Incidental Mutation 'R5093:Dnmbp'
| ID |
387973 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnmbp
|
| Ensembl Gene |
ENSMUSG00000025195 |
| Gene Name |
dynamin binding protein |
| Synonyms |
2410003L07Rik, 2410003M15Rik, Tuba |
| MMRRC Submission |
042682-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5093 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
43835260-43928630 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43838315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 1170
(N1170I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026209]
[ENSMUST00000212032]
[ENSMUST00000212048]
[ENSMUST00000212396]
[ENSMUST00000212592]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026209
AA Change: N1486I
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000026209
Gene: ENSMUSG00000025195
AA Change: N1486I
| 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 |
possibly damaging
Transcript: ENSMUST00000212032
AA Change: N1482I
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212048
AA Change: N1170I
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212396
AA Change: N1486I
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212592
AA Change: N729I
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.1411 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
99% (90/91) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
C |
T |
13: 119,610,573 (GRCm39) |
|
probably benign |
Het |
| Abca9 |
A |
T |
11: 110,032,358 (GRCm39) |
L753Q |
probably damaging |
Het |
| Acvrl1 |
A |
G |
15: 101,032,628 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
A |
T |
13: 81,740,704 (GRCm39) |
N141K |
probably damaging |
Het |
| Aftph |
C |
T |
11: 20,659,619 (GRCm39) |
|
probably null |
Het |
| Aifm1 |
C |
T |
X: 47,571,637 (GRCm39) |
G371S |
probably benign |
Het |
| Aldh3b2 |
A |
G |
19: 4,029,433 (GRCm39) |
M269V |
probably benign |
Het |
| Ankrd44 |
T |
C |
1: 54,802,877 (GRCm39) |
Y207C |
probably damaging |
Het |
| Arhgap15 |
G |
T |
2: 44,212,767 (GRCm39) |
M412I |
probably damaging |
Het |
| Auts2 |
A |
C |
5: 131,468,296 (GRCm39) |
L783R |
probably damaging |
Het |
| Baiap2l1 |
A |
T |
5: 144,215,363 (GRCm39) |
Y381N |
probably damaging |
Het |
| Baiap3 |
T |
C |
17: 25,469,243 (GRCm39) |
D180G |
probably damaging |
Het |
| Cant1 |
T |
C |
11: 118,302,038 (GRCm39) |
Y93C |
probably damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,416,423 (GRCm39) |
S330G |
probably benign |
Het |
| Ccdc73 |
A |
T |
2: 104,848,111 (GRCm39) |
|
probably benign |
Het |
| Cdc5l |
A |
T |
17: 45,703,967 (GRCm39) |
F752L |
possibly damaging |
Het |
| Celsr2 |
G |
T |
3: 108,320,689 (GRCm39) |
H708N |
possibly damaging |
Het |
| Cep170 |
T |
A |
1: 176,596,896 (GRCm39) |
K487M |
possibly damaging |
Het |
| Cerkl |
A |
T |
2: 79,163,867 (GRCm39) |
N66K |
probably damaging |
Het |
| Cilk1 |
G |
A |
9: 78,047,303 (GRCm39) |
V68I |
probably benign |
Het |
| Clec11a |
C |
T |
7: 43,954,150 (GRCm39) |
A268T |
probably damaging |
Het |
| Ctnna2 |
C |
A |
6: 77,091,912 (GRCm39) |
|
probably null |
Het |
| Diaph3 |
C |
A |
14: 87,222,236 (GRCm39) |
R416L |
probably damaging |
Het |
| Erbb2 |
G |
T |
11: 98,318,279 (GRCm39) |
C505F |
probably damaging |
Het |
| Ercc6 |
T |
A |
14: 32,289,479 (GRCm39) |
F904L |
probably damaging |
Het |
| Exo5 |
C |
T |
4: 120,779,514 (GRCm39) |
G117D |
probably damaging |
Het |
| F2 |
CAGAAAG |
CAG |
2: 91,465,302 (GRCm39) |
|
probably benign |
Het |
| Fbxl5 |
A |
G |
5: 43,930,896 (GRCm39) |
Y64H |
probably damaging |
Het |
| Gabra4 |
T |
A |
5: 71,798,207 (GRCm39) |
M207L |
probably damaging |
Het |
| Galnt15 |
T |
C |
14: 31,771,786 (GRCm39) |
L277P |
probably damaging |
Het |
| Gclm |
T |
C |
3: 122,049,261 (GRCm39) |
|
probably null |
Het |
| Gm5493 |
T |
A |
17: 22,966,201 (GRCm39) |
C29S |
possibly damaging |
Het |
| Grik3 |
A |
G |
4: 125,564,382 (GRCm39) |
T455A |
probably benign |
Het |
| Grm3 |
A |
G |
5: 9,639,766 (GRCm39) |
V93A |
probably benign |
Het |
| Hdgfl2 |
C |
T |
17: 56,406,217 (GRCm39) |
A535V |
possibly damaging |
Het |
| Hfm1 |
A |
T |
5: 107,049,597 (GRCm39) |
S455T |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,613,007 (GRCm39) |
D1424V |
probably benign |
Het |
| Hsd3b6 |
C |
T |
3: 98,715,120 (GRCm39) |
V91I |
probably benign |
Het |
| Igdcc4 |
G |
A |
9: 65,030,039 (GRCm39) |
S363N |
possibly damaging |
Het |
| Intu |
T |
C |
3: 40,647,347 (GRCm39) |
V740A |
probably benign |
Het |
| Itga2 |
C |
T |
13: 114,992,717 (GRCm39) |
V838I |
probably benign |
Het |
| Kif9 |
A |
G |
9: 110,318,965 (GRCm39) |
E143G |
probably damaging |
Het |
| Kmt2c |
T |
A |
5: 25,614,205 (GRCm39) |
I172F |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,754,043 (GRCm39) |
R21W |
probably damaging |
Het |
| Mdh1b |
A |
T |
1: 63,750,620 (GRCm39) |
D449E |
probably benign |
Het |
| Meis1 |
T |
C |
11: 18,831,785 (GRCm39) |
I418V |
probably benign |
Het |
| Nags |
T |
A |
11: 102,037,395 (GRCm39) |
M162K |
probably damaging |
Het |
| Nufip1 |
A |
G |
14: 76,348,413 (GRCm39) |
D14G |
probably benign |
Het |
| Or2l13 |
T |
A |
16: 19,306,227 (GRCm39) |
I213N |
probably damaging |
Het |
| Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
| Or7g28 |
T |
G |
9: 19,272,274 (GRCm39) |
I126L |
probably damaging |
Het |
| Osmr |
A |
C |
15: 6,850,560 (GRCm39) |
V681G |
probably damaging |
Het |
| Paxip1 |
G |
T |
5: 27,971,282 (GRCm39) |
Q356K |
unknown |
Het |
| Pcdhac1 |
T |
A |
18: 37,223,595 (GRCm39) |
F136Y |
probably damaging |
Het |
| Pla2g6 |
A |
G |
15: 79,171,328 (GRCm39) |
V699A |
probably benign |
Het |
| Plcb3 |
A |
T |
19: 6,943,578 (GRCm39) |
V107E |
probably damaging |
Het |
| Plch1 |
T |
A |
3: 63,681,136 (GRCm39) |
I164F |
probably damaging |
Het |
| Plpp3 |
A |
T |
4: 105,052,077 (GRCm39) |
I73F |
probably damaging |
Het |
| Plscr5 |
G |
A |
9: 92,080,574 (GRCm39) |
R20Q |
probably benign |
Het |
| Prdm10 |
G |
A |
9: 31,252,779 (GRCm39) |
R504Q |
probably damaging |
Het |
| Prss58 |
T |
C |
6: 40,874,751 (GRCm39) |
Y30C |
probably damaging |
Het |
| Psg19 |
T |
A |
7: 18,530,894 (GRCm39) |
T87S |
probably benign |
Het |
| Ptpn22 |
T |
G |
3: 103,789,418 (GRCm39) |
M294R |
probably benign |
Het |
| Rai1 |
T |
A |
11: 60,079,482 (GRCm39) |
M1182K |
probably benign |
Het |
| Sez6 |
T |
A |
11: 77,867,388 (GRCm39) |
V795D |
possibly damaging |
Het |
| Shcbp1 |
A |
G |
8: 4,789,214 (GRCm39) |
V535A |
possibly damaging |
Het |
| Skint9 |
A |
G |
4: 112,246,447 (GRCm39) |
Y222H |
probably benign |
Het |
| Slc13a3 |
T |
A |
2: 165,253,816 (GRCm39) |
I446F |
probably damaging |
Het |
| Slc2a3 |
C |
T |
6: 122,714,196 (GRCm39) |
R57H |
probably damaging |
Het |
| Slc44a4 |
A |
G |
17: 35,140,219 (GRCm39) |
D208G |
probably benign |
Het |
| Spata31d1b |
A |
T |
13: 59,863,838 (GRCm39) |
N329Y |
possibly damaging |
Het |
| Strbp |
C |
T |
2: 37,517,499 (GRCm39) |
R192K |
probably damaging |
Het |
| Tctn3 |
A |
T |
19: 40,600,548 (GRCm39) |
L14Q |
probably damaging |
Het |
| Tenm2 |
T |
A |
11: 36,834,989 (GRCm39) |
D2V |
probably damaging |
Het |
| Tln2 |
T |
G |
9: 67,241,596 (GRCm39) |
K1003T |
probably benign |
Het |
| Tmem63b |
T |
C |
17: 45,971,800 (GRCm39) |
E805G |
probably damaging |
Het |
| Trhr |
A |
T |
15: 44,060,980 (GRCm39) |
N167Y |
probably damaging |
Het |
| Trpc2 |
A |
G |
7: 101,744,390 (GRCm39) |
R721G |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,701,267 (GRCm39) |
|
probably benign |
Het |
| Wdr91 |
A |
G |
6: 34,869,288 (GRCm39) |
I412T |
probably damaging |
Het |
| Zcchc4 |
T |
A |
5: 52,953,952 (GRCm39) |
S211T |
probably benign |
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 |
|
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 |
|
R8696:Dnmbp
|
UTSW |
19 |
43,862,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AGAACTGAGTTTGCAGGCCC -3'
(R):5'- ATCTCCACTGAAGGACTGTGC -3'
Sequencing Primer
(F):5'- GGCCCTGCCTGGTCCTC -3'
(R):5'- AAACTCTCGCTGTGTCCTGGAAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation