Mutagenetix > Incidental Mutation

Incidental Mutation 'R1765:Dnmbp'

194334

Institutional Source

Beutler Lab

Gene Symbol

Dnmbp

Ensembl Gene

ENSMUSG00000025195

Gene Name

dynamin binding protein

Synonyms

2410003M15Rik, 2410003L07Rik, Tuba

MMRRC Submission

039797-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1765 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43846821-43940191 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43902140 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 396 (D396V)

Ref Sequence

ENSEMBL: ENSMUSP00000148582 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026209
AA Change: D396V

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000026209
Gene: ENSMUSG00000025195
AA Change: D396V

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 benign
Transcript: ENSMUST00000212032
AA Change: D396V

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212396
AA Change: D396V

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.0761

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

99% (90/91)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110043O21Rik	A	C	4: 35,197,098 (GRCm38)	H322Q	probably damaging	Het
4933412E24Rik	G	T	15: 60,015,345 (GRCm38)	C415*	probably null	Het
A430105I19Rik	G	A	2: 118,760,647 (GRCm38)	A135V	probably benign	Het
Adamtsl2	A	C	2: 27,102,830 (GRCm38)	I652L	probably benign	Het
Adgrl4	T	C	3: 151,543,235 (GRCm38)	I720T	probably damaging	Het
Agrn	A	T	4: 156,176,827 (GRCm38)	C604*	probably null	Het
Amh	AGCGCCTTGG	AG	10: 80,805,585 (GRCm38)		probably null	Het
B3galt2	C	A	1: 143,646,469 (GRCm38)	N114K	probably benign	Het
Bud23	A	T	5: 135,056,043 (GRCm38)	M59K	probably benign	Het
C3	C	T	17: 57,224,401 (GRCm38)		probably null	Het
Cc2d2a	A	T	5: 43,714,531 (GRCm38)	D903V	probably damaging	Het
Ccdc105	A	T	10: 78,748,668 (GRCm38)	M340K	probably benign	Het
Cd84	A	G	1: 171,872,750 (GRCm38)	T145A	possibly damaging	Het
Cdan1	A	C	2: 120,720,749 (GRCm38)	L1097V	probably damaging	Het
Cdc26	T	A	4: 62,394,918 (GRCm38)	N62I	probably benign	Het
Cdc27	G	T	11: 104,534,781 (GRCm38)	Q70K	probably damaging	Het
Cenpq	A	T	17: 40,924,287 (GRCm38)		probably null	Het
Cep295	T	C	9: 15,327,904 (GRCm38)	S1858G	probably damaging	Het
Clasp1	T	C	1: 118,505,531 (GRCm38)	S247P	probably damaging	Het
Cyp2w1	C	T	5: 139,353,868 (GRCm38)	T71I	probably damaging	Het
Dcaf1	T	C	9: 106,864,594 (GRCm38)	F1336S	probably damaging	Het
Dennd6b	G	A	15: 89,190,303 (GRCm38)	Q104*	probably null	Het
Dglucy	T	A	12: 100,850,102 (GRCm38)		probably null	Het
Dnajc9	A	G	14: 20,388,090 (GRCm38)	V148A	possibly damaging	Het
Dock10	T	A	1: 80,605,823 (GRCm38)	I221F	probably damaging	Het
Dscam	T	C	16: 96,685,379 (GRCm38)	N1032S	probably benign	Het
Dsg4	A	C	18: 20,456,831 (GRCm38)	Y346S	probably benign	Het
Dync1i2	A	G	2: 71,249,415 (GRCm38)	H417R	probably benign	Het
Dysf	G	A	6: 84,190,902 (GRCm38)		probably null	Het
Elovl1	A	G	4: 118,430,510 (GRCm38)	M1V	probably null	Het
Eva1c	A	G	16: 90,904,247 (GRCm38)	S257G	probably benign	Het
Eya2	A	T	2: 165,724,803 (GRCm38)	D258V	probably damaging	Het
Fam193a	A	G	5: 34,436,497 (GRCm38)	T113A	probably damaging	Het
Fbxw15	G	A	9: 109,558,246 (GRCm38)	S227F	probably damaging	Het
