Incidental Mutation 'R6256:Dnmbp'
| ID |
506154 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnmbp
|
| Ensembl Gene |
ENSMUSG00000025195 |
| Gene Name |
dynamin binding protein |
| Synonyms |
2410003L07Rik, 2410003M15Rik, Tuba |
| MMRRC Submission |
044373-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6256 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
43835260-43928630 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 43840720 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 560
(V560M)
|
| 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: V1317M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026209
Gene: ENSMUSG00000025195
AA Change: V1317M
| 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 |
noncoding transcript
Transcript: ENSMUST00000157865
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212032
AA Change: V1313M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212048
AA Change: V1001M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212396
AA Change: V1317M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212592
AA Change: V560M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.2157 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| Validation Efficiency |
99% (74/75) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
T |
8: 73,205,272 (GRCm39) |
Q361L |
probably damaging |
Het |
| Abca7 |
A |
G |
10: 79,838,456 (GRCm39) |
T577A |
probably damaging |
Het |
| Acad12 |
A |
T |
5: 121,752,149 (GRCm39) |
V54E |
probably benign |
Het |
| Ago4 |
A |
G |
4: 126,414,019 (GRCm39) |
Y91H |
probably damaging |
Het |
| Akr1b10 |
T |
C |
6: 34,364,623 (GRCm39) |
V28A |
probably damaging |
Het |
| Ccdc33 |
T |
A |
9: 58,009,201 (GRCm39) |
|
probably null |
Het |
| Ccdc7a |
T |
C |
8: 129,662,074 (GRCm39) |
|
probably null |
Het |
| Ces1f |
A |
T |
8: 93,992,422 (GRCm39) |
V343E |
probably damaging |
Het |
| Cftr |
T |
C |
6: 18,274,660 (GRCm39) |
L896P |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,533,125 (GRCm39) |
P2375S |
probably damaging |
Het |
| Dnajb14 |
C |
T |
3: 137,614,124 (GRCm39) |
A345V |
probably damaging |
Het |
| Dnajb14 |
G |
C |
3: 137,614,123 (GRCm39) |
A345P |
probably damaging |
Het |
| Dnase1 |
G |
A |
16: 3,855,485 (GRCm39) |
R24K |
probably benign |
Het |
| Dop1b |
T |
A |
16: 93,604,102 (GRCm39) |
I1981N |
possibly damaging |
Het |
| Eif3a |
A |
C |
19: 60,759,464 (GRCm39) |
S770A |
possibly damaging |
Het |
| Fbxl7 |
A |
T |
15: 26,553,088 (GRCm39) |
C60S |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,881,702 (GRCm39) |
D2478V |
possibly damaging |
Het |
| Hrnr |
A |
G |
3: 93,229,918 (GRCm39) |
D52G |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,056,187 (GRCm39) |
L823M |
probably damaging |
Het |
| Kdm1a |
G |
T |
4: 136,295,911 (GRCm39) |
C172* |
probably null |
Het |
| Kdm6b |
C |
T |
11: 69,297,555 (GRCm39) |
E295K |
probably damaging |
Het |
| Mepe |
A |
T |
5: 104,484,940 (GRCm39) |
M27L |
probably benign |
Het |
| Mogat2 |
A |
T |
7: 98,869,102 (GRCm39) |
H305Q |
probably damaging |
Het |
| Mst1r |
T |
A |
9: 107,794,465 (GRCm39) |
Y1215N |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,343,532 (GRCm39) |
H48L |
possibly damaging |
Het |
| Myo7b |
T |
C |
18: 32,116,748 (GRCm39) |
D953G |
probably damaging |
Het |
| Ocel1 |
T |
C |
8: 71,824,472 (GRCm39) |
|
probably benign |
Het |
| Pcdhb6 |
A |
G |
18: 37,468,978 (GRCm39) |
D633G |
probably damaging |
Het |
| Ppm1l |
A |
G |
3: 69,405,230 (GRCm39) |
I176V |
probably benign |
Het |
| Sall3 |
C |
T |
18: 81,013,076 (GRCm39) |
R1120H |
possibly damaging |
Het |
| Sbf1 |
G |
A |
15: 89,185,070 (GRCm39) |
P1018S |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,900,472 (GRCm39) |
Y1065C |
probably damaging |
Het |
| Slc25a2 |
T |
C |
18: 37,770,776 (GRCm39) |
|
probably null |
Het |
| Slc4a2 |
C |
A |
5: 24,640,888 (GRCm39) |
T729K |
probably damaging |
Het |
| Sptlc2 |
T |
C |
12: 87,402,305 (GRCm39) |
E207G |
probably damaging |
Het |
| Sult6b1 |
A |
T |
17: 79,214,343 (GRCm39) |
F27I |
probably benign |
Het |
| Syf2 |
A |
T |
4: 134,661,889 (GRCm39) |
K84N |
probably damaging |
Het |
| Tmem209 |
A |
T |
6: 30,497,166 (GRCm39) |
N183K |
probably benign |
Het |
| Tmem232 |
G |
T |
17: 65,785,397 (GRCm39) |
Q188K |
possibly damaging |
Het |
| Tomm70a |
A |
T |
16: 56,973,055 (GRCm39) |
T598S |
probably benign |
Het |
| Ttll13 |
A |
G |
7: 79,908,052 (GRCm39) |
T556A |
probably benign |
Het |
| Vmn2r120 |
A |
T |
17: 57,831,700 (GRCm39) |
L363* |
probably null |
Het |
| Xpo6 |
G |
T |
7: 125,707,791 (GRCm39) |
Q872K |
probably damaging |
Het |
| Xrra1 |
A |
C |
7: 99,563,671 (GRCm39) |
S553R |
probably damaging |
Het |
| Zfy1 |
A |
T |
Y: 738,765 (GRCm39) |
V147E |
unknown |
Homo |
| Zfy2 |
T |
C |
Y: 2,116,267 (GRCm39) |
I258V |
probably benign |
Homo |
|
| 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 |
|
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'- AACACAGCGACATCTTCAGG -3'
(R):5'- TGCCAGCGTGAGTTTTCTC -3'
Sequencing Primer
(F):5'- GCAACTGTCTCTGAAAGTCATC -3'
(R):5'- GAGTTTTCTCATTGGCCCTGTTCTAC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation