Mutagenetix > Incidental Mutation

Incidental Mutation 'R6739:Dnm3'

530342

Institutional Source

Beutler Lab

Gene Symbol

Dnm3

Ensembl Gene

ENSMUSG00000040265

Gene Name

dynamin 3

Synonyms

9630020E24Rik, B230343F03Rik

MMRRC Submission

044857-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6739 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

161810022-162305603 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 162305352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 14 (N14S)

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: N14S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000064538
Gene: ENSMUSG00000040265
AA Change: N14S

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: N14S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000083241
Gene: ENSMUSG00000040265
AA Change: N14S

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

0.6023

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

97% (33/34)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	A	G	16: 4,236,658 (GRCm39)	V14A	probably benign	Het
Ank2	A	T	3: 126,873,643 (GRCm39)	N59K	probably damaging	Het
Ano4	T	C	10: 88,863,114 (GRCm39)	Y286C	probably damaging	Het
Arhgap21	G	A	2: 20,885,543 (GRCm39)	H545Y	possibly damaging	Het
Arid1a	T	A	4: 133,414,937 (GRCm39)	S1152C	unknown	Het
Cfap73	T	C	5: 120,768,258 (GRCm39)	T167A	probably benign	Het
Ctbs	A	T	3: 146,165,254 (GRCm39)		probably null	Het
Dmgdh	T	A	13: 93,857,123 (GRCm39)	N742K	probably benign	Het
Dmxl1	T	C	18: 50,011,313 (GRCm39)	S1157P	probably benign	Het
Dpp4	C	T	2: 62,217,439 (GRCm39)	V53I	probably benign	Het
Etl4	A	G	2: 20,718,246 (GRCm39)	N329S	probably damaging	Het
Fbxw25	A	G	9: 109,480,699 (GRCm39)	V327A	probably benign	Het
Gsg1	T	A	6: 135,214,612 (GRCm39)	Q299L	probably damaging	Het
Igsf23	A	G	7: 19,678,673 (GRCm39)	L39P	probably damaging	Het
Il17rd	A	G	14: 26,821,488 (GRCm39)	R261G	possibly damaging	Het
Krt75	C	T	15: 101,479,503 (GRCm39)	D276N	probably benign	Het
Lox	T	C	18: 52,660,031 (GRCm39)	T268A	possibly damaging	Het
Mroh4	T	C	15: 74,481,568 (GRCm39)	S825G	probably benign	Het
Nlrp9c	T	C	7: 26,084,850 (GRCm39)	D243G	probably damaging	Het
Or10a5	T	C	7: 106,636,018 (GRCm39)	Y219H	probably damaging	Het
Or1x6	T	A	11: 50,939,564 (GRCm39)	V210E	probably damaging	Het
Picalm	C	A	7: 89,825,916 (GRCm39)	T131N	probably damaging	Het
Pitpnm1	T	A	19: 4,160,522 (GRCm39)	L781H	probably damaging	Het
Proz	A	T	8: 13,123,451 (GRCm39)	I241F	possibly damaging	Het
Rb1cc1	A	G	1: 6,304,454 (GRCm39)	D67G	probably damaging	Het
Rnf213	T	A	11: 119,333,097 (GRCm39)	C2769S	probably damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Scn8a	T	C	15: 100,913,836 (GRCm39)	I1076T	possibly damaging	Het
Snrnp70	A	T	7: 45,036,843 (GRCm39)	D100E	probably damaging	Het
Triobp	T	A	15: 78,850,566 (GRCm39)	L240Q	possibly damaging	Het
Vmn2r5	A	G	3: 64,398,637 (GRCm39)	S781P	probably damaging	Het
Zfp451	A	G	1: 33,842,675 (GRCm39)		probably benign	Het
Zfta	C	T	19: 7,398,712 (GRCm39)	R243*	probably null	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
R6473:Dnm3	UTSW	1	162,305,274 (GRCm39)	missense	probably damaging	1.00
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
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'- ATGTTCCAACGGCCTGAAGC -3'
(R):5'- TGAGCTGTCAGGATCCTAGCAG -3'

Sequencing Primer
(F):5'- ACGGCCTGAAGCACGGG -3'
(R):5'- ATCCTAGCAGTGGGAGGC -3'

Posted On

2018-08-01