Incidental Mutation 'IGL01443:Dnmbp'
ID84312
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnmbp
Ensembl Gene ENSMUSG00000025195
Gene Namedynamin binding protein
Synonyms2410003M15Rik, 2410003L07Rik, Tuba
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01443
Quality Score
Status
Chromosome19
Chromosomal Location43846821-43940191 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 43902870 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 153 (A153S)
Ref Sequence ENSEMBL: ENSMUSP00000148582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026209] [ENSMUST00000212032] [ENSMUST00000212396]
Predicted Effect probably damaging
Transcript: ENSMUST00000026209
AA Change: A153S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026209
Gene: ENSMUSG00000025195
AA Change: A153S

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 probably damaging
Transcript: ENSMUST00000212032
AA Change: A153S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000212396
AA Change: A153S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930572O03Rik A G 5: 15,652,644 *212Q probably null Het
Adamts2 A G 11: 50,803,863 E1159G possibly damaging Het
Adgrl3 A G 5: 81,465,287 Y189C probably damaging Het
AW554918 G A 18: 25,344,955 G446R probably damaging Het
Baiap3 A G 17: 25,245,147 F884S possibly damaging Het
Cd101 T C 3: 101,003,571 T924A probably benign Het
Cdk12 T A 11: 98,245,469 V1183E unknown Het
Clcc1 T C 3: 108,670,903 M240T probably benign Het
Dus4l T C 12: 31,652,410 probably benign Het
Dyrk1a A G 16: 94,685,084 E430G probably benign Het
Erc1 T C 6: 119,824,471 K195R probably damaging Het
Evpl T C 11: 116,222,454 E1470G probably damaging Het
Extl3 A T 14: 65,077,470 S88T probably damaging Het
Fam135b A T 15: 71,463,364 H660Q probably benign Het
Fat1 G A 8: 45,040,576 G3920S probably damaging Het
Fbxo38 A G 18: 62,533,670 V144A probably damaging Het
Grwd1 C T 7: 45,830,410 probably null Het
Hdlbp T C 1: 93,431,074 T252A probably damaging Het
Igkv3-1 A G 6: 70,704,104 S96G possibly damaging Het
Igkv4-68 G T 6: 69,304,937 F83L probably damaging Het
Klhl31 T C 9: 77,650,260 V86A possibly damaging Het
Lypd3 G A 7: 24,636,638 G17R probably benign Het
Manba T A 3: 135,544,828 D405E probably damaging Het
Map3k19 A G 1: 127,838,507 S227P probably benign Het
Nras T A 3: 103,062,435 C118S probably benign Het
Olfr659 A G 7: 104,671,071 D123G probably damaging Het
Pde8a T C 7: 81,324,181 F629L probably damaging Het
Phtf2 A G 5: 20,782,267 probably benign Het
Pik3c2a A T 7: 116,418,194 F109L probably benign Het
Plod3 G A 5: 136,990,221 R320H probably benign Het
Ppib T C 9: 66,065,597 F152L probably damaging Het
Rbm19 T C 5: 120,143,438 probably benign Het
Rgs12 T A 5: 34,975,219 S628R probably benign Het
Ripk1 A G 13: 34,015,268 D201G probably damaging Het
St14 G T 9: 31,100,193 S434* probably null Het
Tbc1d9 A G 8: 83,239,931 D387G probably damaging Het
Trio A G 15: 27,838,775 probably benign Het
Ttn G A 2: 76,713,871 R32924C probably damaging Het
Vmn1r181 T C 7: 23,984,581 V157A possibly damaging Het
Zfp473 C T 7: 44,739,563 D45N probably damaging Het
Other mutations in Dnmbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00477:Dnmbp APN 19 43902479 missense probably damaging 1.00
IGL01301:Dnmbp APN 19 43902354 missense probably benign 0.04
IGL01569:Dnmbp APN 19 43874856 missense probably benign 0.14
IGL01818:Dnmbp APN 19 43901165 missense probably damaging 1.00
