Mutagenetix > Incidental Mutations

Incidental Mutation 'R1846:Dnmbp'

207768

Institutional Source

Beutler Lab

Gene Symbol

Dnmbp

Ensembl Gene

ENSMUSG00000025195

Gene Name

dynamin binding protein

Synonyms

2410003M15Rik, 2410003L07Rik, Tuba

MMRRC Submission

039871-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1846 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43846821-43940191 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43902747 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 194 (I194V)

Ref Sequence

ENSEMBL: ENSMUSP00000148582 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026209] [ENSMUST00000212032] [ENSMUST00000212396]

Predicted Effect

probably damaging
Transcript: ENSMUST00000026209
AA Change: I194V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026209
Gene: ENSMUSG00000025195
AA Change: I194V

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: I194V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212396
AA Change: I194V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.1941

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.6%

Validation Efficiency

99% (75/76)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	G	T	14: 49,235,963	L102I	probably damaging	Het
2900092C05Rik	G	A	7: 12,512,882	R63Q	probably benign	Het
Adamts20	A	T	15: 94,345,990	C619S	probably damaging	Het
Alx1	T	C	10: 103,025,304	D121G	possibly damaging	Het
Anks3	A	C	16: 4,953,884	M215R	probably benign	Het
Anxa4	T	A	6: 86,741,911		probably null	Het
Arhgef25	A	G	10: 127,185,864	V222A	probably damaging	Het
Bglap2	A	G	3: 88,378,625		probably benign	Het
Cars2	A	G	8: 11,514,674	V22A	probably benign	Het
Cenpe	T	A	3: 135,239,845	I1040N	probably damaging	Het
Cep170	C	T	1: 176,755,769	D1015N	probably damaging	Het
Chia1	T	A	3: 106,130,865	I359N	probably damaging	Het
Crot	A	T	5: 8,988,248	V93E	probably benign	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dock4	T	A	12: 40,733,268	C734S	probably benign	Het
Eif4e3	T	C	6: 99,640,701	S70G	probably benign	Het
Entpd3	G	A	9: 120,558,375	D213N	probably benign	Het
Ern2	T	G	7: 122,176,536	Y445S	probably benign	Het
Fasn	A	G	11: 120,813,307	S1429P	probably benign	Het
Fat4	A	G	3: 38,982,383	I3395V	probably benign	Het
Fbln2	C	A	6: 91,256,417	Q628K	possibly damaging	Het
Fbxo28	T	C	1: 182,326,280	N164D	probably benign	Het
Fez1	T	C	9: 36,867,767	S247P	probably damaging	Het
Gars	A	G	6: 55,063,168	D360G	probably benign	Het
Gcfc2	A	T	6: 81,956,892	Q710L	probably damaging	Het
Ggt5	A	G	10: 75,610,542		probably null	Het
Glp1r	A	G	17: 30,929,935		probably null	Het
Hspa14	T	C	2: 3,491,660	D356G	possibly damaging	Het
Htt	T	A	5: 34,848,944	I1399N	probably damaging	Het
Kmt2e	G	A	5: 23,499,486		probably benign	Het
Krt36	C	A	11: 100,105,548	G17C	probably damaging	Het
Lama2	T	C	10: 27,212,096	E895G	probably damaging	Het
Lamb2	G	A	9: 108,487,387	R1142H	probably benign	Het
Lhcgr	C	T	17: 88,765,147		probably null	Het
Lpin2	A	G	17: 71,225,069	T140A	probably benign	Het
Metap1	A	G	3: 138,480,682		probably benign	Het
Mpeg1	T	C	19: 12,463,122	V648A	probably benign	Het
Mroh2a	A	G	1: 88,258,664	S64G	probably benign	Het
Muc4	T	A	16: 32,752,369	I749N	probably benign	Het
N4bp2	T	C	5: 65,808,519	F1304L	probably damaging	Het
Nup85	A	G	11: 115,568,413	E114G	probably benign	Het
Olfr1258	A	G	2: 89,930,666	T286A	possibly damaging	Het
Olfr1415	A	T	1: 92,491,100	Y218*	probably null	Het
Olfr448	A	G	6: 42,897,320	S290G	probably damaging	Het
Pafah2	GCCCC	GCCCCC	4: 134,425,541		probably null	Het
Parp2	T	A	14: 50,815,386	C145*	probably null	Het
Plpp6	T	C	19: 28,964,280	S94P	probably benign	Het
Polr1a	T	C	6: 71,976,188	I1580T	probably damaging	Het
Polrmt	A	T	10: 79,738,209	V860E	probably damaging	Het
Ppp1r17	A	G	6: 56,022,427	E15G	possibly damaging	Het
Prl7b1	A	T	13: 27,602,848	W133R	probably damaging	Het
Ptk7	A	G	17: 46,576,490		probably null	Het
Rad23b	C	T	4: 55,383,637	Q290*	probably null	Het
Rorb	C	T	19: 18,955,081	E369K	probably damaging	Het
Rusc1	T	C	3: 89,092,145	D110G	probably damaging	Het
Smg7	A	G	1: 152,848,850	S527P	probably damaging	Het
Ssbp2	C	T	13: 91,664,149	P105L	probably damaging	Het
Stt3a	C	T	9: 36,763,385	R34H	probably damaging	Het
Sufu	T	A	19: 46,450,947	I202N	possibly damaging	Het
Thsd7b	G	A	1: 129,613,256	R289Q	probably damaging	Het
Tph1	A	T	7: 46,660,439	S130T	probably damaging	Het
Ttn	A	G	2: 76,945,686	S1671P	probably damaging	Het
Usp4	A	G	9: 108,372,736	I441V	probably benign	Het
Vmn1r8	A	G	6: 57,036,428	N155D	probably benign	Het
Vmn2r115	A	C	17: 23,359,383	K610T	probably damaging	Het
Vmn2r62	G	A	7: 42,789,122	P97S	probably damaging	Het
Zbtb40	T	C	4: 137,007,839	D297G	probably benign	Het
Zfp174	C	A	16: 3,854,735	Q383K	probably benign	Het
Zfp318	T	A	17: 46,413,666	D2198E	probably benign	Het
Zfp628	C	T	7: 4,920,867	P696L	possibly damaging	Het
Zgrf1	T	A	3: 127,615,463	N1695K	probably damaging	Het

