Mutagenetix > Incidental Mutations

Incidental Mutation 'R4226:Dnm1l'

320056

Institutional Source

Beutler Lab

Gene Symbol

Dnm1l

Ensembl Gene

ENSMUSG00000022789

Gene Name

dynamin 1-like

Synonyms

6330417M19Rik, python, Dnmlp1, Drp1

MMRRC Submission

041046-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4226 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

16312230-16358959 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 16314387 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 653 (H653Q)

Ref Sequence

ENSEMBL: ENSMUSP00000093945 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023477] [ENSMUST00000059955] [ENSMUST00000096229] [ENSMUST00000115749] [ENSMUST00000159683] [ENSMUST00000230022] [ENSMUST00000230980]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023477
AA Change: H640Q

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000023477
Gene: ENSMUSG00000022789
AA Change: H640Q

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: ENSMUST00000059955

SMART Domains

Protein: ENSMUSP00000055277
Gene: ENSMUSG00000022792

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_1b	64	370	5.9e-74	PFAM
Blast:S4	403	466	1e-10	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096229
AA Change: H653Q

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000093945
Gene: ENSMUSG00000022789
AA Change: H653Q

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: H528Q

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000111415
Gene: ENSMUSG00000022789
AA Change: H528Q

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

probably benign
Transcript: ENSMUST00000159683

SMART Domains

Protein: ENSMUSP00000124606
Gene: ENSMUSG00000022792

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_1b	64	332	1.4e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000230022
AA Change: H553Q

PolyPhen 2 Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230958

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230980
AA Change: H657Q

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.3%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	T	A	5: 146,504,880	V279E	possibly damaging	Het
Ache	T	C	5: 137,290,890	V286A	possibly damaging	Het
Amotl1	T	C	9: 14,593,678	N115S	probably benign	Het
Aoah	A	T	13: 20,979,526	Y333F	possibly damaging	Het
Ap4m1	A	T	5: 138,172,817	R74*	probably null	Het
Arhgef5	C	T	6: 43,279,498	A1180V	probably damaging	Het
Birc6	T	C	17: 74,619,840		probably null	Het
Capn11	A	G	17: 45,642,466		probably null	Het
Ccdc146	T	A	5: 21,322,758	I187L	probably benign	Het
Cfh	A	T	1: 140,108,926	C360S	probably damaging	Het
Csmd1	T	C	8: 16,000,490	N2249D	probably damaging	Het
Cyb5r4	T	G	9: 87,057,229	I355S	probably damaging	Het
Frmd4a	C	T	2: 4,333,078	R32C	probably benign	Het
Gm16503	C	T	4: 147,541,268	S73L	unknown	Het
Hnrnpll	A	T	17: 80,049,805		probably null	Het
Igf1r	T	A	7: 68,195,078	Y866*	probably null	Het
Lct	T	C	1: 128,304,226	M629V	probably damaging	Het
Mc1r	A	G	8: 123,407,856	N116S	possibly damaging	Het
Micu2	T	C	14: 57,932,285	K203E	possibly damaging	Het
Mybpc1	C	T	10: 88,573,525	W36*	probably null	Het
Nsd1	C	T	13: 55,260,401	T1286I	probably damaging	Het
Olfr444	A	G	6: 42,955,755	T86A	probably benign	Het
Olfr606	T	C	7: 103,451,577	M80T	probably benign	Het
Pnpla3	C	A	15: 84,179,190	N256K	probably benign	Het
Polh	A	G	17: 46,172,594	S582P	probably benign	Het
Rnaseh2a	G	A	8: 84,960,073	T149I	possibly damaging	Het
Ryr1	A	C	7: 29,062,151	Y3190*	probably null	Het
Sec31b	T	A	19: 44,531,710	M212L	probably benign	Het
Smc4	A	G	3: 69,031,467	E950G	probably benign	Het
Tlr1	A	T	5: 64,925,717	S506T	probably damaging	Het
Tmem181a	T	A	17: 6,295,786	L185H	probably damaging	Het
Tmem236	G	T	2: 14,174,626	E13*	probably null	Het
Tmprss6	C	T	15: 78,446,699	V43M	probably damaging	Het
Vegfc	A	G	8: 54,159,410	Y156C	probably damaging	Het
Vmn1r39	T	C	6: 66,804,719	H205R	possibly damaging	Het
Wnk2	C	T	13: 49,090,837	D508N	probably damaging	Het
Zan	T	C	5: 137,423,978	N2793D	unknown	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
IGL02684:Dnm1l	APN	16	16321657	missense	possibly damaging	0.95
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
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
R8399:Dnm1l	UTSW	16	16321672	missense	probably damaging	0.98
R8444:Dnm1l	UTSW	16	16341042	missense	probably damaging	1.00
R8536:Dnm1l	UTSW	16	16358775	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TATGTGTACATCCCAGGGAGAAAG -3'
(R):5'- CAAGGATTTTGACTTTGCTTATTGC -3'

Sequencing Primer
(F):5'- AGATTGAGAACAATTTCACAGTTACC -3'
(R):5'- ACTTTGTTTGGACCCATTATCACAG -3'

Posted On

2015-06-12