Incidental Mutation 'R7350:Dnmbp'
ID |
570546 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnmbp
|
Ensembl Gene |
ENSMUSG00000025195 |
Gene Name |
dynamin binding protein |
Synonyms |
2410003L07Rik, 2410003M15Rik, Tuba |
MMRRC Submission |
045436-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7350 (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 43889944 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 608
(R608G)
|
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 damaging
Transcript: ENSMUST00000026209
AA Change: R608G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000026209 Gene: ENSMUSG00000025195 AA Change: R608G
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: R608G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212396
AA Change: R608G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abraxas2 |
T |
C |
7: 132,476,578 (GRCm39) |
F106S |
probably damaging |
Het |
Acsf3 |
A |
G |
8: 123,512,685 (GRCm39) |
T369A |
probably benign |
Het |
Adgrf5 |
G |
A |
17: 43,739,335 (GRCm39) |
|
probably null |
Het |
Aff1 |
T |
A |
5: 103,994,958 (GRCm39) |
I1052K |
probably benign |
Het |
Akap8 |
T |
C |
17: 32,535,549 (GRCm39) |
D155G |
possibly damaging |
Het |
Alg10b |
A |
T |
15: 90,111,653 (GRCm39) |
M166L |
probably benign |
Het |
Allc |
T |
A |
12: 28,613,408 (GRCm39) |
Q178L |
possibly damaging |
Het |
Angptl4 |
C |
A |
17: 33,996,084 (GRCm39) |
L297F |
probably damaging |
Het |
Arfgap1 |
A |
G |
2: 180,612,869 (GRCm39) |
K8E |
possibly damaging |
Het |
Bckdhb |
T |
A |
9: 83,892,379 (GRCm39) |
V270E |
possibly damaging |
Het |
Cbx3 |
T |
C |
6: 51,452,355 (GRCm39) |
|
probably null |
Het |
Cd44 |
G |
T |
2: 102,664,607 (GRCm39) |
N531K |
probably benign |
Het |
Cdh23 |
A |
T |
10: 60,246,689 (GRCm39) |
D916E |
probably damaging |
Het |
Cr2 |
A |
G |
1: 194,837,594 (GRCm39) |
V792A |
probably benign |
Het |
Cstf3 |
T |
C |
2: 104,439,301 (GRCm39) |
L38P |
probably damaging |
Het |
Cyp2a5 |
A |
G |
7: 26,536,208 (GRCm39) |
E151G |
probably benign |
Het |
Dbr1 |
T |
C |
9: 99,464,602 (GRCm39) |
F127S |
|
Het |
Ddit4 |
A |
T |
10: 59,787,317 (GRCm39) |
D6E |
probably damaging |
Het |
Disc1 |
G |
C |
8: 125,891,841 (GRCm39) |
R631S |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,235,965 (GRCm39) |
|
probably null |
Het |
Dnah9 |
T |
C |
11: 65,971,404 (GRCm39) |
K1595E |
probably damaging |
Het |
Efcab5 |
G |
C |
11: 77,028,387 (GRCm39) |
P315A |
probably benign |
Het |
Eif4a2 |
A |
G |
16: 22,932,012 (GRCm39) |
Y392C |
possibly damaging |
Het |
F5 |
G |
T |
1: 164,020,277 (GRCm39) |
K917N |
probably benign |
Het |
Fig4 |
T |
C |
10: 41,127,752 (GRCm39) |
M571V |
probably benign |
Het |
Flot2 |
T |
A |
11: 77,948,802 (GRCm39) |
I259N |
probably damaging |
Het |
Gm8122 |
C |
A |
14: 43,088,058 (GRCm39) |
|
probably null |
Het |
Gpr152 |
T |
C |
19: 4,192,963 (GRCm39) |
V168A |
possibly damaging |
Het |
H1f0 |
G |
A |
15: 78,913,103 (GRCm39) |
G61D |
probably damaging |
Het |
Ihh |
T |
A |
1: 74,987,492 (GRCm39) |
K183M |
probably damaging |
Het |
Itga2 |
A |
G |
13: 114,973,738 (GRCm39) |
L1116P |
probably damaging |
Het |
Kcnj10 |
A |
G |
1: 172,196,827 (GRCm39) |
T114A |
possibly damaging |
Het |
Kcnk3 |
T |
G |
5: 30,779,310 (GRCm39) |
L120R |
probably damaging |
Het |
Krt14 |
C |
A |
11: 100,095,926 (GRCm39) |
E211* |
probably null |
Het |
Lars2 |
T |
C |
9: 123,256,545 (GRCm39) |
L350P |
probably damaging |
Het |
Lrba |
T |
C |
3: 86,259,209 (GRCm39) |
I1408T |
probably damaging |
Het |
Lrrc27 |
A |
G |
7: 138,806,022 (GRCm39) |
E229G |
probably benign |
Het |
Lrrc8e |
G |
T |
8: 4,285,626 (GRCm39) |
R617L |
probably benign |
Het |
M1ap |
A |
G |
6: 82,958,930 (GRCm39) |
D187G |
probably benign |
Het |
Marchf1 |
A |
T |
8: 66,921,051 (GRCm39) |
K243* |
probably null |
Het |
Med16 |
C |
T |
10: 79,739,031 (GRCm39) |
V252M |
probably damaging |
Het |
Micu3 |
T |
C |
8: 40,801,999 (GRCm39) |
S189P |
probably benign |
Het |
Mier2 |
C |
A |
10: 79,376,132 (GRCm39) |
M264I |
unknown |
Het |
Mindy4 |
A |
T |
6: 55,278,010 (GRCm39) |
N618I |
probably damaging |
Het |
Mmrn1 |
C |
T |
6: 60,953,320 (GRCm39) |
Q534* |
probably null |
Het |
Mroh9 |
C |
T |
1: 162,903,858 (GRCm39) |
|
probably null |
Het |
Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
Mta3 |
T |
A |
17: 84,015,870 (GRCm39) |
I24N |
probably damaging |
Het |
Mtmr4 |
A |
T |
11: 87,491,476 (GRCm39) |
H147L |
probably damaging |
Het |
Nfam1 |
T |
C |
15: 82,894,640 (GRCm39) |
K155R |
probably benign |
Het |
Nlrp6 |
A |
T |
7: 140,501,191 (GRCm39) |
|
probably benign |
Het |
Or1q1 |
T |
A |
2: 36,886,873 (GRCm39) |
I17N |
possibly damaging |
Het |
Or5d37 |
A |
T |
2: 87,923,542 (GRCm39) |
F246Y |
probably benign |
Het |
Or5w20 |
T |
C |
2: 87,726,753 (GRCm39) |
|
probably benign |
Het |
Or6d13 |
A |
G |
6: 116,517,495 (GRCm39) |
E27G |
probably benign |
Het |
Or9g4 |
A |
G |
2: 85,505,189 (GRCm39) |
F102S |
|
Het |
P4ha1 |
A |
G |
10: 59,186,240 (GRCm39) |
R240G |
probably damaging |
Het |
Pla2r1 |
G |
T |
2: 60,288,723 (GRCm39) |
D636E |
probably benign |
Het |
Polr2a |
A |
G |
11: 69,631,886 (GRCm39) |
L1060P |
possibly damaging |
Het |
Prr35 |
A |
T |
17: 26,165,685 (GRCm39) |
V534D |
probably damaging |
Het |
Ptgdr2 |
C |
A |
19: 10,918,319 (GRCm39) |
Q279K |
probably benign |
Het |
Rab11fip2 |
T |
A |
19: 59,925,853 (GRCm39) |
R121S |
probably benign |
Het |
Rasa2 |
T |
C |
9: 96,426,408 (GRCm39) |
S813G |
probably benign |
Het |
Rassf5 |
T |
C |
1: 131,106,273 (GRCm39) |
K411E |
possibly damaging |
Het |
Reep4 |
T |
C |
14: 70,783,987 (GRCm39) |
Y35H |
probably damaging |
Het |
Ror1 |
A |
T |
4: 100,283,140 (GRCm39) |
M402L |
probably benign |
Het |
Slc32a1 |
A |
G |
2: 158,456,326 (GRCm39) |
E327G |
probably damaging |
Het |
Spen |
C |
T |
4: 141,206,696 (GRCm39) |
E644K |
unknown |
Het |
Tars3 |
C |
G |
7: 65,308,672 (GRCm39) |
Q281E |
probably damaging |
Het |
Tcl1 |
A |
G |
12: 105,184,934 (GRCm39) |
I92T |
probably damaging |
Het |
Tifab |
A |
G |
13: 56,324,120 (GRCm39) |
S108P |
probably damaging |
Het |
Traf1 |
T |
C |
2: 34,838,245 (GRCm39) |
N198D |
probably benign |
Het |
Trim35 |
T |
C |
14: 66,546,654 (GRCm39) |
Y474H |
probably damaging |
Het |
Trim54 |
T |
A |
5: 31,294,505 (GRCm39) |
D344E |
probably benign |
Het |
Ttc28 |
A |
T |
5: 111,373,903 (GRCm39) |
H1113L |
probably damaging |
Het |
Vcam1 |
T |
A |
3: 115,908,211 (GRCm39) |
D617V |
probably damaging |
Het |
Vmn2r81 |
A |
T |
10: 79,104,219 (GRCm39) |
T281S |
probably benign |
Het |
Whrn |
C |
T |
4: 63,350,196 (GRCm39) |
R507K |
possibly damaging |
Het |
Zdhhc14 |
A |
G |
17: 5,777,151 (GRCm39) |
S303G |
probably benign |
Het |
Zfp292 |
A |
T |
4: 34,806,839 (GRCm39) |
N2073K |
probably benign |
Het |
Zgpat |
T |
A |
2: 181,022,228 (GRCm39) |
V163D |
|
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 |
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'- TCCATGTGCTCAGAGTCCTC -3'
(R):5'- TAGATTCCAAGTTGACCCAACAGC -3'
Sequencing Primer
(F):5'- AGAGTCCTCCTTCTCTGGGG -3'
(R):5'- GTTGACCCAACAGCTGATAGAGTTTG -3'
|
Posted On |
2019-09-13 |