Mutagenetix > Incidental Mutation

Incidental Mutation 'R1306:Dnmbp'

157817

Institutional Source

Beutler Lab

Gene Symbol

Dnmbp

Ensembl Gene

ENSMUSG00000025195

Gene Name

dynamin binding protein

Synonyms

2410003L07Rik, 2410003M15Rik, Tuba

MMRRC Submission

039372-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1306 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43835260-43928630 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43890218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 516 (D516E)

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: D516E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000026209
Gene: ENSMUSG00000025195
AA Change: D516E

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: D516E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000212396
AA Change: D516E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 98.8%
3x: 97.9%
10x: 95.1%
20x: 89.8%

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	T	A	7: 80,743,621 (GRCm39)	L1146H	probably damaging	Het
Atad2b	A	G	12: 5,024,239 (GRCm39)	I121M	probably benign	Het
Atg2a	A	T	19: 6,303,051 (GRCm39)	T1053S	probably benign	Het
Bend5	C	T	4: 111,316,970 (GRCm39)	Q127*	probably null	Het
Ccser1	G	A	6: 62,357,090 (GRCm39)	D843N	probably damaging	Het
Dennd4b	A	G	3: 90,178,472 (GRCm39)	T512A	probably benign	Het
Dok3	C	A	13: 55,675,261 (GRCm39)	E86*	probably null	Het
Fat3	A	G	9: 16,287,975 (GRCm39)	I516T	probably damaging	Het
Gabbr1	T	A	17: 37,366,882 (GRCm39)		probably null	Het
Gjd2	T	C	2: 113,842,346 (GRCm39)	T44A	probably damaging	Het
Mcm7	C	A	5: 138,165,465 (GRCm39)	A480S	probably damaging	Het
Meox2	GCACCACCACCACCACCACCA	GCACCACCACCACCACCA	12: 37,159,030 (GRCm39)		probably benign	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Pdzph1	T	C	17: 59,239,427 (GRCm39)	H967R	possibly damaging	Het
Pik3c2g	A	G	6: 139,718,154 (GRCm39)	N227S	probably benign	Het
Pkd1	T	C	17: 24,792,146 (GRCm39)	S1278P	probably damaging	Het
Plch2	T	C	4: 155,091,597 (GRCm39)	E71G	probably damaging	Het
Pnma8a	A	G	7: 16,695,950 (GRCm39)	R428G	probably benign	Het
Sertad2	T	C	11: 20,598,388 (GRCm39)	S195P	probably benign	Het
Slc19a3	A	G	1: 83,000,483 (GRCm39)	L178S	probably damaging	Het
Smarca2	A	G	19: 26,748,388 (GRCm39)	D139G	possibly damaging	Het
Tm4sf19	G	A	16: 32,226,720 (GRCm39)	V170M	probably damaging	Het
Vwa3a	C	G	7: 120,399,613 (GRCm39)	S1031R	possibly damaging	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
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'- TGAAAAGCGGCGTACAATCGTCTC -3'
(R):5'- AACGGTGTTTCTTCCCAGCCTCAG -3'

Sequencing Primer
(F):5'- ACAATCGTCTCTGGCTCTGTG -3'
(R):5'- CTGAGCTTGTCCCACTAGAAG -3'

Posted On

2014-02-18