Mutagenetix > Incidental Mutation

Incidental Mutation 'R2372:Dnmbp'

248186

Institutional Source

Beutler Lab

Gene Symbol

Dnmbp

Ensembl Gene

ENSMUSG00000025195

Gene Name

dynamin binding protein

Synonyms

2410003L07Rik, 2410003M15Rik, Tuba

MMRRC Submission

040352-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2372 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43835260-43928630 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43890759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 336 (E336G)

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: E336G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000026209
Gene: ENSMUSG00000025195
AA Change: E336G

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: E336G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000212396
AA Change: E336G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Meta Mutation Damage Score

0.0709

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

97% (36/37)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008O03Rik	A	G	7: 44,009,704 (GRCm39)	L135S	probably damaging	Het
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Alpi	G	T	1: 87,028,316 (GRCm39)	T169N	probably damaging	Het
Ccdc15	T	C	9: 37,226,801 (GRCm39)	D378G	possibly damaging	Het
Cpb2	T	G	14: 75,505,490 (GRCm39)	V162G	probably damaging	Het
Dok6	G	C	18: 89,432,988 (GRCm39)	R274G	probably null	Het
Eef1d	G	A	15: 75,768,166 (GRCm39)	R199C	probably damaging	Het
Epha8	T	C	4: 136,660,321 (GRCm39)	Y714C	probably damaging	Het
Fyb1	T	C	15: 6,681,388 (GRCm39)		probably benign	Het
Gfpt2	A	G	11: 49,698,542 (GRCm39)	N46D	probably benign	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably benign	Het
Gm11596	C	A	11: 99,684,082 (GRCm39)	E13*	probably null	Het
Gsx2	T	C	5: 75,237,713 (GRCm39)	F222L	probably damaging	Het
Hpca	T	A	4: 129,012,237 (GRCm39)	K100*	probably null	Het
Iqsec1	A	G	6: 90,671,636 (GRCm39)	S89P	probably damaging	Het
Kif12	T	A	4: 63,086,796 (GRCm39)	T347S	possibly damaging	Het
Knop1	A	G	7: 118,452,440 (GRCm39)	L93S	probably damaging	Het
Mib1	A	G	18: 10,812,045 (GRCm39)	T981A	probably damaging	Het
N4bp2l1	C	T	5: 150,496,246 (GRCm39)	E123K	probably damaging	Het
Npr2	C	T	4: 43,650,432 (GRCm39)	R976W	probably damaging	Het
Rbpj	T	C	5: 53,799,537 (GRCm39)		probably benign	Het
Ro60	C	A	1: 143,646,620 (GRCm39)	E42*	probably null	Het
Ruvbl1	T	C	6: 88,462,779 (GRCm39)	V301A	possibly damaging	Het
Sgip1	T	C	4: 102,766,988 (GRCm39)		probably null	Het
Sh3bp2	T	C	5: 34,716,840 (GRCm39)	I361T	probably benign	Het
Skint1	T	A	4: 111,876,348 (GRCm39)	Y90N	probably damaging	Het
Slc25a45	G	A	19: 5,934,580 (GRCm39)	V183I	probably benign	Het
Slco4c1	T	A	1: 96,748,925 (GRCm39)	H664L	probably benign	Het
Sult2a4	T	A	7: 13,649,225 (GRCm39)	I194L	probably benign	Het
Tecta	C	A	9: 42,299,570 (GRCm39)	D173Y	probably damaging	Het
Tnrc18	T	A	5: 142,745,459 (GRCm39)		probably benign	Het
Use1	T	C	8: 71,821,823 (GRCm39)	L169P	possibly damaging	Het
Zfp335	A	G	2: 164,736,959 (GRCm39)	L918P	probably damaging	Het
Zfp451	A	T	1: 33,819,133 (GRCm39)		probably null	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
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'- GAGGCCTTTCAAGATCCACATC -3'
(R):5'- ACGAATGAGTTGGACTTTGAGG -3'

Sequencing Primer
(F):5'- TTTCAAGATCCACATCAGGAGAG -3'
(R):5'- CTTTGAGGTAGGGGACAGAATTC -3'

Posted On

2014-11-11