Mutagenetix > Incidental Mutations

Incidental Mutation 'R8319:Atl1'

641874

Institutional Source

Beutler Lab

Gene Symbol

Atl1

Ensembl Gene

ENSMUSG00000021066

Gene Name

atlastin GTPase 1

Synonyms

AD-FSP, Spg3a, FSP1, SPG3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.390) question?

Stock #

R8319 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69892614-69966417 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69955319 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 351 (T351S)

Ref Sequence

ENSEMBL: ENSMUSP00000021466 (fasta)

Gene Model

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

AlphaFold

Q8BH66

Predicted Effect

probably damaging
Transcript: ENSMUST00000021466
AA Change: T351S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021466
Gene: ENSMUSG00000021066
AA Change: T351S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	T	13: 59,690,672	D115E	probably benign	Het
Abcc1	T	A	16: 14,396,451	L197Q	probably damaging	Het
Adamts14	T	G	10: 61,221,927	N547T	probably benign	Het
Ampd3	T	A	7: 110,795,775	S301R	probably benign	Het
Atg9a	G	A	1: 75,185,698	Q523*	probably null	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
Cacna1c	T	C	6: 118,637,774	I1315V		Het
Ccdc109b	A	G	3: 129,933,679	F93L	probably damaging	Het
Col12a1	C	T	9: 79,648,697	G2013R	probably damaging	Het
Cpne2	A	G	8: 94,553,412	D153G	probably benign	Het
Cryzl1	T	C	16: 91,692,363	S205G	probably benign	Het
Cux1	C	T	5: 136,565,397	A5T	probably benign	Het
Ddx60	T	C	8: 61,942,635		probably null	Het
Dnajc13	G	A	9: 104,190,391	P1190S	probably benign	Het
Fbxw7	T	A	3: 84,974,552	V526E		Het
Fig4	C	A	10: 41,263,101	G369C	probably damaging	Het
Gabra1	C	T	11: 42,135,488	A326T	probably damaging	Het
Gbe1	G	A	16: 70,488,076	G429S	probably benign	Het
Gm340	T	A	19: 41,582,904	S179T	probably damaging	Het
Gtf3c5	A	T	2: 28,570,494	H364Q	probably benign	Het
Hcfc2	T	A	10: 82,738,367	I125N	probably damaging	Het
Hnrnpul1	A	T	7: 25,754,477	D53E	probably benign	Het
Il18	A	T	9: 50,581,518	D128V	possibly damaging	Het
Intu	T	A	3: 40,653,772	S71R	probably damaging	Het
Klhl6	T	C	16: 19,957,190	E206G	possibly damaging	Het
Mdga2	T	C	12: 67,221,029	Y5C	unknown	Het
Naip1	C	A	13: 100,429,213	V354L	probably benign	Het
Naip5	A	G	13: 100,221,659	V1023A	probably benign	Het
Ndufaf1	A	G	2: 119,660,087	L166P	probably damaging	Het
Ninl	A	T	2: 150,959,907	L147H	probably damaging	Het
Olfr1259	A	G	2: 89,943,680	V145A	possibly damaging	Het
Olfr64	A	G	7: 103,893,429	I102T	probably damaging	Het
Otogl	C	T	10: 107,853,266		probably null	Het
Otulin	AT	ATT	15: 27,606,318		probably null	Het
Phf11b	A	C	14: 59,338,697	L30R	probably damaging	Het
Prdm13	G	T	4: 21,679,327	H388N	unknown	Het
Pwwp2b	T	C	7: 139,255,183	V180A	probably damaging	Het
Reep4	T	A	14: 70,546,511	S23T	probably damaging	Het
Rusc2	T	A	4: 43,425,378	L1161Q	probably damaging	Het
Scgb1b3	G	A	7: 31,375,979		probably null	Het
Scn10a	G	T	9: 119,670,389	N279K	probably benign	Het
Smurf2	A	G	11: 106,824,752	L643S	probably damaging	Het
Sox12	G	A	2: 152,397,272	P143S	unknown	Het
Specc1	C	T	11: 62,118,675	T339I	possibly damaging	Het
Tas2r139	T	C	6: 42,141,786	V284A	probably benign	Het
Thumpd3	T	A	6: 113,063,146	C330*	probably null	Het
Ttc26	T	A	6: 38,405,945	H338Q	probably damaging	Het
Ttn	A	G	2: 76,706,954	S34877P	possibly damaging	Het
Zfp568	T	C	7: 29,998,204	S104P	possibly damaging	Het
Zfp933	G	A	4: 147,828,453	H50Y	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
IGL03282:Atl1	APN	12	69954464	missense	possibly damaging	0.87
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
R8843:Atl1	UTSW	12	69926148	missense	probably damaging	0.98
Z1176:Atl1	UTSW	12	69937075	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- TAAGTAAGCAGTCTTGGCTGTG -3'
(R):5'- GCATGTACATGATGTGAATGTGAC -3'

Sequencing Primer
(F):5'- GCTGTGTGCGCCTTTAAAAG -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'

Posted On

2020-07-28