Incidental Mutation 'R9635:Dnmbp'
| ID |
725779 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnmbp
|
| Ensembl Gene |
ENSMUSG00000025195 |
| Gene Name |
dynamin binding protein |
| Synonyms |
2410003L07Rik, 2410003M15Rik, Tuba |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9635 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
43835260-43928630 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 43855974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 261
(A261S)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000026209
AA Change: A1018S
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000026209
Gene: ENSMUSG00000025195
AA Change: A1018S
| 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 |
possibly damaging
Transcript: ENSMUST00000212032
AA Change: A1014S
PolyPhen 2
Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212048
AA Change: A702S
PolyPhen 2
Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212396
AA Change: A1018S
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212592
AA Change: A261S
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
A |
T |
5: 4,100,545 (GRCm39) |
T2736S |
probably benign |
Het |
| AW209491 |
T |
C |
13: 14,811,957 (GRCm39) |
V270A |
probably benign |
Het |
| Best3 |
A |
T |
10: 116,838,450 (GRCm39) |
K169N |
probably damaging |
Het |
| Cabyr |
A |
G |
18: 12,883,816 (GRCm39) |
K101R |
probably damaging |
Het |
| Cfhr4 |
C |
T |
1: 139,701,764 (GRCm39) |
V117I |
probably damaging |
Het |
| Chd5 |
A |
T |
4: 152,461,079 (GRCm39) |
D1223V |
possibly damaging |
Het |
| Commd2 |
T |
C |
3: 57,559,064 (GRCm39) |
D4G |
probably benign |
Het |
| Cox5b-ps |
T |
C |
13: 21,685,294 (GRCm39) |
T99A |
probably benign |
Het |
| Cyp3a41a |
A |
T |
5: 145,652,320 (GRCm39) |
F60I |
possibly damaging |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Fcgbp |
A |
C |
7: 27,800,832 (GRCm39) |
T1293P |
probably benign |
Het |
| Gal3st2b |
A |
C |
1: 93,868,777 (GRCm39) |
N336T |
probably benign |
Het |
| Gm10309 |
T |
C |
17: 86,806,494 (GRCm39) |
T7A |
unknown |
Het |
| Gm10322 |
A |
T |
10: 59,451,931 (GRCm39) |
H16L |
possibly damaging |
Het |
| Gpr17 |
A |
G |
18: 32,080,199 (GRCm39) |
L288P |
probably damaging |
Het |
| Ighe |
T |
C |
12: 113,235,899 (GRCm39) |
I142M |
|
Het |
| Lrrc7 |
T |
C |
3: 157,946,138 (GRCm39) |
K187R |
probably benign |
Het |
| Lrrk2 |
T |
A |
15: 91,696,527 (GRCm39) |
D2438E |
probably benign |
Het |
| Map3k20 |
G |
A |
2: 72,232,403 (GRCm39) |
S353N |
possibly damaging |
Het |
| Moxd2 |
T |
A |
6: 40,863,000 (GRCm39) |
D102V |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,972,686 (GRCm39) |
E2120G |
possibly damaging |
Het |
| Or4f4-ps1 |
T |
A |
2: 111,330,267 (GRCm39) |
C223* |
probably null |
Het |
| Or5p79 |
A |
G |
7: 108,221,654 (GRCm39) |
I212V |
probably benign |
Het |
| Or6c5c |
T |
C |
10: 129,299,463 (GRCm39) |
V306A |
probably benign |
Het |
| Pcdhb5 |
A |
T |
18: 37,454,510 (GRCm39) |
T297S |
probably benign |
Het |
| Pdcd2l |
A |
C |
7: 33,892,356 (GRCm39) |
L171R |
possibly damaging |
Het |
| Ppp4r3b |
T |
C |
11: 29,138,113 (GRCm39) |
S154P |
probably benign |
Het |
| Prc1 |
T |
G |
7: 79,962,047 (GRCm39) |
M515R |
probably benign |
Het |
| Rbm34 |
A |
G |
8: 127,696,872 (GRCm39) |
S77P |
probably damaging |
Het |
| Samsn1 |
T |
G |
16: 75,673,457 (GRCm39) |
T140P |
probably damaging |
Het |
| Slc34a1 |
G |
A |
13: 55,556,940 (GRCm39) |
V379M |
probably damaging |
Het |
| Stab2 |
T |
A |
10: 86,686,651 (GRCm39) |
R2298* |
probably null |
Het |
| Trim10 |
G |
A |
17: 37,187,890 (GRCm39) |
V369M |
probably damaging |
Het |
| Trpv6 |
T |
C |
6: 41,599,901 (GRCm39) |
N585S |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,586,617 (GRCm39) |
D21765N |
possibly damaging |
Het |
| Ubxn6 |
A |
G |
17: 56,376,189 (GRCm39) |
L349P |
probably damaging |
Het |
| Vdac3 |
A |
T |
8: 23,077,575 (GRCm39) |
S37R |
probably damaging |
Het |
| Vmn1r124 |
G |
A |
7: 20,993,720 (GRCm39) |
L275F |
probably benign |
Het |
| Wdr17 |
A |
T |
8: 55,101,375 (GRCm39) |
I964N |
probably damaging |
Het |
| Zdhhc22 |
A |
G |
12: 87,030,396 (GRCm39) |
F184S |
possibly damaging |
Het |
| Zfp512 |
A |
G |
5: 31,623,669 (GRCm39) |
H124R |
probably benign |
Het |
| Zswim4 |
T |
C |
8: 84,939,354 (GRCm39) |
T843A |
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 |
|
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 |
|
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'- GTGCAGATTATACGCAGCTTGG -3'
(R):5'- TGGTTCCGATTTAGAGAAGCC -3'
Sequencing Primer
(F):5'- TTGGTAGCTGCAGGGCC -3'
(R):5'- ATTTAGAGAAGCCTCGCGTC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation