Incidental Mutation 'IGL02111:Dnmbp'
| ID |
280167 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dnmbp
|
| Ensembl Gene |
ENSMUSG00000025195 |
| Gene Name |
dynamin binding protein |
| Synonyms |
2410003L07Rik, 2410003M15Rik, Tuba |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02111
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
43835260-43928630 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43855994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 254
(L254P)
|
| 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: L1011P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026209
Gene: ENSMUSG00000025195
AA Change: L1011P
| 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: L1007P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212048
AA Change: L695P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212396
AA Change: L1011P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212592
AA Change: L254P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg3 |
G |
A |
8: 95,761,627 (GRCm39) |
R130Q |
probably damaging |
Het |
| Adipor2 |
A |
T |
6: 119,347,157 (GRCm39) |
L42* |
probably null |
Het |
| Ankrd45 |
A |
G |
1: 160,990,921 (GRCm39) |
K259E |
probably damaging |
Het |
| Apoc3 |
T |
C |
9: 46,145,772 (GRCm39) |
K79R |
possibly damaging |
Het |
| Arhgap40 |
T |
C |
2: 158,381,764 (GRCm39) |
Y416H |
probably damaging |
Het |
| Armc5 |
A |
G |
7: 127,843,255 (GRCm39) |
T683A |
probably benign |
Het |
| Bora |
T |
C |
14: 99,284,813 (GRCm39) |
V21A |
probably damaging |
Het |
| Cacna1b |
C |
T |
2: 24,497,003 (GRCm39) |
S2189N |
probably damaging |
Het |
| Cct2 |
G |
A |
10: 116,889,017 (GRCm39) |
T57I |
probably damaging |
Het |
| Cd200r1 |
A |
T |
16: 44,609,144 (GRCm39) |
N34Y |
probably damaging |
Het |
| Cd300ld2 |
T |
A |
11: 114,903,219 (GRCm39) |
|
probably benign |
Het |
| Cntnap5a |
G |
A |
1: 116,017,082 (GRCm39) |
R225H |
probably benign |
Het |
| Cntnap5c |
A |
T |
17: 58,409,103 (GRCm39) |
D447V |
probably damaging |
Het |
| Cpne7 |
T |
C |
8: 123,852,392 (GRCm39) |
|
probably benign |
Het |
| Dap3 |
G |
A |
3: 88,836,725 (GRCm39) |
T92I |
probably benign |
Het |
| Egfem1 |
G |
A |
3: 29,705,045 (GRCm39) |
|
probably null |
Het |
| Fam120b |
T |
C |
17: 15,622,847 (GRCm39) |
L275P |
possibly damaging |
Het |
| Fam161a |
A |
T |
11: 22,970,026 (GRCm39) |
H68L |
probably benign |
Het |
| Fam193a |
A |
G |
5: 34,568,001 (GRCm39) |
E100G |
possibly damaging |
Het |
| Ftmt |
A |
T |
18: 52,465,125 (GRCm39) |
D147V |
possibly damaging |
Het |
| Gm10136 |
T |
C |
19: 28,981,122 (GRCm39) |
K41E |
probably benign |
Het |
| Gm10797 |
C |
T |
10: 67,408,397 (GRCm39) |
|
noncoding transcript |
Het |
| Hsf1 |
A |
G |
15: 76,380,281 (GRCm39) |
|
probably benign |
Het |
| Ipo8 |
A |
G |
6: 148,701,278 (GRCm39) |
V514A |
probably damaging |
Het |
| Itfg2 |
T |
C |
6: 128,387,344 (GRCm39) |
H422R |
probably benign |
Het |
| Lrp4 |
G |
T |
2: 91,336,404 (GRCm39) |
L1738F |
probably damaging |
Het |
| Matcap2 |
T |
C |
9: 22,335,475 (GRCm39) |
I31T |
probably benign |
Het |
| Mettl17 |
A |
G |
14: 52,128,843 (GRCm39) |
E371G |
probably damaging |
Het |
| Mfsd6 |
A |
T |
1: 52,747,503 (GRCm39) |
L454Q |
probably damaging |
Het |
| Myh10 |
A |
T |
11: 68,680,938 (GRCm39) |
E956V |
probably damaging |
Het |
| Ncoa1 |
A |
T |
12: 4,324,944 (GRCm39) |
M1K |
probably null |
Het |
| Or2d3c |
A |
C |
7: 106,525,823 (GRCm39) |
V281G |
probably damaging |
Het |
| Or52e4 |
A |
G |
7: 104,706,152 (GRCm39) |
D233G |
probably benign |
Het |
| Or5d36 |
T |
A |
2: 87,901,571 (GRCm39) |
N52Y |
probably benign |
Het |
| Otop1 |
T |
A |
5: 38,435,045 (GRCm39) |
C89S |
probably benign |
Het |
| Pitrm1 |
G |
T |
13: 6,623,181 (GRCm39) |
R775L |
probably benign |
Het |
| Prpf19 |
A |
G |
19: 10,882,458 (GRCm39) |
T512A |
probably benign |
Het |
| Prpf4b |
T |
A |
13: 35,067,944 (GRCm39) |
S258T |
probably benign |
Het |
| Rhbdl2 |
T |
C |
4: 123,716,630 (GRCm39) |
Y196H |
probably damaging |
Het |
| Rnf187 |
T |
C |
11: 58,828,006 (GRCm39) |
D148G |
probably damaging |
Het |
| Sbds |
A |
G |
5: 130,279,782 (GRCm39) |
I74T |
probably damaging |
Het |
| Sec63 |
T |
C |
10: 42,686,884 (GRCm39) |
V468A |
probably damaging |
Het |
| Slc35b3 |
A |
T |
13: 39,139,758 (GRCm39) |
M23K |
probably damaging |
Het |
| Slc6a9 |
A |
T |
4: 117,721,210 (GRCm39) |
Y208F |
probably benign |
Het |
| Slfn8 |
A |
T |
11: 82,895,324 (GRCm39) |
L494Q |
probably damaging |
Het |
| Sorcs1 |
T |
G |
19: 50,218,683 (GRCm39) |
M600L |
probably benign |
Het |
| Supt7l |
T |
C |
5: 31,673,022 (GRCm39) |
|
probably null |
Het |
| Tecrl |
T |
A |
5: 83,502,639 (GRCm39) |
Q70L |
probably damaging |
Het |
| Tedc2 |
A |
T |
17: 24,437,140 (GRCm39) |
|
probably benign |
Het |
| Tespa1 |
A |
G |
10: 130,191,353 (GRCm39) |
D99G |
probably damaging |
Het |
| Tmem126b |
G |
T |
7: 90,118,269 (GRCm39) |
Q204K |
probably damaging |
Het |
| Tmem181c-ps |
A |
T |
17: 6,887,766 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem184a |
G |
T |
5: 139,798,856 (GRCm39) |
T31K |
possibly damaging |
Het |
| Tmprss11e |
T |
A |
5: 86,867,660 (GRCm39) |
I137F |
possibly damaging |
Het |
| Tmprss13 |
C |
T |
9: 45,247,403 (GRCm39) |
T255I |
probably damaging |
Het |
| Top1mt |
G |
A |
15: 75,537,555 (GRCm39) |
|
probably benign |
Het |
| Treh |
C |
T |
9: 44,594,258 (GRCm39) |
T168I |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,597,672 (GRCm39) |
I11420N |
probably benign |
Het |
| Zp2 |
T |
C |
7: 119,731,641 (GRCm39) |
K705E |
possibly damaging |
Het |
| Zw10 |
T |
C |
9: 48,980,054 (GRCm39) |
I395T |
probably 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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation