Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03282:Atl1'

415618

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atl1

Ensembl Gene

ENSMUSG00000021066

Gene Name

atlastin GTPase 1

Synonyms

AD-FSP, Spg3a, FSP1, SPG3

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.347) question?

Stock #

IGL03282

Quality Score

Status

Chromosome

Chromosomal Location

69892614-69966417 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69954464 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 333 (I333M)

Ref Sequence

ENSEMBL: ENSMUSP00000021466 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021466]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021466
AA Change: I333M

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021466
Gene: ENSMUSG00000021066
AA Change: I333M

Domain	Start	End	E-Value	Type
low complexity region	15	27	N/A	INTRINSIC
Pfam:GBP	43	314	2.3e-103	PFAM
low complexity region	350	363	N/A	INTRINSIC
Blast:HAMP	468	519	9e-8	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220935

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222141

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222246

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the dynamin family of GTPases. The encoded protein interacts with tubule-shaping proteins of the endoplasmic reticulum. Mutations in the homologous human gene can cause hereditary spastic paraplegia. [provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygous animals show a gait disturbance characterized by external rotation of the hind feet with footprint analysis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atxn2	A	G	5: 121,785,235	T52A	probably benign	Het
Atxn7	T	A	14: 14,100,564	L750H	probably damaging	Het
Cadps	T	C	14: 12,465,856		probably benign	Het
Cts6	T	A	13: 61,196,447	I264F	possibly damaging	Het
Dnah6	G	T	6: 73,053,647		probably benign	Het
Epg5	A	G	18: 77,986,426	S1335G	probably benign	Het
Gm10073	A	T	8: 106,573,340	V4D	probably benign	Het
Gpld1	T	A	13: 24,971,408	M342K	probably benign	Het
Herc1	T	A	9: 66,451,459	F2607L	probably benign	Het
Ighv2-9-1	T	C	12: 113,769,865	Y112C	probably damaging	Het
Itga4	A	T	2: 79,325,594	H968L	probably damaging	Het
Me1	C	T	9: 86,613,596	R286Q	probably damaging	Het
Med1	G	A	11: 98,156,817	T1051M	probably damaging	Het
Msh2	T	G	17: 87,689,002	D379E	probably benign	Het
Mup4	T	A	4: 59,958,547	M118L	possibly damaging	Het
Ostm1	A	T	10: 42,698,231	S152C	probably damaging	Het
Pla2g1b	A	G	5: 115,470,880	N45D	probably damaging	Het
Rab21	A	G	10: 115,298,898		probably benign	Het
Rapgef4	G	A	2: 72,205,752		probably benign	Het
Slc38a8	G	T	8: 119,499,716	N111K	probably damaging	Het
Snrnp35	A	G	5: 124,490,309	T62A	probably damaging	Het
Strn3	T	C	12: 51,627,209	I540V	probably benign	Het
Tgm1	A	G	14: 55,711,070	V208A	probably damaging	Het
Vmn1r62	A	T	7: 5,675,548	D76V	possibly damaging	Het
Vmn1r90	T	A	7: 14,561,501	H224L	probably benign	Het
Vmn1r90	A	T	7: 14,562,168	S2T	possibly damaging	Het

Other mutations in Atl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00824:Atl1	APN	12	69932238	missense	probably damaging	0.99
IGL02035:Atl1	APN	12	69960544	unclassified	probably benign
IGL02229:Atl1	APN	12	69926025	missense	probably benign	0.01
IGL03374:Atl1	APN	12	69955367	missense	probably damaging	1.00
R1538:Atl1	UTSW	12	69926188	missense	probably benign	0.02
R1819:Atl1	UTSW	12	69963300	missense	probably benign
R1903:Atl1	UTSW	12	69959275	missense	probably damaging	0.98
R1961:Atl1	UTSW	12	69953500	missense	probably benign	0.00
R1990:Atl1	UTSW	12	69963328	missense	probably damaging	1.00
R2126:Atl1	UTSW	12	69931657	splice site	probably null
R3724:Atl1	UTSW	12	69959380	missense	probably damaging	0.99
R4402:Atl1	UTSW	12	69959199	missense	probably benign	0.09
R5241:Atl1	UTSW	12	69959113	missense	possibly damaging	0.52
R5256:Atl1	UTSW	12	69959333	missense	probably damaging	1.00
R5285:Atl1	UTSW	12	69954499	missense	probably benign	0.18
R5866:Atl1	UTSW	12	69926011	missense	probably damaging	0.98
R6001:Atl1	UTSW	12	69932283	missense	possibly damaging	0.92
R6434:Atl1	UTSW	12	69959425	nonsense	probably null
R6677:Atl1	UTSW	12	69953444	missense	probably damaging	0.99
R6728:Atl1	UTSW	12	69947550	missense	possibly damaging	0.95
R6974:Atl1	UTSW	12	69926039	missense	probably damaging	0.99
R7013:Atl1	UTSW	12	69953440	missense	probably damaging	1.00
R7121:Atl1	UTSW	12	69931634	missense	probably damaging	0.99
R7224:Atl1	UTSW	12	69955353	missense	probably benign
R7437:Atl1	UTSW	12	69931622	missense	probably benign	0.37
R8043:Atl1	UTSW	12	69959215	missense	probably damaging	1.00
R8319:Atl1	UTSW	12	69955319	missense	probably damaging	0.99
Z1176:Atl1	UTSW	12	69937075	missense	possibly damaging	0.78

Posted On

2016-08-02