Incidental Mutation 'R2914:Dbn1'
| ID |
254815 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dbn1
|
| Ensembl Gene |
ENSMUSG00000034675 |
| Gene Name |
drebrin 1 |
| Synonyms |
drebrin E2, drebrin A |
| MMRRC Submission |
040501-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.841)
|
| Stock # |
R2914 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 95.5%
|
| Validation Efficiency |
100% (41/41) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
A |
G |
5: 30,401,992 (GRCm39) |
S679P |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cryl1 |
T |
C |
14: 57,513,375 (GRCm39) |
E282G |
probably benign |
Het |
| Dclre1b |
T |
C |
3: 103,715,430 (GRCm39) |
M105V |
probably damaging |
Het |
| Defb12 |
T |
C |
8: 19,164,830 (GRCm39) |
N3D |
probably benign |
Het |
| Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
| Fa2h |
T |
C |
8: 112,120,281 (GRCm39) |
D35G |
probably damaging |
Het |
| Fdxacb1 |
C |
T |
9: 50,679,699 (GRCm39) |
A39V |
probably benign |
Het |
| Fras1 |
G |
A |
5: 96,881,774 (GRCm39) |
R2502K |
probably benign |
Het |
| Grm1 |
A |
G |
10: 10,955,601 (GRCm39) |
S228P |
probably benign |
Het |
| Il27ra |
T |
A |
8: 84,758,242 (GRCm39) |
|
probably benign |
Het |
| Lrrtm1 |
A |
T |
6: 77,221,962 (GRCm39) |
Q473L |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,369,704 (GRCm39) |
I121F |
probably damaging |
Het |
| Mael |
A |
T |
1: 166,054,179 (GRCm39) |
F188I |
probably damaging |
Het |
| Mapk4 |
C |
T |
18: 74,068,236 (GRCm39) |
A232T |
probably benign |
Het |
| Mrpl9 |
C |
A |
3: 94,351,108 (GRCm39) |
T96K |
probably damaging |
Het |
| Musk |
C |
A |
4: 58,366,938 (GRCm39) |
L511I |
probably damaging |
Het |
| Mutyh |
G |
A |
4: 116,672,826 (GRCm39) |
D60N |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 125,954,274 (GRCm39) |
|
probably null |
Het |
| Nktr |
T |
C |
9: 121,578,670 (GRCm39) |
|
probably benign |
Het |
| Otud7b |
C |
A |
3: 96,063,272 (GRCm39) |
A837E |
probably benign |
Het |
| Pigb |
A |
T |
9: 72,947,060 (GRCm39) |
|
probably null |
Het |
| Pip4k2b |
G |
T |
11: 97,613,260 (GRCm39) |
N245K |
probably benign |
Het |
| Ptprd |
T |
A |
4: 75,865,338 (GRCm39) |
D1464V |
probably damaging |
Het |
| Rab22a |
A |
G |
2: 173,537,074 (GRCm39) |
N98S |
probably benign |
Het |
| Rictor |
G |
T |
15: 6,799,476 (GRCm39) |
|
probably null |
Het |
| Rims1 |
T |
C |
1: 22,844,711 (GRCm39) |
E32G |
probably damaging |
Het |
| Slx4ip |
A |
G |
2: 136,909,511 (GRCm39) |
|
probably null |
Het |
| Snx19 |
G |
A |
9: 30,344,828 (GRCm39) |
|
probably benign |
Het |
| Snx29 |
C |
T |
16: 11,265,317 (GRCm39) |
R516W |
probably damaging |
Het |
| Tcof1 |
T |
C |
18: 60,949,156 (GRCm39) |
D1253G |
possibly damaging |
Het |
| Tmod1 |
A |
T |
4: 46,092,259 (GRCm39) |
N203I |
probably damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,759,078 (GRCm39) |
N880S |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,599,979 (GRCm39) |
I19065N |
probably damaging |
Het |
| Txk |
T |
C |
5: 72,881,794 (GRCm39) |
N154S |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,590,337 (GRCm39) |
|
probably null |
Het |
| Vmn1r65 |
T |
A |
7: 6,012,040 (GRCm39) |
I65F |
possibly damaging |
Het |
| Yes1 |
T |
C |
5: 32,797,926 (GRCm39) |
S82P |
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 |
|
R2912: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'- CACTAGTTCTTGGGAAGATAGCC -3'
Sequencing Primer
(F):5'- TGCCAGTCCATTGGAGAGC -3'
(R):5'- AGATAGCCTGGGCCCATAG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation