Incidental Mutation 'R6189:Dnmbp'
ID |
502428 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnmbp
|
Ensembl Gene |
ENSMUSG00000025195 |
Gene Name |
dynamin binding protein |
Synonyms |
2410003L07Rik, 2410003M15Rik, Tuba |
MMRRC Submission |
044329-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6189 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
43835260-43928630 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 43889950 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 606
(T606S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148708
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026209]
[ENSMUST00000212032]
[ENSMUST00000212396]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026209
AA Change: T606S
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000026209 Gene: ENSMUSG00000025195 AA Change: T606S
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
AA Change: T606S
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212396
AA Change: T606S
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
97% (74/76) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
A |
G |
17: 48,474,222 (GRCm39) |
|
probably benign |
Het |
Abca8a |
T |
C |
11: 109,921,710 (GRCm39) |
D1448G |
probably damaging |
Het |
Actn2 |
C |
T |
13: 12,291,326 (GRCm39) |
D693N |
probably damaging |
Het |
Adam3 |
A |
C |
8: 25,201,352 (GRCm39) |
I267R |
probably benign |
Het |
Aldh1l2 |
A |
G |
10: 83,343,877 (GRCm39) |
|
probably null |
Het |
C4bp |
T |
C |
1: 130,564,556 (GRCm39) |
Y376C |
probably damaging |
Het |
Cacna1h |
A |
G |
17: 25,616,818 (GRCm39) |
W101R |
probably damaging |
Het |
Ccdc97 |
T |
A |
7: 25,415,523 (GRCm39) |
T47S |
probably benign |
Het |
Cenatac |
G |
A |
9: 44,321,618 (GRCm39) |
R328C |
probably benign |
Het |
Cnot6l |
G |
A |
5: 96,246,136 (GRCm39) |
T171I |
probably benign |
Het |
Cntnap2 |
T |
A |
6: 47,248,232 (GRCm39) |
S1213T |
probably damaging |
Het |
Cxcl10 |
A |
T |
5: 92,495,972 (GRCm39) |
L55Q |
probably benign |
Het |
Cyp1a1 |
T |
C |
9: 57,607,966 (GRCm39) |
V198A |
probably damaging |
Het |
Dclre1b |
A |
G |
3: 103,710,849 (GRCm39) |
V354A |
probably damaging |
Het |
Dmxl1 |
C |
T |
18: 50,026,402 (GRCm39) |
H1837Y |
probably benign |
Het |
Dnajc13 |
G |
C |
9: 104,091,085 (GRCm39) |
D665E |
probably benign |
Het |
Dok5 |
T |
A |
2: 170,642,771 (GRCm39) |
I23N |
probably damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Epha5 |
A |
T |
5: 84,385,399 (GRCm39) |
F311I |
probably damaging |
Het |
Erbb4 |
T |
A |
1: 68,083,075 (GRCm39) |
M1059L |
probably benign |
Het |
Fbxo40 |
A |
G |
16: 36,786,526 (GRCm39) |
I681T |
probably benign |
Het |
Flg2 |
T |
A |
3: 93,127,381 (GRCm39) |
C2098S |
unknown |
Het |
Gpr87 |
T |
A |
3: 59,086,650 (GRCm39) |
D285V |
probably damaging |
Het |
Hrh1 |
T |
A |
6: 114,456,959 (GRCm39) |
V80D |
probably damaging |
Het |
Hunk |
G |
A |
16: 90,284,769 (GRCm39) |
R351K |
probably benign |
Het |
Ifna12 |
A |
G |
4: 88,521,248 (GRCm39) |
W100R |
probably damaging |
Het |
Ift57 |
G |
A |
16: 49,584,176 (GRCm39) |
G310S |
probably damaging |
Het |
Igf1r |
T |
A |
7: 67,857,084 (GRCm39) |
Y1015* |
probably null |
Het |
Igkv14-130 |
T |
C |
6: 67,768,432 (GRCm39) |
I96T |
probably damaging |
Het |
Il34 |
C |
T |
8: 111,469,350 (GRCm39) |
S155N |
probably benign |
Het |
Itga7 |
T |
C |
10: 128,786,272 (GRCm39) |
S938P |
possibly damaging |
Het |
Itgam |
A |
G |
7: 127,711,676 (GRCm39) |
M764V |
probably benign |
Het |
Lao1 |
T |
A |
4: 118,825,077 (GRCm39) |
M299K |
probably benign |
Het |
Lnpep |
A |
T |
17: 17,787,001 (GRCm39) |
S533T |
possibly damaging |
Het |
Lrp4 |
T |
C |
2: 91,305,579 (GRCm39) |
V283A |
possibly damaging |
Het |
Magi3 |
G |
T |
3: 103,958,181 (GRCm39) |
H635N |
probably damaging |
Het |
Mecr |
A |
T |
4: 131,592,565 (GRCm39) |
|
probably null |
Het |
Mgrn1 |
T |
C |
16: 4,728,674 (GRCm39) |
|
probably null |
Het |
Mical2 |
A |
C |
7: 112,012,087 (GRCm39) |
N646H |
probably damaging |
Het |
Mymk |
C |
T |
2: 26,957,377 (GRCm39) |
V39I |
possibly damaging |
Het |
Nav3 |
T |
C |
10: 109,555,880 (GRCm39) |
S1684G |
probably damaging |
Het |
Ntn5 |
A |
T |
7: 45,342,644 (GRCm39) |
D330V |
probably benign |
Het |
Nup42 |
G |
T |
5: 24,380,452 (GRCm39) |
G149V |
probably damaging |
Het |
Nutm2 |
T |
A |
13: 50,623,774 (GRCm39) |
V157D |
possibly damaging |
Het |
Obscn |
T |
C |
11: 58,960,760 (GRCm39) |
I3460V |
probably benign |
Het |
Or8u10 |
A |
T |
2: 85,915,257 (GRCm39) |
M288K |
possibly damaging |
Het |
Pakap |
A |
G |
4: 57,855,928 (GRCm39) |
E419G |
probably benign |
Het |
Pcdh15 |
C |
T |
10: 74,178,483 (GRCm39) |
A580V |
probably null |
Het |
Pcdhb10 |
T |
A |
18: 37,545,456 (GRCm39) |
H177Q |
probably damaging |
Het |
Pitx2 |
T |
C |
3: 129,012,118 (GRCm39) |
Y130H |
probably damaging |
Het |
Pmch |
G |
T |
10: 87,927,248 (GRCm39) |
|
probably null |
Het |
Pofut2 |
T |
A |
10: 77,104,420 (GRCm39) |
I399N |
probably damaging |
Het |
Prr36 |
C |
A |
8: 4,264,177 (GRCm39) |
|
probably benign |
Het |
Ptprq |
C |
A |
10: 107,353,748 (GRCm39) |
C2256F |
probably damaging |
Het |
Rassf5 |
G |
A |
1: 131,172,716 (GRCm39) |
A51V |
probably damaging |
Het |
Retnla |
A |
G |
16: 48,663,258 (GRCm39) |
I54V |
probably benign |
Het |
Rimbp2 |
A |
G |
5: 128,880,961 (GRCm39) |
L142P |
probably benign |
Het |
Ripk1 |
A |
G |
13: 34,216,484 (GRCm39) |
T564A |
probably benign |
Het |
Robo4 |
G |
A |
9: 37,314,829 (GRCm39) |
E228K |
probably benign |
Het |
Rsf1 |
GGCG |
GGCGACGGCTGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
Rusc1 |
A |
T |
3: 88,996,319 (GRCm39) |
L132Q |
probably damaging |
Het |
Serpinb9h |
A |
T |
13: 33,588,427 (GRCm39) |
E337D |
probably benign |
Het |
Setd1a |
T |
C |
7: 127,377,455 (GRCm39) |
|
probably null |
Het |
Slc38a6 |
A |
T |
12: 73,356,970 (GRCm39) |
K122M |
probably damaging |
Het |
Speer4a2 |
A |
G |
5: 26,290,691 (GRCm39) |
I160T |
probably benign |
Het |
Susd5 |
A |
T |
9: 113,924,726 (GRCm39) |
D203V |
probably damaging |
Het |
Trip4 |
G |
A |
9: 65,786,434 (GRCm39) |
R110* |
probably null |
Het |
Tuba4a |
T |
A |
1: 75,193,518 (GRCm39) |
I95F |
probably benign |
Het |
Ube2q2 |
T |
A |
9: 55,070,267 (GRCm39) |
S70T |
probably benign |
Het |
Umodl1 |
A |
G |
17: 31,215,256 (GRCm39) |
I1027V |
possibly damaging |
Het |
Unc80 |
G |
A |
1: 66,716,630 (GRCm39) |
V2917I |
probably benign |
Het |
Vmn1r70 |
T |
A |
7: 10,367,598 (GRCm39) |
C29S |
probably benign |
Het |
Vmn2r94 |
A |
T |
17: 18,477,996 (GRCm39) |
D138E |
probably benign |
Het |
Wee2 |
C |
T |
6: 40,426,617 (GRCm39) |
H129Y |
probably damaging |
Het |
Zfp318 |
TGAAGAAGAAGAAGAAGAAGAAGAAGAAG |
TGAAGAAGAAGAAGAAGAAGAAG |
17: 46,723,440 (GRCm39) |
|
probably benign |
Het |
Zfp872 |
A |
T |
9: 22,108,427 (GRCm39) |
D42V |
probably benign |
Het |
Zic5 |
T |
G |
14: 122,702,386 (GRCm39) |
D115A |
unknown |
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 |
43,878,748 (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 |
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'- ATTCCAAGTTGACCCAACAGCTG -3'
Sequencing Primer
(F):5'- AGAGTCCTCCTTCTCTGGGG -3'
(R):5'- GTTGACCCAACAGCTGATAGAGTTTG -3'
|
Posted On |
2018-02-27 |