
A |
2: 132,216,012 (GRCm39) |
|
probably null |
Het |
Rab3gap2 |
G |
A |
1: 184,999,265 (GRCm39) |
V991I |
probably benign |
Het |
Reln |
T |
C |
5: 22,106,741 (GRCm39) |
I3210V |
probably benign |
Het |
Rims2 |
T |
C |
15: 39,300,922 (GRCm39) |
Y218H |
probably damaging |
Het |
Slc41a1 |
T |
C |
1: 131,766,863 (GRCm39) |
V127A |
probably damaging |
Het |
St8sia6 |
T |
A |
2: 13,797,562 (GRCm39) |
|
probably null |
Het |
Tlr6 |
A |
G |
5: 65,112,247 (GRCm39) |
F220S |
possibly damaging |
Het |
Trmt1l |
C |
T |
1: 151,324,094 (GRCm39) |
Q314* |
probably null |
Het |
Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
Vnn3 |
G |
A |
10: 23,743,124 (GRCm39) |
V445M |
possibly damaging |
Het |
Ypel1 |
A |
T |
16: 16,913,905 (GRCm39) |
F173I |
possibly damaging |
Het |
Zfhx4 |
T |
C |
3: 5,477,578 (GRCm39) |
C3398R |
probably damaging |
Het |
Zfyve16 |
T |
C |
13: 92,657,820 (GRCm39) |
E697G |
possibly 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 |
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'- CACTTCCTTAGCAGTGTAGTGTTGG -3'
(R):5'- TTTGTCCCCAGAGCAGGTAC -3'
Sequencing Primer
(F):5'- GGATTGGTCCAAGTTCTTTGAAC -3'
(R):5'- TCTGGAGCAGCAATCTGGC -3'
|
Posted On |
2015-08-18 |