Mutagenetix > Incidental Mutation

Incidental Mutation 'R6473:Dnm3'

520314

Institutional Source

Beutler Lab

Gene Symbol

Dnm3

Ensembl Gene

ENSMUSG00000040265

Gene Name

dynamin 3

Synonyms

9630020E24Rik, B230343F03Rik

MMRRC Submission

044606-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6473 (G1)

Quality Score

143.008

Status

Validated

Chromosome

Chromosomal Location

161810022-162305603 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 162305274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 40 (Q40L)

Ref Sequence

ENSEMBL: ENSMUSP00000083241 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070330] [ENSMUST00000086074]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000070330
AA Change: Q40L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000064538
Gene: ENSMUSG00000040265
AA Change: Q40L

Domain	Start	End	E-Value	Type
DYNc	6	245	1.48e-182	SMART
PH	516	623	1.58e-11	SMART
GED	644	735	6.82e-33	SMART
low complexity region	738	751	N/A	INTRINSIC
low complexity region	756	771	N/A	INTRINSIC
low complexity region	799	812	N/A	INTRINSIC
low complexity region	824	852	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000086074
AA Change: Q40L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000083241
Gene: ENSMUSG00000040265
AA Change: Q40L

Domain	Start	End	E-Value	Type
DYNc	6	245	1.48e-182	SMART
PH	516	623	1.58e-11	SMART
GED	648	739	6.82e-33	SMART
low complexity region	742	755	N/A	INTRINSIC
low complexity region	760	775	N/A	INTRINSIC
low complexity region	803	816	N/A	INTRINSIC
low complexity region	828	856	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159707

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161155

Meta Mutation Damage Score

0.9327

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 96.9%
20x: 89.9%

Validation Efficiency

95% (36/38)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of guanosine triphosphate (GTP)-binding proteins that associate with microtubules and are involved in vesicular transport. The encoded protein functions in the development of megakaryocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a targeted allele are viable and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	T	C	16: 85,596,531 (GRCm39)	D106G	probably damaging	Het
Adat3	A	G	10: 80,442,801 (GRCm39)	D213G	probably damaging	Het
Akt1	T	C	12: 112,628,694 (GRCm39)	D32G	probably damaging	Het
Ampd1	C	T	3: 103,002,962 (GRCm39)	R61*	probably null	Het
Ash2l	T	A	8: 26,325,008 (GRCm39)	T184S	probably damaging	Het
B3galnt1	T	C	3: 69,482,673 (GRCm39)	N196S	possibly damaging	Het
Chmp2b	C	T	16: 65,343,758 (GRCm39)	G96S	probably damaging	Het
Cyp2d26	T	C	15: 82,675,968 (GRCm39)	N248S	probably benign	Het
Cyp46a1	G	T	12: 108,321,734 (GRCm39)	R320L	possibly damaging	Het
Dact1	A	G	12: 71,364,472 (GRCm39)	T418A	probably benign	Het
Ddx3y	T	C	Y: 1,265,971 (GRCm39)	Y342C	possibly damaging	Homo
Eif2s1	T	C	12: 78,927,999 (GRCm39)	I225T	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Eps8	A	T	6: 137,456,096 (GRCm39)	I795N	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fbxw7	T	C	3: 84,859,687 (GRCm39)		probably benign	Het
Gba1	C	T	3: 89,111,388 (GRCm39)	P51L	probably benign	Het
Idh3b	AG	AGCACCACAACTG	2: 130,121,593 (GRCm39)		probably null	Het
Kalrn	A	G	16: 34,025,672 (GRCm39)	I551T	probably damaging	Het
Madd	T	C	2: 90,997,404 (GRCm39)	T755A	probably benign	Het
Mrps31	A	G	8: 22,904,881 (GRCm39)	D90G	probably benign	Het
Or14j4	T	A	17: 37,920,887 (GRCm39)	T252S	possibly damaging	Het
Or5h23	A	T	16: 58,906,406 (GRCm39)	L147M	probably benign	Het
P2ry12	T	A	3: 59,124,932 (GRCm39)	I248F	probably benign	Het
Ptgfrn	T	C	3: 100,952,955 (GRCm39)	R760G	probably damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Homo
Slpi	T	C	2: 164,196,846 (GRCm39)	Y116C	probably damaging	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Terb1	T	A	8: 105,199,669 (GRCm39)	E425V	probably damaging	Het
Thbs2	A	G	17: 14,906,058 (GRCm39)	S281P	probably benign	Het
Tnik	A	G	3: 28,317,792 (GRCm39)	M1V	probably null	Het
Usp16	G	A	16: 87,280,023 (GRCm39)	S741N	probably benign	Het
Usp48	T	C	4: 137,336,419 (GRCm39)		probably null	Het
Vipr1	T	C	9: 121,497,621 (GRCm39)	S380P	probably damaging	Het
Vmn1r21	A	T	6: 57,820,583 (GRCm39)	I287K	probably damaging	Het
Zfp157	T	C	5: 138,454,188 (GRCm39)	C129R	probably damaging	Het

Other mutations in Dnm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00552:Dnm3	APN	1	161,839,495 (GRCm39)	missense	probably damaging	1.00
IGL02444:Dnm3	APN	1	161,838,444 (GRCm39)	missense	possibly damaging	0.46
IGL02481:Dnm3	APN	1	161,838,471 (GRCm39)	missense	probably damaging	0.99
IGL02623:Dnm3	APN	1	162,183,001 (GRCm39)	missense	probably damaging	0.99
IGL03132:Dnm3	APN	1	161,838,674 (GRCm39)	critical splice acceptor site	probably null
IGL03330:Dnm3	APN	1	162,148,560 (GRCm39)	missense	probably benign	0.00
fever	UTSW	1	162,148,696 (GRCm39)	splice site	probably null
nobel	UTSW	1	162,305,274 (GRCm39)	missense	probably damaging	1.00
splotare	UTSW	1	162,148,556 (GRCm39)	missense	probably damaging	0.98
LCD18:Dnm3	UTSW	1	162,234,130 (GRCm39)	intron	probably benign
R0066:Dnm3	UTSW	1	162,234,930 (GRCm39)	missense	probably damaging	0.98
R0066:Dnm3	UTSW	1	162,234,930 (GRCm39)	missense	probably damaging	0.98
R0240:Dnm3	UTSW	1	162,181,194 (GRCm39)	missense	probably benign	0.00
R0240:Dnm3	UTSW	1	162,181,194 (GRCm39)	missense	probably benign	0.00
R0968:Dnm3	UTSW	1	161,847,388 (GRCm39)	splice site	probably benign
R1161:Dnm3	UTSW	1	162,181,143 (GRCm39)	missense	probably benign	0.06
R1680:Dnm3	UTSW	1	161,838,545 (GRCm39)	missense	probably benign	0.12
R1747:Dnm3	UTSW	1	162,141,153 (GRCm39)	missense	probably damaging	1.00
R1881:Dnm3	UTSW	1	162,305,517 (GRCm39)	start gained	probably benign
R1997:Dnm3	UTSW	1	162,181,281 (GRCm39)	missense	possibly damaging	0.60
R2157:Dnm3	UTSW	1	162,135,462 (GRCm39)	missense	possibly damaging	0.95
R2270:Dnm3	UTSW	1	162,305,358 (GRCm39)	missense	probably damaging	1.00
R2897:Dnm3	UTSW	1	162,113,643 (GRCm39)	splice site	probably benign
R3018:Dnm3	UTSW	1	162,149,328 (GRCm39)	nonsense	probably null
R3851:Dnm3	UTSW	1	162,148,696 (GRCm39)	splice site	probably null
R3861:Dnm3	UTSW	1	162,138,974 (GRCm39)	missense	possibly damaging	0.79
R3930:Dnm3	UTSW	1	161,911,699 (GRCm39)	missense	probably damaging	1.00
R4432:Dnm3	UTSW	1	161,819,566 (GRCm39)	intron	probably benign
R5318:Dnm3	UTSW	1	161,839,376 (GRCm39)	nonsense	probably null
R5361:Dnm3	UTSW	1	161,838,471 (GRCm39)	missense	probably damaging	0.99
R5606:Dnm3	UTSW	1	162,113,587 (GRCm39)	missense	probably damaging	0.99
R5783:Dnm3	UTSW	1	162,183,040 (GRCm39)	missense	possibly damaging	0.70
R6019:Dnm3	UTSW	1	161,962,070 (GRCm39)	missense	probably damaging	0.99
R6072:Dnm3	UTSW	1	161,838,637 (GRCm39)	small deletion	probably benign
R6086:Dnm3	UTSW	1	162,148,602 (GRCm39)	missense	probably damaging	0.99
R6110:Dnm3	UTSW	1	161,838,637 (GRCm39)	small deletion	probably benign
R6158:Dnm3	UTSW	1	162,148,556 (GRCm39)	missense	probably damaging	0.98
R6499:Dnm3	UTSW	1	162,141,164 (GRCm39)	missense	probably damaging	1.00
R6702:Dnm3	UTSW	1	162,146,256 (GRCm39)	missense	probably benign	0.04
R6703:Dnm3	UTSW	1	162,146,256 (GRCm39)	missense	probably benign	0.04
R6739:Dnm3	UTSW	1	162,305,352 (GRCm39)	missense	probably damaging	0.99
R6811:Dnm3	UTSW	1	162,148,652 (GRCm39)	missense	probably damaging	0.96
R6915:Dnm3	UTSW	1	162,145,966 (GRCm39)	splice site	probably null
R6946:Dnm3	UTSW	1	162,141,224 (GRCm39)	missense	possibly damaging	0.91
R7062:Dnm3	UTSW	1	161,962,060 (GRCm39)	nonsense	probably null
R7067:Dnm3	UTSW	1	162,148,540 (GRCm39)	missense	probably damaging	1.00
R7071:Dnm3	UTSW	1	161,847,412 (GRCm39)	missense	probably damaging	0.99
R7468:Dnm3	UTSW	1	162,149,198 (GRCm39)	splice site	probably null
R7521:Dnm3	UTSW	1	161,962,113 (GRCm39)	missense	probably damaging	1.00
R7583:Dnm3	UTSW	1	162,305,343 (GRCm39)	missense	possibly damaging	0.93
R7667:Dnm3	UTSW	1	161,839,399 (GRCm39)	missense	probably damaging	1.00
R7711:Dnm3	UTSW	1	161,819,622 (GRCm39)	missense	possibly damaging	0.83
R7837:Dnm3	UTSW	1	161,819,619 (GRCm39)	missense	possibly damaging	0.94
R7838:Dnm3	UTSW	1	161,819,619 (GRCm39)	missense	possibly damaging	0.94
R7900:Dnm3	UTSW	1	162,182,940 (GRCm39)	missense	probably benign	0.00
R7939:Dnm3	UTSW	1	162,123,165 (GRCm39)	missense	possibly damaging	0.91
R8059:Dnm3	UTSW	1	161,911,708 (GRCm39)	missense	probably damaging	1.00
R8123:Dnm3	UTSW	1	161,838,672 (GRCm39)	missense	probably benign	0.01
R8246:Dnm3	UTSW	1	162,135,486 (GRCm39)	missense	probably damaging	1.00
R8249:Dnm3	UTSW	1	162,305,312 (GRCm39)	nonsense	probably null
R8511:Dnm3	UTSW	1	162,113,611 (GRCm39)	missense	possibly damaging	0.69
R8900:Dnm3	UTSW	1	162,135,445 (GRCm39)	missense	probably benign	0.17
R8976:Dnm3	UTSW	1	162,135,505 (GRCm39)	missense	probably damaging	1.00
R9455:Dnm3	UTSW	1	162,148,524 (GRCm39)	missense	possibly damaging	0.88
R9604:Dnm3	UTSW	1	161,838,584 (GRCm39)	missense	possibly damaging	0.55
R9617:Dnm3	UTSW	1	162,149,354 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTTGTATGGCAGGATGAAAGGC -3'
(R):5'- TCACACAGTCGAACAGGGAC -3'

Sequencing Primer
(F):5'- TCTAGAAACACTAGTGCTCTGC -3'
(R):5'- ACCTGTGGGGCAGTTGGC -3'

Posted On

2018-06-06