Mutagenetix > Incidental Mutations

Incidental Mutation 'R8843:Atl1'

674551

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 #

R8843 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69892614-69966417 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69926148 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 81 (S81T)

Ref Sequence

ENSEMBL: ENSMUSP00000021466 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021466] [ENSMUST00000223456]

AlphaFold

Q8BH66

Predicted Effect

probably damaging
Transcript: ENSMUST00000021466
AA Change: S81T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021466
Gene: ENSMUSG00000021066
AA Change: S81T

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

probably damaging
Transcript: ENSMUST00000223456
AA Change: S81T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

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

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	A	C	7: 140,249,000	T191P	possibly damaging	Het
AB124611	C	G	9: 21,529,035	Q106E	probably benign	Het
Abi2	A	G	1: 60,453,729	M387V	probably null	Het
Adra2c	A	T	5: 35,280,363	N160Y	probably damaging	Het
Ager	G	A	17: 34,600,742	R383H	probably benign	Het
Arhgef28	C	T	13: 97,994,049	R427H	probably benign	Het
Ccdc80	T	A	16: 45,127,107		probably benign	Het
Cdh10	T	A	15: 19,013,401	F696I	possibly damaging	Het
Cdk2ap2	T	C	19: 4,097,429	S2P	unknown	Het
Cela1	G	A	15: 100,682,940	T145I	probably benign	Het
Celsr2	A	T	3: 108,396,127		probably benign	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 104,309,702		probably null	Het
Col22a1	A	G	15: 72,006,654	I218T	probably damaging	Het
Copb1	T	C	7: 114,221,700	I785V	possibly damaging	Het
Dnajc16	A	T	4: 141,764,691	V607E	possibly damaging	Het
Dnali1	A	T	4: 125,063,621	L110Q	probably damaging	Het
Epn1	A	G	7: 5,093,376	E223G	probably benign	Het
Erbb3	A	G	10: 128,578,456	L473P	possibly damaging	Het
Fam160a1	A	G	3: 85,661,011	I1067T	possibly damaging	Het
Gadl1	T	A	9: 116,006,501	D332E	probably benign	Het
Gm10801	TC	TCGAC	2: 98,663,806		probably benign	Het
Heg1	A	G	16: 33,750,493	S1188G	probably null	Het
Hipk3	G	A	2: 104,437,897	A575V	probably benign	Het
Htt	T	A	5: 34,889,465	I2375N	possibly damaging	Het
Klhl24	A	T	16: 20,120,230	K512*	probably null	Het
Krtdap	A	T	7: 30,789,527	Y40F	probably damaging	Het
Lhx1	A	T	11: 84,519,629	S381T	probably benign	Het
Lnpep	G	A	17: 17,552,941	P655L	probably damaging	Het
Map6d1	A	G	16: 20,236,636	V150A	probably benign	Het
March10	A	G	11: 105,401,976	S202P	possibly damaging	Het
Med1	A	C	11: 98,189,276	L13R	possibly damaging	Het
Mxi1	G	A	19: 53,371,695	G283S	probably damaging	Het
Myh7	T	G	14: 54,975,295	D1431A	probably damaging	Het
Myo3b	G	T	2: 70,257,981	G863W	probably damaging	Het
Nat8f1	G	T	6: 85,910,925	Q18K	probably benign	Het
Ncaph	A	G	2: 127,108,609	V576A	probably benign	Het
Nfkbia	T	G	12: 55,492,411	D39A	possibly damaging	Het
Nrxn2	G	T	19: 6,505,027	G1179C	probably damaging	Het
Olfr361	A	C	2: 37,085,295	V151G	probably damaging	Het
P4ha1	A	G	10: 59,369,633	D495G	probably damaging	Het
Phf20	C	T	2: 156,302,923	A817V	probably benign	Het
Phlpp2	A	T	8: 109,925,799	I592F	probably benign	Het
Polq	A	G	16: 37,011,918	S7G	unknown	Het
Ppfia3	G	T	7: 45,348,517	Q729K	probably benign	Het
Prmt8	A	C	6: 127,729,499	F110V	probably damaging	Het
Psca	A	T	15: 74,716,019		probably null	Het
Pus7	G	T	5: 23,775,756	D165E	probably benign	Het
Raver2	A	G	4: 101,137,745	E555G	probably damaging	Het
Rb1cc1	G	A	1: 6,245,171	V457M	probably damaging	Het
Rbp3	A	G	14: 33,954,565	R157G	probably benign	Het
Rin3	T	G	12: 102,369,598	H589Q	probably benign	Het
Sgk2	T	A	2: 163,012,970	S334T	probably damaging	Het
Sh2d4b	T	C	14: 40,892,875	M31V	probably benign	Het
Slc23a3	G	A	1: 75,129,627	T316I	probably damaging	Het
Slc5a4b	C	A	10: 76,075,091	G304C	probably damaging	Het
Slc7a14	A	G	3: 31,257,610	V87A	probably damaging	Het
Slitrk3	A	T	3: 73,048,831	N869K	probably benign	Het
St8sia6	T	C	2: 13,657,085	R312G	possibly damaging	Het
Strip2	A	T	6: 29,923,969	E94V	probably benign	Het
Sycp2	T	C	2: 178,348,259	D1398G	probably damaging	Het
Syne1	C	A	10: 5,193,040	V114F	possibly damaging	Het
Syne1	T	C	10: 5,330,204	K1630E	probably benign	Het
Sytl2	A	G	7: 90,376,126	N441D	probably benign	Het
Thsd7a	A	G	6: 12,501,137	C424R		Het
Tln2	T	C	9: 67,395,545	D48G	probably damaging	Het
Treml1	A	G	17: 48,366,824	T288A	probably damaging	Het
Ttn	T	C	2: 76,765,769	I20267V	probably benign	Het
Ttn	A	T	2: 76,848,915	V10821D	unknown	Het
Vmn2r111	A	C	17: 22,548,030	S829A	probably benign	Het
Xcl1	T	A	1: 164,935,510		probably benign	Het
Zdhhc23	A	T	16: 43,973,864	V149E	probably damaging	Het
Zfp273	A	T	13: 67,822,268	I12F	possibly damaging	Het
Zfp874a	A	T	13: 67,442,645	C307S	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
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

Predicted Primers

PCR Primer
(F):5'- CACAGGTGGGTTTTCAGAGAAG -3'
(R):5'- GCATCCAGGAACAATCATGTG -3'

Sequencing Primer
(F):5'- TGGGTTTTCAGAGAAGTCAAGTGAC -3'
(R):5'- CATCCAGGAACAATCATGTGTGTGC -3'

Posted On

2021-07-15