Mutagenetix > Incidental Mutation

Incidental Mutation 'R7437:Atl1'

576687

Institutional Source

Beutler Lab

Gene Symbol

Atl1

Ensembl Gene

ENSMUSG00000021066

Gene Name

atlastin GTPase 1

Synonyms

AD-FSP, Spg3a, FSP1, SPG3

MMRRC Submission

045513-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.319) question?

Stock #

R7437 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69939879-70010859 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69978396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 123 (I123V)

Ref Sequence

ENSEMBL: ENSMUSP00000021466 (fasta)

Gene Model

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

AlphaFold

Q8BH66

Predicted Effect

probably benign
Transcript: ENSMUST00000021466
AA Change: I123V

PolyPhen 2 Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000021466
Gene: ENSMUSG00000021066
AA Change: I123V

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 benign
Transcript: ENSMUST00000223456
AA Change: I123V

PolyPhen 2 Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (54/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	T	17: 24,619,472 (GRCm39)	I1192F	probably damaging	Het
Abca8a	A	G	11: 109,941,790 (GRCm39)	S1160P	probably benign	Het
Adamtsl2	A	G	2: 26,979,721 (GRCm39)	I297V	probably damaging	Het
Aebp1	T	A	11: 5,819,757 (GRCm39)	F687L	possibly damaging	Het
Ahsa1	A	G	12: 87,314,930 (GRCm39)	T28A	probably damaging	Het
Akap3	A	T	6: 126,842,618 (GRCm39)	K412N	probably damaging	Het
Atp10a	G	A	7: 58,308,288 (GRCm39)	R29H	unknown	Het
C4b	T	C	17: 34,953,707 (GRCm39)	D967G	probably benign	Het
Ccdc186	T	C	19: 56,795,429 (GRCm39)	N416S	probably damaging	Het
Ccna2	T	C	3: 36,625,239 (GRCm39)		probably benign	Het
Cep70	T	C	9: 99,173,582 (GRCm39)	L371P	probably damaging	Het
Cfap46	A	T	7: 139,230,753 (GRCm39)	C958*	probably null	Het
Crlf2	T	C	5: 109,702,839 (GRCm39)	D318G	probably benign	Het
Csf1	T	C	3: 107,658,072 (GRCm39)	N14D	probably benign	Het
Dars1	A	G	1: 128,299,941 (GRCm39)	Y348H	possibly damaging	Het
Dnah2	T	C	11: 69,389,453 (GRCm39)	E813G	probably damaging	Het
Ebi3	T	A	17: 56,261,410 (GRCm39)	M102K	probably benign	Het
Epg5	A	G	18: 78,066,493 (GRCm39)	D2131G	probably benign	Het
Fam186a	A	T	15: 99,840,775 (GRCm39)	L1823H	probably damaging	Het
H2-M3	T	C	17: 37,583,569 (GRCm39)	M309T	probably benign	Het
Ift122	C	T	6: 115,903,263 (GRCm39)	R1176C	probably benign	Het
Ino80	A	G	2: 119,273,067 (GRCm39)	S470P	possibly damaging	Het
Kcnh5	C	T	12: 75,184,417 (GRCm39)		probably null	Het
Kif24	T	C	4: 41,404,687 (GRCm39)	T438A	possibly damaging	Het
Kndc1	G	A	7: 139,488,959 (GRCm39)	G205R	probably damaging	Het
Lrp1b	A	T	2: 40,712,657 (GRCm39)	Y3226N		Het
Lrp1b	G	T	2: 40,712,658 (GRCm39)	D3225E		Het
Megf10	G	C	18: 57,395,203 (GRCm39)	G522R	probably damaging	Het
Nectin2	A	T	7: 19,483,193 (GRCm39)	L12*	probably null	Het
Ngef	A	T	1: 87,408,327 (GRCm39)	M580K	probably damaging	Het
Oga	A	T	19: 45,767,046 (GRCm39)	M110K	possibly damaging	Het
Or10ag56	A	G	2: 87,139,687 (GRCm39)	M205V	probably benign	Het
Or1e1c	A	G	11: 73,265,844 (GRCm39)	S93G	probably benign	Het
Or5an1b	T	C	19: 12,299,472 (GRCm39)	N240D	probably damaging	Het
Pcdhb13	T	C	18: 37,577,728 (GRCm39)	L702P	probably damaging	Het
Pcdhb17	A	G	18: 37,619,145 (GRCm39)	I312V	probably benign	Het
Pglyrp3	A	G	3: 91,937,985 (GRCm39)	N265D	probably benign	Het
Pkd1l2	A	G	8: 117,757,421 (GRCm39)	V1539A	probably damaging	Het
Prxl2b	C	A	4: 154,981,053 (GRCm39)	C194F	possibly damaging	Het
Rcn2	T	C	9: 55,965,353 (GRCm39)	L274P	probably damaging	Het
Rpp30	A	G	19: 36,081,838 (GRCm39)	E267G	possibly damaging	Het
Rundc3a	A	G	11: 102,289,230 (GRCm39)	M134V	probably damaging	Het
Samd3	A	T	10: 26,146,004 (GRCm39)	Q343L	possibly damaging	Het
Serpinb3c	A	T	1: 107,199,444 (GRCm39)	F359Y	probably damaging	Het
Slc9a9	T	C	9: 95,110,994 (GRCm39)	L604P	probably benign	Het
Strn3	A	T	12: 51,656,946 (GRCm39)	H777Q	probably damaging	Het
Tap1	G	A	17: 34,409,616 (GRCm39)	W284*	probably null	Het
Tlcd5	C	T	9: 43,023,080 (GRCm39)	W91*	probably null	Het
Tmem181a	A	G	17: 6,353,540 (GRCm39)	D384G	possibly damaging	Het
Txndc12	T	C	4: 108,713,368 (GRCm39)	S77P	probably damaging	Het
Wnt16	G	A	6: 22,288,560 (GRCm39)	V19M	probably benign	Het
Zfp932	T	A	5: 110,157,880 (GRCm39)	M526K	probably benign	Het
Zfp959	G	T	17: 56,205,334 (GRCm39)	C457F	probably damaging	Het
Zscan4-ps3	T	C	7: 11,346,863 (GRCm39)	S300P	probably benign	Het

