Mutagenetix > Incidental Mutations

Incidental Mutation 'R5285:Atl1'

403009

Institutional Source

Beutler Lab

Gene Symbol

Atl1

Ensembl Gene

ENSMUSG00000021066

Gene Name

atlastin GTPase 1

Synonyms

AD-FSP, Spg3a, FSP1, SPG3

MMRRC Submission

042869-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5285 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69892614-69966417 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69954499 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 345 (K345R)

Ref Sequence

ENSEMBL: ENSMUSP00000021466 (fasta)

Gene Model

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

AlphaFold

Q8BH66

Predicted Effect

probably benign
Transcript: ENSMUST00000021466
AA Change: K345R

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000021466
Gene: ENSMUSG00000021066
AA Change: K345R

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

Meta Mutation Damage Score

0.1271

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

98% (65/66)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 105,708,465	T12A	probably benign	Het
Acbd6	T	A	1: 155,558,725	S30T	probably benign	Het
Adcy8	G	T	15: 64,767,857	H685N	possibly damaging	Het
Aldh1l1	A	T	6: 90,576,770	K539*	probably null	Het
Ap1m2	G	T	9: 21,305,637	Y134*	probably null	Het
Apobr	A	G	7: 126,585,003		probably benign	Het
Avil	T	C	10: 127,018,459	L765P	probably damaging	Het
Caps2	T	A	10: 112,208,311	Y472N	probably benign	Het
Cd177	A	T	7: 24,746,249	S590T	probably benign	Het
Cep295	T	C	9: 15,322,591	D2223G	probably benign	Het
Cfh	T	C	1: 140,100,898	T493A	probably benign	Het
Chek1	T	C	9: 36,714,452	D299G	probably benign	Het
Cpox	G	A	16: 58,675,286	G322D	probably damaging	Het
Crhr1	A	T	11: 104,170,497	I243F	possibly damaging	Het
Cyp3a11	A	G	5: 145,855,083	V500A	probably benign	Het
Dcdc5	A	T	2: 106,368,155		noncoding transcript	Het
Ergic3	A	G	2: 156,018,037		probably benign	Het
Fabp3-ps1	T	G	10: 86,732,202		probably benign	Het
Gm16432	A	G	1: 178,103,888	K458E	unknown	Het
Gm6445	C	A	19: 9,607,668		noncoding transcript	Het
Gucy2d	C	A	7: 98,458,267		probably null	Het
Ighv1-19-1	C	A	12: 114,704,252		probably benign	Het
Igkv2-116	G	T	6: 68,152,479	R75L	probably benign	Het
Inhbc	C	A	10: 127,357,400	R249L	probably damaging	Het
Lrrn2	T	A	1: 132,939,245	S683T	possibly damaging	Het
Lyst	T	C	13: 13,634,426	V227A	probably benign	Het
Mroh5	TGGAG	TG	15: 73,783,074		probably benign	Het
Msh4	T	C	3: 153,873,713	N587S	probably benign	Het
Mug1	G	A	6: 121,841,107	E126K	probably benign	Het
Nav2	T	C	7: 49,548,234	S1204P	probably damaging	Het
Ncor1	A	G	11: 62,392,649	I413T	probably damaging	Het
Nipa2	A	T	7: 55,933,012	Y328*	probably null	Het
Olfr178	A	T	16: 58,890,108	Y37*	probably null	Het
Olfr195	T	C	16: 59,149,270	L140P	probably damaging	Het
Olfr384	T	A	11: 73,602,941	Y120*	probably null	Het
Olfr593	C	T	7: 103,212,798	R302*	probably null	Het
Olfr645	A	G	7: 104,084,133	*316R	probably null	Het
Pla2g4e	T	C	2: 120,189,504	D155G	probably damaging	Het
Plxnb1	C	T	9: 109,108,459	T1176I	probably damaging	Het
Polg	A	G	7: 79,465,225		probably benign	Het
Prl8a2	G	A	13: 27,350,133		probably null	Het
Prmt7	G	A	8: 106,248,359	R529Q	probably benign	Het
Psg17	T	A	7: 18,820,201	L41F	probably benign	Het
Rad18	T	C	6: 112,686,765	R73G	probably benign	Het
Rhpn2	G	T	7: 35,381,565		probably benign	Het
Robo4	CGG	CG	9: 37,411,490		probably null	Het
Sarm1	A	G	11: 78,497,439	F7S	probably benign	Het
Sgip1	T	A	4: 102,921,477		probably benign	Het
Sh3gl2	A	G	4: 85,376,449	K99R	probably benign	Het
Sorbs1	G	A	19: 40,321,890	T1018I	probably damaging	Het
Spns2	G	A	11: 72,489,479	A106V	possibly damaging	Het
Stab1	A	G	14: 31,143,476		probably benign	Het
Steap3	T	C	1: 120,241,880	D191G	probably damaging	Het
Stxbp5	T	C	10: 9,798,275		probably null	Het
Sycp2	A	T	2: 178,392,398		probably null	Het
Tm6sf1	A	G	7: 81,859,452	S2G	possibly damaging	Het
Usp24	T	A	4: 106,407,033	D1720E	probably benign	Het
Vmn1r200	G	A	13: 22,395,287	E78K	possibly damaging	Het
Vmn2r120	A	G	17: 57,536,703	L47P	probably damaging	Het
Vmn2r14	T	C	5: 109,217,576	N544S	probably damaging	Het
Vwa1	C	T	4: 155,770,895	A254T	probably benign	Het
Zfp7	G	A	15: 76,891,222	R488Q	probably damaging	Het
Zfp940	A	T	7: 29,845,600	L294H	probably 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
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
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'- TCTGAGGAAGGGCAGCATTG -3'
(R):5'- TCTCAACCTAAGTAAAGCTGCTG -3'

Sequencing Primer
(F):5'- TTTCAGAAGGAGCGAACAACTTTAGC -3'
(R):5'- CAACCTAAGTAAAGCTGCTGTGTGC -3'

Posted On

2016-07-22