Mutagenetix > Incidental Mutations

Incidental Mutation 'R6597:Atl2'

524996

Institutional Source

Beutler Lab

Gene Symbol

Atl2

Ensembl Gene

ENSMUSG00000059811

Gene Name

atlastin GTPase 2

Synonyms

2010110I21Rik, Aip-2, Arl6ip2

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.887) question?

Stock #

R6597 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79848390-79896123 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79852766 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 293 (D293V)

Ref Sequence

ENSEMBL: ENSMUSP00000108056 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068282] [ENSMUST00000112437] [ENSMUST00000222193] [ENSMUST00000222415]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068282
AA Change: D464V

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000064758
Gene: ENSMUSG00000059811
AA Change: D464V

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

possibly damaging
Transcript: ENSMUST00000112437
AA Change: D293V

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108056
Gene: ENSMUSG00000059811
AA Change: D293V

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

noncoding transcript
Transcript: ENSMUST00000221286

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221666

Predicted Effect

probably benign
Transcript: ENSMUST00000222193

Predicted Effect

probably benign
Transcript: ENSMUST00000222415

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223273

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730559C18Rik	G	T	1: 136,226,189	A87E	probably damaging	Het
A2m	A	G	6: 121,648,121	Y486C	probably damaging	Het
Asb17	A	T	3: 153,844,684	T118S	probably damaging	Het
Bbs1	T	A	19: 4,899,306	M242L	probably benign	Het
Btg1	T	A	10: 96,618,320	S65T	probably damaging	Het
Cfap54	T	C	10: 92,999,040	D1101G	possibly damaging	Het
Cmpk2	G	T	12: 26,474,145	V314L	possibly damaging	Het
Fbxl8	A	C	8: 105,268,891	D345A	probably benign	Het
Gys2	T	A	6: 142,456,309	H268L	probably benign	Het
Hecw1	T	A	13: 14,316,818	R117*	probably null	Het
Hoxd10	G	A	2: 74,692,640	A221T	probably benign	Het
Hspa13	A	T	16: 75,765,197	L38Q	probably damaging	Het
Ipo11	A	G	13: 106,865,863		probably null	Het
Itgb8	A	G	12: 119,173,398	V390A	possibly damaging	Het
Kalrn	T	A	16: 34,182,747	I1370F	probably damaging	Het
Macf1	T	C	4: 123,382,692	N6086S	probably damaging	Het
Ms4a13	T	C	19: 11,192,939	T14A	probably benign	Het
Olfr1164	A	G	2: 88,093,069	F289S	probably damaging	Het
Olfr1500	T	A	19: 13,828,457		probably benign	Het
Olfr204	C	T	16: 59,315,350	R19H	probably benign	Het
Olfr545	A	T	7: 102,494,421	I118N	probably damaging	Het
Olfr742	T	A	14: 50,515,551	C116S	probably benign	Het
Olfr911-ps1	A	T	9: 38,524,004	I91F	probably benign	Het
Patl2	T	A	2: 122,186,164		probably benign	Het
Pcdhga7	T	C	18: 37,717,006	S689P	probably benign	Het
Pitpnc1	G	T	11: 107,226,232	Y227*	probably null	Het
Pla2g2e	T	C	4: 138,880,673	V22A	unknown	Het
Ppil1	C	A	17: 29,261,878	V24F	probably benign	Het
Prl3b1	G	A	13: 27,247,974		probably null	Het
Rabgef1	G	A	5: 130,191,044		probably null	Het
Rhot2	A	T	17: 25,840,912	W341R	probably damaging	Het
Rps6kc1	A	T	1: 190,750,184	W286R	probably benign	Het
Rrs1	A	G	1: 9,546,376	T285A	probably damaging	Het
Shc3	T	A	13: 51,442,973	D338V	possibly damaging	Het
Siglech	A	T	7: 55,768,463	M60L	probably benign	Het
Slc12a6	G	T	2: 112,352,935	V756F	probably damaging	Het
Slc43a2	G	A	11: 75,571,855	G507D	probably damaging	Het
Slf1	A	G	13: 77,049,129	S789P	probably benign	Het
Spata31d1d	C	A	13: 59,726,057	M1221I	probably benign	Het
Srgap1	T	C	10: 121,792,371	N899D	probably benign	Het
Stag1	G	A	9: 100,887,420	M529I	probably benign	Het
Tekt3	A	G	11: 63,081,259	D247G	probably benign	Het
Tmppe	A	T	9: 114,405,244	M204L	probably benign	Het
Tpsg1	G	A	17: 25,369,297		probably benign	Het
Ttn	A	G	2: 76,797,971	V6288A	probably benign	Het
Ttn	A	T	2: 76,893,100		probably benign	Het
Twsg1	C	A	17: 65,937,804	V73F	probably damaging	Het
Vmn2r102	A	G	17: 19,694,188	T672A	probably damaging	Het
Vps36	A	G	8: 22,202,304	I66V	probably benign	Het
Xrcc4	A	T	13: 90,000,929	D157E	probably benign	Het
Zbbx	T	A	3: 75,136,454	Q162L	probably damaging	Het
Zfp560	T	A	9: 20,348,001	I522L	probably benign	Het
Zscan20	T	C	4: 128,585,746	N984S	probably damaging	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
IGL02692:Atl2	APN	17	79865053	missense	probably benign
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
R6883:Atl2	UTSW	17	79852553	missense	probably damaging	1.00
X0052:Atl2	UTSW	17	79852617	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CAGCAATCTGATCAATCATTGTTCC -3'
(R):5'- AAGCCGTACATTGCACCTTC -3'

Sequencing Primer
(F):5'- TCCCCAGAGTACTTAACATATGC -3'
(R):5'- CGTACATTGCACCTTCAGATTTGGAG -3'

Posted On

2018-06-22