Incidental Mutation 'R5970:Dnmbp'
| ID |
470835 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnmbp
|
| Ensembl Gene |
ENSMUSG00000025195 |
| Gene Name |
dynamin binding protein |
| Synonyms |
2410003M15Rik, 2410003L07Rik, Tuba |
| MMRRC Submission |
044153-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5970 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
43846821-43940191 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43854171 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 1253
(T1253S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026209]
[ENSMUST00000212032]
[ENSMUST00000212048]
[ENSMUST00000212396]
[ENSMUST00000212592]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026209
AA Change: T1257S
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000026209
Gene: ENSMUSG00000025195
AA Change: T1257S
| 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 |
noncoding transcript
Transcript: ENSMUST00000157865
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212032
AA Change: T1253S
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212048
AA Change: T941S
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212396
AA Change: T1257S
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212592
AA Change: T500S
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
98% (63/64) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l1 |
G |
A |
6: 90,597,046 (GRCm38) |
|
probably benign |
Het |
| Ambn |
T |
C |
5: 88,467,951 (GRCm38) |
V413A |
possibly damaging |
Het |
| Amotl1 |
T |
A |
9: 14,596,528 (GRCm38) |
D41V |
probably damaging |
Het |
| Arhgef26 |
T |
C |
3: 62,340,047 (GRCm38) |
V184A |
probably benign |
Het |
| Birc6 |
G |
T |
17: 74,618,502 (GRCm38) |
G936V |
possibly damaging |
Het |
| Ccser1 |
T |
A |
6: 61,311,242 (GRCm38) |
S130T |
possibly damaging |
Het |
| Cecr2 |
A |
G |
6: 120,720,907 (GRCm38) |
I56V |
probably damaging |
Het |
| Cfap52 |
A |
G |
11: 67,930,744 (GRCm38) |
I486T |
probably damaging |
Het |
| Col4a3 |
A |
G |
1: 82,716,329 (GRCm38) |
I1557V |
possibly damaging |
Het |
| Col6a5 |
T |
A |
9: 105,945,847 (GRCm38) |
I104F |
unknown |
Het |
| Cry2 |
A |
G |
2: 92,412,967 (GRCm38) |
S510P |
probably benign |
Het |
| Csmd2 |
G |
C |
4: 128,546,151 (GRCm38) |
A3133P |
probably benign |
Het |
| Cyld |
G |
T |
8: 88,732,993 (GRCm38) |
A611S |
probably damaging |
Het |
| Dennd4c |
G |
A |
4: 86,825,512 (GRCm38) |
G1197E |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,808,729 (GRCm38) |
F2969L |
probably benign |
Het |
| Dnaic1 |
A |
G |
4: 41,625,281 (GRCm38) |
K415R |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,195,702 (GRCm38) |
L1542P |
possibly damaging |
Het |
| Duox1 |
T |
A |
2: 122,340,201 (GRCm38) |
L1234Q |
probably damaging |
Het |
| Efr3b |
T |
A |
12: 3,968,590 (GRCm38) |
R585S |
possibly damaging |
Het |
| Gpt |
A |
G |
15: 76,699,352 (GRCm38) |
|
probably null |
Het |
| Heatr6 |
G |
A |
11: 83,753,718 (GRCm38) |
|
probably benign |
Het |
| Kcns2 |
A |
G |
15: 34,839,784 (GRCm38) |
D431G |
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,829,289 (GRCm38) |
N1543D |
probably damaging |
Het |
| Man2a1 |
A |
G |
17: 64,625,380 (GRCm38) |
K154R |
probably benign |
Het |
| Mical3 |
G |
A |
6: 120,958,271 (GRCm38) |
Q893* |
probably null |
Het |
| Morc3 |
C |
T |
16: 93,866,453 (GRCm38) |
H515Y |
possibly damaging |
Het |
| Mprip |
A |
T |
11: 59,757,721 (GRCm38) |
R750S |
probably damaging |
Het |
| Mroh1 |
G |
A |
15: 76,451,491 (GRCm38) |
V1436M |
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,790,669 (GRCm38) |
R69* |
probably null |
Het |
| Muc5b |
A |
T |
7: 141,856,712 (GRCm38) |
Y1274F |
unknown |
Het |
| Mybpc1 |
A |
G |
10: 88,542,456 (GRCm38) |
L674P |
probably damaging |
Het |
| Mypn |
A |
G |
10: 63,131,023 (GRCm38) |
V958A |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,296,818 (GRCm38) |
T2436A |
probably benign |
Het |
| Olfr835 |
A |
G |
9: 19,035,147 (GRCm38) |
D8G |
probably benign |
Het |
| Pcdhb5 |
T |
A |
18: 37,321,773 (GRCm38) |
L402Q |
probably damaging |
Het |
| Pigp |
T |
A |
16: 94,370,194 (GRCm38) |
|
probably null |
Het |
| Rp1 |
A |
G |
1: 4,348,462 (GRCm38) |
L809P |
probably benign |
Het |
| Scn3a |
T |
A |
2: 65,494,781 (GRCm38) |
|
probably benign |
Het |
| Sdf2 |
A |
T |
11: 78,246,080 (GRCm38) |
M29L |
probably benign |
Het |
| Serpina3b |
T |
G |
12: 104,134,091 (GRCm38) |
L311V |
possibly damaging |
Het |
| Snx31 |
A |
T |
15: 36,523,488 (GRCm38) |
Y349* |
probably null |
Het |
| Spidr |
A |
C |
16: 16,114,869 (GRCm38) |
C182W |
probably damaging |
Het |
| St13 |
A |
T |
15: 81,377,798 (GRCm38) |
S146R |
probably damaging |
Het |
| St8sia4 |
A |
G |
1: 95,653,582 (GRCm38) |
V145A |
probably damaging |
Het |
| Stradb |
T |
C |
1: 58,980,016 (GRCm38) |
|
probably null |
Het |
| Tcp11l2 |
T |
A |
10: 84,594,797 (GRCm38) |
|
probably benign |
Het |
| Tfdp2 |
C |
T |
9: 96,317,574 (GRCm38) |
P74S |
unknown |
Het |
| Tmprss15 |
C |
T |
16: 79,057,659 (GRCm38) |
R287H |
probably benign |
Het |
| Trav10d |
T |
C |
14: 52,811,322 (GRCm38) |
Y57H |
probably damaging |
Het |
| Vmn2r104 |
A |
G |
17: 20,029,471 (GRCm38) |
I846T |
probably benign |
Het |
| Ywhah |
T |
A |
5: 33,026,948 (GRCm38) |
M165K |
possibly damaging |
Het |
| Zfp324 |
C |
A |
7: 12,969,366 (GRCm38) |
P72T |
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 |
|
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 |
|
R9628:Dnmbp
|
UTSW |
19 |
43,870,207 (GRCm38) |
missense |
probably damaging |
0.99 |
|
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'- CAGAAGCACAGCAGCTGTTC -3'
(R):5'- TCTAAAGACTTGGGCCAGGG -3'
Sequencing Primer
(F):5'- CATGGTGCTCACGTGCTG -3'
(R):5'- CCAGGGGTCCTTCATCTGTG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation