Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02684:Dnm1l'

303474

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dnm1l

Ensembl Gene

ENSMUSG00000022789

Gene Name

dynamin 1-like

Synonyms

6330417M19Rik, python, Dnmlp1, Drp1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02684

Quality Score

Status

Chromosome

Chromosomal Location

16312230-16358959 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 16321657 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 391 (I391N)

Ref Sequence

ENSEMBL: ENSMUSP00000155429 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023477] [ENSMUST00000096229] [ENSMUST00000115749] [ENSMUST00000230022] [ENSMUST00000230980]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023477
AA Change: I489N

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023477
Gene: ENSMUSG00000022789
AA Change: I489N

Domain	Start	End	E-Value	Type
DYNc	1	255	9.83e-124	SMART
low complexity region	556	571	N/A	INTRINSIC
GED	602	693	2.52e-45	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000096229
AA Change: I502N

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000093945
Gene: ENSMUSG00000022789
AA Change: I502N

Domain	Start	End	E-Value	Type
DYNc	1	268	1.75e-120	SMART
low complexity region	569	584	N/A	INTRINSIC
GED	615	706	2.52e-45	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115749
AA Change: I340N

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111415
Gene: ENSMUSG00000022789
AA Change: I340N

Domain	Start	End	E-Value	Type
DYNc	1	261	2.08e-122	SMART
low complexity region	573	588	N/A	INTRINSIC
GED	619	710	2.52e-45	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230022
AA Change: I391N

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230958

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230980
AA Change: I495N

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the dynamin family. The encoded protein is localized to the cytoplasm and mitochondrial membrane, is involved in mitochondrial and peroxisomal division, and is essential for mitochondrial fission. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 2. [provided by RefSeq, Feb 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality at E11.5 with internal hemorrhage and small size. Mice heterozygous for an ENU induced allele have dilated cardiomyopathy and congestive heart failure, homozygous are embryonic lethal with posterior truncation at E11.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	A	T	14: 35,810,063	L185*	probably null	Het
Actrt3	A	T	3: 30,599,691	D53E	probably benign	Het
Ankrd34b	T	C	13: 92,438,508	S83P	probably damaging	Het
Asap1	A	G	15: 64,094,169	V1029A	probably benign	Het
Blk	T	C	14: 63,379,694	E288G	probably benign	Het
Cep192	T	G	18: 67,834,563	V706G	probably damaging	Het
Chd2	T	C	7: 73,475,349	K908E	probably damaging	Het
Fam84a	T	C	12: 14,150,645	D27G	probably damaging	Het
Fmn1	A	G	2: 113,525,277	R688G	unknown	Het
Gdap2	A	G	3: 100,171,020	D100G	probably benign	Het
Gm43638	T	C	5: 87,462,910	I522V	possibly damaging	Het
Gm438	A	G	4: 144,778,185		probably benign	Het
Gsap	A	T	5: 21,242,803		probably null	Het
Hoxd12	A	G	2: 74,675,561	S159G	probably benign	Het
Ints7	A	G	1: 191,613,637		probably null	Het
Iqsec3	G	A	6: 121,412,941	Q524*	probably null	Het
Klra10	T	A	6: 130,281,882	H14L	possibly damaging	Het
Mettl15	T	C	2: 109,131,580	E228G	probably damaging	Het
Olfr466	G	A	13: 65,152,396	M57I	probably damaging	Het
Olfr624	T	C	7: 103,670,384	M216V	probably benign	Het
Pabpc1l	A	G	2: 164,031,277	N156D	probably benign	Het
Pkhd1l1	G	T	15: 44,516,209		probably null	Het
Pm20d1	T	A	1: 131,804,959	N345K	probably benign	Het
Rasgrp1	A	G	2: 117,282,576	V785A	probably benign	Het
Sos2	A	G	12: 69,596,666	L980S	probably damaging	Het
Stam2	A	T	2: 52,719,935	H56Q	probably damaging	Het
Trpm6	T	A	19: 18,802,207		probably benign	Het
Trpm7	A	T	2: 126,846,159	D249E	probably damaging	Het
Vmn1r203	A	T	13: 22,524,369	T107S	possibly damaging	Het
Vmn2r55	A	G	7: 12,670,960	L172P	probably damaging	Het
Vrtn	A	G	12: 84,650,149	R558G	probably benign	Het
Zfp977	A	T	7: 42,583,015	D7E	probably damaging	Het

Other mutations in Dnm1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00675:Dnm1l	APN	16	16333827	critical splice donor site	probably null
IGL00696:Dnm1l	APN	16	16342715	missense	probably benign
IGL01146:Dnm1l	APN	16	16314325	missense	probably benign	0.01
IGL01385:Dnm1l	APN	16	16341453	missense	probably damaging	1.00
IGL01694:Dnm1l	APN	16	16316651	missense	probably benign	0.08
IGL02250:Dnm1l	APN	16	16321686	splice site	probably benign
IGL02335:Dnm1l	APN	16	16342740	intron	probably benign
IGL02345:Dnm1l	APN	16	16329894	missense	possibly damaging	0.61
IGL02403:Dnm1l	APN	16	16336976	missense	possibly damaging	0.78
IGL02869:Dnm1l	APN	16	16341424	nonsense	probably null
IGL03388:Dnm1l	APN	16	16314052	splice site	probably benign
R0068:Dnm1l	UTSW	16	16324019	missense	probably damaging	1.00
R0068:Dnm1l	UTSW	16	16324019	missense	probably damaging	1.00
R1259:Dnm1l	UTSW	16	16324006	missense	possibly damaging	0.67
R1554:Dnm1l	UTSW	16	16341426	missense	probably benign	0.13
R1756:Dnm1l	UTSW	16	16342695	critical splice donor site	probably null
R1913:Dnm1l	UTSW	16	16329966	missense	probably benign	0.45
R2906:Dnm1l	UTSW	16	16314311	missense	probably damaging	0.96
R2907:Dnm1l	UTSW	16	16314311	missense	probably damaging	0.96
R3756:Dnm1l	UTSW	16	16321612	missense	possibly damaging	0.86
R4226:Dnm1l	UTSW	16	16314387	missense	possibly damaging	0.80
R4414:Dnm1l	UTSW	16	16342695	critical splice donor site	probably null
R5287:Dnm1l	UTSW	16	16333868	missense	probably damaging	1.00
R5574:Dnm1l	UTSW	16	16329821	missense	probably damaging	1.00
R5653:Dnm1l	UTSW	16	16319489	missense	probably damaging	1.00
R6113:Dnm1l	UTSW	16	16341003	missense	probably benign	0.00
R6320:Dnm1l	UTSW	16	16332088	missense	probably damaging	1.00
R6644:Dnm1l	UTSW	16	16329873	missense	probably benign	0.14
R6995:Dnm1l	UTSW	16	16329807	nonsense	probably null
R7309:Dnm1l	UTSW	16	16321646	missense	probably damaging	1.00
R7422:Dnm1l	UTSW	16	16318474	missense	probably benign

Posted On

2015-04-16