Mutagenetix > Incidental Mutation

Incidental Mutation 'R6597:Atl2'

524996

Institutional Source

Beutler Lab

Gene Symbol

Atl2

Ensembl Gene

ENSMUSG00000059811

Gene Name

atlastin GTPase 2

Synonyms

Arl6ip2, 2010110I21Rik, Aip-2

MMRRC Submission

044721-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6597 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80155819-80203552 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80160195 bp (GRCm39)

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]

AlphaFold

Q6PA06

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
A2m	A	G	6: 121,625,080 (GRCm39)	Y486C	probably damaging	Het
Asb17	A	T	3: 153,550,321 (GRCm39)	T118S	probably damaging	Het
Bbs1	T	A	19: 4,949,334 (GRCm39)	M242L	probably benign	Het
Btg1	T	A	10: 96,454,182 (GRCm39)	S65T	probably damaging	Het
Cfap54	T	C	10: 92,834,902 (GRCm39)	D1101G	possibly damaging	Het
Cmpk2	G	T	12: 26,524,144 (GRCm39)	V314L	possibly damaging	Het
Fbxl8	A	C	8: 105,995,523 (GRCm39)	D345A	probably benign	Het
Gys2	T	A	6: 142,402,035 (GRCm39)	H268L	probably benign	Het
Hecw1	T	A	13: 14,491,403 (GRCm39)	R117*	probably null	Het
Hoxd10	G	A	2: 74,522,984 (GRCm39)	A221T	probably benign	Het
Hspa13	A	T	16: 75,562,085 (GRCm39)	L38Q	probably damaging	Het
Inava	G	T	1: 136,153,927 (GRCm39)	A87E	probably damaging	Het
Ipo11	A	G	13: 107,002,371 (GRCm39)		probably null	Het
Itgb8	A	G	12: 119,137,133 (GRCm39)	V390A	possibly damaging	Het
Kalrn	T	A	16: 34,003,117 (GRCm39)	I1370F	probably damaging	Het
Macf1	T	C	4: 123,276,485 (GRCm39)	N6086S	probably damaging	Het
Ms4a13	T	C	19: 11,170,303 (GRCm39)	T14A	probably benign	Het
Or11g26	T	A	14: 50,753,008 (GRCm39)	C116S	probably benign	Het
Or55b10	A	T	7: 102,143,628 (GRCm39)	I118N	probably damaging	Het
Or5ac22	C	T	16: 59,135,713 (GRCm39)	R19H	probably benign	Het
Or5d37	A	G	2: 87,923,413 (GRCm39)	F289S	probably damaging	Het
Or8b47	A	T	9: 38,435,300 (GRCm39)	I91F	probably benign	Het
Or9q1	T	A	19: 13,805,821 (GRCm39)		probably benign	Het
Patl2	T	A	2: 122,016,645 (GRCm39)		probably benign	Het
Pcdhga7	T	C	18: 37,850,059 (GRCm39)	S689P	probably benign	Het
Pitpnc1	G	T	11: 107,117,058 (GRCm39)	Y227*	probably null	Het
Pla2g2e	T	C	4: 138,607,984 (GRCm39)	V22A	unknown	Het
Ppil1	C	A	17: 29,480,852 (GRCm39)	V24F	probably benign	Het
Prl3b1	G	A	13: 27,431,957 (GRCm39)		probably null	Het
Rabgef1	G	A	5: 130,219,885 (GRCm39)		probably null	Het
Rhot2	A	T	17: 26,059,886 (GRCm39)	W341R	probably damaging	Het
Rps6kc1	A	T	1: 190,482,381 (GRCm39)	W286R	probably benign	Het
Rrs1	A	G	1: 9,616,601 (GRCm39)	T285A	probably damaging	Het
Shc3	T	A	13: 51,597,009 (GRCm39)	D338V	possibly damaging	Het
Siglech	A	T	7: 55,418,211 (GRCm39)	M60L	probably benign	Het
Slc12a6	G	T	2: 112,183,280 (GRCm39)	V756F	probably damaging	Het
Slc43a2	G	A	11: 75,462,681 (GRCm39)	G507D	probably damaging	Het
Slf1	A	G	13: 77,197,248 (GRCm39)	S789P	probably benign	Het
Spata31d1d	C	A	13: 59,873,871 (GRCm39)	M1221I	probably benign	Het
Srgap1	T	C	10: 121,628,276 (GRCm39)	N899D	probably benign	Het
Stag1	G	A	9: 100,769,473 (GRCm39)	M529I	probably benign	Het
Tekt3	A	G	11: 62,972,085 (GRCm39)	D247G	probably benign	Het
Tmppe	A	T	9: 114,234,312 (GRCm39)	M204L	probably benign	Het
Tpsg1	G	A	17: 25,588,271 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,628,315 (GRCm39)	V6288A	probably benign	Het
Ttn	A	T	2: 76,723,444 (GRCm39)		probably benign	Het
Twsg1	C	A	17: 66,244,799 (GRCm39)	V73F	probably damaging	Het
Vmn2r102	A	G	17: 19,914,450 (GRCm39)	T672A	probably damaging	Het
Vps36	A	G	8: 22,692,320 (GRCm39)	I66V	probably benign	Het
Xrcc4	A	T	13: 90,149,048 (GRCm39)	D157E	probably benign	Het
Zbbx	T	A	3: 75,043,761 (GRCm39)	Q162L	probably damaging	Het
Zfp560	T	A	9: 20,259,297 (GRCm39)	I522L	probably benign	Het
Zscan20	T	C	4: 128,479,539 (GRCm39)	N984S	probably damaging	Het

Other mutations in Atl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02135:Atl2	APN	17	80,167,214 (GRCm39)	critical splice donor site	probably null
IGL02692:Atl2	APN	17	80,172,482 (GRCm39)	missense	probably benign
IGL03127:Atl2	APN	17	80,160,283 (GRCm39)	missense	probably damaging	0.99
IGL03377:Atl2	APN	17	80,172,519 (GRCm39)	missense	probably damaging	1.00
R0164:Atl2	UTSW	17	80,161,260 (GRCm39)	unclassified	probably benign
R1203:Atl2	UTSW	17	80,160,334 (GRCm39)	missense	probably damaging	0.99
R1489:Atl2	UTSW	17	80,160,135 (GRCm39)	missense	probably benign	0.00
R1663:Atl2	UTSW	17	80,172,140 (GRCm39)	missense	probably damaging	1.00
R1977:Atl2	UTSW	17	80,160,019 (GRCm39)	missense	probably damaging	1.00
R2032:Atl2	UTSW	17	80,203,373 (GRCm39)	missense	probably benign
R4063:Atl2	UTSW	17	80,157,588 (GRCm39)	makesense	probably null
R5104:Atl2	UTSW	17	80,160,046 (GRCm39)	missense	probably benign	0.01
R5201:Atl2	UTSW	17	80,172,580 (GRCm39)	missense	probably benign
R5362:Atl2	UTSW	17	80,168,890 (GRCm39)	missense	probably damaging	1.00
R5387:Atl2	UTSW	17	80,160,229 (GRCm39)	missense	probably benign	0.03
R6128:Atl2	UTSW	17	80,172,470 (GRCm39)	critical splice donor site	probably null
R6369:Atl2	UTSW	17	80,161,984 (GRCm39)	missense	probably damaging	0.96
R6416:Atl2	UTSW	17	80,157,652 (GRCm39)	missense	probably benign	0.00
R6885:Atl2	UTSW	17	80,159,982 (GRCm39)	missense	probably damaging	1.00
R7428:Atl2	UTSW	17	80,183,227 (GRCm39)	splice site	probably null
R7587:Atl2	UTSW	17	80,172,496 (GRCm39)	missense	probably benign	0.25
R7646:Atl2	UTSW	17	80,162,036 (GRCm39)	missense	probably damaging	1.00
R7781:Atl2	UTSW	17	80,167,260 (GRCm39)	missense	probably damaging	1.00
R7949:Atl2	UTSW	17	80,167,289 (GRCm39)	missense	probably damaging	1.00
R8170:Atl2	UTSW	17	80,163,690 (GRCm39)	missense	possibly damaging	0.95
R8313:Atl2	UTSW	17	80,160,033 (GRCm39)	nonsense	probably null
R8878:Atl2	UTSW	17	80,160,232 (GRCm39)	missense	probably benign	0.05
R8899:Atl2	UTSW	17	80,183,469 (GRCm39)	missense	probably benign	0.01
R9335:Atl2	UTSW	17	80,160,207 (GRCm39)	missense	probably benign	0.00
X0052:Atl2	UTSW	17	80,160,046 (GRCm39)	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