Incidental Mutation 'R8696:Dnmbp'
| ID |
668745 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnmbp
|
| Ensembl Gene |
ENSMUSG00000025195 |
| Gene Name |
dynamin binding protein |
| Synonyms |
2410003L07Rik, 2410003M15Rik, Tuba |
| MMRRC Submission |
068550-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8696 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
43835260-43928630 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43862662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 76
(N76I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148421
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026209]
[ENSMUST00000212032]
[ENSMUST00000212048]
[ENSMUST00000212396]
[ENSMUST00000212592]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026209
AA Change: N829I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026209
Gene: ENSMUSG00000025195
AA Change: N829I
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
5 |
60 |
6.75e-14 |
SMART |
|
SH3
|
69 |
126 |
3.33e-4 |
SMART |
|
SH3
|
149 |
204 |
6.85e-15 |
SMART |
|
SH3
|
247 |
302 |
8.43e-15 |
SMART |
|
low complexity region
|
601 |
619 |
N/A |
INTRINSIC |
|
low complexity region
|
636 |
652 |
N/A |
INTRINSIC |
|
coiled coil region
|
694 |
755 |
N/A |
INTRINSIC |
|
low complexity region
|
756 |
764 |
N/A |
INTRINSIC |
|
RhoGEF
|
787 |
969 |
4.84e-39 |
SMART |
|
BAR
|
999 |
1213 |
6.21e-55 |
SMART |
|
SH3
|
1291 |
1350 |
4.62e-1 |
SMART |
|
low complexity region
|
1354 |
1374 |
N/A |
INTRINSIC |
|
SH3
|
1519 |
1578 |
1.08e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212032
AA Change: N829I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212048
AA Change: N517I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212396
AA Change: N829I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212592
AA Change: N76I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the DBL family of guanine nucleotide exchange factors. The encoded protein has been proposed to regulate the actin cytoskeleton by specifically activating the Rho-family GTPase Cdc42. An interaction between the encoded protein and a Listeria protein has been shown to mediate Listeria infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
T |
C |
15: 64,687,235 (GRCm39) |
N423S |
probably benign |
Het |
| Adgrl4 |
T |
C |
3: 151,248,344 (GRCm39) |
L672P |
probably damaging |
Het |
| Akr1b10 |
C |
T |
6: 34,369,067 (GRCm39) |
T182I |
possibly damaging |
Het |
| Ankrd33 |
A |
G |
15: 101,014,864 (GRCm39) |
I84V |
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,159,799 (GRCm39) |
Y272C |
possibly damaging |
Het |
| Arid4a |
T |
C |
12: 71,110,090 (GRCm39) |
S144P |
probably damaging |
Het |
| Bicd1 |
A |
G |
6: 149,415,285 (GRCm39) |
D666G |
probably damaging |
Het |
| Blk |
A |
T |
14: 63,618,149 (GRCm39) |
|
probably benign |
Het |
| Btbd2 |
C |
T |
10: 80,480,515 (GRCm39) |
R366Q |
possibly damaging |
Het |
| Cacna1i |
T |
C |
15: 80,266,175 (GRCm39) |
V1554A |
probably damaging |
Het |
| Camsap3 |
T |
C |
8: 3,653,614 (GRCm39) |
L428P |
probably damaging |
Het |
| Ccdc30 |
T |
G |
4: 119,234,505 (GRCm39) |
Y69S |
possibly damaging |
Het |
| Ccdc7a |
T |
A |
8: 129,715,244 (GRCm39) |
E280V |
probably damaging |
Het |
| Cdk11b |
T |
C |
4: 155,732,779 (GRCm39) |
V539A |
unknown |
Het |
| Ceacam3 |
A |
T |
7: 16,893,937 (GRCm39) |
N483Y |
|
Het |
| Cenpf |
C |
T |
1: 189,390,194 (GRCm39) |
A1213T |
probably benign |
Het |
| Chrna6 |
G |
T |
8: 27,897,195 (GRCm39) |
Y227* |
probably null |
Het |
| Cntnap5c |
A |
T |
17: 58,601,294 (GRCm39) |
D814V |
probably damaging |
Het |
| Csl |
A |
T |
10: 99,594,826 (GRCm39) |
Y80N |
probably damaging |
Het |
| Ctsm |
A |
G |
13: 61,685,521 (GRCm39) |
L297P |
probably damaging |
Het |
| Cyp4a31 |
G |
A |
4: 115,422,225 (GRCm39) |
E70K |
probably benign |
Het |
| Dhx8 |
T |
C |
11: 101,623,958 (GRCm39) |
V31A |
unknown |
Het |
| Dis3l2 |
G |
T |
1: 86,719,162 (GRCm39) |
G131* |
probably null |
Het |
| Dkk1 |
G |
A |
19: 30,526,688 (GRCm39) |
A31V |
probably damaging |
Het |
| Dlx3 |
C |
T |
11: 95,012,596 (GRCm39) |
R130* |
probably null |
Het |
| Dnajc24 |
T |
C |
2: 105,832,315 (GRCm39) |
M23V |
probably benign |
Het |
| Ezh1 |
T |
C |
11: 101,100,305 (GRCm39) |
N226S |
probably benign |
Het |
| Fabp9 |
C |
T |
3: 10,259,047 (GRCm39) |
V120M |
possibly damaging |
Het |
| Fcrlb |
A |
G |
1: 170,739,648 (GRCm39) |
C85R |
probably damaging |
Het |
| Gnai2 |
A |
C |
9: 107,496,968 (GRCm39) |
L131R |
|
Het |
| Gprin1 |
A |
G |
13: 54,885,764 (GRCm39) |
W837R |
probably damaging |
Het |
| Grm3 |
C |
T |
5: 9,562,311 (GRCm39) |
C513Y |
probably damaging |
Het |
| H60c |
T |
A |
10: 3,210,265 (GRCm39) |
I95F |
possibly damaging |
Het |
| Hecw1 |
A |
G |
13: 14,531,743 (GRCm39) |
V177A |
possibly damaging |
Het |
| Herc6 |
T |
A |
6: 57,624,134 (GRCm39) |
C635S |
probably benign |
Het |
| Itga4 |
A |
T |
2: 79,112,125 (GRCm39) |
M347L |
probably benign |
Het |
| Kif20b |
A |
G |
19: 34,914,752 (GRCm39) |
H436R |
probably benign |
Het |
| Klrg2 |
G |
T |
6: 38,613,430 (GRCm39) |
P191Q |
possibly damaging |
Het |
| Krt5 |
A |
G |
15: 101,618,742 (GRCm39) |
Y340H |
probably damaging |
Het |
| Map9 |
T |
A |
3: 82,270,668 (GRCm39) |
H77Q |
possibly damaging |
Het |
| Mfsd13a |
A |
G |
19: 46,356,557 (GRCm39) |
T221A |
probably benign |
Het |
| Myo10 |
C |
G |
15: 25,799,572 (GRCm39) |
H1378Q |
probably damaging |
Het |
| Nkx6-1 |
T |
C |
5: 101,807,513 (GRCm39) |
T290A |
possibly damaging |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Notch1 |
T |
A |
2: 26,368,004 (GRCm39) |
|
probably benign |
Het |
| Nr1d2 |
A |
T |
14: 18,216,661 (GRCm38) |
M169K |
probably damaging |
Het |
| Or10ak8 |
C |
T |
4: 118,774,635 (GRCm39) |
V10I |
probably benign |
Het |
| Or11g1 |
A |
G |
14: 50,651,420 (GRCm39) |
M140V |
possibly damaging |
Het |
| Or13c7c |
A |
G |
4: 43,836,193 (GRCm39) |
V99A |
probably benign |
Het |
| Or6c69b |
A |
T |
10: 129,626,562 (GRCm39) |
F299I |
possibly damaging |
Het |
| Or8b41 |
A |
G |
9: 38,054,433 (GRCm39) |
M1V |
probably null |
Het |
| Pdia6 |
T |
A |
12: 17,329,662 (GRCm39) |
I266K |
probably damaging |
Het |
| Phactr4 |
T |
C |
4: 132,091,105 (GRCm39) |
|
probably null |
Het |
| Polr1b |
T |
A |
2: 128,967,571 (GRCm39) |
L988Q |
probably damaging |
Het |
| Por |
A |
T |
5: 135,763,112 (GRCm39) |
M541L |
probably benign |
Het |
| Ppid |
T |
C |
3: 79,498,689 (GRCm39) |
|
probably benign |
Het |
| Prp2 |
A |
T |
6: 132,577,322 (GRCm39) |
Q203L |
unknown |
Het |
| Psme4 |
T |
G |
11: 30,759,896 (GRCm39) |
F340V |
probably damaging |
Het |
| Ptges2 |
T |
C |
2: 32,290,077 (GRCm39) |
S164P |
probably damaging |
Het |
| Rab18 |
G |
A |
18: 6,788,635 (GRCm39) |
G201S |
probably damaging |
Het |
| Rbm19 |
A |
G |
5: 120,265,132 (GRCm39) |
E391G |
probably damaging |
Het |
| Rcbtb2 |
T |
G |
14: 73,404,305 (GRCm39) |
V259G |
probably damaging |
Het |
| Rpn1 |
C |
A |
6: 88,080,359 (GRCm39) |
Q553K |
possibly damaging |
Het |
| Sash1 |
A |
G |
10: 8,609,459 (GRCm39) |
S697P |
probably damaging |
Het |
| Sdad1 |
T |
G |
5: 92,437,645 (GRCm39) |
H603P |
probably damaging |
Het |
| Serpini1 |
T |
C |
3: 75,520,544 (GRCm39) |
L47P |
probably damaging |
Het |
| Sorbs2 |
T |
A |
8: 46,248,686 (GRCm39) |
S646T |
possibly damaging |
Het |
| Spdye4a |
T |
A |
5: 143,210,754 (GRCm39) |
E105D |
probably benign |
Het |
| Srsf12 |
G |
A |
4: 33,231,181 (GRCm39) |
C230Y |
possibly damaging |
Het |
| Stard9 |
A |
T |
2: 120,531,595 (GRCm39) |
R2617S |
probably benign |
Het |
| Tas2r118 |
G |
T |
6: 23,969,344 (GRCm39) |
T239K |
probably damaging |
Het |
| Tlr1 |
A |
G |
5: 65,084,094 (GRCm39) |
L161P |
probably benign |
Het |
| Ttc21a |
T |
G |
9: 119,772,977 (GRCm39) |
V218G |
possibly damaging |
Het |
| Ttc6 |
T |
C |
12: 57,784,492 (GRCm39) |
S1854P |
probably benign |
Het |
| Unc93a |
A |
G |
17: 13,341,852 (GRCm39) |
L93P |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,839,217 (GRCm39) |
I2109N |
probably benign |
Het |
| Vmn1r225 |
A |
T |
17: 20,723,419 (GRCm39) |
S287C |
probably damaging |
Het |
| Vmn1r43 |
A |
G |
6: 89,847,321 (GRCm39) |
F55S |
probably damaging |
Het |
| Zfp772 |
T |
C |
7: 7,208,518 (GRCm39) |
T109A |
possibly damaging |
Het |
| Zfp87 |
A |
G |
13: 74,520,599 (GRCm39) |
Y160H |
probably damaging |
Het |
|
| Other mutations in Dnmbp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00477:Dnmbp
|
APN |
19 |
43,890,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01301:Dnmbp
|
APN |
19 |
43,890,793 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01443:Dnmbp
|
APN |
19 |
43,891,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01569:Dnmbp
|
APN |
19 |
43,863,295 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01818:Dnmbp
|
APN |
19 |
43,889,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01989:Dnmbp
|
APN |
19 |
43,855,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02111:Dnmbp
|
APN |
19 |
43,855,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02666:Dnmbp
|
APN |
19 |
43,842,566 (GRCm39) |
splice site |
probably benign |
|
|
IGL02736:Dnmbp
|
APN |
19 |
43,838,209 (GRCm39) |
splice site |
probably benign |
|
|
ANU18:Dnmbp
|
UTSW |
19 |
43,890,793 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0013:Dnmbp
|
UTSW |
19 |
43,890,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0013:Dnmbp
|
UTSW |
19 |
43,890,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0032:Dnmbp
|
UTSW |
19 |
43,891,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0032:Dnmbp
|
UTSW |
19 |
43,891,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0101:Dnmbp
|
UTSW |
19 |
43,862,599 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0129:Dnmbp
|
UTSW |
19 |
43,838,466 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0288:Dnmbp
|
UTSW |
19 |
43,890,898 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0322:Dnmbp
|
UTSW |
19 |
43,843,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0426:Dnmbp
|
UTSW |
19 |
43,840,875 (GRCm39) |
splice site |
probably benign |
|
|
R0432:Dnmbp
|
UTSW |
19 |
43,843,296 (GRCm39) |
nonsense |
probably null |
|
|
R0497:Dnmbp
|
UTSW |
19 |
43,845,079 (GRCm39) |
splice site |
probably benign |
|
|
R1306:Dnmbp
|
UTSW |
19 |
43,890,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1765:Dnmbp
|
UTSW |
19 |
43,890,579 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1800:Dnmbp
|
UTSW |
19 |
43,890,159 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1846:Dnmbp
|
UTSW |
19 |
43,891,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1916:Dnmbp
|
UTSW |
19 |
43,890,007 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2001:Dnmbp
|
UTSW |
19 |
43,838,612 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2131:Dnmbp
|
UTSW |
19 |
43,842,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2156:Dnmbp
|
UTSW |
19 |
43,890,346 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2238:Dnmbp
|
UTSW |
19 |
43,857,303 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2372:Dnmbp
|
UTSW |
19 |
43,890,759 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4817:Dnmbp
|
UTSW |
19 |
43,838,411 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5093:Dnmbp
|
UTSW |
19 |
43,838,315 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5249:Dnmbp
|
UTSW |
19 |
43,890,879 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5970:Dnmbp
|
UTSW |
19 |
43,842,610 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6168:Dnmbp
|
UTSW |
19 |
43,838,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6189:Dnmbp
|
UTSW |
19 |
43,889,950 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6189:Dnmbp
|
UTSW |
19 |
43,878,748 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6239:Dnmbp
|
UTSW |
19 |
43,836,624 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6256:Dnmbp
|
UTSW |
19 |
43,840,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6461:Dnmbp
|
UTSW |
19 |
43,855,964 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6599:Dnmbp
|
UTSW |
19 |
43,845,025 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6704:Dnmbp
|
UTSW |
19 |
43,889,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7350:Dnmbp
|
UTSW |
19 |
43,889,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7355:Dnmbp
|
UTSW |
19 |
43,890,180 (GRCm39) |
missense |
probably benign |
|
|
R7409:Dnmbp
|
UTSW |
19 |
43,878,996 (GRCm39) |
missense |
unknown |
|
|
R7548:Dnmbp
|
UTSW |
19 |
43,877,838 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7755:Dnmbp
|
UTSW |
19 |
43,838,525 (GRCm39) |
missense |
probably benign |
|
|
R7814:Dnmbp
|
UTSW |
19 |
43,842,615 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7954:Dnmbp
|
UTSW |
19 |
43,890,742 (GRCm39) |
missense |
probably benign |
|
|
R7955:Dnmbp
|
UTSW |
19 |
43,890,762 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8282:Dnmbp
|
UTSW |
19 |
43,879,005 (GRCm39) |
missense |
unknown |
|
|
R8385:Dnmbp
|
UTSW |
19 |
43,878,090 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8738:Dnmbp
|
UTSW |
19 |
43,900,677 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8819:Dnmbp
|
UTSW |
19 |
43,889,854 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8824:Dnmbp
|
UTSW |
19 |
43,838,276 (GRCm39) |
missense |
probably benign |
|
|
R8902:Dnmbp
|
UTSW |
19 |
43,890,225 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8906:Dnmbp
|
UTSW |
19 |
43,878,681 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8977:Dnmbp
|
UTSW |
19 |
43,840,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9628:Dnmbp
|
UTSW |
19 |
43,858,646 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9635:Dnmbp
|
UTSW |
19 |
43,855,974 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9771:Dnmbp
|
UTSW |
19 |
43,855,031 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1088:Dnmbp
|
UTSW |
19 |
43,890,561 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Dnmbp
|
UTSW |
19 |
43,863,423 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Dnmbp
|
UTSW |
19 |
43,877,806 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1176:Dnmbp
|
UTSW |
19 |
43,855,127 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACATCAAAGCTGACTGAGG -3'
(R):5'- GGAGCCAGACTACAACTTAGGG -3'
Sequencing Primer
(F):5'- CATCAAAGCTGACTGAGGTAAAAG -3'
(R):5'- AAGGATGACACTAGAGATGGTTCTG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation