Mutagenetix > Incidental Mutation

Incidental Mutation 'R6461:Dnmbp'

517622

Institutional Source

Beutler Lab

Gene Symbol

Dnmbp

Ensembl Gene

ENSMUSG00000025195

Gene Name

dynamin binding protein

Synonyms

2410003L07Rik, 2410003M15Rik, Tuba

MMRRC Submission

044390-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6461 (G1)

Quality Score

161.009

Status

Not validated

Chromosome

Chromosomal Location

43835260-43928630 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 43855964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000026209
Gene: ENSMUSG00000025195

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 null
Transcript: ENSMUST00000212032

Predicted Effect

probably null
Transcript: ENSMUST00000212048

Predicted Effect

probably null
Transcript: ENSMUST00000212396

Predicted Effect

probably null
Transcript: ENSMUST00000212592

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.1%

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	T	A	10: 85,476,428 (GRCm39)	I903N	probably damaging	Het
Atp12a	C	T	14: 56,610,695 (GRCm39)	R280C	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fbxo40	T	C	16: 36,790,390 (GRCm39)	E240G	probably benign	Het
Gne	T	C	4: 44,060,078 (GRCm39)	D105G	probably damaging	Het
Grin2c	A	T	11: 115,146,522 (GRCm39)	M494K	possibly damaging	Het
Hnrnpk	A	G	13: 58,541,008 (GRCm39)		probably null	Het
Irf6	G	C	1: 192,849,779 (GRCm39)	G234R	probably damaging	Het
Lman2	A	G	13: 55,494,728 (GRCm39)	F347L	probably damaging	Het
Mcfd2	G	A	17: 87,565,494 (GRCm39)	T3I	probably benign	Het
Mon1b	A	G	8: 114,365,170 (GRCm39)	D166G	probably damaging	Het
Mup10	T	A	4: 60,538,078 (GRCm39)	M4L	unknown	Het
Or13c7b	T	C	4: 43,821,355 (GRCm39)	E2G	probably benign	Het
Or2h1b	C	T	17: 37,462,362 (GRCm39)	C167Y	probably damaging	Het
Or51s1	T	A	7: 102,558,235 (GRCm39)	R270S	possibly damaging	Het
Papln	A	G	12: 83,828,587 (GRCm39)		probably null	Het
Pelp1	A	T	11: 70,287,132 (GRCm39)	V522E	probably damaging	Het
Scn1a	T	C	2: 66,156,466 (GRCm39)	D481G	probably null	Het
Scube1	G	A	15: 83,496,628 (GRCm39)	T791I	probably damaging	Het
Sec24a	T	C	11: 51,604,373 (GRCm39)	I748V	possibly damaging	Het
Slc29a2	A	G	19: 5,077,768 (GRCm39)	T236A	probably benign	Het
Smarca4	T	A	9: 21,590,316 (GRCm39)	I1152N	probably damaging	Het
Syngap1	A	G	17: 27,183,822 (GRCm39)	I1026V	probably damaging	Het
Tnxb	G	T	17: 34,890,872 (GRCm39)	R405L	probably damaging	Het
Zbtb11	G	A	16: 55,827,234 (GRCm39)	R900H	probably damaging	Het
Zfp142	T	C	1: 74,606,344 (GRCm39)	K1639R	probably 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
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
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'- TGCCTCTGTGCAGATTATACGC -3'
(R):5'- GATTTAGAGAAGCCTCGCGTC -3'

Sequencing Primer
(F):5'- GCAGATTATACGCAGCTTGG -3'
(R):5'- AGAAGCCTCGCGTCTCTGG -3'

Posted On

2018-05-21