Incidental Mutation 'R6168:Dnmbp'
| ID |
490280 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnmbp
|
| Ensembl Gene |
ENSMUSG00000025195 |
| Gene Name |
dynamin binding protein |
| Synonyms |
2410003L07Rik, 2410003M15Rik, Tuba |
| MMRRC Submission |
044430-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6168 (G1)
|
| Quality Score |
214.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
43835260-43928630 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43838679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 608
(S608P)
|
| 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: S1365P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026209
Gene: ENSMUSG00000025195
AA Change: S1365P
| 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: S1361P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212048
AA Change: S1049P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212396
AA Change: S1365P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212592
AA Change: S608P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
C |
T |
2: 68,571,827 (GRCm39) |
L568F |
possibly damaging |
Het |
| Adam3 |
A |
T |
8: 25,171,630 (GRCm39) |
|
probably null |
Het |
| Adamts13 |
G |
T |
2: 26,894,898 (GRCm39) |
A1069S |
probably benign |
Het |
| Adarb1 |
A |
G |
10: 77,158,153 (GRCm39) |
L98P |
probably damaging |
Het |
| Ahnak2 |
T |
C |
12: 112,747,750 (GRCm39) |
E1035G |
probably benign |
Het |
| Alox12b |
T |
A |
11: 69,060,460 (GRCm39) |
I672N |
probably damaging |
Het |
| Ark2n |
A |
G |
18: 77,761,653 (GRCm39) |
S220P |
probably damaging |
Het |
| Ash1l |
C |
T |
3: 88,960,080 (GRCm39) |
R2271* |
probably null |
Het |
| Atf7ip |
A |
G |
6: 136,536,817 (GRCm39) |
T17A |
probably damaging |
Het |
| Col6a5 |
A |
G |
9: 105,752,986 (GRCm39) |
|
probably null |
Het |
| Crcp |
A |
G |
5: 130,066,737 (GRCm39) |
N41S |
probably damaging |
Het |
| Defb15 |
A |
C |
8: 22,420,069 (GRCm39) |
N19K |
possibly damaging |
Het |
| Dnah7a |
T |
A |
1: 53,450,727 (GRCm39) |
D3901V |
probably damaging |
Het |
| Dnah7b |
A |
C |
1: 46,329,863 (GRCm39) |
T3236P |
probably damaging |
Het |
| Efcab12 |
T |
C |
6: 115,791,577 (GRCm39) |
K532E |
probably damaging |
Het |
| Fbrsl1 |
C |
T |
5: 110,543,922 (GRCm39) |
V54M |
probably damaging |
Het |
| Gm14496 |
T |
A |
2: 181,642,750 (GRCm39) |
V807E |
probably damaging |
Het |
| Hoxa2 |
A |
G |
6: 52,140,461 (GRCm39) |
L175P |
probably damaging |
Het |
| Igkv4-58 |
A |
C |
6: 69,477,281 (GRCm39) |
D105E |
probably damaging |
Het |
| Igkv8-27 |
A |
T |
6: 70,148,880 (GRCm39) |
S91R |
probably benign |
Het |
| Itgax |
T |
C |
7: 127,732,269 (GRCm39) |
V175A |
probably damaging |
Het |
| Kcnc2 |
A |
G |
10: 112,291,661 (GRCm39) |
D283G |
probably benign |
Het |
| Lepr |
G |
A |
4: 101,592,789 (GRCm39) |
G135R |
probably damaging |
Het |
| Mcf2l |
A |
G |
8: 13,051,823 (GRCm39) |
S378G |
probably benign |
Het |
| Mta1 |
T |
A |
12: 113,086,739 (GRCm39) |
D145E |
probably damaging |
Het |
| Nkd1 |
T |
A |
8: 89,311,859 (GRCm39) |
N44K |
probably damaging |
Het |
| Notch2 |
A |
G |
3: 98,052,533 (GRCm39) |
K2010E |
probably damaging |
Het |
| Nsd3 |
G |
A |
8: 26,181,188 (GRCm39) |
G930S |
probably null |
Het |
| Or2w1 |
T |
G |
13: 21,317,399 (GRCm39) |
I151M |
possibly damaging |
Het |
| Or6c203 |
A |
G |
10: 129,010,035 (GRCm39) |
F285S |
probably damaging |
Het |
| Or8g35 |
A |
G |
9: 39,381,953 (GRCm39) |
L23P |
probably damaging |
Het |
| Or8k3 |
T |
G |
2: 86,058,938 (GRCm39) |
I126L |
probably damaging |
Het |
| Or8u8 |
T |
C |
2: 86,012,309 (GRCm39) |
I49V |
probably damaging |
Het |
| Pde4c |
G |
A |
8: 71,202,688 (GRCm39) |
E625K |
probably benign |
Het |
| Pdgfb |
T |
C |
15: 79,884,587 (GRCm39) |
T151A |
probably benign |
Het |
| Pik3r5 |
T |
C |
11: 68,383,501 (GRCm39) |
V440A |
probably benign |
Het |
| Piwil2 |
T |
C |
14: 70,632,800 (GRCm39) |
T591A |
probably benign |
Het |
| Ppm1l |
A |
G |
3: 69,456,740 (GRCm39) |
D219G |
probably damaging |
Het |
| Psmc6 |
T |
C |
14: 45,581,140 (GRCm39) |
I312T |
probably damaging |
Het |
| Rasl10a |
T |
C |
11: 5,008,442 (GRCm39) |
V46A |
possibly damaging |
Het |
| Rhov |
T |
C |
2: 119,101,453 (GRCm39) |
Y51C |
probably damaging |
Het |
| S100a16 |
C |
T |
3: 90,449,879 (GRCm39) |
Q121* |
probably null |
Het |
| Slc5a12 |
T |
C |
2: 110,447,089 (GRCm39) |
V199A |
probably damaging |
Het |
| Slc6a7 |
A |
T |
18: 61,134,734 (GRCm39) |
M447K |
probably benign |
Het |
| Tarbp1 |
A |
G |
8: 127,175,144 (GRCm39) |
V764A |
possibly damaging |
Het |
| Vmn1r197 |
T |
C |
13: 22,512,678 (GRCm39) |
Y200H |
possibly damaging |
Het |
| Vmn2r102 |
G |
A |
17: 19,914,402 (GRCm39) |
A656T |
possibly damaging |
Het |
| Vmn2r49 |
G |
T |
7: 9,718,713 (GRCm39) |
D450E |
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,911,048 (GRCm39) |
N813K |
probably damaging |
Het |
| Yeats2 |
T |
C |
16: 19,998,308 (GRCm39) |
S288P |
probably benign |
Het |
| Zfta |
T |
C |
19: 7,400,305 (GRCm39) |
V257A |
probably benign |
Het |
| Zswim6 |
G |
A |
13: 107,924,299 (GRCm39) |
|
noncoding transcript |
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 |
|
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'- AGAGTTTCGTGGGCACAGTC -3'
(R):5'- AAGCTGTGGACCACTAAGC -3'
Sequencing Primer
(F):5'- ACAGTCCTTCAGTGGAGATGCATC -3'
(R):5'- AGCTACATGTATGTCTGAGCACC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation