Mutagenetix > Incidental Mutation

Incidental Mutation 'R0432:Dnmbp'

38883

Institutional Source

Beutler Lab

Gene Symbol

Dnmbp

Ensembl Gene

ENSMUSG00000025195

Gene Name

dynamin binding protein

Synonyms

2410003M15Rik, 2410003L07Rik, Tuba

MMRRC Submission

038634-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43846821-43940191 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 43854857 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 432 (Y432*)

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
AA Change: Y1189*

SMART Domains

Protein: ENSMUSP00000026209
Gene: ENSMUSG00000025195
AA Change: Y1189*

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

noncoding transcript
Transcript: ENSMUST00000157865

Predicted Effect

probably null
Transcript: ENSMUST00000212032
AA Change: Y1185*

Predicted Effect

probably null
Transcript: ENSMUST00000212048
AA Change: Y873*

Predicted Effect

probably null
Transcript: ENSMUST00000212396
AA Change: Y1189*

Predicted Effect

probably null
Transcript: ENSMUST00000212592
AA Change: Y432*

Meta Mutation Damage Score

0.9708

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

99% (91/92)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	A	G	17: 35,895,816	L110P	probably damaging	Het
4930522L14Rik	A	T	5: 109,736,919	C358S	probably damaging	Het
9330182L06Rik	G	T	5: 9,440,966	G659*	probably null	Het
Abca8b	C	A	11: 109,980,015	V104F	possibly damaging	Het
Afap1l2	T	C	19: 56,917,119		probably benign	Het
Ahctf1	A	C	1: 179,784,161	I548R	probably damaging	Het
Alox12b	G	T	11: 69,169,556	G646V	probably damaging	Het
Aoah	C	T	13: 20,911,198		probably benign	Het
Arhgap39	C	T	15: 76,734,886	D833N	probably damaging	Het
Atxn1l	A	G	8: 109,731,693	W646R	probably damaging	Het
Cabp2	T	C	19: 4,084,903	I28T	possibly damaging	Het
Cacna1b	G	A	2: 24,687,704	T719I	probably damaging	Het
Camk1d	A	T	2: 5,445,135	H70Q	probably damaging	Het
Car1	T	C	3: 14,770,176	T170A	probably benign	Het
Ccdc162	T	C	10: 41,541,860	T2113A	probably benign	Het
Cdc5l	G	A	17: 45,415,684	R321W	probably damaging	Het
Cdh17	T	A	4: 11,771,273	C18*	probably null	Het
Cdk17	A	T	10: 93,237,790		probably benign	Het
Chd9	T	A	8: 90,994,450		probably benign	Het
Chrm5	T	A	2: 112,479,655	K372M	possibly damaging	Het
Clasp2	A	G	9: 113,909,419	T423A	probably benign	Het
Col11a1	A	G	3: 114,205,901		probably benign	Het
Col27a1	T	C	4: 63,225,611	M512T	possibly damaging	Het
Dclk3	A	G	9: 111,484,935	D693G	probably damaging	Het
Dcun1d3	T	A	7: 119,857,950	K180*	probably null	Het
Dmxl2	T	C	9: 54,416,951	R876G	probably benign	Het
Eml2	C	T	7: 19,179,531	Q125*	probably null	Het
Faap100	A	C	11: 120,373,876		probably benign	Het
Foxp2	T	C	6: 15,254,279		probably benign	Het
Gda	A	G	19: 21,417,107	Y129H	probably damaging	Het
Gga3	G	A	11: 115,590,524	R207C	probably damaging	Het
Glg1	T	C	8: 111,182,569	I496M	probably damaging	Het
Glt6d1	C	A	2: 25,794,727		probably null	Het
Gm10322	A	T	10: 59,616,208	H49L	possibly damaging	Het
Golga5	G	T	12: 102,476,208	V269F	possibly damaging	Het
Gramd3	G	A	18: 56,474,069	C85Y	probably benign	Het
Grhl1	C	T	12: 24,582,919	P153L	probably benign	Het
Hdac9	T	C	12: 34,437,222	Q60R	probably damaging	Het
Hdlbp	T	C	1: 93,425,332	I414V	probably damaging	Het
Itpk1	C	T	12: 102,606,078		probably benign	Het
Itsn1	T	A	16: 91,815,520	Y266N	probably damaging	Het
Lipe	G	A	7: 25,398,488	P10L	probably benign	Het
Lrrc8a	A	G	2: 30,257,067	E631G	probably damaging	Het
Lvrn	T	A	18: 46,905,299	N973K	possibly damaging	Het
Man2c1	T	A	9: 57,135,597	H250Q	probably damaging	Het
Mup3	T	C	4: 62,085,282	T117A	probably benign	Het
Myo6	A	C	9: 80,273,974		probably benign	Het
Nbn	T	A	4: 15,983,951		probably benign	Het
Ncapg	T	A	5: 45,672,428	N157K	probably damaging	Het
Olfr1024	T	A	2: 85,904,157	N299I	probably damaging	Het
Olfr1137	G	A	2: 87,711,430	H159Y	probably benign	Het
Olfr1154	T	C	2: 87,902,960	T239A	probably damaging	Het
Olfr1178	C	T	2: 88,392,033	T262I	probably damaging	Het
Olfr1434	T	A	19: 12,283,903	M285K	probably damaging	Het
P4ha1	T	A	10: 59,348,257	Y180*	probably null	Het
Pcdhb19	T	A	18: 37,499,535	F794L	probably benign	Het
Pdxdc1	T	A	16: 13,854,400	I379F	probably damaging	Het
Psme3	T	A	11: 101,320,442	S185T	possibly damaging	Het
Ptgr1	A	G	4: 58,978,045	S116P	probably damaging	Het
Ptpn23	A	T	9: 110,389,010		probably null	Het
Rabgap1l	A	C	1: 160,722,205	I277R	probably benign	Het
Rapgef1	C	T	2: 29,679,816	T93I	possibly damaging	Het
Rbp3	A	T	14: 33,954,773	D226V	probably damaging	Het
Rnf144a	A	T	12: 26,339,329	C38S	probably damaging	Het
Rptor	C	T	11: 119,780,553	Q281*	probably null	Het
Rragd	T	C	4: 33,004,332	L208S	probably damaging	Het
Slc12a4	T	C	8: 105,959,488	E41G	probably damaging	Het
Slc16a1	G	T	3: 104,653,419	V347F	probably benign	Het
Slit1	G	A	19: 41,743,293	T39I	probably damaging	Het
Sra1	T	C	18: 36,677,503	N98S	probably benign	Het
Ssx2ip	T	C	3: 146,426,429	L215P	probably damaging	Het
Syne2	A	T	12: 75,949,064	H2126L	probably damaging	Het
Tep1	TTTCTTCTTCTT	TTTCTTCTT	14: 50,866,823		probably benign	Het
Tgfbi	T	C	13: 56,632,191		probably benign	Het
Tmem232	T	C	17: 65,256,503	M632V	probably damaging	Het
Tmem81	C	G	1: 132,507,829	I124M	probably damaging	Het
Tnnt3	T	G	7: 142,512,086	D153E	probably benign	Het
Tnrc6b	T	A	15: 80,923,446		probably benign	Het
Tpsab1	A	G	17: 25,343,824		probably benign	Het
Usp34	T	A	11: 23,401,505	V1431D	probably damaging	Het
Wdr49	G	T	3: 75,450,022	R285S	possibly damaging	Het
Wdr7	A	G	18: 63,796,249	Y1052C	probably damaging	Het
Zan	A	T	5: 137,382,316		probably benign	Het
Zfp652	G	A	11: 95,763,739	V323I	possibly damaging	Het
Zfp740	A	G	15: 102,212,659	T136A	possibly damaging	Het
Zfp82	C	T	7: 30,056,329	E443K	probably damaging	Het
Zfp874b	A	G	13: 67,481,836	S10P	probably damaging	Het
Zmynd19	A	G	2: 24,958,122	Y110C	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
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
R8738:Dnmbp	UTSW	19	43912238	missense	probably damaging	0.98
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
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'- TTCTTTCGAGCCAGCCCTTAAGATG -3'
(R):5'- GCTCCTGGACTTCTACAACTGCAC -3'

Sequencing Primer
(F):5'- GGTTTCACAGCACCATGAATG -3'
(R):5'- TTCTACAACTGCACTGAGCGAG -3'

Posted On

2013-05-23