Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02692:Atl2'

303785

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atl2

Ensembl Gene

ENSMUSG00000059811

Gene Name

atlastin GTPase 2

Synonyms

2010110I21Rik, Aip-2, Arl6ip2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02692

Quality Score

Status

Chromosome

Chromosomal Location

79848390-79896123 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79865053 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 163 (N163D)

Ref Sequence

ENSEMBL: ENSMUSP00000064758 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068282] [ENSMUST00000112437] [ENSMUST00000222193]

AlphaFold

Q6PA06

Predicted Effect

probably benign
Transcript: ENSMUST00000068282
AA Change: N163D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000064758
Gene: ENSMUSG00000059811
AA Change: N163D

Domain	Start	End	E-Value	Type
low complexity region	9	22	N/A	INTRINSIC
Pfam:GBP	70	341	3.9e-105	PFAM
low complexity region	377	390	N/A	INTRINSIC
Blast:HAMP	495	545	4e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000112437

SMART Domains

Protein: ENSMUSP00000108056
Gene: ENSMUSG00000059811

Domain	Start	End	E-Value	Type
Pfam:GBP	1	170	6.6e-69	PFAM
Pfam:GBP_C	172	302	2.7e-8	PFAM
Blast:HAMP	324	374	3e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000222193

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	C	10: 100,603,548	S72R	probably benign	Het
4930544G11Rik	T	C	6: 65,952,808	V9A	probably damaging	Het
Actl11	A	G	9: 107,929,308	N277D	probably benign	Het
Adam2	T	A	14: 66,074,087	I57F	probably damaging	Het
Adgrf1	T	C	17: 43,303,778	F251S	probably damaging	Het
Anapc15-ps	T	C	10: 95,673,227	I64V	probably benign	Het
Anapc4	T	C	5: 52,864,529	V651A	probably damaging	Het
B4galnt3	G	A	6: 120,210,311	R708C	probably damaging	Het
Capza2	C	T	6: 17,654,116	Q56*	probably null	Het
Cspg4	T	A	9: 56,887,454	H824Q	probably benign	Het
Dock7	G	A	4: 98,987,386	P1106S	probably damaging	Het
Fat4	A	G	3: 38,951,086	Y1878C	probably damaging	Het
Grk2	A	T	19: 4,290,688		probably benign	Het
Lmbrd2	G	A	15: 9,149,068	V13I	possibly damaging	Het
Loxhd1	G	T	18: 77,356,913	C336F	probably damaging	Het
Morc1	T	A	16: 48,510,233	F355L	probably null	Het
Mov10	C	A	3: 104,800,803	E503*	probably null	Het
Nt5dc3	T	A	10: 86,804,778		probably null	Het
Olfr317	A	G	11: 58,732,517	V216A	probably benign	Het
Phf20	T	A	2: 156,298,578	M724K	probably damaging	Het
Pla2g2e	G	T	4: 138,882,559		probably benign	Het
Polq	T	A	16: 37,060,627	V772E	probably damaging	Het
Rhoh	A	G	5: 65,892,800	R138G	probably benign	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Sept7	A	G	9: 25,296,490		probably benign	Het
Serpina9	A	C	12: 104,008,406	F163V	probably damaging	Het
Slc2a13	A	T	15: 91,321,658	F442Y	probably benign	Het
Slc34a1	G	A	13: 55,403,236		probably benign	Het
Slc6a11	T	C	6: 114,162,139	F236S	probably damaging	Het
Usp1	A	G	4: 98,928,960	K130E	probably benign	Het
Zfp386	A	G	12: 116,059,235	E156G	probably damaging	Het
Zfp957	C	T	14: 79,213,385	V325I	unknown	Het

Other mutations in Atl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02135:Atl2	APN	17	79859785	critical splice donor site	probably null
IGL03127:Atl2	APN	17	79852854	missense	probably damaging	0.99
IGL03377:Atl2	APN	17	79865090	missense	probably damaging	1.00
R0164:Atl2	UTSW	17	79853831	unclassified	probably benign
R1203:Atl2	UTSW	17	79852905	missense	probably damaging	0.99
R1489:Atl2	UTSW	17	79852706	missense	probably benign	0.00
R1663:Atl2	UTSW	17	79864711	missense	probably damaging	1.00
R1977:Atl2	UTSW	17	79852590	missense	probably damaging	1.00
R2032:Atl2	UTSW	17	79895944	missense	probably benign
R4063:Atl2	UTSW	17	79850159	makesense	probably null
R5104:Atl2	UTSW	17	79852617	missense	probably benign	0.01
R5201:Atl2	UTSW	17	79865151	missense	probably benign
R5362:Atl2	UTSW	17	79861461	missense	probably damaging	1.00
R5387:Atl2	UTSW	17	79852800	missense	probably benign	0.03
R6128:Atl2	UTSW	17	79865041	critical splice donor site	probably null
R6369:Atl2	UTSW	17	79854555	missense	probably damaging	0.96
R6416:Atl2	UTSW	17	79850223	missense	probably benign	0.00
R6597:Atl2	UTSW	17	79852766	missense	possibly damaging	0.68
R6885:Atl2	UTSW	17	79852553	missense	probably damaging	1.00
R7428:Atl2	UTSW	17	79875798	splice site	probably null
R7587:Atl2	UTSW	17	79865067	missense	probably benign	0.25
R7646:Atl2	UTSW	17	79854607	missense	probably damaging	1.00
R7781:Atl2	UTSW	17	79859831	missense	probably damaging	1.00
R7949:Atl2	UTSW	17	79859860	missense	probably damaging	1.00
R8170:Atl2	UTSW	17	79856261	missense	possibly damaging	0.95
R8313:Atl2	UTSW	17	79852604	nonsense	probably null
R8878:Atl2	UTSW	17	79852803	missense	probably benign	0.05
R8899:Atl2	UTSW	17	79876040	missense	probably benign	0.01
R9335:Atl2	UTSW	17	79852778	missense	probably benign	0.00
X0052:Atl2	UTSW	17	79852617	missense	possibly damaging	0.94

Posted On

2015-04-16