Other mutations in Dnmbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00477:Dnmbp	APN	19	43902479	missense	probably damaging	1.00
IGL01301:Dnmbp	APN	19	43902354	missense	probably benign	0.04
IGL01443:Dnmbp	APN	19	43902870	missense	probably damaging	1.00
IGL01569:Dnmbp	APN	19	43874856	missense	probably benign	0.14
IGL01818:Dnmbp	APN	19	43901165	missense	probably damaging	1.00
IGL01989:Dnmbp	APN	19	43867555	missense	probably damaging	1.00
IGL02111:Dnmbp	APN	19	43867555	missense	probably damaging	1.00
IGL02666:Dnmbp	APN	19	43854127	splice site	probably benign
IGL02736:Dnmbp	APN	19	43849770	splice site	probably benign
ANU18:Dnmbp	UTSW	19	43902354	missense	probably benign	0.04
R0013:Dnmbp	UTSW	19	43902231	missense	probably benign	0.00
R0013:Dnmbp	UTSW	19	43902231	missense	probably benign	0.00
R0032:Dnmbp	UTSW	19	43902719	missense	probably damaging	1.00
R0032:Dnmbp	UTSW	19	43902719	missense	probably damaging	1.00
R0101:Dnmbp	UTSW	19	43874160	missense	possibly damaging	0.94
R0129:Dnmbp	UTSW	19	43850027	missense	probably benign	0.03
R0288:Dnmbp	UTSW	19	43902459	missense	possibly damaging	0.77
R0322:Dnmbp	UTSW	19	43854846	missense	probably damaging	1.00
R0426:Dnmbp	UTSW	19	43852436	splice site	probably benign
R0432:Dnmbp	UTSW	19	43854857	nonsense	probably null
R0497:Dnmbp	UTSW	19	43856640	splice site	probably benign
R1306:Dnmbp	UTSW	19	43901779	missense	probably benign	0.00
R1765:Dnmbp	UTSW	19	43902140	missense	possibly damaging	0.61
R1800:Dnmbp	UTSW	19	43901720	missense	probably benign	0.00
R1916:Dnmbp	UTSW	19	43901568	missense	possibly damaging	0.85
R2001:Dnmbp	UTSW	19	43850173	missense	possibly damaging	0.76
R2131:Dnmbp	UTSW	19	43854311	missense	probably damaging	1.00
R2156:Dnmbp	UTSW	19	43901907	missense	possibly damaging	0.95
R2238:Dnmbp	UTSW	19	43868864	missense	possibly damaging	0.90
R2372:Dnmbp	UTSW	19	43902320	missense	probably benign	0.01
R4817:Dnmbp	UTSW	19	43849972	missense	probably benign	0.05
R5093:Dnmbp	UTSW	19	43849876	missense	probably damaging	0.98
R5249:Dnmbp	UTSW	19	43902440	missense	probably damaging	0.98
R5970:Dnmbp	UTSW	19	43854171	missense	probably benign	0.28
R6168:Dnmbp	UTSW	19	43850240	missense	probably damaging	1.00
R6189:Dnmbp	UTSW	19	43890309	missense	probably benign	0.00
R6189:Dnmbp	UTSW	19	43901511	missense	probably benign	0.05
R6239:Dnmbp	UTSW	19	43848185	missense	probably benign	0.11
R6256:Dnmbp	UTSW	19	43852281	missense	probably damaging	1.00
R6461:Dnmbp	UTSW	19	43867525	critical splice donor site	probably null
R6599:Dnmbp	UTSW	19	43856586	missense	probably damaging	0.96
R6704:Dnmbp	UTSW	19	43901213	missense	probably damaging	1.00
R7350:Dnmbp	UTSW	19	43901505	missense	probably damaging	1.00
R7355:Dnmbp	UTSW	19	43901741	missense	probably benign
R7409:Dnmbp	UTSW	19	43890557	missense	unknown
R7548:Dnmbp	UTSW	19	43889399	missense	probably benign	0.40
R7755:Dnmbp	UTSW	19	43850086	missense	probably benign
R7814:Dnmbp	UTSW	19	43854176	missense	probably benign	0.05
Z1088:Dnmbp	UTSW	19	43874984	missense	probably benign	0.01
Z1088:Dnmbp	UTSW	19	43902122	missense	probably benign	0.00
Z1176:Dnmbp	UTSW	19	43866688	missense	probably damaging	0.99
Z1176:Dnmbp	UTSW	19	43889367	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- AATTCTGTCCCCTACCTCAAAG -3'
(R):5'- CACAGAGTGCGTTGCTTCAG -3'

Sequencing Primer
(F):5'- ATCTGTAGAGGGCGATTCCATAG -3'
(R):5'- TTGCTTCAGGCCCCAGAGTAC -3'

Posted On

2014-06-23