Fstl5	G	T	3: 76,593,476 (GRCm38)	R404L	possibly damaging	Het
Glud1	T	C	14: 34,325,584 (GRCm38)		probably benign	Het
Gm10770	A	C	2: 150,179,338 (GRCm38)	H86Q	probably damaging	Het
Gm13757	A	T	2: 88,446,023 (GRCm38)	F305Y	probably damaging	Het
Gm5724	T	C	6: 141,754,358 (GRCm38)		probably benign	Het
Gzme	C	T	14: 56,118,414 (GRCm38)	G147D	probably damaging	Het
Herc3	T	C	6: 58,888,660 (GRCm38)	V746A	probably damaging	Het
Hmga1	A	G	17: 27,559,618 (GRCm38)	E17G	probably damaging	Het
Kdelr2	A	T	5: 143,420,812 (GRCm38)	K206*	probably null	Het
Kng2	A	G	16: 22,988,243 (GRCm38)		probably null	Het
Lrrc41	G	A	4: 116,089,051 (GRCm38)	R321H	possibly damaging	Het
Mapkapk2	A	T	1: 131,058,761 (GRCm38)	M1K	probably null	Het
Me2	A	G	18: 73,791,858 (GRCm38)	F263L	probably damaging	Het
Mkks	A	G	2: 136,880,367 (GRCm38)	L290P	probably damaging	Het
Mmp12	T	A	9: 7,354,772 (GRCm38)	I255N	probably damaging	Het
Mogs	A	G	6: 83,116,803 (GRCm38)	D251G	probably benign	Het
Morf4l1	T	A	9: 90,102,348 (GRCm38)	Y65F	possibly damaging	Het
Neb	T	C	2: 52,204,664 (GRCm38)	D5169G	probably damaging	Het
Nin	A	G	12: 70,042,891 (GRCm38)	L1250P	probably damaging	Het
Nomo1	G	T	7: 46,066,293 (GRCm38)	G721V	possibly damaging	Het
Notch2	T	G	3: 98,121,926 (GRCm38)	C1002G	probably damaging	Het
Npat	T	C	9: 53,570,222 (GRCm38)	Y1077H	probably benign	Het
Olfr1284	G	A	2: 111,379,146 (GRCm38)	V49I	probably benign	Het
Olfr193	A	G	16: 59,109,755 (GRCm38)	L285P	probably damaging	Het
Olfr376	T	A	11: 73,375,344 (GRCm38)	N198K	probably damaging	Het
Olfr894	T	C	9: 38,219,252 (GRCm38)	I143T	probably benign	Het
Otop2	A	T	11: 115,324,678 (GRCm38)	I142F	probably benign	Het
Pacsin3	A	G	2: 91,263,115 (GRCm38)	E279G	possibly damaging	Het
Pafah2	A	G	4: 134,413,447 (GRCm38)	T243A	probably benign	Het
Pcdhgc5	A	G	18: 37,821,860 (GRCm38)	H729R	probably benign	Het
Plcd1	T	C	9: 119,071,806 (GRCm38)	D756G	probably damaging	Het
Prune2	A	G	19: 17,125,598 (GRCm38)	E2707G	probably damaging	Het
Rit2	C	T	18: 31,316,898 (GRCm38)	G16S	probably damaging	Het
Sec24c	A	G	14: 20,688,854 (GRCm38)		probably benign	Het
Skint5	G	T	4: 113,577,661 (GRCm38)	T1037K	unknown	Het
Slc28a2	T	A	2: 122,460,395 (GRCm38)		probably null	Het
Slc41a2	G	A	10: 83,301,266 (GRCm38)	A259V	probably damaging	Het
Slc6a17	T	A	3: 107,473,579 (GRCm38)	I537F	possibly damaging	Het
Smchd1	A	T	17: 71,400,201 (GRCm38)		probably benign	Het
Smg1	T	C	7: 118,139,715 (GRCm38)	I3489V	probably benign	Het
Sytl3	T	C	17: 6,699,683 (GRCm38)	L142P	probably damaging	Het
Tfr2	C	T	5: 137,583,445 (GRCm38)	T598I	probably damaging	Het
Tmc2	A	G	2: 130,260,225 (GRCm38)	Q770R	probably benign	Het
Tnc	C	T	4: 64,013,994 (GRCm38)	V728M	probably damaging	Het
Trim68	A	T	7: 102,680,390 (GRCm38)	M177K	possibly damaging	Het
Trmt11	T	C	10: 30,559,188 (GRCm38)	D325G	probably benign	Het
Ube3a	C	T	7: 59,286,114 (GRCm38)	T582I	probably damaging	Het
Usp13	G	A	3: 32,915,770 (GRCm38)	E682K	probably benign	Het
Usp9y	A	G	Y: 1,384,454 (GRCm38)	V688A	possibly damaging	Het
Uts2r	A	G	11: 121,161,269 (GRCm38)	T320A	possibly damaging	Het
Vmn1r34	A	T	6: 66,637,496 (GRCm38)	M86K	probably damaging	Het
Vsig10	A	G	5: 117,318,815 (GRCm38)		probably benign	Het
Zbtb41	T	A	1: 139,440,394 (GRCm38)	C607S	probably benign	Het

