Incidental Mutation 'R6599:Dnmbp'
ID 525161
Institutional Source Beutler Lab
Gene Symbol Dnmbp
Ensembl Gene ENSMUSG00000025195
Gene Name dynamin binding protein
Synonyms 2410003L07Rik, 2410003M15Rik, Tuba
MMRRC Submission 044723-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6599 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 43835260-43928630 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43845025 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1070 (D1070E)
Ref Sequence ENSEMBL: ENSMUSP00000148582 (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: D1070E

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000026209
Gene: ENSMUSG00000025195
AA Change: D1070E

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000212032
AA Change: D1066E

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000212048
AA Change: D754E

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably damaging
Transcript: ENSMUST00000212396
AA Change: D1070E

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000212592
AA Change: D313E

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
Meta Mutation Damage Score 0.1093 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 95.9%
Validation Efficiency 94% (32/34)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T C 3: 137,882,250 (GRCm39) H150R probably benign Het
Acbd5 C T 2: 22,959,092 (GRCm39) probably benign Het
Adcyap1r1 G A 6: 55,456,979 (GRCm39) V237M probably damaging Het
Akr1c6 T G 13: 4,499,318 (GRCm39) probably null Het
Ccdc7b T A 8: 129,893,462 (GRCm39) F96L probably benign Het
Cubn T C 2: 13,315,484 (GRCm39) H2983R possibly damaging Het
Dhx40 T A 11: 86,695,175 (GRCm39) I112L possibly damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Ep300 G C 15: 81,470,914 (GRCm39) D29H unknown Het
Exoc3 T C 13: 74,337,277 (GRCm39) probably null Het
Fcsk A T 8: 111,619,915 (GRCm39) probably null Het
Gm6401 C A 14: 41,788,821 (GRCm39) E83* probably null Het
Gm8267 G T 14: 44,955,367 (GRCm39) T218K possibly damaging Het
H1f3 T C 13: 23,739,451 (GRCm39) probably null Het
Hif3a T A 7: 16,776,530 (GRCm39) D470V possibly damaging Het
Igf2r T C 17: 12,917,505 (GRCm39) S1526G possibly damaging Het
Lrp2 T C 2: 69,299,749 (GRCm39) D3101G probably damaging Het
Megf6 A G 4: 154,342,544 (GRCm39) probably null Het
Mthfs G A 9: 89,121,961 (GRCm39) G149D probably damaging Het
Nnmt T C 9: 48,514,669 (GRCm39) D116G probably benign Het
Nqo2 T C 13: 34,163,539 (GRCm39) F22S probably damaging Het
Or1e29 T A 11: 73,667,506 (GRCm39) M216L probably benign Het
Or7e175 T C 9: 20,049,239 (GRCm39) S276P probably damaging Het
Parm1 T C 5: 91,741,718 (GRCm39) S29P possibly damaging Het
Prokr2 C T 2: 132,215,469 (GRCm39) V331M possibly damaging Het
Ptch1 T A 13: 63,670,918 (GRCm39) I871F probably damaging Het
Rps6ka5 C A 12: 100,564,168 (GRCm39) G227V probably damaging Het
Tcaim C T 9: 122,663,844 (GRCm39) Q445* probably null Het
Trappc14 G T 5: 138,261,720 (GRCm39) probably null Het
Trpc7 T C 13: 56,958,193 (GRCm39) probably null Het
Ubxn7 A G 16: 32,203,743 (GRCm39) E465G probably damaging Het
Unk G A 11: 115,938,628 (GRCm39) R77Q probably damaging Het
Vmn1r226 A T 17: 20,908,551 (GRCm39) N261I probably benign Het
Vmn1r87 T A 7: 12,865,886 (GRCm39) K134* probably null Het
Vmn2r10 T A 5: 109,143,944 (GRCm39) I669L probably benign Het
Vmn2r115 A G 17: 23,565,006 (GRCm39) I298V probably benign Het
Yipf2 T C 9: 21,501,144 (GRCm39) K85E probably damaging Het
Zfp979 A T 4: 147,698,083 (GRCm39) C209S probably benign Het
Other mutations in Dnmbp
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CTCAAAACCTGATGCCTCTGC -3'
(R):5'- AAGGCATGCTTGTTTCCGAG -3'

Sequencing Primer
(F):5'- AAACCTGATGCCTCTGCCTCTG -3'
(R):5'- TCCGAGTGGAAAGACTGCC -3'
Posted On 2018-06-22