Mutagenetix > Incidental Mutation

Incidental Mutation 'R8738:Dnmbp'

663202

Institutional Source

Beutler Lab

Gene Symbol

Dnmbp

Ensembl Gene

ENSMUSG00000025195

Gene Name

dynamin binding protein

Synonyms

2410003M15Rik, 2410003L07Rik, Tuba

MMRRC Submission

068585-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8738 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43846821-43940191 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43912238 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 48 (T48A)

Ref Sequence

ENSEMBL: ENSMUSP00000026209 (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: T48A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026209
Gene: ENSMUSG00000025195
AA Change: T48A

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: T48A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212396
AA Change: T48A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (76/78)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	G	A	9: 15,284,918	T283M	probably damaging	Het
Abca9	A	G	11: 110,165,991	M1T	probably null	Het
Ackr1	T	C	1: 173,332,385	Y189C	probably damaging	Het
Acsm4	A	G	7: 119,705,041	D303G	probably benign	Het
Arfgef2	A	T	2: 166,866,947	M1060L	probably benign	Het
Arhgef40	T	A	14: 52,000,957	F1298I	probably damaging	Het
Atg2a	T	C	19: 6,256,644	I1453T	probably benign	Het
B4galnt1	A	T	10: 127,171,715	D495V	probably benign	Het
Brpf3	T	A	17: 28,821,240	D878E	probably benign	Het
C3	A	G	17: 57,204,015	*1664R	probably null	Het
Cap2	A	G	13: 46,531,072	T73A	probably benign	Het
Ccr6	A	T	17: 8,256,562	I200F	probably damaging	Het
Cdc42bpb	C	T	12: 111,307,787	G1021R	probably benign	Het
Cidea	C	A	18: 67,366,415	S124*	probably null	Het
Cnst	C	A	1: 179,592,709	T135K	probably benign	Het
Crebbp	A	T	16: 4,119,088	M805K	probably benign	Het
Crybb1	A	G	5: 112,263,573	Y119C	probably damaging	Het
Cux1	G	T	5: 136,373,366	T121K	probably damaging	Het
Dnah11	A	T	12: 118,085,649		probably null	Het
Dysf	G	A	6: 84,194,371	G1787E	probably damaging	Het
Gcm2	T	A	13: 41,104,620	R177S	probably benign	Het
Gdf6	G	T	4: 9,859,429	R170S	probably damaging	Het
Gm16686	A	T	4: 88,755,538	M18K	unknown	Het
Gm36864	C	T	7: 44,236,880	Q179*	probably null	Het
Golgb1	A	G	16: 36,916,313	D2015G	probably damaging	Het
Gtf2i	A	G	5: 134,295,520	L30P	probably damaging	Het
Herc2	A	G	7: 56,148,654	E1955G	possibly damaging	Het
Hes3	A	T	4: 152,287,675	D37E	probably damaging	Het
Igha	A	G	12: 113,259,524	V161A	probably damaging	Het
Isl2	T	G	9: 55,545,438	S327A	probably benign	Het
Itk	A	G	11: 46,340,712	L339P	probably damaging	Het
Kcnb2	T	C	1: 15,710,424	S507P	probably benign	Het
Lgals4	C	T	7: 28,841,496	R282C	probably damaging	Het
Lhfpl4	C	A	6: 113,194,073	V51L	possibly damaging	Het
Lhpp	A	G	7: 132,641,532	Y159C	probably damaging	Het
Lrwd1	C	A	5: 136,133,403	E159*	probably null	Het
Map3k13	A	G	16: 21,926,258	T856A	probably damaging	Het
Mcm8	A	G	2: 132,823,221	T206A	probably benign	Het
Megf6	A	G	4: 154,267,979	K1265R	probably benign	Het
Mrgprb2	A	G	7: 48,552,900	Y26H	probably benign	Het
Mug1	T	C	6: 121,840,249		probably benign	Het
Mysm1	C	T	4: 94,967,959	G134S	probably damaging	Het
Nlrp3	A	C	11: 59,549,390	I598L	probably benign	Het
Npas2	A	T	1: 39,292,716	I71F	possibly damaging	Het
Nr1h5	A	G	3: 102,954,699	S85P	probably benign	Het
Nrcam	T	A	12: 44,572,292	V868D	possibly damaging	Het
Oas1a	A	G	5: 120,901,956	F191L	probably damaging	Het
Olfr761	A	T	17: 37,952,782	Y81N	possibly damaging	Het
Orc3	A	T	4: 34,599,778	L125H	possibly damaging	Het
Osbpl7	A	G	11: 97,056,077	E402G	possibly damaging	Het
Otof	G	A	5: 30,388,624	Q462*	probably null	Het
Phlda2	A	C	7: 143,502,222	I90S	probably damaging	Het
Plin3	C	T	17: 56,286,490	V75I	probably benign	Het
Pms1	A	T	1: 53,282,036	S13T	possibly damaging	Het
Ppm1d	A	G	11: 85,345,906	K504E	probably damaging	Het
Rflna	A	T	5: 125,010,477	I93F	probably damaging	Het
Rnpc3	T	A	3: 113,621,156	M193L	probably benign	Het
Sema3e	A	T	5: 14,164,155	I145F	possibly damaging	Het
Serpinb1b	C	A	13: 33,087,517	N90K	probably damaging	Het
Sfswap	A	G	5: 129,543,281	D538G	possibly damaging	Het
Snx14	A	T	9: 88,407,400	D266E	possibly damaging	Het
Stat4	C	T	1: 52,076,552	T217M	possibly damaging	Het
Taf13	T	C	3: 108,578,128	M40T	probably damaging	Het
Tenm4	A	G	7: 96,873,840	T1530A	probably damaging	Het
Tenm4	C	T	7: 96,905,941	P2618S	probably benign	Het
Tnfrsf14	T	C	4: 154,923,253	I220M	possibly damaging	Het
Tnk2	T	C	16: 32,665,900	W60R	probably damaging	Het
Tph2	A	T	10: 115,179,709		probably benign	Het
Unc13b	A	T	4: 43,177,564	K2797N	unknown	Het
Upf1	G	A	8: 70,333,322	P996S	probably benign	Het
Upf1	C	G	8: 70,333,323	M995I	probably benign	Het
Vcan	C	T	13: 89,692,320	V1702M	probably benign	Het
Vmn2r57	T	C	7: 41,427,596	D382G	probably benign	Het
Xxylt1	C	T	16: 31,081,146	A64T	probably benign	Het
Zcchc8	A	G	5: 123,703,007	S407P	probably damaging	Het
Zdhhc19	T	A	16: 32,498,369	F109Y	probably damaging	Het
Zfp638	T	C	6: 83,954,763		probably null	Het
Zfp691	A	G	4: 119,170,664	S124P	probably damaging	Het
Zfp804a	T	A	2: 82,259,106	V1093D	probably damaging	Het
Zfp986	A	C	4: 145,898,980	Q70P	probably benign	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
R1846:Dnmbp	UTSW	19	43902747	missense	probably damaging	1.00
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
R7954:Dnmbp	UTSW	19	43902303	missense	probably benign
R7955:Dnmbp	UTSW	19	43902323	missense	probably benign	0.01
R8282:Dnmbp	UTSW	19	43890566	missense	unknown
R8385:Dnmbp	UTSW	19	43889651	missense	probably benign	0.01
R8696:Dnmbp	UTSW	19	43874223	missense	probably damaging	1.00
R8819:Dnmbp	UTSW	19	43901415	missense	probably benign	0.43
R8824:Dnmbp	UTSW	19	43849837	missense	probably benign
R8902:Dnmbp	UTSW	19	43901786	missense	probably benign	0.00
R8906:Dnmbp	UTSW	19	43890242	missense	probably benign	0.01
R8977:Dnmbp	UTSW	19	43852312	missense	probably damaging	1.00
R9628:Dnmbp	UTSW	19	43870207	missense	probably damaging	0.99
R9635:Dnmbp	UTSW	19	43867535	missense	probably benign	0.39
R9771:Dnmbp	UTSW	19	43866592	missense	probably damaging	0.96
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'- AGCAGAAGCATCGCTCCTACTAG -3'
(R):5'- TTATGTGGCACGTCTCCTGC -3'

Sequencing Primer
(F):5'- GCATCGCTCCTACTAGAAATCTATTC -3'
(R):5'- AGCGCCGCTCTCTCACAC -3'

Posted On

2021-03-08