Other mutations in Dnmbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00477:Dnmbp	APN	19	43,902,479 (GRCm38)	missense	probably damaging	1.00
IGL01301:Dnmbp	APN	19	43,902,354 (GRCm38)	missense	probably benign	0.04
IGL01443:Dnmbp	APN	19	43,902,870 (GRCm38)	missense	probably damaging	1.00
IGL01569:Dnmbp	APN	19	43,874,856 (GRCm38)	missense	probably benign	0.14
IGL01818:Dnmbp	APN	19	43,901,165 (GRCm38)	missense	probably damaging	1.00
IGL01989:Dnmbp	APN	19	43,867,555 (GRCm38)	missense	probably damaging	1.00
IGL02111:Dnmbp	APN	19	43,867,555 (GRCm38)	missense	probably damaging	1.00
IGL02666:Dnmbp	APN	19	43,854,127 (GRCm38)	splice site	probably benign
IGL02736:Dnmbp	APN	19	43,849,770 (GRCm38)	splice site	probably benign
ANU18:Dnmbp	UTSW	19	43,902,354 (GRCm38)	missense	probably benign	0.04
R0013:Dnmbp	UTSW	19	43,902,231 (GRCm38)	missense	probably benign	0.00
R0013:Dnmbp	UTSW	19	43,902,231 (GRCm38)	missense	probably benign	0.00
R0032:Dnmbp	UTSW	19	43,902,719 (GRCm38)	missense	probably damaging	1.00
R0032:Dnmbp	UTSW	19	43,902,719 (GRCm38)	missense	probably damaging	1.00
R0101:Dnmbp	UTSW	19	43,874,160 (GRCm38)	missense	possibly damaging	0.94
R0129:Dnmbp	UTSW	19	43,850,027 (GRCm38)	missense	probably benign	0.03
R0288:Dnmbp	UTSW	19	43,902,459 (GRCm38)	missense	possibly damaging	0.77
R0322:Dnmbp	UTSW	19	43,854,846 (GRCm38)	missense	probably damaging	1.00
R0426:Dnmbp	UTSW	19	43,852,436 (GRCm38)	splice site	probably benign
R0432:Dnmbp	UTSW	19	43,854,857 (GRCm38)	nonsense	probably null
R0497:Dnmbp	UTSW	19	43,856,640 (GRCm38)	splice site	probably benign
R1306:Dnmbp	UTSW	19	43,901,779 (GRCm38)	missense	probably benign	0.00
R1800:Dnmbp	UTSW	19	43,901,720 (GRCm38)	missense	probably benign	0.00
R1846:Dnmbp	UTSW	19	43,902,747 (GRCm38)	missense	probably damaging	1.00
R1916:Dnmbp	UTSW	19	43,901,568 (GRCm38)	missense	possibly damaging	0.85
R2001:Dnmbp	UTSW	19	43,850,173 (GRCm38)	missense	possibly damaging	0.76
R2131:Dnmbp	UTSW	19	43,854,311 (GRCm38)	missense	probably damaging	1.00
R2156:Dnmbp	UTSW	19	43,901,907 (GRCm38)	missense	possibly damaging	0.95
R2238:Dnmbp	UTSW	19	43,868,864 (GRCm38)	missense	possibly damaging	0.90
R2372:Dnmbp	UTSW	19	43,902,320 (GRCm38)	missense	probably benign	0.01
R4817:Dnmbp	UTSW	19	43,849,972 (GRCm38)	missense	probably benign	0.05
R5093:Dnmbp	UTSW	19	43,849,876 (GRCm38)	missense	probably damaging	0.98
R5249:Dnmbp	UTSW	19	43,902,440 (GRCm38)	missense	probably damaging	0.98
