Incidental Mutation 'R8385:Dnmbp'
| ID |
647146 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnmbp
|
| Ensembl Gene |
ENSMUSG00000025195 |
| Gene Name |
dynamin binding protein |
| Synonyms |
2410003L07Rik, 2410003M15Rik, Tuba |
| MMRRC Submission |
067751-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8385 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
43835260-43928630 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43878090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 327
(D327G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026209]
[ENSMUST00000212032]
[ENSMUST00000212048]
[ENSMUST00000212396]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026209
|
| SMART Domains |
Protein: ENSMUSP00000026209
Gene: ENSMUSG00000025195
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212048
AA Change: D327G
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212396
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brap |
C |
T |
5: 121,823,197 (GRCm39) |
T473I |
probably benign |
Het |
| Cacna1e |
T |
A |
1: 154,319,687 (GRCm39) |
M1400L |
probably damaging |
Het |
| Catsper2 |
A |
G |
2: 121,240,621 (GRCm39) |
I127T |
possibly damaging |
Het |
| Dbt |
A |
T |
3: 116,317,039 (GRCm39) |
I72F |
probably damaging |
Het |
| Ddhd2 |
T |
C |
8: 26,225,041 (GRCm39) |
H592R |
probably damaging |
Het |
| Disp2 |
T |
A |
2: 118,620,891 (GRCm39) |
M541K |
probably damaging |
Het |
| Dnai7 |
C |
T |
6: 145,120,918 (GRCm39) |
E685K |
probably damaging |
Het |
| Dvl1 |
A |
G |
4: 155,940,037 (GRCm39) |
S390G |
possibly damaging |
Het |
| Fbxo22 |
A |
G |
9: 55,121,233 (GRCm39) |
D106G |
probably damaging |
Het |
| Gfm2 |
A |
G |
13: 97,301,519 (GRCm39) |
T441A |
probably benign |
Het |
| Gm5431 |
T |
C |
11: 48,780,347 (GRCm39) |
I192V |
probably damaging |
Het |
| Gosr1 |
T |
A |
11: 76,620,967 (GRCm39) |
T241S |
possibly damaging |
Het |
| Hk2 |
T |
C |
6: 82,706,527 (GRCm39) |
S792G |
probably benign |
Het |
| Itsn1 |
A |
C |
16: 91,690,699 (GRCm39) |
K1302Q |
unknown |
Het |
| Kif16b |
T |
C |
2: 142,554,258 (GRCm39) |
K847E |
probably benign |
Het |
| Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
| Mark3 |
A |
G |
12: 111,621,808 (GRCm39) |
D650G |
possibly damaging |
Het |
| Mgat4f |
A |
G |
1: 134,318,376 (GRCm39) |
K383E |
probably benign |
Het |
| Mob3b |
T |
C |
4: 34,985,980 (GRCm39) |
Y186C |
probably damaging |
Het |
| Mphosph9 |
T |
C |
5: 124,450,785 (GRCm39) |
K329E |
probably benign |
Het |
| Mta1 |
A |
T |
12: 113,095,085 (GRCm39) |
M448L |
probably benign |
Het |
| Mterf1a |
A |
T |
5: 3,941,384 (GRCm39) |
N161K |
probably damaging |
Het |
| Myo10 |
T |
A |
15: 25,804,484 (GRCm39) |
I1593N |
probably damaging |
Het |
| Naca |
A |
G |
10: 127,878,307 (GRCm39) |
N1113S |
unknown |
Het |
| Or2w4 |
T |
C |
13: 21,795,522 (GRCm39) |
I206V |
probably benign |
Het |
| Or5e1 |
T |
G |
7: 108,354,511 (GRCm39) |
Y149* |
probably null |
Het |
| Pcdhga1 |
A |
T |
18: 37,795,149 (GRCm39) |
D51V |
probably damaging |
Het |
| Peg3 |
T |
C |
7: 6,711,082 (GRCm39) |
E1380G |
probably damaging |
Het |
| Pkd1 |
G |
A |
17: 24,794,702 (GRCm39) |
V2130M |
possibly damaging |
Het |
| Pla2g4c |
C |
T |
7: 13,063,589 (GRCm39) |
P19S |
probably benign |
Het |
| Popdc2 |
G |
A |
16: 38,183,262 (GRCm39) |
V82I |
probably benign |
Het |
| Ppfibp2 |
A |
G |
7: 107,296,894 (GRCm39) |
R203G |
probably benign |
Het |
| Rab19 |
T |
A |
6: 39,360,892 (GRCm39) |
N13K |
probably benign |
Het |
| Raet1d |
T |
A |
10: 22,246,817 (GRCm39) |
D48E |
probably benign |
Het |
| Rell1 |
T |
A |
5: 64,087,861 (GRCm39) |
K136* |
probably null |
Het |
| Slc38a4 |
A |
G |
15: 96,897,393 (GRCm39) |
I474T |
probably damaging |
Het |
| Slf1 |
T |
C |
13: 77,254,109 (GRCm39) |
M243V |
probably benign |
Het |
| Spata31f1a |
C |
T |
4: 42,850,509 (GRCm39) |
R549H |
possibly damaging |
Het |
| Speer4c2 |
A |
T |
5: 15,857,669 (GRCm39) |
S203T |
unknown |
Het |
| Spg11 |
A |
T |
2: 121,927,802 (GRCm39) |
S661T |
probably benign |
Het |
| Thra |
C |
G |
11: 98,659,177 (GRCm39) |
S435R |
probably benign |
Het |
| Tmem181a |
T |
C |
17: 6,339,274 (GRCm39) |
I61T |
probably benign |
Het |
| Ttpa |
G |
A |
4: 20,028,483 (GRCm39) |
G247S |
probably damaging |
Het |
| Usp17lb |
C |
T |
7: 104,489,830 (GRCm39) |
V366I |
possibly damaging |
Het |
| Vit |
A |
T |
17: 78,927,066 (GRCm39) |
Q337L |
probably benign |
Het |
| Vmn2r102 |
A |
G |
17: 19,914,088 (GRCm39) |
Y551C |
possibly damaging |
Het |
| Vps52 |
T |
C |
17: 34,181,791 (GRCm39) |
L539P |
probably damaging |
Het |
| Ythdc1 |
C |
A |
5: 86,975,961 (GRCm39) |
P529T |
possibly damaging |
Het |
| Zdhhc13 |
T |
C |
7: 48,455,444 (GRCm39) |
|
probably null |
Het |
| Zfp282 |
A |
T |
6: 47,882,023 (GRCm39) |
Y570F |
possibly damaging |
Het |
| Zfp872 |
A |
T |
9: 22,111,407 (GRCm39) |
K295N |
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 |
|
|
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'- GTGCCAGGGACTTTCTAGTG -3'
(R):5'- TTATACCAACGGCGAGTCTCTG -3'
Sequencing Primer
(F):5'- ACTTTCTAGTGTAGGGGCCCC -3'
(R):5'- GGAGCGTCCAGATTTGAATGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation