Mutagenetix > Incidental Mutation

Incidental Mutation 'R3851:Dnm3'

275906

Institutional Source

Beutler Lab

Gene Symbol

Dnm3

Ensembl Gene

ENSMUSG00000040265

Gene Name

dynamin 3

Synonyms

9630020E24Rik, B230343F03Rik

MMRRC Submission

040899-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3851 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

161810022-162305603 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 162148696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000083241 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000070330

SMART Domains

Protein: ENSMUSP00000064538
Gene: ENSMUSG00000040265

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 null
Transcript: ENSMUST00000086074

SMART Domains

Protein: ENSMUSP00000083241
Gene: ENSMUSG00000040265

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

probably null
Transcript: ENSMUST00000086074

SMART Domains

Protein: ENSMUSP00000083241
Gene: ENSMUSG00000040265

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: ENSMUST00000160695

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161155

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (36/36)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap1	G	A	7: 101,039,372 (GRCm39)	W544*	probably null	Het
AY358078	A	G	14: 52,043,010 (GRCm39)	T233A	unknown	Het
Bcl9	G	A	3: 97,116,969 (GRCm39)	P575L	probably damaging	Het
Calcr	T	C	6: 3,693,735 (GRCm39)	Y353C	probably damaging	Het
Cry1	C	A	10: 84,982,363 (GRCm39)	A328S	probably benign	Het
Dclre1a	A	T	19: 56,529,939 (GRCm39)	N799K	probably damaging	Het
Dock9	A	T	14: 121,866,498 (GRCm39)		probably null	Het
Dpysl4	C	T	7: 138,680,851 (GRCm39)	T575M	probably damaging	Het
Drc7	C	T	8: 95,788,464 (GRCm39)	Q276*	probably null	Het
Dzip3	T	C	16: 48,770,376 (GRCm39)	T389A	possibly damaging	Het
Flnc	T	A	6: 29,453,718 (GRCm39)	L1801Q	probably damaging	Het
Fmo9	A	G	1: 166,490,936 (GRCm39)	L463P	probably benign	Het
Fnip2	G	C	3: 79,369,464 (GRCm39)	H1074D	probably damaging	Het
Golga2	A	G	2: 32,195,623 (GRCm39)	E806G	probably benign	Het
H2-Q5	T	A	17: 35,613,115 (GRCm39)	M5K	unknown	Het
Il27ra	C	T	8: 84,767,317 (GRCm39)	E169K	probably benign	Het
Insyn2a	A	G	7: 134,486,255 (GRCm39)	V432A	probably benign	Het
Itpkc	A	T	7: 26,927,037 (GRCm39)	N292K	probably benign	Het
Lhfpl3	G	A	5: 22,980,985 (GRCm39)		probably benign	Het
Map4k3	A	G	17: 80,951,752 (GRCm39)		probably benign	Het
Mas1	C	G	17: 13,060,880 (GRCm39)	S181T	probably benign	Het
Ntn1	C	G	11: 68,276,619 (GRCm39)	D110H	probably damaging	Het
Nubpl	T	C	12: 52,190,810 (GRCm39)	M65T	probably damaging	Het
Or6c76b	A	C	10: 129,693,016 (GRCm39)	M210L	probably benign	Het
Parp14	A	G	16: 35,674,118 (GRCm39)	I1042T	possibly damaging	Het
Pcdh15	C	A	10: 74,467,518 (GRCm39)	S1779Y	probably damaging	Het
Pgm5	C	T	19: 24,797,567 (GRCm39)	R205Q	probably damaging	Het
Radil	T	C	5: 142,492,752 (GRCm39)	D292G	probably damaging	Het
Rbp3	C	A	14: 33,677,464 (GRCm39)	H471N	probably damaging	Het
Rgs14	T	A	13: 55,527,427 (GRCm39)	L221Q	possibly damaging	Het
Rrm2	G	T	12: 24,758,598 (GRCm39)	A47S	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slco4a1	C	T	2: 180,105,884 (GRCm39)	T22M	probably benign	Het
Sult2b1	G	T	7: 45,379,461 (GRCm39)		probably benign	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Ttn	G	T	2: 76,581,678 (GRCm39)	L23072I	possibly damaging	Het
Zfp521	T	C	18: 13,850,808 (GRCm39)		probably benign	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
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
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'- AGAGTGAGTCTTACCTGGGC -3'
(R):5'- TGATGTCAACGATCTATCAATAGCC -3'

Sequencing Primer
(F):5'- CAGCAATGTGTCTGTACG -3'
(R):5'- GATCTATCAATAGCCAAACCAGTGG -3'

Posted On

2015-04-06