Mutagenetix > Incidental Mutation

Incidental Mutation 'R5256:Atl1'

399697

Institutional Source

Beutler Lab

Gene Symbol

Atl1

Ensembl Gene

ENSMUSG00000021066

Gene Name

atlastin GTPase 1

Synonyms

AD-FSP, Spg3a, FSP1, SPG3

MMRRC Submission

042827-MU

Accession Numbers

Essential gene?

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

Stock #

R5256 (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 69959333 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 471 (D471G)

Ref Sequence

ENSEMBL: ENSMUSP00000021466 (fasta)

Gene Model

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

AlphaFold

Q8BH66

Predicted Effect

probably damaging
Transcript: ENSMUST00000021466
AA Change: D471G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021466
Gene: ENSMUSG00000021066
AA Change: D471G

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

0.0737

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.8%

Validation Efficiency

97% (95/98)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730015C16Rik	C	A	4: 108,848,065		probably benign	Het
Actr1b	T	C	1: 36,700,092	H372R	probably benign	Het
Ampd2	C	A	3: 108,079,549		probably benign	Het
Anapc4	A	G	5: 52,863,594	S612G	probably benign	Het
Arhgef7	T	C	8: 11,800,811	L141P	probably damaging	Het
Atrn	A	G	2: 130,946,019	D247G	probably benign	Het
Bag1	T	A	4: 40,948,022	R61W	probably damaging	Het
Card10	C	T	15: 78,778,251	R898H	probably damaging	Het
Cct6b	G	A	11: 82,764,220	A3V	probably damaging	Het
Cfap54	A	T	10: 92,935,091	L2097*	probably null	Het
Cfap54	T	C	10: 93,045,023		probably null	Het
Chd5	T	C	4: 152,372,097	F964L	probably benign	Het
Cog5	A	G	12: 31,886,205	T584A	probably benign	Het
Cpa2	T	A	6: 30,547,197	N157K	probably damaging	Het
Cpeb1	A	T	7: 81,351,839	M440K	probably damaging	Het
Cracr2a	G	A	6: 127,604,029	C56Y	probably damaging	Het
Ddb2	A	C	2: 91,236,728	L30R	probably damaging	Het
Dlk1	T	A	12: 109,459,771	I190N	probably damaging	Het
Dnajc13	T	A	9: 104,203,329	Y851F	possibly damaging	Het
Dopey1	T	A	9: 86,515,328	L895Q	probably damaging	Het
Dyx1c1	T	C	9: 72,972,080		probably null	Het
F7	G	A	8: 13,030,763	C122Y	probably damaging	Het
Frrs1	T	C	3: 116,903,100	V573A	possibly damaging	Het
Gm17541	A	T	12: 4,689,672		probably benign	Het
Gm20388	T	C	8: 122,270,436		probably benign	Het
Gm5519	A	T	19: 33,823,176	H90L	probably damaging	Het
Gm5526	T	A	1: 45,857,409		noncoding transcript	Het
Gm5709	A	T	3: 59,602,550		noncoding transcript	Het
Golga4	T	A	9: 118,556,501	V869D	possibly damaging	Het
Grm7	A	T	6: 111,358,221	Q531L	probably benign	Het
Hnrnpu	C	A	1: 178,335,893	C265F	unknown	Het
Hoxd3	G	A	2: 74,746,867	V364I	possibly damaging	Het
Hspb8	T	C	5: 116,409,473	D150G	probably damaging	Het
Hydin	C	A	8: 110,587,223	N4244K	possibly damaging	Het
Ik	A	G	18: 36,748,873	D136G	probably benign	Het
Il11ra1	T	C	4: 41,767,932		probably benign	Het
Jph1	T	C	1: 17,091,398	I347V	probably benign	Het
Klk1	T	A	7: 44,221,561		probably benign	Het
Lmcd1	T	A	6: 112,288,126		probably benign	Het
Lnx1	C	T	5: 74,685,654	C45Y	probably damaging	Het
Macc1	T	A	12: 119,446,529	M344K	possibly damaging	Het
Madcam1	A	G	10: 79,664,945	E32G	possibly damaging	Het
Mat2a	T	C	6: 72,434,333	D383G	probably benign	Het
Mpst	T	A	15: 78,413,649	I289N	probably damaging	Het
Myh6	C	T	14: 54,952,661	R1055Q	probably damaging	Het
Myh7	T	C	14: 54,979,508	K1131E	probably damaging	Het
Ndrg3	A	T	2: 156,931,205		probably benign	Het
Nebl	A	G	2: 17,433,975	S209P	probably benign	Het
Nid2	A	G	14: 19,768,208		probably null	Het
Nup188	A	T	2: 30,330,749	S945C	probably damaging	Het
Olfr1000	C	T	2: 85,608,473	V146I	probably benign	Het
Olfr251	A	G	9: 38,377,917	N12S	probably benign	Het
Olfr50	A	G	2: 36,793,673	M146V	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Patl2	A	G	2: 122,128,887	L32P	probably damaging	Het
Pcdh20	T	A	14: 88,468,377	M496L	probably benign	Het
Pdzd2	A	G	15: 12,372,942	V2369A	possibly damaging	Het
Pfn2	A	G	3: 57,847,391	V31A	probably damaging	Het
Plxna4	T	C	6: 32,251,072	N533S	probably benign	Het
Plxnb1	T	C	9: 109,114,593	F1916S	probably damaging	Het
Ppp4r3b	T	C	11: 29,188,293	F214L	probably benign	Het
Prox1	T	C	1: 190,161,441	D269G	probably benign	Het
Rapgef4	T	C	2: 72,034,034	F71S	probably damaging	Het
Rft1	A	G	14: 30,661,286	I94M	probably benign	Het
S100z	T	C	13: 95,478,619	I13V	probably damaging	Het
Serhl	T	A	15: 83,102,634	V117E	probably damaging	Het
Shroom1	G	A	11: 53,465,507	R336Q	probably benign	Het
Sik3	A	T	9: 46,212,254	Q1067L	probably damaging	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Slc28a1	G	A	7: 81,122,121	V118M	probably damaging	Het
Slco1a6	T	A	6: 142,132,701	I153F	probably benign	Het
Ss18l1	T	C	2: 180,061,942	Y323H	unknown	Het
Susd4	G	T	1: 182,892,259	A480S	possibly damaging	Het
Syne3	A	T	12: 104,975,880	M1K	probably null	Het
Synpo2l	A	T	14: 20,661,014	S513T	probably benign	Het
Tat	A	T	8: 109,998,334	N388I	probably benign	Het
Tbc1d1	A	G	5: 64,282,009	Y619C	probably damaging	Het
Tbk1	G	A	10: 121,570,685	T216M	probably damaging	Het
Tns1	C	T	1: 73,995,426		probably benign	Het
Trbv5	T	C	6: 41,062,384	V9A	possibly damaging	Het
Trpm5	A	G	7: 143,082,303	Y575H	probably damaging	Het
Ttn	A	T	2: 76,739,701	Y25203*	probably null	Het
Tubb3	C	A	8: 123,421,652	D441E	probably benign	Het
Usp33	T	A	3: 152,391,696	C850*	probably null	Het
Vdac1	G	A	11: 52,384,078		probably null	Het
Vmn1r232	T	C	17: 20,913,584	I251M	probably damaging	Het
Vmn2r11	T	G	5: 109,054,792	I140L	probably benign	Het
Vmn2r6	A	T	3: 64,556,842	N190K	probably benign	Het
Vps51	T	A	19: 6,070,488	H465L	probably benign	Het
Zfp318	T	G	17: 46,412,069	I1666S	probably benign	Het
Zfp446	C	T	7: 12,979,304	R90*	probably null	Het
Zgrf1	T	A	3: 127,602,445	F547I	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
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'- AAGAGTTCAGCCGGCGTTAC -3'
(R):5'- GAATGGGCCCAAGTCATGTTC -3'

Sequencing Primer
(F):5'- CGTTACCTGCAGCAGCTG -3'
(R):5'- GGCCCAAGTCATGTTCACCTG -3'

Posted On

2016-07-06