Incidental Mutation 'R9628:Dnmbp'
| ID |
725312 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnmbp
|
| Ensembl Gene |
ENSMUSG00000025195 |
| Gene Name |
dynamin binding protein |
| Synonyms |
2410003M15Rik, 2410003L07Rik, Tuba |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9628 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
43846821-43940191 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43870207 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 132
(D132V)
|
| 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 |
probably damaging
Transcript: ENSMUST00000026209
AA Change: D895V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026209
Gene: ENSMUSG00000025195
AA Change: D895V
| 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: D885V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212048
AA Change: D573V
PolyPhen 2
Score 0.470 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212396
AA Change: D895V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212592
AA Change: D132V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
T |
C |
16: 56,732,830 (GRCm38) |
N635D |
probably damaging |
Het |
| Ankrd13c |
G |
C |
3: 157,947,676 (GRCm38) |
K50N |
probably benign |
Het |
| Arhgef38 |
T |
C |
3: 133,132,264 (GRCm38) |
Y635C |
unknown |
Het |
| Avl9 |
T |
A |
6: 56,736,475 (GRCm38) |
Y239* |
probably null |
Het |
| C2cd3 |
T |
A |
7: 100,448,754 (GRCm38) |
H1449Q |
|
Het |
| Ccdc141 |
G |
A |
2: 77,014,494 (GRCm38) |
P1410S |
probably damaging |
Het |
| Ccz1 |
G |
A |
5: 143,988,225 (GRCm38) |
T471M |
possibly damaging |
Het |
| Cdh26 |
T |
C |
2: 178,441,420 (GRCm38) |
S27P |
|
Het |
| Cdk11b |
T |
G |
4: 155,649,697 (GRCm38) |
D756E |
unknown |
Het |
| Celsr3 |
C |
A |
9: 108,826,360 (GRCm38) |
S14* |
probably null |
Het |
| Cntrob |
T |
C |
11: 69,322,956 (GRCm38) |
T3A |
possibly damaging |
Het |
| Cracd |
A |
G |
5: 76,857,076 (GRCm38) |
E428G |
unknown |
Het |
| Csde1 |
T |
C |
3: 103,055,509 (GRCm38) |
V738A |
probably benign |
Het |
| Dazap1 |
T |
C |
10: 80,283,165 (GRCm38) |
Y230H |
unknown |
Het |
| Dip2a |
A |
G |
10: 76,307,159 (GRCm38) |
I264T |
probably damaging |
Het |
| Dleu7 |
C |
A |
14: 62,292,695 (GRCm38) |
A86S |
possibly damaging |
Het |
| Dppa4 |
T |
C |
16: 48,291,309 (GRCm38) |
V219A |
probably benign |
Het |
| Dsg1c |
T |
A |
18: 20,264,316 (GRCm38) |
I27N |
probably damaging |
Het |
| Egr4 |
T |
C |
6: 85,512,310 (GRCm38) |
Y256C |
probably benign |
Het |
| Ess2 |
A |
T |
16: 17,902,893 (GRCm38) |
M363K |
probably damaging |
Het |
| Fam124a |
A |
G |
14: 62,587,561 (GRCm38) |
E168G |
probably damaging |
Het |
| Gata4 |
T |
C |
14: 63,241,096 (GRCm38) |
Y18C |
probably damaging |
Het |
| Gckr |
C |
A |
5: 31,300,590 (GRCm38) |
A147D |
probably damaging |
Het |
| H1f8 |
G |
A |
6: 115,947,739 (GRCm38) |
V69I |
probably damaging |
Het |
| Hook1 |
T |
C |
4: 96,013,323 (GRCm38) |
L506P |
probably damaging |
Het |
| Hormad2 |
G |
A |
11: 4,427,372 (GRCm38) |
P22L |
probably damaging |
Het |
| Larp1b |
T |
C |
3: 40,961,668 (GRCm38) |
|
probably null |
Het |
| Ldhb |
T |
C |
6: 142,494,136 (GRCm38) |
E226G |
probably damaging |
Het |
| Lpar5 |
T |
G |
6: 125,081,985 (GRCm38) |
V223G |
probably damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,503,504 (GRCm38) |
V365A |
probably benign |
Het |
| Lrrtm3 |
T |
C |
10: 64,087,997 (GRCm38) |
K464E |
probably damaging |
Het |
| Ly75 |
A |
G |
2: 60,327,941 (GRCm38) |
I1000T |
probably damaging |
Het |
| Myo1d |
C |
A |
11: 80,557,470 (GRCm38) |
G943V |
possibly damaging |
Het |
| Nicn1 |
C |
T |
9: 108,294,509 (GRCm38) |
R163C |
possibly damaging |
Het |
| Nphp4 |
T |
C |
4: 152,484,509 (GRCm38) |
L35P |
probably damaging |
Het |
| Nptx2 |
G |
A |
5: 144,553,451 (GRCm38) |
R230H |
probably benign |
Het |
| Ntsr1 |
G |
A |
2: 180,541,481 (GRCm38) |
R328H |
probably damaging |
Het |
| Or1e25 |
G |
A |
11: 73,603,038 (GRCm38) |
V153I |
probably benign |
Het |
| Or4c111 |
A |
G |
2: 89,013,326 (GRCm38) |
V246A |
probably damaging |
Het |
| Or8b1 |
T |
G |
9: 38,488,575 (GRCm38) |
L182R |
probably benign |
Het |
| Padi6 |
G |
A |
4: 140,737,315 (GRCm38) |
T201I |
probably damaging |
Het |
| Plscr4 |
C |
T |
9: 92,472,932 (GRCm38) |
T13I |
possibly damaging |
Het |
| Ppp6r1 |
G |
A |
7: 4,633,113 (GRCm38) |
A782V |
probably benign |
Het |
| Rab18 |
G |
A |
18: 6,788,647 (GRCm38) |
V205M |
probably benign |
Het |
| Rhobtb1 |
T |
C |
10: 69,270,823 (GRCm38) |
V468A |
probably damaging |
Het |
| Rhox8 |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
X: 37,878,114 (GRCm38) |
|
probably benign |
Het |
| Scaf11 |
A |
T |
15: 96,419,517 (GRCm38) |
I722N |
probably benign |
Het |
| Slc17a4 |
A |
G |
13: 23,905,529 (GRCm38) |
V135A |
possibly damaging |
Het |
| Slc30a5 |
A |
G |
13: 100,824,914 (GRCm38) |
|
probably null |
Het |
| Slc5a6 |
T |
C |
5: 31,040,402 (GRCm38) |
Y321C |
probably benign |
Het |
| Spag7 |
A |
T |
11: 70,664,360 (GRCm38) |
D178E |
probably benign |
Het |
| Swsap1 |
T |
G |
9: 21,955,876 (GRCm38) |
S39A |
|
Het |
| Tank |
A |
G |
2: 61,653,532 (GRCm38) |
T441A |
probably benign |
Het |
| Tor1aip1 |
C |
A |
1: 156,017,574 (GRCm38) |
G276* |
probably null |
Het |
| Usp47 |
G |
A |
7: 112,106,792 (GRCm38) |
M1220I |
probably benign |
Het |
| Vmn1r43 |
G |
A |
6: 89,869,895 (GRCm38) |
T203M |
probably damaging |
Het |
| Vmn2r35 |
A |
G |
7: 7,812,703 (GRCm38) |
V489A |
probably benign |
Het |
| Wif1 |
T |
C |
10: 121,096,644 (GRCm38) |
V309A |
possibly damaging |
Het |
| Xpo4 |
T |
C |
14: 57,605,173 (GRCm38) |
N434D |
probably damaging |
Het |
| Zfp462 |
A |
T |
4: 55,009,423 (GRCm38) |
H463L |
probably benign |
Het |
|
| Other mutations in Dnmbp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00477:Dnmbp
|
APN |
19 |
43,902,479 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01301:Dnmbp
|
APN |
19 |
43,902,354 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL01443:Dnmbp
|
APN |
19 |
43,902,870 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01569:Dnmbp
|
APN |
19 |
43,874,856 (GRCm38) |
missense |
probably benign |
0.14 |
|
IGL01818:Dnmbp
|
APN |
19 |
43,901,165 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01989:Dnmbp
|
APN |
19 |
43,867,555 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02111:Dnmbp
|
APN |
19 |
43,867,555 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02666:Dnmbp
|
APN |
19 |
43,854,127 (GRCm38) |
splice site |
probably benign |
|
|
IGL02736:Dnmbp
|
APN |
19 |
43,849,770 (GRCm38) |
splice site |
probably benign |
|
|
ANU18:Dnmbp
|
UTSW |
19 |
43,902,354 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0013:Dnmbp
|
UTSW |
19 |
43,902,231 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0013:Dnmbp
|
UTSW |
19 |
43,902,231 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0032:Dnmbp
|
UTSW |
19 |
43,902,719 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0032:Dnmbp
|
UTSW |
19 |
43,902,719 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0101:Dnmbp
|
UTSW |
19 |
43,874,160 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0129:Dnmbp
|
UTSW |
19 |
43,850,027 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0288:Dnmbp
|
UTSW |
19 |
43,902,459 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R0322:Dnmbp
|
UTSW |
19 |
43,854,846 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0426:Dnmbp
|
UTSW |
19 |
43,852,436 (GRCm38) |
splice site |
probably benign |
|
|
R0432:Dnmbp
|
UTSW |
19 |
43,854,857 (GRCm38) |
nonsense |
probably null |
|
|
R0497:Dnmbp
|
UTSW |
19 |
43,856,640 (GRCm38) |
splice site |
probably benign |
|
|
R1306:Dnmbp
|
UTSW |
19 |
43,901,779 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1765:Dnmbp
|
UTSW |
19 |
43,902,140 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R1800:Dnmbp
|
UTSW |
19 |
43,901,720 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1846:Dnmbp
|
UTSW |
19 |
43,902,747 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1916:Dnmbp
|
UTSW |
19 |
43,901,568 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R2001:Dnmbp
|
UTSW |
19 |
43,850,173 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R2131:Dnmbp
|
UTSW |
19 |
43,854,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2156:Dnmbp
|
UTSW |
19 |
43,901,907 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R2238:Dnmbp
|
UTSW |
19 |
43,868,864 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R2372:Dnmbp
|
UTSW |
19 |
43,902,320 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4817:Dnmbp
|
UTSW |
19 |
43,849,972 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5093:Dnmbp
|
UTSW |
19 |
43,849,876 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5249:Dnmbp
|
UTSW |
19 |
43,902,440 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5970:Dnmbp
|
UTSW |
19 |
43,854,171 (GRCm38) |
missense |
probably benign |
0.28 |
|
R6168:Dnmbp
|
UTSW |
19 |
43,850,240 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6189:Dnmbp
|
UTSW |
19 |
43,901,511 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6189:Dnmbp
|
UTSW |
19 |
43,890,309 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6239:Dnmbp
|
UTSW |
19 |
43,848,185 (GRCm38) |
missense |
probably benign |
0.11 |
|
R6256:Dnmbp
|
UTSW |
19 |
43,852,281 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6461:Dnmbp
|
UTSW |
19 |
43,867,525 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6599:Dnmbp
|
UTSW |
19 |
43,856,586 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6704:Dnmbp
|
UTSW |
19 |
43,901,213 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7350:Dnmbp
|
UTSW |
19 |
43,901,505 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7355:Dnmbp
|
UTSW |
19 |
43,901,741 (GRCm38) |
missense |
probably benign |
|
|
R7409:Dnmbp
|
UTSW |
19 |
43,890,557 (GRCm38) |
missense |
unknown |
|
|
R7548:Dnmbp
|
UTSW |
19 |
43,889,399 (GRCm38) |
missense |
probably benign |
0.40 |
|
R7755:Dnmbp
|
UTSW |
19 |
43,850,086 (GRCm38) |
missense |
probably benign |
|
|
R7814:Dnmbp
|
UTSW |
19 |
43,854,176 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7954:Dnmbp
|
UTSW |
19 |
43,902,303 (GRCm38) |
missense |
probably benign |
|
|
R7955:Dnmbp
|
UTSW |
19 |
43,902,323 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8282:Dnmbp
|
UTSW |
19 |
43,890,566 (GRCm38) |
missense |
unknown |
|
|
R8385:Dnmbp
|
UTSW |
19 |
43,889,651 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8696:Dnmbp
|
UTSW |
19 |
43,874,223 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8738:Dnmbp
|
UTSW |
19 |
43,912,238 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8819:Dnmbp
|
UTSW |
19 |
43,901,415 (GRCm38) |
missense |
probably benign |
0.43 |
|
R8824:Dnmbp
|
UTSW |
19 |
43,849,837 (GRCm38) |
missense |
probably benign |
|
|
R8902:Dnmbp
|
UTSW |
19 |
43,901,786 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8906:Dnmbp
|
UTSW |
19 |
43,890,242 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8977:Dnmbp
|
UTSW |
19 |
43,852,312 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9635:Dnmbp
|
UTSW |
19 |
43,867,535 (GRCm38) |
missense |
probably benign |
0.39 |
|
R9771:Dnmbp
|
UTSW |
19 |
43,866,592 (GRCm38) |
missense |
probably damaging |
0.96 |
|
Z1088:Dnmbp
|
UTSW |
19 |
43,902,122 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1088:Dnmbp
|
UTSW |
19 |
43,874,984 (GRCm38) |
missense |
probably benign |
0.01 |
|
Z1176:Dnmbp
|
UTSW |
19 |
43,889,367 (GRCm38) |
missense |
probably benign |
0.12 |
|
Z1176:Dnmbp
|
UTSW |
19 |
43,866,688 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACACAATTGGGAAGTCACC -3'
(R):5'- TCAGACTTGAATGGCCATACC -3'
Sequencing Primer
(F):5'- CAATTGGGAAGTCACCTAAGATTTC -3'
(R):5'- GGCCATACCATTTGTTGATATACTC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation