Incidental Mutation 'R8902:Dnmbp'
| ID |
678274 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnmbp
|
| Ensembl Gene |
ENSMUSG00000025195 |
| Gene Name |
dynamin binding protein |
| Synonyms |
2410003L07Rik, 2410003M15Rik, Tuba |
| MMRRC Submission |
068759-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8902 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
43835260-43928630 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43890225 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 514
(L514P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026209
(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: L514P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000026209
Gene: ENSMUSG00000025195
AA Change: L514P
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212396
AA Change: L514P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap3 |
G |
T |
4: 155,990,371 (GRCm39) |
R819L |
possibly damaging |
Het |
| App |
A |
G |
16: 84,876,767 (GRCm39) |
V208A |
unknown |
Het |
| C1qtnf7 |
G |
A |
5: 43,773,204 (GRCm39) |
E168K |
probably damaging |
Het |
| Cacna1e |
C |
T |
1: 154,349,632 (GRCm39) |
M757I |
probably benign |
Het |
| Casp1 |
A |
G |
9: 5,299,333 (GRCm39) |
T21A |
probably benign |
Het |
| Ccdc92 |
C |
T |
5: 124,912,705 (GRCm39) |
A275T |
possibly damaging |
Het |
| Ccr4 |
T |
A |
9: 114,325,620 (GRCm39) |
|
probably benign |
Het |
| Cct8l1 |
C |
T |
5: 25,722,908 (GRCm39) |
T541I |
probably benign |
Het |
| Chrng |
G |
T |
1: 87,138,397 (GRCm39) |
R396L |
possibly damaging |
Het |
| Cmip |
A |
G |
8: 118,103,925 (GRCm39) |
T50A |
probably damaging |
Het |
| Ddx21 |
C |
A |
10: 62,434,486 (GRCm39) |
S91I |
probably benign |
Het |
| Echs1 |
A |
T |
7: 139,690,499 (GRCm39) |
M191K |
probably damaging |
Het |
| Eps8 |
A |
G |
6: 137,489,175 (GRCm39) |
S408P |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,200,896 (GRCm39) |
E726G |
probably damaging |
Het |
| Fpr2 |
T |
C |
17: 18,113,190 (GRCm39) |
I62T |
probably benign |
Het |
| Gemin4 |
G |
A |
11: 76,102,848 (GRCm39) |
Q638* |
probably null |
Het |
| Glrb |
A |
T |
3: 80,769,285 (GRCm39) |
N147K |
probably damaging |
Het |
| Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
| Gtf2i |
T |
C |
5: 134,278,720 (GRCm39) |
N637S |
probably benign |
Het |
| Hivep3 |
A |
G |
4: 119,953,937 (GRCm39) |
E751G |
possibly damaging |
Het |
| Ifnb1 |
G |
T |
4: 88,440,547 (GRCm39) |
N155K |
probably damaging |
Het |
| Igf2bp3 |
G |
T |
6: 49,065,365 (GRCm39) |
T509K |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,243,633 (GRCm39) |
M234V |
probably benign |
Het |
| Iqgap2 |
C |
T |
13: 95,818,711 (GRCm39) |
A682T |
probably benign |
Het |
| Ireb2 |
T |
G |
9: 54,799,786 (GRCm39) |
M409R |
probably benign |
Het |
| Kat6b |
C |
T |
14: 21,719,629 (GRCm39) |
T1327I |
probably benign |
Het |
| Krtap5-5 |
A |
G |
7: 141,783,630 (GRCm39) |
S7P |
unknown |
Het |
| Lelp1 |
A |
T |
3: 92,042,978 (GRCm39) |
C24S |
unknown |
Het |
| Malrd1 |
A |
T |
2: 16,260,145 (GRCm39) |
K2122* |
probably null |
Het |
| Mei1 |
C |
A |
15: 81,954,212 (GRCm39) |
R6S |
unknown |
Het |
| Meis3 |
T |
A |
7: 15,911,887 (GRCm39) |
I119N |
probably benign |
Het |
| Mmp20 |
T |
C |
9: 7,639,288 (GRCm39) |
V152A |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,233,791 (GRCm39) |
I797F |
possibly damaging |
Het |
| Myo7a |
C |
T |
7: 97,741,820 (GRCm39) |
E439K |
probably damaging |
Het |
| Neb |
C |
A |
2: 52,133,222 (GRCm39) |
A3439S |
probably damaging |
Het |
| Nfe2l1 |
T |
A |
11: 96,708,620 (GRCm39) |
D715V |
unknown |
Het |
| Obscn |
C |
A |
11: 59,026,762 (GRCm39) |
R147L |
probably benign |
Het |
| Or14j5 |
T |
A |
17: 38,162,101 (GRCm39) |
M206K |
probably benign |
Het |
| Or2m12 |
T |
A |
16: 19,105,383 (GRCm39) |
I37F |
probably damaging |
Het |
| Or2y1b |
A |
T |
11: 49,209,206 (GRCm39) |
T278S |
probably benign |
Het |
| Or4e5 |
G |
A |
14: 52,728,010 (GRCm39) |
T137I |
probably benign |
Het |
| Or5d38 |
A |
G |
2: 87,954,778 (GRCm39) |
S184P |
probably damaging |
Het |
| Plg |
T |
A |
17: 12,629,790 (GRCm39) |
F608Y |
probably benign |
Het |
| Plppr1 |
C |
A |
4: 49,319,836 (GRCm39) |
P154Q |
probably damaging |
Het |
| Ppp2r5e |
T |
C |
12: 75,500,570 (GRCm39) |
K441R |
probably benign |
Het |
| Prkaca |
T |
C |
8: 84,703,714 (GRCm39) |
S5P |
probably benign |
Het |
| Rbl1 |
T |
C |
2: 157,041,420 (GRCm39) |
K69R |
probably benign |
Het |
| Rbpms2 |
T |
C |
9: 65,558,351 (GRCm39) |
I129T |
probably benign |
Het |
| Serpina1c |
A |
T |
12: 103,865,117 (GRCm39) |
N176K |
probably damaging |
Het |
| Sgsm3 |
C |
T |
15: 80,890,796 (GRCm39) |
H117Y |
probably damaging |
Het |
| Sphkap |
A |
T |
1: 83,256,685 (GRCm39) |
C355S |
probably benign |
Het |
| Stpg2 |
T |
A |
3: 139,004,170 (GRCm39) |
V249E |
probably damaging |
Het |
| Syt2 |
T |
C |
1: 134,675,391 (GRCm39) |
V414A |
possibly damaging |
Het |
| Tiam2 |
T |
C |
17: 3,527,471 (GRCm39) |
I1050T |
probably benign |
Het |
| Tmem131 |
A |
T |
1: 36,848,046 (GRCm39) |
I1134N |
probably damaging |
Het |
| Ttc23 |
A |
G |
7: 67,342,761 (GRCm39) |
E293G |
|
Het |
| Ttc41 |
C |
A |
10: 86,548,865 (GRCm39) |
R20S |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,571,133 (GRCm39) |
V26587M |
probably damaging |
Het |
| Ugt2a2 |
T |
C |
5: 87,608,270 (GRCm39) |
K523R |
possibly damaging |
Het |
| Unc13c |
A |
G |
9: 73,656,830 (GRCm39) |
C1124R |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,175,281 (GRCm39) |
N1126K |
probably damaging |
Het |
| Usp36 |
A |
T |
11: 118,165,840 (GRCm39) |
L326Q |
probably damaging |
Het |
| Zfp568 |
T |
C |
7: 29,713,307 (GRCm39) |
M120T |
probably benign |
Het |
| Zfp944 |
T |
C |
17: 22,558,761 (GRCm39) |
D162G |
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 |
|
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 |
|
|
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'- CGTACAATCGTCTCTGGCTC -3'
(R):5'- CTGAGCTTGTCCCACTAGAAGC -3'
Sequencing Primer
(F):5'- AATCGTCTCTGGCTCTGTGCTG -3'
(R):5'- TTGTCCCACTAGAAGCCAGGAC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation