Incidental Mutation 'R0026:Dbn1'
| ID |
189187 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dbn1
|
| Ensembl Gene |
ENSMUSG00000034675 |
| Gene Name |
drebrin 1 |
| Synonyms |
drebrin E2, drebrin A |
| MMRRC Submission |
038321-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.856)
|
| Stock # |
R0026 (G1)
|
| Quality Score |
78 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
55621242-55635924 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55625597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 275
(E275G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021950]
[ENSMUST00000046533]
[ENSMUST00000109921]
[ENSMUST00000109923]
[ENSMUST00000139275]
|
| AlphaFold |
Q9QXS6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021950
AA Change: E275G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021950
Gene: ENSMUSG00000034675
AA Change: E275G
| 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 |
probably damaging
Transcript: ENSMUST00000109921
AA Change: E275G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105547
Gene: ENSMUSG00000034675
AA Change: E275G
| 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: E275G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105549
Gene: ENSMUSG00000034675
AA Change: E275G
| 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 |
noncoding transcript
Transcript: ENSMUST00000175813
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139516
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183653
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139275
|
| SMART Domains |
Protein: ENSMUSP00000122574
Gene: ENSMUSG00000034675
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cofilin_ADF
|
1 |
71 |
9.1e-14 |
PFAM |
|
coiled coil region
|
113 |
169 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0844 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.3%
|
| Validation Efficiency |
93% (70/75) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
A |
3: 137,772,566 (GRCm39) |
I585N |
possibly damaging |
Het |
| A830005F24Rik |
C |
T |
13: 48,667,848 (GRCm39) |
|
probably benign |
Het |
| Abca16 |
C |
T |
7: 120,077,146 (GRCm39) |
|
probably benign |
Het |
| Acot10 |
G |
A |
15: 20,666,322 (GRCm39) |
L140F |
probably benign |
Het |
| Adam19 |
G |
T |
11: 46,027,086 (GRCm39) |
C573F |
probably damaging |
Het |
| Aff3 |
A |
G |
1: 38,242,974 (GRCm39) |
S948P |
probably benign |
Het |
| Anxa3 |
T |
A |
5: 96,986,260 (GRCm39) |
Y300N |
probably benign |
Het |
| BC016579 |
T |
C |
16: 45,460,730 (GRCm39) |
T113A |
probably benign |
Het |
| Bmpr1b |
A |
G |
3: 141,576,494 (GRCm39) |
L113P |
probably benign |
Het |
| Casq1 |
T |
C |
1: 172,046,967 (GRCm39) |
|
probably benign |
Het |
| Cdc16 |
T |
A |
8: 13,809,130 (GRCm39) |
|
probably null |
Het |
| Cep135 |
C |
T |
5: 76,754,581 (GRCm39) |
R353* |
probably null |
Het |
| Cma1 |
A |
T |
14: 56,179,621 (GRCm39) |
C188S |
probably damaging |
Het |
| Csf3r |
A |
G |
4: 125,925,677 (GRCm39) |
T151A |
probably benign |
Het |
| Cyp4b1 |
C |
T |
4: 115,504,718 (GRCm39) |
G56D |
possibly damaging |
Het |
| Dlgap2 |
C |
T |
8: 14,777,363 (GRCm39) |
Q203* |
probably null |
Het |
| Ephb3 |
A |
G |
16: 21,033,667 (GRCm39) |
D251G |
probably damaging |
Het |
| Fancd2os |
G |
T |
6: 113,574,652 (GRCm39) |
T118N |
probably damaging |
Het |
| Gm10801 |
T |
C |
2: 98,494,254 (GRCm39) |
|
probably benign |
Het |
| Got1l1 |
C |
T |
8: 27,690,276 (GRCm39) |
V132I |
probably benign |
Het |
| H2-M9 |
T |
C |
17: 36,952,419 (GRCm39) |
|
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,572,356 (GRCm39) |
V1278A |
probably benign |
Het |
| Kctd3 |
T |
C |
1: 188,708,818 (GRCm39) |
T519A |
probably damaging |
Het |
| Lgsn |
T |
A |
1: 31,242,524 (GRCm39) |
V202D |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,006,053 (GRCm39) |
F381L |
possibly damaging |
Het |
| Map1s |
G |
A |
8: 71,367,282 (GRCm39) |
G729D |
probably damaging |
Het |
| Mlycd |
A |
G |
8: 120,137,174 (GRCm39) |
I465V |
probably benign |
Het |
| Mrgprb1 |
T |
C |
7: 48,096,952 (GRCm39) |
R108G |
possibly damaging |
Het |
| Mrgprx2 |
T |
A |
7: 48,131,771 (GRCm39) |
H106L |
possibly damaging |
Het |
| Ncor1 |
T |
C |
11: 62,329,255 (GRCm39) |
Y6C |
probably damaging |
Het |
| Nfkb1 |
T |
C |
3: 135,297,334 (GRCm39) |
D773G |
probably damaging |
Het |
| Nxnl1 |
A |
G |
8: 72,019,217 (GRCm39) |
S3P |
probably damaging |
Het |
| Or12d17 |
T |
A |
17: 37,777,694 (GRCm39) |
V199D |
probably damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,892 (GRCm39) |
V114I |
probably benign |
Het |
| Otud7a |
T |
C |
7: 63,385,549 (GRCm39) |
F338L |
probably benign |
Het |
| Pdcl3 |
T |
A |
1: 39,030,361 (GRCm39) |
L14Q |
probably damaging |
Het |
| Pla2g7 |
T |
A |
17: 43,905,821 (GRCm39) |
|
probably benign |
Het |
| Prpf31 |
T |
A |
7: 3,642,667 (GRCm39) |
N413K |
probably benign |
Het |
| Rapgef5 |
T |
C |
12: 117,652,896 (GRCm39) |
S307P |
probably benign |
Het |
| Relt |
C |
A |
7: 100,499,428 (GRCm39) |
E164* |
probably null |
Het |
| Rnf185 |
T |
C |
11: 3,376,617 (GRCm39) |
D86G |
probably damaging |
Het |
| Rrm2b |
T |
C |
15: 37,953,985 (GRCm39) |
E21G |
probably benign |
Het |
| Scn5a |
A |
G |
9: 119,351,632 (GRCm39) |
I783T |
probably damaging |
Het |
| Senp1 |
T |
C |
15: 97,974,549 (GRCm39) |
R88G |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,403,665 (GRCm39) |
|
probably benign |
Het |
| Slc35b1 |
T |
C |
11: 95,281,468 (GRCm39) |
S294P |
probably benign |
Het |
| Slc5a2 |
T |
A |
7: 127,869,225 (GRCm39) |
I335N |
probably damaging |
Het |
| Spata31e2 |
T |
A |
1: 26,722,450 (GRCm39) |
D910V |
probably benign |
Het |
| Sstr1 |
T |
A |
12: 58,259,644 (GRCm39) |
M89K |
probably damaging |
Het |
| Szt2 |
A |
T |
4: 118,241,969 (GRCm39) |
S1612R |
possibly damaging |
Het |
| Taf1c |
T |
C |
8: 120,330,975 (GRCm39) |
|
probably null |
Het |
| Taf1d |
T |
A |
9: 15,219,944 (GRCm39) |
S64R |
probably damaging |
Het |
| Tmem125 |
A |
G |
4: 118,399,270 (GRCm39) |
S54P |
possibly damaging |
Het |
| Ttf1 |
T |
A |
2: 28,961,361 (GRCm39) |
I583N |
possibly damaging |
Het |
| Uchl4 |
A |
T |
9: 64,142,653 (GRCm39) |
|
probably null |
Het |
| Unc5b |
A |
T |
10: 60,610,371 (GRCm39) |
I482N |
possibly damaging |
Het |
| Unc80 |
C |
A |
1: 66,560,743 (GRCm39) |
Q824K |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,601,940 (GRCm39) |
|
probably benign |
Het |
| Vmn2r61 |
T |
G |
7: 41,924,898 (GRCm39) |
I484R |
possibly damaging |
Het |
| Vps13b |
T |
C |
15: 35,923,447 (GRCm39) |
I3774T |
possibly damaging |
Het |
| Yipf1 |
T |
A |
4: 107,202,357 (GRCm39) |
L240* |
probably null |
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 |
|
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 |
|
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'- GTTCCTGCTGTCTGAAGAACTCCC -3'
(R):5'- GCCATATTCAGTCCGTGCTTGGTG -3'
Sequencing Primer
(F):5'- CGTGGGTTATCAGGCCG -3'
(R):5'- GATCCCAGATACCTGGTTAGATG -3'
|
| Posted On |
2014-05-13 |
Incidental Mutation