Incidental Mutation 'R0013:Dnmbp'
| ID |
32674 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnmbp
|
| Ensembl Gene |
ENSMUSG00000025195 |
| Gene Name |
dynamin binding protein |
| Synonyms |
2410003L07Rik, 2410003M15Rik, Tuba |
| MMRRC Submission |
038308-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0013 (G1)
|
| Quality Score |
176 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
43835260-43928630 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 43890670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 366
(P366S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148708
(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: P366S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000026209
Gene: ENSMUSG00000025195
AA Change: P366S
| 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: P366S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212396
AA Change: P366S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.8%
|
| Validation Efficiency |
94% (79/84) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
A |
G |
10: 76,293,346 (GRCm39) |
M156V |
probably benign |
Het |
| Adnp2 |
A |
T |
18: 80,172,960 (GRCm39) |
V483D |
probably damaging |
Het |
| Aff1 |
G |
T |
5: 103,976,350 (GRCm39) |
E491* |
probably null |
Het |
| Agl |
A |
T |
3: 116,570,257 (GRCm39) |
C911* |
probably null |
Het |
| Akt2 |
A |
G |
7: 27,335,483 (GRCm39) |
D284G |
probably damaging |
Het |
| Alox15 |
A |
G |
11: 70,240,461 (GRCm39) |
M240T |
possibly damaging |
Het |
| Antxr2 |
A |
G |
5: 98,127,844 (GRCm39) |
V229A |
probably damaging |
Het |
| Arap2 |
G |
A |
5: 62,840,827 (GRCm39) |
L680F |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,935,773 (GRCm39) |
T188A |
probably benign |
Het |
| Btnl6 |
G |
A |
17: 34,734,505 (GRCm39) |
Q86* |
probably null |
Het |
| C2cd3 |
T |
A |
7: 100,065,269 (GRCm39) |
L685H |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,248,952 (GRCm39) |
T878A |
possibly damaging |
Het |
| Clec4b2 |
T |
C |
6: 123,179,108 (GRCm39) |
Y137H |
probably damaging |
Het |
| Dchs1 |
T |
A |
7: 105,405,043 (GRCm39) |
T2500S |
possibly damaging |
Het |
| Def6 |
A |
G |
17: 28,436,066 (GRCm39) |
Y75C |
probably damaging |
Het |
| Dhx33 |
A |
T |
11: 70,884,461 (GRCm39) |
F448L |
probably damaging |
Het |
| Dner |
C |
T |
1: 84,472,614 (GRCm39) |
|
probably benign |
Het |
| Eif4g3 |
T |
C |
4: 137,903,159 (GRCm39) |
C1160R |
possibly damaging |
Het |
| Elmod1 |
G |
A |
9: 53,820,185 (GRCm39) |
|
probably benign |
Het |
| Faah |
C |
A |
4: 115,861,588 (GRCm39) |
L305F |
probably damaging |
Het |
| Flt1 |
A |
G |
5: 147,507,824 (GRCm39) |
|
probably benign |
Het |
| Fyco1 |
A |
T |
9: 123,651,471 (GRCm39) |
N1196K |
probably benign |
Het |
| Galnt18 |
T |
C |
7: 111,153,664 (GRCm39) |
N320S |
probably damaging |
Het |
| Garin3 |
A |
G |
11: 46,297,631 (GRCm39) |
T312A |
unknown |
Het |
| Glp2r |
C |
A |
11: 67,600,538 (GRCm39) |
G437V |
possibly damaging |
Het |
| Gm4884 |
T |
C |
7: 40,693,716 (GRCm39) |
S562P |
probably damaging |
Het |
| Gm9936 |
A |
G |
5: 114,995,408 (GRCm39) |
|
probably benign |
Het |
| Gpn2 |
C |
A |
4: 133,312,103 (GRCm39) |
P112T |
probably damaging |
Het |
| Grm4 |
A |
G |
17: 27,650,549 (GRCm39) |
Y816H |
probably benign |
Het |
| Helz2 |
A |
T |
2: 180,882,752 (GRCm39) |
S14T |
probably benign |
Het |
| Htt |
T |
C |
5: 34,977,448 (GRCm39) |
L778P |
probably benign |
Het |
| Il11ra1 |
T |
C |
4: 41,765,060 (GRCm39) |
S129P |
probably damaging |
Het |
| Ints11 |
T |
C |
4: 155,971,625 (GRCm39) |
F315S |
probably damaging |
Het |
| Itga11 |
A |
T |
9: 62,683,895 (GRCm39) |
N1059Y |
possibly damaging |
Het |
| Jak3 |
A |
G |
8: 72,136,971 (GRCm39) |
S716G |
probably damaging |
Het |
| Kcns1 |
G |
T |
2: 164,010,563 (GRCm39) |
D65E |
probably benign |
Het |
| Kdm5d |
A |
T |
Y: 941,715 (GRCm39) |
K1305N |
probably benign |
Het |
| Kif26a |
G |
T |
12: 112,144,314 (GRCm39) |
V1523L |
probably benign |
Het |
| Mboat7 |
A |
G |
7: 3,686,821 (GRCm39) |
S340P |
probably damaging |
Het |
| Mctp2 |
T |
C |
7: 71,879,156 (GRCm39) |
I234V |
probably benign |
Het |
| Mex3c |
G |
A |
18: 73,723,622 (GRCm39) |
A572T |
probably benign |
Het |
| Mpp3 |
C |
A |
11: 101,896,251 (GRCm39) |
R424L |
probably benign |
Het |
| Mroh4 |
T |
A |
15: 74,480,086 (GRCm39) |
|
probably benign |
Het |
| Myo9a |
A |
T |
9: 59,767,489 (GRCm39) |
|
probably benign |
Het |
| Myog |
T |
A |
1: 134,217,973 (GRCm39) |
H60Q |
probably damaging |
Het |
| Nlrp9a |
T |
A |
7: 26,270,650 (GRCm39) |
|
probably null |
Het |
| Notch1 |
A |
G |
2: 26,363,830 (GRCm39) |
V868A |
possibly damaging |
Het |
| Or10g9b |
A |
T |
9: 39,917,651 (GRCm39) |
I198N |
probably damaging |
Het |
| Or1j20 |
A |
G |
2: 36,760,172 (GRCm39) |
N198S |
probably damaging |
Het |
| Or1p1 |
T |
A |
11: 74,179,877 (GRCm39) |
I135N |
possibly damaging |
Het |
| Or5d18 |
T |
C |
2: 87,864,610 (GRCm39) |
Y291C |
possibly damaging |
Het |
| Pink1 |
T |
C |
4: 138,044,712 (GRCm39) |
T342A |
probably benign |
Het |
| Plb1 |
T |
A |
5: 32,506,959 (GRCm39) |
|
probably benign |
Het |
| Plec |
T |
C |
15: 76,062,446 (GRCm39) |
D2524G |
probably damaging |
Het |
| Plekhg4 |
G |
T |
8: 106,102,028 (GRCm39) |
E6* |
probably null |
Het |
| Polq |
T |
C |
16: 36,882,201 (GRCm39) |
F1455S |
possibly damaging |
Het |
| Ppm1e |
A |
G |
11: 87,139,884 (GRCm39) |
|
probably benign |
Het |
| Prkaca |
G |
A |
8: 84,714,932 (GRCm39) |
M119I |
possibly damaging |
Het |
| Prss46 |
G |
T |
9: 110,679,123 (GRCm39) |
S108I |
probably damaging |
Het |
| Ptma |
C |
T |
1: 86,457,498 (GRCm39) |
|
probably benign |
Het |
| Rab11fip4 |
C |
T |
11: 79,580,479 (GRCm39) |
T437M |
probably benign |
Het |
| Rngtt |
T |
A |
4: 33,379,409 (GRCm39) |
M437K |
probably benign |
Het |
| Rrn3 |
T |
A |
16: 13,630,977 (GRCm39) |
D604E |
possibly damaging |
Het |
| Scn4a |
A |
G |
11: 106,239,231 (GRCm39) |
|
probably benign |
Het |
| Sis |
A |
G |
3: 72,817,809 (GRCm39) |
L1468P |
possibly damaging |
Het |
| Slit3 |
A |
G |
11: 35,598,745 (GRCm39) |
M1450V |
probably benign |
Het |
| Smg5 |
T |
C |
3: 88,256,540 (GRCm39) |
S269P |
probably benign |
Het |
| Sntg1 |
T |
C |
1: 8,533,686 (GRCm39) |
T323A |
probably damaging |
Het |
| Son |
C |
T |
16: 91,448,550 (GRCm39) |
T37I |
probably damaging |
Het |
| Stk17b |
T |
C |
1: 53,803,291 (GRCm39) |
I41M |
probably benign |
Het |
| Tgm5 |
T |
A |
2: 120,907,363 (GRCm39) |
Y120F |
probably damaging |
Het |
| Tppp |
A |
G |
13: 74,169,479 (GRCm39) |
K73R |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,569,502 (GRCm39) |
K27130N |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,738,096 (GRCm39) |
V4148I |
probably benign |
Het |
| Tut4 |
T |
A |
4: 108,388,152 (GRCm39) |
|
probably benign |
Het |
| Uba7 |
A |
T |
9: 107,855,448 (GRCm39) |
Y375F |
probably damaging |
Het |
| Ugcg |
T |
C |
4: 59,213,931 (GRCm39) |
L171P |
possibly damaging |
Het |
| Vsig2 |
T |
C |
9: 37,453,872 (GRCm39) |
|
probably benign |
Het |
| Zfp839 |
T |
A |
12: 110,834,820 (GRCm39) |
S692T |
possibly 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 |
|
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 |
|
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'- TACCTGAGGCTGGGAAGAAACACC -3'
(R):5'- TCTACAGATTCCAAGCCCTGGAGAC -3'
Sequencing Primer
(F):5'- AGAAACACCGTTGACTTCCTCTG -3'
(R):5'- TGTGAAGTTATGTCCTAGCAACAGG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation