Incidental Mutation 'R0129:Dnmbp'
| ID |
21600 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnmbp
|
| Ensembl Gene |
ENSMUSG00000025195 |
| Gene Name |
dynamin binding protein |
| Synonyms |
2410003L07Rik, 2410003M15Rik, Tuba |
| MMRRC Submission |
038414-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0129 (G1)
|
| Quality Score |
144 |
|
Status
|
Validated
(trace)
|
| Chromosome |
19 |
| Chromosomal Location |
43835260-43928630 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43838466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 1120
(C1120R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026209]
[ENSMUST00000212032]
[ENSMUST00000212048]
[ENSMUST00000212396]
[ENSMUST00000212592]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026209
AA Change: C1436R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000026209
Gene: ENSMUSG00000025195
AA Change: C1436R
| 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: C1432R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212048
AA Change: C1120R
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212396
AA Change: C1436R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212592
AA Change: C679R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Meta Mutation Damage Score |
0.0602 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.7%
- 10x: 92.2%
- 20x: 74.4%
|
| Validation Efficiency |
100% (80/80) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa2 |
A |
G |
18: 74,920,265 (GRCm39) |
D31G |
probably damaging |
Het |
| Actr2 |
A |
G |
11: 20,050,939 (GRCm39) |
|
probably benign |
Het |
| Adcy8 |
A |
G |
15: 64,618,862 (GRCm39) |
C764R |
probably benign |
Het |
| Ago4 |
A |
C |
4: 126,410,976 (GRCm39) |
F171C |
possibly damaging |
Het |
| Akt2 |
T |
C |
7: 27,336,395 (GRCm39) |
F408S |
probably damaging |
Het |
| Ankrd24 |
T |
C |
10: 81,474,163 (GRCm39) |
L26P |
probably damaging |
Het |
| Appl1 |
A |
T |
14: 26,650,600 (GRCm39) |
M524K |
probably damaging |
Het |
| Arhgef11 |
T |
A |
3: 87,635,370 (GRCm39) |
I922N |
probably damaging |
Het |
| Atp5pd |
T |
C |
11: 115,308,744 (GRCm39) |
E47G |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,835,755 (GRCm39) |
D70G |
probably benign |
Het |
| Bola2 |
G |
A |
7: 126,295,731 (GRCm39) |
V56M |
probably damaging |
Het |
| Cd300lg |
A |
G |
11: 101,944,918 (GRCm39) |
|
probably null |
Het |
| Cdc42bpb |
A |
G |
12: 111,271,393 (GRCm39) |
|
probably benign |
Het |
| Ceacam20 |
A |
G |
7: 19,710,185 (GRCm39) |
N403S |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,391,847 (GRCm39) |
M662V |
probably benign |
Het |
| Chd3 |
C |
A |
11: 69,239,327 (GRCm39) |
E1607* |
probably null |
Het |
| Chtf18 |
A |
T |
17: 25,946,285 (GRCm39) |
Y9* |
probably null |
Het |
| Clta |
A |
G |
4: 44,032,424 (GRCm39) |
N200S |
probably benign |
Het |
| Csmd1 |
G |
A |
8: 16,129,956 (GRCm39) |
S1722F |
possibly damaging |
Het |
| Cyria |
C |
T |
12: 12,412,350 (GRCm39) |
T204I |
probably damaging |
Het |
| Dennd4a |
T |
C |
9: 64,800,576 (GRCm39) |
S905P |
probably damaging |
Het |
| Dhx57 |
T |
C |
17: 80,546,343 (GRCm39) |
K1347R |
probably damaging |
Het |
| Dmc1 |
A |
T |
15: 79,480,441 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
G |
T |
7: 105,370,131 (GRCm39) |
A4519S |
probably benign |
Het |
| Efs |
C |
T |
14: 55,154,680 (GRCm39) |
A427T |
probably damaging |
Het |
| Erich6 |
T |
C |
3: 58,531,799 (GRCm39) |
E399G |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,225,083 (GRCm39) |
T1431A |
probably benign |
Het |
| Fam184b |
A |
G |
5: 45,690,120 (GRCm39) |
S830P |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,355,357 (GRCm39) |
C2203S |
probably damaging |
Het |
| Itpr1 |
G |
A |
6: 108,326,637 (GRCm39) |
V120M |
probably damaging |
Het |
| Kcnh7 |
G |
A |
2: 62,546,503 (GRCm39) |
T1026I |
probably benign |
Het |
| Kif1b |
A |
G |
4: 149,345,658 (GRCm39) |
I394T |
probably benign |
Het |
| Ldlrap1 |
A |
C |
4: 134,484,733 (GRCm39) |
V87G |
probably damaging |
Het |
| Lgals12 |
C |
T |
19: 7,580,403 (GRCm39) |
V155I |
probably damaging |
Het |
| Limch1 |
A |
T |
5: 67,116,933 (GRCm39) |
N116I |
probably damaging |
Het |
| Lonp2 |
C |
T |
8: 87,361,518 (GRCm39) |
R232C |
probably damaging |
Het |
| Lrch1 |
C |
A |
14: 75,073,186 (GRCm39) |
C151F |
probably benign |
Het |
| Lrig3 |
A |
G |
10: 125,842,812 (GRCm39) |
Y579C |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,327,068 (GRCm39) |
S4808G |
probably damaging |
Het |
| Mapkap1 |
A |
T |
2: 34,513,494 (GRCm39) |
K501N |
probably damaging |
Het |
| Mdc1 |
G |
T |
17: 36,165,337 (GRCm39) |
R1523L |
probably benign |
Het |
| Mlh3 |
C |
T |
12: 85,312,914 (GRCm39) |
|
probably benign |
Het |
| Mul1 |
T |
C |
4: 138,165,032 (GRCm39) |
|
probably benign |
Het |
| Mybl2 |
G |
A |
2: 162,901,411 (GRCm39) |
|
probably benign |
Het |
| Notch1 |
G |
C |
2: 26,350,470 (GRCm39) |
H2223Q |
probably benign |
Het |
| Notch2 |
C |
A |
3: 98,053,936 (GRCm39) |
L2200M |
probably benign |
Het |
| Odad3 |
G |
T |
9: 21,904,848 (GRCm39) |
R313S |
probably damaging |
Het |
| Or10ak8 |
A |
T |
4: 118,774,667 (GRCm39) |
|
probably null |
Het |
| Or12k5 |
G |
A |
2: 36,895,057 (GRCm39) |
R190* |
probably null |
Het |
| Or5ae2 |
T |
A |
7: 84,506,196 (GRCm39) |
F206L |
probably benign |
Het |
| Or8a1b |
T |
C |
9: 37,623,236 (GRCm39) |
Y113C |
probably damaging |
Het |
| Plekhs1 |
T |
C |
19: 56,465,722 (GRCm39) |
|
probably null |
Het |
| Ppm1h |
G |
A |
10: 122,777,260 (GRCm39) |
G509R |
probably damaging |
Het |
| Ppp2r3c |
C |
T |
12: 55,345,207 (GRCm39) |
E94K |
probably damaging |
Het |
| Ppp2r5e |
T |
A |
12: 75,509,164 (GRCm39) |
I372F |
probably damaging |
Het |
| Ptprt |
G |
A |
2: 162,119,990 (GRCm39) |
T159I |
probably benign |
Het |
| Rab20 |
A |
G |
8: 11,504,415 (GRCm39) |
F95S |
probably damaging |
Het |
| Rfc3 |
A |
C |
5: 151,574,616 (GRCm39) |
M1R |
probably null |
Het |
| Skp2 |
A |
G |
15: 9,125,280 (GRCm39) |
S100P |
probably damaging |
Het |
| Smg5 |
T |
C |
3: 88,256,540 (GRCm39) |
S269P |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,432,352 (GRCm39) |
T684S |
probably benign |
Het |
| Syt3 |
A |
G |
7: 44,042,782 (GRCm39) |
K355E |
probably damaging |
Het |
| Tcp10a |
A |
T |
17: 7,610,903 (GRCm39) |
K355N |
probably damaging |
Het |
| Tnrc18 |
A |
G |
5: 142,750,800 (GRCm39) |
|
probably benign |
Het |
| Tsfm |
A |
G |
10: 126,866,339 (GRCm39) |
L74P |
probably benign |
Het |
| Ttn |
G |
C |
2: 76,564,609 (GRCm39) |
N28509K |
probably damaging |
Het |
| Ube2l6 |
G |
A |
2: 84,629,252 (GRCm39) |
M1I |
probably null |
Het |
| Vmn2r80 |
T |
A |
10: 79,005,330 (GRCm39) |
H322Q |
probably damaging |
Het |
| Zkscan8 |
A |
T |
13: 21,706,441 (GRCm39) |
S212T |
probably benign |
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 |
|
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'- TCATTTTGCCCTGGCACAGAGTAAC -3'
(R):5'- TGAAGCCTTACAATCCTCGCTGC -3'
Sequencing Primer
(F):5'- GAGTAACCGACCACTTCTGAATG -3'
(R):5'- ACTCCTCCACGGAGTCAGAG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation