Incidental Mutation 'R7955:Dnmbp'
| ID |
649791 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnmbp
|
| Ensembl Gene |
ENSMUSG00000025195 |
| Gene Name |
dynamin binding protein |
| Synonyms |
2410003M15Rik, 2410003L07Rik, Tuba |
| MMRRC Submission |
045999-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7955 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
43846821-43940191 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43902323 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 335
(E335G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026209]
[ENSMUST00000212032]
[ENSMUST00000212396]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026209
AA Change: E335G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000026209
Gene: ENSMUSG00000025195
AA Change: E335G
| 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 benign
Transcript: ENSMUST00000212032
AA Change: E335G
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212396
AA Change: E335G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (43/43) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts10 |
T |
A |
17: 33,545,639 (GRCm38) |
V711D |
probably damaging |
Het |
| Adgrg5 |
G |
A |
8: 94,937,697 (GRCm38) |
V312M |
|
Het |
| Ankrd53 |
A |
G |
6: 83,767,863 (GRCm38) |
T352A |
probably benign |
Het |
| Ano4 |
T |
A |
10: 88,995,226 (GRCm38) |
M512L |
probably null |
Het |
| AW551984 |
A |
G |
9: 39,596,664 (GRCm38) |
F392S |
probably damaging |
Het |
| Chrna7 |
T |
G |
7: 63,103,793 (GRCm38) |
K326T |
possibly damaging |
Het |
| Cldnd2 |
G |
T |
7: 43,441,696 (GRCm38) |
L17F |
possibly damaging |
Het |
| Clvs2 |
T |
C |
10: 33,595,812 (GRCm38) |
N166D |
possibly damaging |
Het |
| Cox10 |
A |
T |
11: 63,993,924 (GRCm38) |
N218K |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,805,332 (GRCm38) |
R175H |
probably damaging |
Het |
| Daxx |
T |
A |
17: 33,912,255 (GRCm38) |
Y385* |
probably null |
Het |
| Erich3 |
C |
T |
3: 154,739,314 (GRCm38) |
Q376* |
probably null |
Het |
| Flot2 |
A |
G |
11: 78,058,943 (GRCm38) |
|
probably null |
Het |
| Ganc |
A |
G |
2: 120,430,700 (GRCm38) |
T289A |
probably damaging |
Het |
| Gm19668 |
G |
A |
10: 77,798,796 (GRCm38) |
T113I |
unknown |
Het |
| Gpm6a |
A |
G |
8: 55,058,805 (GRCm38) |
N238S |
probably damaging |
Het |
| Hps1 |
T |
C |
19: 42,770,782 (GRCm38) |
T124A |
probably damaging |
Het |
| Larp4b |
T |
C |
13: 9,136,780 (GRCm38) |
V48A |
probably benign |
Het |
| Magi2 |
A |
G |
5: 20,389,072 (GRCm38) |
H205R |
probably damaging |
Het |
| Map2 |
T |
A |
1: 66,413,716 (GRCm38) |
S588R |
probably damaging |
Het |
| Mocos |
A |
G |
18: 24,666,159 (GRCm38) |
D150G |
probably damaging |
Het |
| Msl2 |
A |
G |
9: 101,102,155 (GRCm38) |
D576G |
possibly damaging |
Het |
| Mybpc3 |
A |
G |
2: 91,126,056 (GRCm38) |
|
probably null |
Het |
| Myo3b |
A |
T |
2: 70,095,279 (GRCm38) |
Y58F |
probably benign |
Het |
| Ndst3 |
T |
G |
3: 123,606,937 (GRCm38) |
K440T |
probably benign |
Het |
| Ndst4 |
T |
A |
3: 125,438,182 (GRCm38) |
Y133* |
probably null |
Het |
| Nrcam |
G |
A |
12: 44,584,954 (GRCm38) |
V1097M |
probably benign |
Het |
| Olfr1348 |
A |
G |
7: 6,502,079 (GRCm38) |
I49T |
possibly damaging |
Het |
| Rabep1 |
A |
G |
11: 70,917,441 (GRCm38) |
T408A |
probably damaging |
Het |
| Rims1 |
A |
T |
1: 22,468,241 (GRCm38) |
D609E |
probably damaging |
Het |
| Sh2d4a |
A |
G |
8: 68,329,255 (GRCm38) |
K172E |
probably benign |
Het |
| Slc12a9 |
A |
C |
5: 137,325,546 (GRCm38) |
L369R |
probably damaging |
Het |
| Slc30a1 |
T |
C |
1: 191,907,283 (GRCm38) |
C93R |
probably damaging |
Het |
| Tex35 |
C |
T |
1: 157,100,172 (GRCm38) |
D143N |
probably damaging |
Het |
| Tgm3 |
A |
T |
2: 130,038,480 (GRCm38) |
Y402F |
probably benign |
Het |
| Tmem17 |
T |
A |
11: 22,518,490 (GRCm38) |
I143K |
possibly damaging |
Het |
| Tmprss11f |
A |
C |
5: 86,544,823 (GRCm38) |
S81A |
probably benign |
Het |
| Trp53bp1 |
G |
A |
2: 121,235,744 (GRCm38) |
P834S |
possibly damaging |
Het |
| Trpm4 |
C |
A |
7: 45,319,259 (GRCm38) |
G417W |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,854,290 (GRCm38) |
R1506S |
probably benign |
Het |
| Tspan18 |
A |
G |
2: 93,209,960 (GRCm38) |
V150A |
possibly damaging |
Het |
| Ttc39d |
T |
C |
17: 80,215,923 (GRCm38) |
F4L |
probably benign |
Het |
| Zdhhc4 |
A |
T |
5: 143,321,864 (GRCm38) |
L134H |
probably damaging |
Het |
| Zfp407 |
A |
T |
18: 84,559,291 (GRCm38) |
S1232R |
probably benign |
Het |
| Zswim2 |
A |
C |
2: 83,916,883 (GRCm38) |
F353V |
probably benign |
Het |
|
| Other mutations in Dnmbp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00477:Dnmbp
|
APN |
19 |
43,902,479 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01301:Dnmbp
|
APN |
19 |
43,902,354 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL01443:Dnmbp
|
APN |
19 |
43,902,870 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01569:Dnmbp
|
APN |
19 |
43,874,856 (GRCm38) |
missense |
probably benign |
0.14 |
|
IGL01818:Dnmbp
|
APN |
19 |
43,901,165 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01989:Dnmbp
|
APN |
19 |
43,867,555 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02111:Dnmbp
|
APN |
19 |
43,867,555 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02666:Dnmbp
|
APN |
19 |
43,854,127 (GRCm38) |
splice site |
probably benign |
|
|
IGL02736:Dnmbp
|
APN |
19 |
43,849,770 (GRCm38) |
splice site |
probably benign |
|
|
ANU18:Dnmbp
|
UTSW |
19 |
43,902,354 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0013:Dnmbp
|
UTSW |
19 |
43,902,231 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0013:Dnmbp
|
UTSW |
19 |
43,902,231 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0032:Dnmbp
|
UTSW |
19 |
43,902,719 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0032:Dnmbp
|
UTSW |
19 |
43,902,719 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0101:Dnmbp
|
UTSW |
19 |
43,874,160 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0129:Dnmbp
|
UTSW |
19 |
43,850,027 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0288:Dnmbp
|
UTSW |
19 |
43,902,459 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R0322:Dnmbp
|
UTSW |
19 |
43,854,846 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0426:Dnmbp
|
UTSW |
19 |
43,852,436 (GRCm38) |
splice site |
probably benign |
|
|
R0432:Dnmbp
|
UTSW |
19 |
43,854,857 (GRCm38) |
nonsense |
probably null |
|
|
R0497:Dnmbp
|
UTSW |
19 |
43,856,640 (GRCm38) |
splice site |
probably benign |
|
|
R1306:Dnmbp
|
UTSW |
19 |
43,901,779 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1765:Dnmbp
|
UTSW |
19 |
43,902,140 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R1800:Dnmbp
|
UTSW |
19 |
43,901,720 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1846:Dnmbp
|
UTSW |
19 |
43,902,747 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1916:Dnmbp
|
UTSW |
19 |
43,901,568 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R2001:Dnmbp
|
UTSW |
19 |
43,850,173 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R2131:Dnmbp
|
UTSW |
19 |
43,854,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2156:Dnmbp
|
UTSW |
19 |
43,901,907 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R2238:Dnmbp
|
UTSW |
19 |
43,868,864 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R2372:Dnmbp
|
UTSW |
19 |
43,902,320 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4817:Dnmbp
|
UTSW |
19 |
43,849,972 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5093:Dnmbp
|
UTSW |
19 |
43,849,876 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5249:Dnmbp
|
UTSW |
19 |
43,902,440 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5970:Dnmbp
|
UTSW |
19 |
43,854,171 (GRCm38) |
missense |
probably benign |
0.28 |
|
R6168:Dnmbp
|
UTSW |
19 |
43,850,240 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6189:Dnmbp
|
UTSW |
19 |
43,901,511 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6189:Dnmbp
|
UTSW |
19 |
43,890,309 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6239:Dnmbp
|
UTSW |
19 |
43,848,185 (GRCm38) |
missense |
probably benign |
0.11 |
|
R6256:Dnmbp
|
UTSW |
19 |
43,852,281 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6461:Dnmbp
|
UTSW |
19 |
43,867,525 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6599:Dnmbp
|
UTSW |
19 |
43,856,586 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6704:Dnmbp
|
UTSW |
19 |
43,901,213 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7350:Dnmbp
|
UTSW |
19 |
43,901,505 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7355:Dnmbp
|
UTSW |
19 |
43,901,741 (GRCm38) |
missense |
probably benign |
|
|
R7409:Dnmbp
|
UTSW |
19 |
43,890,557 (GRCm38) |
missense |
unknown |
|
|
R7548:Dnmbp
|
UTSW |
19 |
43,889,399 (GRCm38) |
missense |
probably benign |
0.40 |
|
R7755:Dnmbp
|
UTSW |
19 |
43,850,086 (GRCm38) |
missense |
probably benign |
|
|
R7814:Dnmbp
|
UTSW |
19 |
43,854,176 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7954:Dnmbp
|
UTSW |
19 |
43,902,303 (GRCm38) |
missense |
probably benign |
|
|
R8282:Dnmbp
|
UTSW |
19 |
43,890,566 (GRCm38) |
missense |
unknown |
|
|
R8385:Dnmbp
|
UTSW |
19 |
43,889,651 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8696:Dnmbp
|
UTSW |
19 |
43,874,223 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8738:Dnmbp
|
UTSW |
19 |
43,912,238 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8819:Dnmbp
|
UTSW |
19 |
43,901,415 (GRCm38) |
missense |
probably benign |
0.43 |
|
R8824:Dnmbp
|
UTSW |
19 |
43,849,837 (GRCm38) |
missense |
probably benign |
|
|
R8902:Dnmbp
|
UTSW |
19 |
43,901,786 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8906:Dnmbp
|
UTSW |
19 |
43,890,242 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8977:Dnmbp
|
UTSW |
19 |
43,852,312 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9628:Dnmbp
|
UTSW |
19 |
43,870,207 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9635:Dnmbp
|
UTSW |
19 |
43,867,535 (GRCm38) |
missense |
probably benign |
0.39 |
|
R9771:Dnmbp
|
UTSW |
19 |
43,866,592 (GRCm38) |
missense |
probably damaging |
0.96 |
|
Z1088:Dnmbp
|
UTSW |
19 |
43,902,122 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1088:Dnmbp
|
UTSW |
19 |
43,874,984 (GRCm38) |
missense |
probably benign |
0.01 |
|
Z1176:Dnmbp
|
UTSW |
19 |
43,889,367 (GRCm38) |
missense |
probably benign |
0.12 |
|
Z1176:Dnmbp
|
UTSW |
19 |
43,866,688 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGGCCTTTCAAGATCCAC -3'
(R):5'- ACGAATGAGTTGGACTTTGAGG -3'
Sequencing Primer
(F):5'- TTTCAAGATCCACATCAGGAGAG -3'
(R):5'- CTTTGAGGTAGGGGACAGAATTC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation