Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01443:Dnmbp'

84312

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dnmbp

Ensembl Gene

ENSMUSG00000025195

Gene Name

dynamin binding protein

Synonyms

2410003L07Rik, 2410003M15Rik, Tuba

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01443

Quality Score

Status

Chromosome

Chromosomal Location

43835260-43928630 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 43891309 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

no structure available at present

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

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 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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,694,690 (GRCm39)	E1159G	possibly damaging	Het
Adgrl3	A	G	5: 81,613,134 (GRCm39)	Y189C	probably damaging	Het
AW554918	G	A	18: 25,478,012 (GRCm39)	G446R	probably damaging	Het
Baiap3	A	G	17: 25,464,121 (GRCm39)	F884S	possibly damaging	Het
Cd101	T	C	3: 100,910,887 (GRCm39)	T924A	probably benign	Het
Cdk12	T	A	11: 98,136,295 (GRCm39)	V1183E	unknown	Het
Clcc1	T	C	3: 108,578,219 (GRCm39)	M240T	probably benign	Het
Dus4l	T	C	12: 31,702,409 (GRCm39)		probably benign	Het
Dyrk1a	A	G	16: 94,485,943 (GRCm39)	E430G	probably benign	Het
Erc1	T	C	6: 119,801,432 (GRCm39)	K195R	probably damaging	Het
Evpl	T	C	11: 116,113,280 (GRCm39)	E1470G	probably damaging	Het
Extl3	A	T	14: 65,314,919 (GRCm39)	S88T	probably damaging	Het
Fam135b	A	T	15: 71,335,213 (GRCm39)	H660Q	probably benign	Het
Fat1	G	A	8: 45,493,613 (GRCm39)	G3920S	probably damaging	Het
Fbxo38	A	G	18: 62,666,741 (GRCm39)	V144A	probably damaging	Het
Grwd1	C	T	7: 45,479,834 (GRCm39)		probably null	Het
Hdlbp	T	C	1: 93,358,796 (GRCm39)	T252A	probably damaging	Het
Igkv3-1	A	G	6: 70,681,088 (GRCm39)	S96G	possibly damaging	Het
Igkv4-68	G	T	6: 69,281,921 (GRCm39)	F83L	probably damaging	Het
Klhl31	T	C	9: 77,557,542 (GRCm39)	V86A	possibly damaging	Het
Lypd3	G	A	7: 24,336,063 (GRCm39)	G17R	probably benign	Het
Manba	T	A	3: 135,250,589 (GRCm39)	D405E	probably damaging	Het
Map3k19	A	G	1: 127,766,244 (GRCm39)	S227P	probably benign	Het
Nras	T	A	3: 102,969,751 (GRCm39)	C118S	probably benign	Het
Or52n20	A	G	7: 104,320,278 (GRCm39)	D123G	probably damaging	Het
Pde8a	T	C	7: 80,973,929 (GRCm39)	F629L	probably damaging	Het
Phtf2	A	G	5: 20,987,265 (GRCm39)		probably benign	Het
Pik3c2a	A	T	7: 116,017,429 (GRCm39)	F109L	probably benign	Het
Plod3	G	A	5: 137,019,075 (GRCm39)	R320H	probably benign	Het
Ppib	T	C	9: 65,972,879 (GRCm39)	F152L	probably damaging	Het
Rbm19	T	C	5: 120,281,503 (GRCm39)		probably benign	Het
Rgs12	T	A	5: 35,132,563 (GRCm39)	S628R	probably benign	Het
Ripk1	A	G	13: 34,199,251 (GRCm39)	D201G	probably damaging	Het
Speer4c2	A	G	5: 15,857,642 (GRCm39)	*212Q	probably null	Het
St14	G	T	9: 31,011,489 (GRCm39)	S434*	probably null	Het
Tbc1d9	A	G	8: 83,966,560 (GRCm39)	D387G	probably damaging	Het
Trio	A	G	15: 27,838,861 (GRCm39)		probably benign	Het
Ttn	G	A	2: 76,544,215 (GRCm39)	R32924C	probably damaging	Het
Vmn1r181	T	C	7: 23,684,006 (GRCm39)	V157A	possibly damaging	Het
Zfp473	C	T	7: 44,388,987 (GRCm39)	D45N	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
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
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

Posted On

2013-11-11