Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02667:Atl3'

302785

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atl3

Ensembl Gene

ENSMUSG00000024759

Gene Name

atlastin GTPase 3

Synonyms

5730596K20Rik, 4633402C03Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02667

Quality Score

Status

Chromosome

Chromosomal Location

7471178-7515974 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7486781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 39 (F39L)

Ref Sequence

ENSEMBL: ENSMUSP00000025668 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025668] [ENSMUST00000170373]

AlphaFold

Q91YH5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025668
AA Change: F39L

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000025668
Gene: ENSMUSG00000024759
AA Change: F39L

Domain	Start	End	E-Value	Type
Pfam:GBP	36	310	7.2e-99	PFAM
Pfam:GBP_C	312	438	1.7e-9	PFAM
transmembrane domain	444	466	N/A	INTRINSIC
transmembrane domain	468	490	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170373
AA Change: F34L

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000132619
Gene: ENSMUSG00000024759
AA Change: F34L

Domain	Start	End	E-Value	Type
Pfam:GBP	31	305	9.1e-98	PFAM
Pfam:GBP_C	307	433	7.4e-10	PFAM
transmembrane domain	439	461	N/A	INTRINSIC
transmembrane domain	463	485	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of dynamin-like, integral membrane GTPases. The encoded protein is required for the proper formation of the network of interconnected tubules of the endoplasmic reticulum. Mutations in this gene may be associated with hereditary sensory neuropathy type IF. Alternatively spliced transcript variants that encode distinct isoforms have been described. [provided by RefSeq, Feb 2014]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6530409C15Rik	A	G	6: 28,217,670 (GRCm39)		noncoding transcript	Het
Akr1e1	G	A	13: 4,645,666 (GRCm39)	P174L	possibly damaging	Het
Arf5	C	A	6: 28,425,198 (GRCm39)	N95K	probably damaging	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Cyp2a12	T	C	7: 26,730,583 (GRCm39)	S183P	probably damaging	Het
Dicer1	T	A	12: 104,681,165 (GRCm39)	R449S	probably damaging	Het
Dlec1	T	C	9: 118,956,534 (GRCm39)	I736T	probably benign	Het
Eny2	T	A	15: 44,292,984 (GRCm39)	M12K	possibly damaging	Het
Fbxl21	C	T	13: 56,684,942 (GRCm39)	R349C	probably benign	Het
Gstm2	A	G	3: 107,893,424 (GRCm39)	L13P	probably damaging	Het
Gucy2g	G	A	19: 55,194,609 (GRCm39)	T936M	possibly damaging	Het
Mbp	G	T	18: 82,572,740 (GRCm39)	K12N	probably damaging	Het
Mon1b	G	T	8: 114,365,455 (GRCm39)	R261L	possibly damaging	Het
Myo18a	A	G	11: 77,748,678 (GRCm39)		probably benign	Het
Nr2f2	T	C	7: 70,007,733 (GRCm39)	S117G	probably damaging	Het
Pi4k2b	T	C	5: 52,907,947 (GRCm39)		probably benign	Het
Pi4ka	A	G	16: 17,113,325 (GRCm39)	F1504L	possibly damaging	Het
Ppm1d	T	C	11: 85,223,111 (GRCm39)	W239R	probably damaging	Het
Setd1b	T	A	5: 123,295,560 (GRCm39)	S1043T	unknown	Het
Tgfbrap1	T	C	1: 43,106,780 (GRCm39)	I298V	probably benign	Het
Tmem190	T	A	7: 4,786,157 (GRCm39)	D20E	probably benign	Het
Tph2	A	T	10: 114,915,950 (GRCm39)	C408S	probably benign	Het
Trmt44	A	C	5: 35,728,396 (GRCm39)	Y295D	probably damaging	Het
Trpm2	C	T	10: 77,771,776 (GRCm39)	R621H	probably damaging	Het
Tut4	T	C	4: 108,415,905 (GRCm39)		probably benign	Het
Ubn1	A	G	16: 4,880,463 (GRCm39)	E134G	probably damaging	Het

Other mutations in Atl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0042:Atl3	UTSW	19	7,506,388 (GRCm39)	missense	probably damaging	1.00
R0607:Atl3	UTSW	19	7,507,031 (GRCm39)	critical splice donor site	probably null
R0975:Atl3	UTSW	19	7,498,500 (GRCm39)	nonsense	probably null
R1582:Atl3	UTSW	19	7,494,264 (GRCm39)	missense	probably damaging	1.00
R4195:Atl3	UTSW	19	7,495,911 (GRCm39)	missense	possibly damaging	0.59
R4249:Atl3	UTSW	19	7,509,703 (GRCm39)	missense	probably benign	0.06
R4505:Atl3	UTSW	19	7,498,184 (GRCm39)	missense	probably benign	0.00
R4836:Atl3	UTSW	19	7,486,910 (GRCm39)	nonsense	probably null
R5649:Atl3	UTSW	19	7,509,592 (GRCm39)	missense	possibly damaging	0.50
R5721:Atl3	UTSW	19	7,506,376 (GRCm39)	missense	probably benign	0.00
R6459:Atl3	UTSW	19	7,498,163 (GRCm39)	missense	probably benign	0.07
R6530:Atl3	UTSW	19	7,499,499 (GRCm39)	missense	probably benign
R6543:Atl3	UTSW	19	7,487,463 (GRCm39)	missense	probably damaging	1.00
R6550:Atl3	UTSW	19	7,499,503 (GRCm39)	missense	probably benign
R7059:Atl3	UTSW	19	7,511,334 (GRCm39)	missense	probably benign	0.08
R7059:Atl3	UTSW	19	7,511,333 (GRCm39)	missense	probably benign
R7220:Atl3	UTSW	19	7,506,433 (GRCm39)	missense	probably null	0.02
R7666:Atl3	UTSW	19	7,487,405 (GRCm39)	missense	probably benign	0.19
R9143:Atl3	UTSW	19	7,509,408 (GRCm39)	missense	probably benign	0.01
R9206:Atl3	UTSW	19	7,487,447 (GRCm39)	missense	probably benign	0.09
R9208:Atl3	UTSW	19	7,487,447 (GRCm39)	missense	probably benign	0.09
R9631:Atl3	UTSW	19	7,509,553 (GRCm39)	missense	probably benign	0.00
R9709:Atl3	UTSW	19	7,507,921 (GRCm39)	missense	probably benign	0.00
R9733:Atl3	UTSW	19	7,509,705 (GRCm39)	missense	probably damaging	0.99
X0020:Atl3	UTSW	19	7,507,934 (GRCm39)	missense	probably benign	0.00
Z1176:Atl3	UTSW	19	7,487,402 (GRCm39)	missense	probably damaging	1.00
Z1177:Atl3	UTSW	19	7,507,918 (GRCm39)	missense	probably benign	0.19

Posted On

2015-04-16