Mutagenetix > Incidental Mutations

Incidental Mutation 'R5649:Atl3'

441342

Institutional Source

Beutler Lab

Gene Symbol

Atl3

Ensembl Gene

ENSMUSG00000024759

Gene Name

atlastin GTPase 3

Synonyms

MMRRC Submission

043170-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5649 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7494040-7538608 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 7532227 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 435 (T435N)

Ref Sequence

ENSEMBL: ENSMUSP00000132619 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025668
AA Change: T440N

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000025668
Gene: ENSMUSG00000024759
AA Change: T440N

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: T435N

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000132619
Gene: ENSMUSG00000024759
AA Change: T435N

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

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 96.0%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	T	C	11: 51,685,972	E33G	probably benign	Het
Abca12	T	C	1: 71,291,342	T1385A	probably damaging	Het
Apc2	T	A	10: 80,314,138	D1646E	probably damaging	Het
Aspm	G	A	1: 139,479,669	R2098H	probably benign	Het
Cdh22	G	T	2: 165,116,280	T589K	probably damaging	Het
Cnot3	T	C	7: 3,658,083	L561S	probably benign	Het
Col5a1	A	G	2: 27,951,456	D363G	unknown	Het
Cyp24a1	T	C	2: 170,496,309	D105G	possibly damaging	Het
Dennd4a	C	A	9: 64,851,209		probably null	Het
Dnah8	A	G	17: 30,800,587	K3878R	probably benign	Het
Dock4	T	C	12: 40,844,540	S1900P	probably benign	Het
Fancg	A	G	4: 43,008,736	L167P	probably damaging	Het
Ighd2-8	A	G	12: 113,450,867	S1P	possibly damaging	Het
Kif28	A	G	1: 179,697,771		probably null	Het
Mrpl55	T	A	11: 59,204,571	C20*	probably null	Het
Myo5a	A	G	9: 75,171,719	K920E	possibly damaging	Het
Naa35	G	A	13: 59,622,866		probably benign	Het
Olfm3	A	G	3: 115,096,924	R76G	probably damaging	Het
Olfr304	T	C	7: 86,386,313	M116V	probably damaging	Het
Olfr705	T	C	7: 106,714,166	R172G	possibly damaging	Het
Pcdha12	A	T	18: 37,022,415	D729V	probably benign	Het
Phf11c	T	C	14: 59,385,532		probably null	Het
Phf20	T	A	2: 156,251,768		probably null	Het
Plbd1	T	A	6: 136,616,989	Y376F	probably benign	Het
Poglut1	A	G	16: 38,531,811	V257A	probably damaging	Het
Reln	A	G	5: 21,901,625	I3249T	probably benign	Het
Rgsl1	G	A	1: 153,825,893	P272S	possibly damaging	Het
Slc15a2	A	T	16: 36,772,110	Y197*	probably null	Het
Slc45a2	C	T	15: 11,012,607	T232I	probably benign	Het
Ssc5d	T	A	7: 4,926,518		probably null	Het
Thbs2	T	C	17: 14,689,953	Y128C	probably damaging	Het
Them4	A	T	3: 94,331,544	L219F	possibly damaging	Het
Tmem30b	G	T	12: 73,546,166	N58K	probably benign	Het
Ttc29	G	A	8: 78,246,313	E131K	possibly damaging	Het
Vmn1r29	C	G	6: 58,307,691	S132C	probably benign	Het
Vmn1r53	G	A	6: 90,223,760	A194V	probably benign	Het
Wdr86	A	T	5: 24,718,087	H202Q	probably benign	Het
Xirp2	A	G	2: 67,516,895	D3160G	probably benign	Het
Xkr5	T	C	8: 18,933,966	D520G	probably benign	Het
Zfp607b	T	G	7: 27,703,981	C621G	probably damaging	Het

Other mutations in Atl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02667:Atl3	APN	19	7509416	missense	possibly damaging	0.72
R0042:Atl3	UTSW	19	7529023	missense	probably damaging	1.00
R0607:Atl3	UTSW	19	7529666	critical splice donor site	probably null
R0975:Atl3	UTSW	19	7521135	nonsense	probably null
R1582:Atl3	UTSW	19	7516899	missense	probably damaging	1.00
R4195:Atl3	UTSW	19	7518546	missense	possibly damaging	0.59
R4249:Atl3	UTSW	19	7532338	missense	probably benign	0.06
R4505:Atl3	UTSW	19	7520819	missense	probably benign	0.00
R4836:Atl3	UTSW	19	7509545	nonsense	probably null
R5721:Atl3	UTSW	19	7529011	missense	probably benign	0.00
R6459:Atl3	UTSW	19	7520798	missense	probably benign	0.07
R6530:Atl3	UTSW	19	7522134	missense	probably benign
R6543:Atl3	UTSW	19	7510098	missense	probably damaging	1.00
R6550:Atl3	UTSW	19	7522138	missense	probably benign
R7059:Atl3	UTSW	19	7533968	missense	probably benign
R7059:Atl3	UTSW	19	7533969	missense	probably benign	0.08
R7220:Atl3	UTSW	19	7529068	missense	probably null	0.02
R7666:Atl3	UTSW	19	7510040	missense	probably benign	0.19
X0020:Atl3	UTSW	19	7530569	missense	probably benign	0.00
Z1176:Atl3	UTSW	19	7510037	missense	probably damaging	1.00
Z1177:Atl3	UTSW	19	7530553	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- CTCCAGATATTTTAGAAGAGAAGCACC -3'
(R):5'- CTCTAACACATATGCTGCACCG -3'

Sequencing Primer
(F):5'- CCTAGAATTCAAACAACTTGCTCTGG -3'
(R):5'- CATATGCTGCACCGGAGTCAATG -3'

Posted On

2016-11-08