Incidental Mutation 'R4398:Dbn1'
| ID |
325600 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dbn1
|
| Ensembl Gene |
ENSMUSG00000034675 |
| Gene Name |
drebrin 1 |
| Synonyms |
drebrin E2, drebrin A |
| MMRRC Submission |
041130-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.841)
|
| Stock # |
R4398 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
55621242-55635924 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55623194 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 430
(T430A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105549
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021950]
[ENSMUST00000046533]
[ENSMUST00000109921]
[ENSMUST00000109923]
|
| AlphaFold |
Q9QXS6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021950
AA Change: T476A
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000021950
Gene: ENSMUSG00000034675
AA Change: T476A
| 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 benign
Transcript: ENSMUST00000109921
AA Change: T430A
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000105547
Gene: ENSMUSG00000034675
AA Change: T430A
| 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: T430A
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000105549
Gene: ENSMUSG00000034675
AA Change: T430A
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
96% (53/55) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
C |
A |
15: 94,231,576 (GRCm39) |
R871L |
possibly damaging |
Het |
| Adcy5 |
G |
A |
16: 35,089,363 (GRCm39) |
C520Y |
probably damaging |
Het |
| AI661453 |
G |
A |
17: 47,779,042 (GRCm39) |
|
probably benign |
Het |
| Bptf |
T |
C |
11: 107,001,670 (GRCm39) |
K481E |
probably damaging |
Het |
| Cnot10 |
T |
A |
9: 114,460,949 (GRCm39) |
K74* |
probably null |
Het |
| Ctc1 |
C |
T |
11: 68,913,697 (GRCm39) |
P200S |
probably damaging |
Het |
| Dact1 |
T |
C |
12: 71,363,959 (GRCm39) |
Y210H |
probably damaging |
Het |
| Dmd |
A |
C |
X: 82,765,624 (GRCm39) |
T657P |
probably benign |
Het |
| Efnb2 |
C |
T |
8: 8,670,832 (GRCm39) |
R256H |
possibly damaging |
Het |
| Eif4a1 |
T |
C |
11: 69,560,070 (GRCm39) |
I116M |
possibly damaging |
Het |
| F730035P03Rik |
A |
T |
7: 99,429,475 (GRCm39) |
|
noncoding transcript |
Het |
| Fbn1 |
C |
T |
2: 125,239,701 (GRCm39) |
V329I |
probably benign |
Het |
| Gpr20 |
G |
A |
15: 73,568,125 (GRCm39) |
T88I |
probably benign |
Het |
| Herc1 |
T |
G |
9: 66,386,735 (GRCm39) |
V3783G |
probably benign |
Het |
| Khdc1a |
A |
G |
1: 21,420,617 (GRCm39) |
D79G |
possibly damaging |
Het |
| Klk1b16 |
A |
T |
7: 43,790,851 (GRCm39) |
I218F |
probably damaging |
Het |
| Malrd1 |
C |
T |
2: 16,155,594 (GRCm39) |
T2001I |
unknown |
Het |
| Mia3 |
A |
G |
1: 183,111,733 (GRCm39) |
S556P |
probably damaging |
Het |
| Myo3a |
T |
A |
2: 22,467,854 (GRCm39) |
D369E |
probably benign |
Het |
| Nelfa |
T |
C |
5: 34,058,623 (GRCm39) |
D279G |
possibly damaging |
Het |
| Ntrk3 |
A |
T |
7: 77,900,517 (GRCm39) |
C607* |
probably null |
Het |
| Or13a20 |
T |
C |
7: 140,232,741 (GRCm39) |
V283A |
possibly damaging |
Het |
| Pclo |
A |
T |
5: 14,825,380 (GRCm39) |
Q1371L |
probably damaging |
Het |
| Pdzd2 |
A |
T |
15: 12,376,061 (GRCm39) |
V1358E |
probably benign |
Het |
| Pgr |
T |
C |
9: 8,903,750 (GRCm39) |
|
probably null |
Het |
| Prag1 |
A |
G |
8: 36,570,809 (GRCm39) |
D464G |
probably damaging |
Het |
| Prickle4 |
A |
G |
17: 48,001,456 (GRCm39) |
|
probably benign |
Het |
| Prim2 |
A |
G |
1: 33,551,192 (GRCm39) |
Y309H |
probably damaging |
Het |
| Prkaa1 |
A |
G |
15: 5,206,642 (GRCm39) |
Q464R |
possibly damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rint1 |
T |
A |
5: 23,999,445 (GRCm39) |
I78K |
possibly damaging |
Het |
| Rnf130 |
T |
A |
11: 49,962,205 (GRCm39) |
F217Y |
probably benign |
Het |
| Smad7 |
T |
C |
18: 75,527,234 (GRCm39) |
V360A |
probably damaging |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Stag1 |
A |
G |
9: 100,838,659 (GRCm39) |
|
probably benign |
Het |
| Tlr12 |
T |
A |
4: 128,509,988 (GRCm39) |
D754V |
probably benign |
Het |
| Tmf1 |
G |
A |
6: 97,155,857 (GRCm39) |
P43L |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,027,630 (GRCm39) |
N873S |
probably benign |
Het |
| Tsn |
C |
T |
1: 118,238,799 (GRCm39) |
|
probably benign |
Het |
| Ubn1 |
A |
G |
16: 4,882,289 (GRCm39) |
K250R |
probably damaging |
Het |
| Vmn1r25 |
A |
T |
6: 57,955,812 (GRCm39) |
V159D |
probably damaging |
Het |
| Vmn2r89 |
T |
C |
14: 51,689,551 (GRCm39) |
L18P |
probably damaging |
Het |
| Vps8 |
T |
G |
16: 21,323,216 (GRCm39) |
N689K |
probably damaging |
Het |
| Ythdc1 |
T |
A |
5: 86,963,513 (GRCm39) |
D30E |
possibly damaging |
Het |
| Ythdc1 |
G |
T |
5: 86,983,679 (GRCm39) |
|
probably benign |
Het |
| Zfp407 |
G |
A |
18: 84,580,856 (GRCm39) |
Q86* |
probably null |
Het |
| Zfp521 |
C |
T |
18: 13,979,601 (GRCm39) |
E271K |
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 |
|
R2914:Dbn1
|
UTSW |
13 |
55,630,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- ATAGATCAATGAGGCTGGCAGC -3'
(R):5'- CTTCAGTGGGTGGACATGGTAC -3'
Sequencing Primer
(F):5'- CGGCAGGGGTGACGTTG -3'
(R):5'- AGGGCATCTATCCTTCCCCAAG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation