Incidental Mutation 'R1846:Dnmbp'
| ID |
207768 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnmbp
|
| Ensembl Gene |
ENSMUSG00000025195 |
| Gene Name |
dynamin binding protein |
| Synonyms |
2410003L07Rik, 2410003M15Rik, Tuba |
| MMRRC Submission |
039871-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1846 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
43835260-43928630 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43891186 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 194
(I194V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026209]
[ENSMUST00000212032]
[ENSMUST00000212396]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026209
AA Change: I194V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026209
Gene: ENSMUSG00000025195
AA Change: I194V
| 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: I194V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212396
AA Change: I194V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.1941 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.6%
|
| Validation Efficiency |
99% (75/76) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
G |
A |
7: 12,246,809 (GRCm39) |
R63Q |
probably benign |
Het |
| Adamts20 |
A |
T |
15: 94,243,871 (GRCm39) |
C619S |
probably damaging |
Het |
| Alx1 |
T |
C |
10: 102,861,165 (GRCm39) |
D121G |
possibly damaging |
Het |
| Anks3 |
A |
C |
16: 4,771,748 (GRCm39) |
M215R |
probably benign |
Het |
| Anxa4 |
T |
A |
6: 86,718,893 (GRCm39) |
|
probably null |
Het |
| Arhgef25 |
A |
G |
10: 127,021,733 (GRCm39) |
V222A |
probably damaging |
Het |
| Bglap2 |
A |
G |
3: 88,285,932 (GRCm39) |
|
probably benign |
Het |
| Cars2 |
A |
G |
8: 11,564,674 (GRCm39) |
V22A |
probably benign |
Het |
| Ccdc198 |
G |
T |
14: 49,473,420 (GRCm39) |
L102I |
probably damaging |
Het |
| Cenpe |
T |
A |
3: 134,945,606 (GRCm39) |
I1040N |
probably damaging |
Het |
| Cep170 |
C |
T |
1: 176,583,335 (GRCm39) |
D1015N |
probably damaging |
Het |
| Chia1 |
T |
A |
3: 106,038,181 (GRCm39) |
I359N |
probably damaging |
Het |
| Crot |
A |
T |
5: 9,038,248 (GRCm39) |
V93E |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dock4 |
T |
A |
12: 40,783,267 (GRCm39) |
C734S |
probably benign |
Het |
| Eif4e3 |
T |
C |
6: 99,617,662 (GRCm39) |
S70G |
probably benign |
Het |
| Entpd3 |
G |
A |
9: 120,387,441 (GRCm39) |
D213N |
probably benign |
Het |
| Ern2 |
T |
G |
7: 121,775,759 (GRCm39) |
Y445S |
probably benign |
Het |
| Fasn |
A |
G |
11: 120,704,133 (GRCm39) |
S1429P |
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,036,532 (GRCm39) |
I3395V |
probably benign |
Het |
| Fbln2 |
C |
A |
6: 91,233,399 (GRCm39) |
Q628K |
possibly damaging |
Het |
| Fbxo28 |
T |
C |
1: 182,153,845 (GRCm39) |
N164D |
probably benign |
Het |
| Fez1 |
T |
C |
9: 36,779,063 (GRCm39) |
S247P |
probably damaging |
Het |
| Gars1 |
A |
G |
6: 55,040,153 (GRCm39) |
D360G |
probably benign |
Het |
| Gcfc2 |
A |
T |
6: 81,933,873 (GRCm39) |
Q710L |
probably damaging |
Het |
| Ggt5 |
A |
G |
10: 75,446,376 (GRCm39) |
|
probably null |
Het |
| Glp1r |
A |
G |
17: 31,148,909 (GRCm39) |
|
probably null |
Het |
| Hspa14 |
T |
C |
2: 3,492,697 (GRCm39) |
D356G |
possibly damaging |
Het |
| Htt |
T |
A |
5: 35,006,288 (GRCm39) |
I1399N |
probably damaging |
Het |
| Kmt2e |
G |
A |
5: 23,704,484 (GRCm39) |
|
probably benign |
Het |
| Krt36 |
C |
A |
11: 99,996,374 (GRCm39) |
G17C |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,088,092 (GRCm39) |
E895G |
probably damaging |
Het |
| Lamb2 |
G |
A |
9: 108,364,586 (GRCm39) |
R1142H |
probably benign |
Het |
| Lhcgr |
C |
T |
17: 89,072,575 (GRCm39) |
|
probably null |
Het |
| Lpin2 |
A |
G |
17: 71,532,064 (GRCm39) |
T140A |
probably benign |
Het |
| Metap1 |
A |
G |
3: 138,186,443 (GRCm39) |
|
probably benign |
Het |
| Mpeg1 |
T |
C |
19: 12,440,486 (GRCm39) |
V648A |
probably benign |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,752,369 (GRCm38) |
I749N |
probably benign |
Het |
| N4bp2 |
T |
C |
5: 65,965,862 (GRCm39) |
F1304L |
probably damaging |
Het |
| Nup85 |
A |
G |
11: 115,459,239 (GRCm39) |
E114G |
probably benign |
Het |
| Or2a5 |
A |
G |
6: 42,874,254 (GRCm39) |
S290G |
probably damaging |
Het |
| Or4c10 |
A |
G |
2: 89,761,010 (GRCm39) |
T286A |
possibly damaging |
Het |
| Or6b2b |
A |
T |
1: 92,418,822 (GRCm39) |
Y218* |
probably null |
Het |
| Pafah2 |
GCCCC |
GCCCCC |
4: 134,152,852 (GRCm39) |
|
probably null |
Het |
| Parp2 |
T |
A |
14: 51,052,843 (GRCm39) |
C145* |
probably null |
Het |
| Plpp6 |
T |
C |
19: 28,941,680 (GRCm39) |
S94P |
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,953,172 (GRCm39) |
I1580T |
probably damaging |
Het |
| Polrmt |
A |
T |
10: 79,574,043 (GRCm39) |
V860E |
probably damaging |
Het |
| Ppp1r17 |
A |
G |
6: 55,999,412 (GRCm39) |
E15G |
possibly damaging |
Het |
| Prl7b1 |
A |
T |
13: 27,786,831 (GRCm39) |
W133R |
probably damaging |
Het |
| Ptk7 |
A |
G |
17: 46,887,416 (GRCm39) |
|
probably null |
Het |
| Rad23b |
C |
T |
4: 55,383,637 (GRCm39) |
Q290* |
probably null |
Het |
| Rorb |
C |
T |
19: 18,932,445 (GRCm39) |
E369K |
probably damaging |
Het |
| Rusc1 |
T |
C |
3: 88,999,452 (GRCm39) |
D110G |
probably damaging |
Het |
| Smg7 |
A |
G |
1: 152,724,601 (GRCm39) |
S527P |
probably damaging |
Het |
| Ssbp2 |
C |
T |
13: 91,812,268 (GRCm39) |
P105L |
probably damaging |
Het |
| Stt3a |
C |
T |
9: 36,674,681 (GRCm39) |
R34H |
probably damaging |
Het |
| Sufu |
T |
A |
19: 46,439,386 (GRCm39) |
I202N |
possibly damaging |
Het |
| Thsd7b |
G |
A |
1: 129,540,993 (GRCm39) |
R289Q |
probably damaging |
Het |
| Tph1 |
A |
T |
7: 46,309,863 (GRCm39) |
S130T |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,776,030 (GRCm39) |
S1671P |
probably damaging |
Het |
| Usp4 |
A |
G |
9: 108,249,935 (GRCm39) |
I441V |
probably benign |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,413 (GRCm39) |
N155D |
probably benign |
Het |
| Vmn2r115 |
A |
C |
17: 23,578,357 (GRCm39) |
K610T |
probably damaging |
Het |
| Vmn2r62 |
G |
A |
7: 42,438,546 (GRCm39) |
P97S |
probably damaging |
Het |
| Zbtb40 |
T |
C |
4: 136,735,150 (GRCm39) |
D297G |
probably benign |
Het |
| Zfp174 |
C |
A |
16: 3,672,599 (GRCm39) |
Q383K |
probably benign |
Het |
| Zfp318 |
T |
A |
17: 46,724,592 (GRCm39) |
D2198E |
probably benign |
Het |
| Zfp628 |
C |
T |
7: 4,923,866 (GRCm39) |
P696L |
possibly damaging |
Het |
| Zgrf1 |
T |
A |
3: 127,409,112 (GRCm39) |
N1695K |
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 |
|
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 |
|
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'- AATTCTGTCCCCTACCTCAAAG -3'
(R):5'- CACAGAGTGCGTTGCTTCAG -3'
Sequencing Primer
(F):5'- ATCTGTAGAGGGCGATTCCATAG -3'
(R):5'- TTGCTTCAGGCCCCAGAGTAC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation