Incidental Mutation 'R0432:Dnmbp'
ID 38883
Institutional Source Beutler Lab
Gene Symbol Dnmbp
Ensembl Gene ENSMUSG00000025195
Gene Name dynamin binding protein
Synonyms 2410003L07Rik, 2410003M15Rik, Tuba
MMRRC Submission 038634-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0432 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 43835260-43928630 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 43843296 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 432 (Y432*)
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 null
Transcript: ENSMUST00000026209
AA Change: Y1189*
SMART Domains Protein: ENSMUSP00000026209
Gene: ENSMUSG00000025195
AA Change: Y1189*

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 probably null
Transcript: ENSMUST00000212032
AA Change: Y1185*
Predicted Effect probably null
Transcript: ENSMUST00000212048
AA Change: Y873*
Predicted Effect probably null
Transcript: ENSMUST00000212396
AA Change: Y1189*
Predicted Effect probably null
Transcript: ENSMUST00000212592
AA Change: Y432*
Meta Mutation Damage Score 0.9708 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.9%
Validation Efficiency 99% (91/92)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061I04Rik A G 17: 36,206,708 (GRCm39) L110P probably damaging Het
4930522L14Rik A T 5: 109,884,785 (GRCm39) C358S probably damaging Het
Abca8b C A 11: 109,870,841 (GRCm39) V104F possibly damaging Het
Afap1l2 T C 19: 56,905,551 (GRCm39) probably benign Het
Ahctf1 A C 1: 179,611,726 (GRCm39) I548R probably damaging Het
Alox12b G T 11: 69,060,382 (GRCm39) G646V probably damaging Het
Aoah C T 13: 21,095,368 (GRCm39) probably benign Het
Arhgap39 C T 15: 76,619,086 (GRCm39) D833N probably damaging Het
Atxn1l A G 8: 110,458,325 (GRCm39) W646R probably damaging Het
Cabp2 T C 19: 4,134,903 (GRCm39) I28T possibly damaging Het
Cacna1b G A 2: 24,577,716 (GRCm39) T719I probably damaging Het
Camk1d A T 2: 5,449,946 (GRCm39) H70Q probably damaging Het
Car1 T C 3: 14,835,236 (GRCm39) T170A probably benign Het
Ccdc162 T C 10: 41,417,856 (GRCm39) T2113A probably benign Het
Cdc5l G A 17: 45,726,610 (GRCm39) R321W probably damaging Het
Cdh17 T A 4: 11,771,273 (GRCm39) C18* probably null Het
Cdk17 A T 10: 93,073,652 (GRCm39) probably benign Het
Chd9 T A 8: 91,721,078 (GRCm39) probably benign Het
Chrm5 T A 2: 112,310,000 (GRCm39) K372M possibly damaging Het
Clasp2 A G 9: 113,738,487 (GRCm39) T423A probably benign Het
Col11a1 A G 3: 113,999,550 (GRCm39) probably benign Het
Col27a1 T C 4: 63,143,848 (GRCm39) M512T possibly damaging Het
Dclk3 A G 9: 111,314,003 (GRCm39) D693G probably damaging Het
Dcun1d3 T A 7: 119,457,173 (GRCm39) K180* probably null Het
Dmxl2 T C 9: 54,324,235 (GRCm39) R876G probably benign Het
Elapor2 G T 5: 9,490,966 (GRCm39) G659* probably null Het
Eml2 C T 7: 18,913,456 (GRCm39) Q125* probably null Het
Faap100 A C 11: 120,264,702 (GRCm39) probably benign Het
Foxp2 T C 6: 15,254,278 (GRCm39) probably benign Het
Gda A G 19: 21,394,471 (GRCm39) Y129H probably damaging Het
Gga3 G A 11: 115,481,350 (GRCm39) R207C probably damaging Het
Glg1 T C 8: 111,909,201 (GRCm39) I496M probably damaging Het
Glt6d1 C A 2: 25,684,739 (GRCm39) probably null Het
Gm10322 A T 10: 59,452,030 (GRCm39) H49L possibly damaging Het
Golga5 G T 12: 102,442,467 (GRCm39) V269F possibly damaging Het
Gramd2b G A 18: 56,607,141 (GRCm39) C85Y probably benign Het
Grhl1 C T 12: 24,632,918 (GRCm39) P153L probably benign Het
Hdac9 T C 12: 34,487,221 (GRCm39) Q60R probably damaging Het
Hdlbp T C 1: 93,353,054 (GRCm39) I414V probably damaging Het
Itpk1 C T 12: 102,572,337 (GRCm39) probably benign Het
Itsn1 T A 16: 91,612,408 (GRCm39) Y266N probably damaging Het
Lipe G A 7: 25,097,913 (GRCm39) P10L probably benign Het
Lrrc8a A G 2: 30,147,079 (GRCm39) E631G probably damaging Het
Lvrn T A 18: 47,038,366 (GRCm39) N973K possibly damaging Het
Man2c1 T A 9: 57,042,881 (GRCm39) H250Q probably damaging Het
Mup3 T C 4: 62,003,519 (GRCm39) T117A probably benign Het
Myo6 A C 9: 80,181,256 (GRCm39) probably benign Het
Nbn T A 4: 15,983,951 (GRCm39) probably benign Het
Ncapg T A 5: 45,829,770 (GRCm39) N157K probably damaging Het
Or4p7 C T 2: 88,222,377 (GRCm39) T262I probably damaging Het
Or5an1 T A 19: 12,261,267 (GRCm39) M285K probably damaging Het
Or5m12 T A 2: 85,734,501 (GRCm39) N299I probably damaging Het
Or5w14 G A 2: 87,541,774 (GRCm39) H159Y probably benign Het
Or9m1 T C 2: 87,733,304 (GRCm39) T239A probably damaging Het
P4ha1 T A 10: 59,184,079 (GRCm39) Y180* probably null Het
Pcdhb19 T A 18: 37,632,588 (GRCm39) F794L probably benign Het
Pdxdc1 T A 16: 13,672,264 (GRCm39) I379F probably damaging Het
Psme3 T A 11: 101,211,268 (GRCm39) S185T possibly damaging Het
Ptgr1 A G 4: 58,978,045 (GRCm39) S116P probably damaging Het
Ptpn23 A T 9: 110,218,078 (GRCm39) probably null Het
Rabgap1l A C 1: 160,549,775 (GRCm39) I277R probably benign Het
Rapgef1 C T 2: 29,569,828 (GRCm39) T93I possibly damaging Het
Rbp3 A T 14: 33,676,730 (GRCm39) D226V probably damaging Het
Rnf144a A T 12: 26,389,328 (GRCm39) C38S probably damaging Het
Rptor C T 11: 119,671,379 (GRCm39) Q281* probably null Het
Rragd T C 4: 33,004,332 (GRCm39) L208S probably damaging Het
Slc12a4 T C 8: 106,686,120 (GRCm39) E41G probably damaging Het
Slc16a1 G T 3: 104,560,735 (GRCm39) V347F probably benign Het
Slit1 G A 19: 41,731,732 (GRCm39) T39I probably damaging Het
Sra1 T C 18: 36,810,556 (GRCm39) N98S probably benign Het
Ssx2ip T C 3: 146,132,184 (GRCm39) L215P probably damaging Het
Syne2 A T 12: 75,995,838 (GRCm39) H2126L probably damaging Het
Tep1 TTTCTTCTTCTT TTTCTTCTT 14: 51,104,280 (GRCm39) probably benign Het
Tgfbi T C 13: 56,780,004 (GRCm39) probably benign Het
Tmem232 T C 17: 65,563,498 (GRCm39) M632V probably damaging Het
Tmem81 C G 1: 132,435,567 (GRCm39) I124M probably damaging Het
Tnnt3 T G 7: 142,065,823 (GRCm39) D153E probably benign Het
Tnrc6b T A 15: 80,807,647 (GRCm39) probably benign Het
Tpsab1 A G 17: 25,562,798 (GRCm39) probably benign Het
Usp34 T A 11: 23,351,505 (GRCm39) V1431D probably damaging Het
Wdr49 G T 3: 75,357,329 (GRCm39) R285S possibly damaging Het
Wdr7 A G 18: 63,929,320 (GRCm39) Y1052C probably damaging Het
Zan A T 5: 137,380,578 (GRCm39) probably benign Het
Zfp652 G A 11: 95,654,565 (GRCm39) V323I possibly damaging Het
Zfp740 A G 15: 102,121,094 (GRCm39) T136A possibly damaging Het
Zfp82 C T 7: 29,755,754 (GRCm39) E443K probably damaging Het
Zfp874b A G 13: 67,629,955 (GRCm39) S10P probably damaging Het
Zmynd19 A G 2: 24,848,134 (GRCm39) Y110C 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
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
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'- TTCTTTCGAGCCAGCCCTTAAGATG -3'
(R):5'- GCTCCTGGACTTCTACAACTGCAC -3'

Sequencing Primer
(F):5'- GGTTTCACAGCACCATGAATG -3'
(R):5'- TTCTACAACTGCACTGAGCGAG -3'
Posted On 2013-05-23