Mutagenetix > Incidental Mutation

Incidental Mutation 'R4402:Atl1'

326691

Institutional Source

Beutler Lab

Gene Symbol

Atl1

Ensembl Gene

ENSMUSG00000021066

Gene Name

atlastin GTPase 1

Synonyms

AD-FSP, Spg3a, FSP1, SPG3

MMRRC Submission

042003-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.283) question?

Stock #

R4402 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69892614-69966417 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 69959199 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 426 (D426E)

Ref Sequence

ENSEMBL: ENSMUSP00000021466 (fasta)

Gene Model

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

AlphaFold

Q8BH66

Predicted Effect

probably benign
Transcript: ENSMUST00000021466
AA Change: D426E

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000021466
Gene: ENSMUSG00000021066
AA Change: D426E

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: ENSMUST00000110560

SMART Domains

Protein: ENSMUSP00000106189
Gene: ENSMUSG00000079076

Domain	Start	End	E-Value	Type
Pfam:TIP49	1	58	3.1e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220935

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222141

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222246

Meta Mutation Damage Score

0.0586

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (61/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	A	11: 58,880,194	H167Q	probably benign	Het
Adamts20	T	C	15: 94,379,946	T212A	probably benign	Het
Ap3b1	C	A	13: 94,418,099	L248I	probably damaging	Het
Cage1	T	A	13: 38,023,102	I256F	probably damaging	Het
Calcr	A	T	6: 3,708,484		probably null	Het
Canx	T	C	11: 50,304,438	T268A	probably benign	Het
Chd7	A	T	4: 8,866,353	M842L	possibly damaging	Het
Clca4a	T	C	3: 144,952,848	T787A	probably benign	Het
Clstn3	T	C	6: 124,456,980	Y407C	probably damaging	Het
Copa	C	A	1: 172,102,224	T286N	probably damaging	Het
Cyb5a	G	A	18: 84,871,593	R49Q	possibly damaging	Het
Def6	A	G	17: 28,219,976	K219E	probably damaging	Het
Eif4g1	G	T	16: 20,678,843		probably benign	Het
Eif5	A	T	12: 111,541,749	K161N	probably benign	Het
Fras1	C	A	5: 96,642,620	T951K	probably damaging	Het
Gen1	A	T	12: 11,242,362	N475K	possibly damaging	Het
Gm14569	T	C	X: 36,433,493	Y521C	probably benign	Het
Gm6124	T	A	7: 39,221,105		noncoding transcript	Het
Gpt2	A	T	8: 85,525,559	D501V	probably benign	Het
Gstm2	T	C	3: 107,986,054	K31R	probably benign	Het
Homer3	G	A	8: 70,290,143		probably null	Het
Itga1	T	A	13: 115,001,566	M428L	probably benign	Het
Kalrn	C	T	16: 33,989,810	D2525N	possibly damaging	Het
Kcnn4	T	C	7: 24,377,442	W139R	probably benign	Het
Kdm7a	T	A	6: 39,166,668	R380W	probably null	Het
Khdrbs1	T	G	4: 129,742,096	D22A	possibly damaging	Het
Liph	A	T	16: 21,976,250	I204N	probably damaging	Het
Loxhd1	A	G	18: 77,441,760	E2033G	possibly damaging	Het
M6pr	C	T	6: 122,315,023		probably benign	Het
Mrm1	A	G	11: 84,819,089	I95T	probably damaging	Het
Mroh2a	G	T	1: 88,254,935	R1195L	possibly damaging	Het
Mug1	C	A	6: 121,879,352	F1030L	probably damaging	Het
Naca	C	T	10: 128,043,472		probably benign	Het
Nob1	A	T	8: 107,418,488		probably benign	Het
Nutm1	A	C	2: 112,249,809	I587R	probably damaging	Het
Olfr385	A	G	11: 73,589,255	V161A	probably benign	Het
Pcdhb2	A	G	18: 37,295,402	K143E	probably benign	Het
Pcnt	T	C	10: 76,392,393	Q1646R	probably benign	Het
Piwil2	A	T	14: 70,408,916	D390E	probably benign	Het
Pkhd1	A	G	1: 20,239,411	L2771P	probably damaging	Het
Pla2g1b	T	A	5: 115,470,888	Y47*	probably null	Het
Plekhn1	T	C	4: 156,225,356	T135A	probably damaging	Het
Pola1	T	C	X: 93,561,423	Y968C	probably damaging	Het
Ppp1r26	C	A	2: 28,451,606	T416K	probably benign	Het
Psmd1	A	G	1: 86,075,951	I153V	possibly damaging	Het
Rcan2	A	G	17: 43,953,470	D7G	probably benign	Het
Rexo5	T	C	7: 119,834,376	I326T	possibly damaging	Het
Rps6kc1	A	G	1: 190,798,605		probably benign	Het
Shc1	T	C	3: 89,426,678	S273P	probably benign	Het
Slc9b2	T	C	3: 135,336,544	V528A	probably benign	Het
Tas2r118	T	C	6: 23,969,294	K256R	probably benign	Het
Tma16	C	T	8: 66,484,171		probably null	Het
Tnfaip2	T	C	12: 111,449,851	F516L	probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Ugt1a10	C	T	1: 88,215,123	P113L	probably damaging	Het
Wdr35	A	G	12: 8,989,981	D362G	probably damaging	Het
Wwp2	T	C	8: 107,457,978	V106A	probably benign	Het
Zfp40	T	A	17: 23,176,719	H230L	possibly damaging	Het
Zkscan17	T	A	11: 59,503,022	M1L	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
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
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'- GAAGCCTCTCTTTCTGACAGG -3'
(R):5'- GCTCTCGATATTCGCCAGAG -3'

Sequencing Primer
(F):5'- ACAGGTTTGTGGTGGTGATAAACC -3'
(R):5'- TGATAAGCGTCAGTCCCATG -3'

Posted On

2015-07-07