Other mutations in Atl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00824:Atl1	APN	12	69,979,012 (GRCm39)	missense	probably damaging	0.99
IGL02035:Atl1	APN	12	70,007,318 (GRCm39)	unclassified	probably benign
IGL02229:Atl1	APN	12	69,972,799 (GRCm39)	missense	probably benign	0.01
IGL03282:Atl1	APN	12	70,001,238 (GRCm39)	missense	possibly damaging	0.87
IGL03374:Atl1	APN	12	70,002,141 (GRCm39)	missense	probably damaging	1.00
R1538:Atl1	UTSW	12	69,972,962 (GRCm39)	missense	probably benign	0.02
R1819:Atl1	UTSW	12	70,010,074 (GRCm39)	missense	probably benign
R1903:Atl1	UTSW	12	70,006,049 (GRCm39)	missense	probably damaging	0.98
R1961:Atl1	UTSW	12	70,000,274 (GRCm39)	missense	probably benign	0.00
R1990:Atl1	UTSW	12	70,010,102 (GRCm39)	missense	probably damaging	1.00
R2126:Atl1	UTSW	12	69,978,431 (GRCm39)	splice site	probably null
R3724:Atl1	UTSW	12	70,006,154 (GRCm39)	missense	probably damaging	0.99
R4402:Atl1	UTSW	12	70,005,973 (GRCm39)	missense	probably benign	0.09
R5241:Atl1	UTSW	12	70,005,887 (GRCm39)	missense	possibly damaging	0.52
R5256:Atl1	UTSW	12	70,006,107 (GRCm39)	missense	probably damaging	1.00
R5285:Atl1	UTSW	12	70,001,273 (GRCm39)	missense	probably benign	0.18
R5866:Atl1	UTSW	12	69,972,785 (GRCm39)	missense	probably damaging	0.98
R6001:Atl1	UTSW	12	69,979,057 (GRCm39)	missense	possibly damaging	0.92
R6434:Atl1	UTSW	12	70,006,199 (GRCm39)	nonsense	probably null
R6677:Atl1	UTSW	12	70,000,218 (GRCm39)	missense	probably damaging	0.99
R6728:Atl1	UTSW	12	69,994,324 (GRCm39)	missense	possibly damaging	0.95
R6974:Atl1	UTSW	12	69,972,813 (GRCm39)	missense	probably damaging	0.99
R7013:Atl1	UTSW	12	70,000,214 (GRCm39)	missense	probably damaging	1.00
R7121:Atl1	UTSW	12	69,978,408 (GRCm39)	missense	probably damaging	0.99
R7224:Atl1	UTSW	12	70,002,127 (GRCm39)	missense	probably benign
R8043:Atl1	UTSW	12	70,005,989 (GRCm39)	missense	probably damaging	1.00
R8319:Atl1	UTSW	12	70,002,093 (GRCm39)	missense	probably damaging	0.99
R8843:Atl1	UTSW	12	69,972,922 (GRCm39)	missense	probably damaging	0.98
Z1176:Atl1	UTSW	12	69,983,849 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- CCTTTTGAGTCAGAGAACGAAAAG -3'
(R):5'- TTCAATAGGACAATACTCTGACCC -3'

Sequencing Primer
(F):5'- TCTGTAACGAGATCTGACGC -3'
(R):5'- GACCCTTGCAGCATTATGTG -3'

Posted On

2019-10-07