Mutagenetix > Incidental Mutation

Incidental Mutation 'R1916:Dnmbp'

214916

Institutional Source

Beutler Lab

Gene Symbol

Dnmbp

Ensembl Gene

ENSMUSG00000025195

Gene Name

dynamin binding protein

Synonyms

2410003L07Rik, 2410003M15Rik, Tuba

MMRRC Submission

039934-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1916 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43835260-43928630 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 43890007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 587 (I587L)

Ref Sequence

ENSEMBL: ENSMUSP00000148708 (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: I587L

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000026209
Gene: ENSMUSG00000025195
AA Change: I587L

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

possibly damaging
Transcript: ENSMUST00000212032
AA Change: I587L

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212396
AA Change: I587L

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.1300

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.5%

Validation Efficiency

99% (97/98)

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
Aadacl2fm2	A	G	3: 59,652,924 (GRCm39)	K121R	possibly damaging	Het
Abca13	G	T	11: 9,484,456 (GRCm39)	W4342L	probably damaging	Het
Abcg8	A	T	17: 84,995,958 (GRCm39)		probably null	Het
Acaa1b	A	G	9: 118,985,730 (GRCm39)	L65P	probably damaging	Het
Adam6a	G	T	12: 113,509,556 (GRCm39)	R643L	probably benign	Het
Agbl2	A	T	2: 90,645,785 (GRCm39)	R839S	possibly damaging	Het
Ambra1	A	T	2: 91,741,806 (GRCm39)	N967I	probably damaging	Het
Ankrd17	T	A	5: 90,408,000 (GRCm39)	N1406Y	probably damaging	Het
Armh4	T	C	14: 50,005,932 (GRCm39)	T588A	probably damaging	Het
Bbx	G	T	16: 50,086,608 (GRCm39)	S96Y	probably damaging	Het
Cdh12	T	A	15: 21,520,336 (GRCm39)		probably null	Het
Cdh9	A	C	15: 16,823,361 (GRCm39)	R114S	probably benign	Het
Cenpo	T	G	12: 4,266,683 (GRCm39)	I142L	probably benign	Het
Cfap69	T	C	5: 5,713,970 (GRCm39)	K21E	probably damaging	Het
Chmp4c	A	T	3: 10,454,996 (GRCm39)	D221V	probably benign	Het
Cstf3	T	A	2: 104,486,101 (GRCm39)	V447D	possibly damaging	Het
Cwc22	A	T	2: 77,735,819 (GRCm39)	C566S	probably benign	Het
Dgkh	A	G	14: 78,832,663 (GRCm39)	M798T	probably damaging	Het
Dnai2	T	C	11: 114,623,749 (GRCm39)	V4A	possibly damaging	Het
Dnai7	A	C	6: 145,121,926 (GRCm39)	V631G	probably benign	Het
Dock6	A	T	9: 21,724,387 (GRCm39)	M301K	probably damaging	Het
Dock8	T	C	19: 25,038,521 (GRCm39)	M69T	probably benign	Het
Ears2	T	C	7: 121,643,801 (GRCm39)	S386G	probably benign	Het
Ecsit	T	C	9: 21,983,817 (GRCm39)	I371V	probably benign	Het
Eif4a3	T	C	11: 119,184,737 (GRCm39)	I216V	probably benign	Het
Emp1	A	G	6: 135,357,128 (GRCm39)	I69V	probably damaging	Het
Epg5	A	G	18: 78,008,236 (GRCm39)	D788G	probably benign	Het
Eps15	A	G	4: 109,226,171 (GRCm39)	K324E	probably damaging	Het
Extl3	A	G	14: 65,315,071 (GRCm39)	F37S	probably benign	Het
Fam83g	A	G	11: 61,585,994 (GRCm39)	D194G	probably damaging	Het
Gcc2	A	G	10: 58,112,485 (GRCm39)	D1005G	probably damaging	Het
Gm10226	T	A	17: 21,910,916 (GRCm39)	H50Q	possibly damaging	Het
Gm1110	A	T	9: 26,800,934 (GRCm39)	V420E	probably damaging	Het
Gm16503	A	G	4: 147,625,667 (GRCm39)	R54G	unknown	Het
Grin3b	T	C	10: 79,810,432 (GRCm39)	M646T	probably damaging	Het
Grm8	T	C	6: 27,363,583 (GRCm39)	D644G	probably benign	Het
Gtf2i	C	A	5: 134,275,702 (GRCm39)	V660F	probably damaging	Het
Heatr4	G	T	12: 84,002,591 (GRCm39)	Q808K	probably benign	Het
Hif3a	T	C	7: 16,773,581 (GRCm39)	S573G	possibly damaging	Het
Htr2b	C	T	1: 86,027,523 (GRCm39)	V328M	probably damaging	Het
Jph1	T	C	1: 17,162,279 (GRCm39)	T128A	probably damaging	Het
Kcnt1	T	C	2: 25,790,481 (GRCm39)	V481A	probably damaging	Het
Khk	A	G	5: 31,087,962 (GRCm39)	Y212C	probably damaging	Het
Lgi2	T	A	5: 52,703,974 (GRCm39)	Q219L	probably benign	Het
Lipf	T	A	19: 33,943,075 (GRCm39)	Y128N	probably benign	Het
Lipg	A	G	18: 75,094,008 (GRCm39)	V13A	probably benign	Het
Lrrc8e	T	C	8: 4,285,202 (GRCm39)	S476P	probably benign	Het
Map2k7	T	G	8: 4,295,795 (GRCm39)	V425G	probably benign	Het
Mycbp2	A	T	14: 103,422,319 (GRCm39)	S2451R	probably damaging	Het
Mylk3	A	G	8: 86,053,821 (GRCm39)	S629P	probably damaging	Het
Nrp2	A	T	1: 62,801,906 (GRCm39)	I450F	probably damaging	Het
Or4c126	T	C	2: 89,824,148 (GRCm39)	V137A	probably benign	Het
Or8g50	A	G	9: 39,648,918 (GRCm39)	D269G	probably benign	Het
Osbpl11	T	C	16: 33,006,213 (GRCm39)	S14P	probably benign	Het
Osbpl11	T	A	16: 33,030,465 (GRCm39)	V231D	possibly damaging	Het
Parg	T	A	14: 31,930,184 (GRCm39)		probably benign	Het
Pax9	G	T	12: 56,743,923 (GRCm39)	R190L	possibly damaging	Het
Prss12	G	A	3: 123,300,144 (GRCm39)	V752I	probably benign	Het
Pstpip2	A	G	18: 77,922,892 (GRCm39)	N34S	probably damaging	Het
Rarg	T	C	15: 102,160,880 (GRCm39)	D53G	probably benign	Het
Rbak	T	C	5: 143,161,871 (GRCm39)	K53R	probably damaging	Het
Scgn	A	T	13: 24,162,808 (GRCm39)	S107R	probably damaging	Het
Sema3c	A	G	5: 17,932,399 (GRCm39)	Q634R	probably benign	Het
Serpinh1	A	G	7: 98,998,288 (GRCm39)	L114P	probably damaging	Het
Slc35f4	T	C	14: 49,541,380 (GRCm39)		probably benign	Het
Sned1	A	T	1: 93,201,884 (GRCm39)	I617F	probably null	Het
Spata31	C	T	13: 65,070,359 (GRCm39)	R836*	probably null	Het
Spen	A	G	4: 141,199,909 (GRCm39)	L2883P	probably damaging	Het
Stmn3	A	T	2: 180,949,073 (GRCm39)	M140K	possibly damaging	Het
Syn3	A	G	10: 86,190,208 (GRCm39)		probably null	Het
Tamalin	T	C	15: 101,124,850 (GRCm39)		probably benign	Het
Tor4a	A	G	2: 25,085,414 (GRCm39)	V163A	possibly damaging	Het
Ttc12	A	G	9: 49,371,698 (GRCm39)	Y189H	probably damaging	Het
Ubxn7	T	G	16: 32,200,577 (GRCm39)		probably benign	Het
Unc5b	G	A	10: 60,614,027 (GRCm39)	T274I	probably damaging	Het
Upk1b	C	A	16: 38,596,548 (GRCm39)		probably null	Het
Usp18	A	G	6: 121,245,513 (GRCm39)	I296M	probably benign	Het
Usp42	A	G	5: 143,700,811 (GRCm39)	Y1071H	probably damaging	Het
Vil1	A	G	1: 74,457,684 (GRCm39)	T106A	probably benign	Het
Vmn1r42	T	A	6: 89,821,949 (GRCm39)	I207F	probably benign	Het
Vmn1r63	A	G	7: 5,806,225 (GRCm39)	F136L	probably damaging	Het
Vopp1	C	T	6: 57,731,572 (GRCm39)	V140I	probably benign	Het
Wdhd1	T	C	14: 47,496,034 (GRCm39)	D610G	possibly damaging	Het
Wdr48	T	A	9: 119,741,483 (GRCm39)	D142E	probably benign	Het
Whrn	A	G	4: 63,412,969 (GRCm39)	Y10H	probably damaging	Het
Zmat3	A	G	3: 32,397,497 (GRCm39)	V216A	probably benign	Het
Zmym2	C	T	14: 57,197,299 (GRCm39)	R1356W	probably damaging	Het
Zyg11b	A	T	4: 108,129,480 (GRCm39)	L44Q	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
IGL01443:Dnmbp	APN	19	43,891,309 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GTATTCATCCTCTGCTGGGC -3'
(R):5'- GAGAAGGCCTGGCTTACAAG -3'

Sequencing Primer
(F):5'- AGGCAGAGGAGCTGGTC -3'
(R):5'- GCTTACAAGACAGGGGGCC -3'

Posted On

2014-07-14