R5970:Dnmbp	UTSW	19	43,854,171 (GRCm38)	missense	probably benign	0.28
R6168:Dnmbp	UTSW	19	43,850,240 (GRCm38)	missense	probably damaging	1.00
R6189:Dnmbp	UTSW	19	43,901,511 (GRCm38)	missense	probably benign	0.05
R6189:Dnmbp	UTSW	19	43,890,309 (GRCm38)	missense	probably benign	0.00
R6239:Dnmbp	UTSW	19	43,848,185 (GRCm38)	missense	probably benign	0.11
R6256:Dnmbp	UTSW	19	43,852,281 (GRCm38)	missense	probably damaging	1.00
R6461:Dnmbp	UTSW	19	43,867,525 (GRCm38)	critical splice donor site	probably null
R6599:Dnmbp	UTSW	19	43,856,586 (GRCm38)	missense	probably damaging	0.96
R6704:Dnmbp	UTSW	19	43,901,213 (GRCm38)	missense	probably damaging	1.00
R7350:Dnmbp	UTSW	19	43,901,505 (GRCm38)	missense	probably damaging	1.00
R7355:Dnmbp	UTSW	19	43,901,741 (GRCm38)	missense	probably benign
R7409:Dnmbp	UTSW	19	43,890,557 (GRCm38)	missense	unknown
R7548:Dnmbp	UTSW	19	43,889,399 (GRCm38)	missense	probably benign	0.40
R7755:Dnmbp	UTSW	19	43,850,086 (GRCm38)	missense	probably benign
R7814:Dnmbp	UTSW	19	43,854,176 (GRCm38)	missense	probably benign	0.05
R7954:Dnmbp	UTSW	19	43,902,303 (GRCm38)	missense	probably benign
R7955:Dnmbp	UTSW	19	43,902,323 (GRCm38)	missense	probably benign	0.01
R8282:Dnmbp	UTSW	19	43,890,566 (GRCm38)	missense	unknown
R8385:Dnmbp	UTSW	19	43,889,651 (GRCm38)	missense	probably benign	0.01
R8696:Dnmbp	UTSW	19	43,874,223 (GRCm38)	missense	probably damaging	1.00
R8738:Dnmbp	UTSW	19	43,912,238 (GRCm38)	missense	probably damaging	0.98
R8819:Dnmbp	UTSW	19	43,901,415 (GRCm38)	missense	probably benign	0.43
R8824:Dnmbp	UTSW	19	43,849,837 (GRCm38)	missense	probably benign
R8902:Dnmbp	UTSW	19	43,901,786 (GRCm38)	missense	probably benign	0.00
R8906:Dnmbp	UTSW	19	43,890,242 (GRCm38)	missense	probably benign	0.01
R8977:Dnmbp	UTSW	19	43,852,312 (GRCm38)	missense	probably damaging	1.00
R9628:Dnmbp	UTSW	19	43,870,207 (GRCm38)	missense	probably damaging	0.99
R9635:Dnmbp	UTSW	19	43,867,535 (GRCm38)	missense	probably benign	0.39
R9771:Dnmbp	UTSW	19	43,866,592 (GRCm38)	missense	probably damaging	0.96
Z1088:Dnmbp	UTSW	19	43,902,122 (GRCm38)	missense	probably benign	0.00
Z1088:Dnmbp	UTSW	19	43,874,984 (GRCm38)	missense	probably benign	0.01
Z1176:Dnmbp	UTSW	19	43,889,367 (GRCm38)	missense	probably benign	0.12
Z1176:Dnmbp	UTSW	19	43,866,688 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCCTGTGACGCTGTGGTTATATCTG -3'
(R):5'- TCCCCAAGGACTCTGAAAGCTCTG -3'

Sequencing Primer
(F):5'- TGGAATGACCAACCTTGGGC -3'
(R):5'- AAGCTCTGTGGGCAAGTC -3'

Posted On

2014-05-23