IGL01989:Dnmbp APN 19 43867555 missense probably damaging 1.00
IGL02111:Dnmbp APN 19 43867555 missense probably damaging 1.00
IGL02666:Dnmbp APN 19 43854127 splice site probably benign
IGL02736:Dnmbp APN 19 43849770 splice site probably benign
ANU18:Dnmbp UTSW 19 43902354 missense probably benign 0.04
R0013:Dnmbp UTSW 19 43902231 missense probably benign 0.00
R0013:Dnmbp UTSW 19 43902231 missense probably benign 0.00
R0032:Dnmbp UTSW 19 43902719 missense probably damaging 1.00
R0032:Dnmbp UTSW 19 43902719 missense probably damaging 1.00
R0101:Dnmbp UTSW 19 43874160 missense possibly damaging 0.94
R0129:Dnmbp UTSW 19 43850027 missense probably benign 0.03
R0288:Dnmbp UTSW 19 43902459 missense possibly damaging 0.77
R0322:Dnmbp UTSW 19 43854846 missense probably damaging 1.00
R0426:Dnmbp UTSW 19 43852436 splice site probably benign
R0432:Dnmbp UTSW 19 43854857 nonsense probably null
R0497:Dnmbp UTSW 19 43856640 splice site probably benign
R1306:Dnmbp UTSW 19 43901779 missense probably benign 0.00
R1765:Dnmbp UTSW 19 43902140 missense possibly damaging 0.61
R1800:Dnmbp UTSW 19 43901720 missense probably benign 0.00
R1846:Dnmbp UTSW 19 43902747 missense probably damaging 1.00
R1916:Dnmbp UTSW 19 43901568 missense possibly damaging 0.85
R2001:Dnmbp UTSW 19 43850173 missense possibly damaging 0.76
R2131:Dnmbp UTSW 19 43854311 missense probably damaging 1.00
R2156:Dnmbp UTSW 19 43901907 missense possibly damaging 0.95
R2238:Dnmbp UTSW 19 43868864 missense possibly damaging 0.90
R2372:Dnmbp UTSW 19 43902320 missense probably benign 0.01
R4817:Dnmbp UTSW 19 43849972 missense probably benign 0.05
R5093:Dnmbp UTSW 19 43849876 missense probably damaging 0.98
R5249:Dnmbp UTSW 19 43902440 missense probably damaging 0.98
R5970:Dnmbp UTSW 19 43854171 missense probably benign 0.28
R6168:Dnmbp UTSW 19 43850240 missense probably damaging 1.00
R6189:Dnmbp UTSW 19 43890309 missense probably benign 0.00
R6189:Dnmbp UTSW 19 43901511 missense probably benign 0.05
R6239:Dnmbp UTSW 19 43848185 missense probably benign 0.11
R6256:Dnmbp UTSW 19 43852281 missense probably damaging 1.00
R6461:Dnmbp UTSW 19 43867525 critical splice donor site probably null
R6599:Dnmbp UTSW 19 43856586 missense probably damaging 0.96
R6704:Dnmbp UTSW 19 43901213 missense probably damaging 1.00
R7350:Dnmbp UTSW 19 43901505 missense probably damaging 1.00
R7355:Dnmbp UTSW 19 43901741 missense probably benign
R7409:Dnmbp UTSW 19 43890557 missense unknown
R7548:Dnmbp UTSW 19 43889399 missense probably benign 0.40
R7755:Dnmbp UTSW 19 43850086 missense probably benign
R7814:Dnmbp UTSW 19 43854176 missense probably benign 0.05
R7954:Dnmbp UTSW 19 43902303 missense probably benign
R7955:Dnmbp UTSW 19 43902323 missense probably benign 0.01
R8282:Dnmbp UTSW 19 43890566 missense unknown
R8385:Dnmbp UTSW 19 43889651 missense probably benign 0.01
R8696:Dnmbp UTSW 19 43874223 missense probably damaging 1.00
R8738:Dnmbp UTSW 19 43912238 missense probably damaging 0.98
R8819:Dnmbp UTSW 19 43901415 missense probably benign 0.43
R8824:Dnmbp UTSW 19 43849837 missense probably benign
R8902:Dnmbp UTSW 19 43901786 missense probably benign 0.00
R8906:Dnmbp UTSW 19 43890242 missense probably benign 0.01
Z1088:Dnmbp UTSW 19 43874984 missense probably benign 0.01
Z1088:Dnmbp UTSW 19 43902122 missense probably benign 0.00
Z1176:Dnmbp UTSW 19 43866688 missense probably damaging 0.99
Z1176:Dnmbp UTSW 19 43889367 missense probably benign 0.12
Posted On2013-11-11