Mutagenetix > Incidental Mutation

Incidental Mutation 'R8313:Atl2'

641537

Institutional Source

Beutler Lab

Gene Symbol

Atl2

Ensembl Gene

ENSMUSG00000059811

Gene Name

atlastin GTPase 2

Synonyms

Arl6ip2, 2010110I21Rik, Aip-2

MMRRC Submission

067797-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8313 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80155819-80203552 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 80160033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 518 (W518*)

Ref Sequence

ENSEMBL: ENSMUSP00000064758 (fasta)

Gene Model

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

AlphaFold

Q6PA06

Predicted Effect

probably null
Transcript: ENSMUST00000068282
AA Change: W518*

SMART Domains

Protein: ENSMUSP00000064758
Gene: ENSMUSG00000059811
AA Change: W518*

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 null
Transcript: ENSMUST00000112437
AA Change: W347*

SMART Domains

Protein: ENSMUSP00000108056
Gene: ENSMUSG00000059811
AA Change: W347*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Atp13a2	G	A	4: 140,730,046 (GRCm39)	V646I	probably benign	Het
Bcar1	A	T	8: 112,440,270 (GRCm39)	F575I	probably benign	Het
Bpifa6	T	A	2: 153,831,178 (GRCm39)	L248*	probably null	Het
Ccdc38	T	C	10: 93,399,111 (GRCm39)	L193P	probably damaging	Het
Ch25h	A	C	19: 34,452,138 (GRCm39)	I130S	probably benign	Het
Chaf1a	C	A	17: 56,351,109 (GRCm39)	Q30K	unknown	Het
Dab2ip	T	C	2: 35,617,440 (GRCm39)	L1106S	probably damaging	Het
Dnah3	A	G	7: 119,550,375 (GRCm39)	Y3315H	probably benign	Het
Dnah7b	G	A	1: 46,214,456 (GRCm39)	V1074I	possibly damaging	Het
Efemp1	A	G	11: 28,860,691 (GRCm39)	Q200R	probably benign	Het
Eif1ad3	A	T	12: 87,843,764 (GRCm39)	D137V	unknown	Het
Epx	C	T	11: 87,763,557 (GRCm39)	R221Q	possibly damaging	Het
Exosc7	T	C	9: 122,956,942 (GRCm39)	L109P	probably damaging	Het
Fbxo22	T	A	9: 55,128,344 (GRCm39)	F222I	probably damaging	Het
Fcgbp	A	G	7: 27,785,769 (GRCm39)	D402G	probably benign	Het
Foxr1	A	G	9: 44,347,351 (GRCm39)	V62A	probably damaging	Het
Gm8267	A	T	14: 44,961,515 (GRCm39)	H59Q	probably damaging	Het
Gnptab	T	A	10: 88,275,071 (GRCm39)	Y1090N	probably damaging	Het
Gpr20	A	G	15: 73,568,161 (GRCm39)	F76S	probably damaging	Het
Gpr33	A	G	12: 52,070,907 (GRCm39)	V44A	probably benign	Het
Grin3a	G	A	4: 49,665,599 (GRCm39)	T1012I	probably benign	Het
Itga1	T	A	13: 115,103,120 (GRCm39)	T1104S	probably benign	Het
Kidins220	T	A	12: 25,054,110 (GRCm39)	Y537N	probably damaging	Het
Lama1	A	G	17: 68,057,515 (GRCm39)	T530A		Het
Lysmd2	A	T	9: 75,533,040 (GRCm39)		probably benign	Het
Mdk	T	C	2: 91,761,178 (GRCm39)	K128E	unknown	Het
Mphosph8	AC	A	14: 56,916,062 (GRCm39)		probably null	Het
Muc16	A	C	9: 18,436,443 (GRCm39)	L7915W	possibly damaging	Het
Muc4	A	T	16: 32,753,423 (GRCm38)	T1100S	probably benign	Het
Mxra7	T	C	11: 116,695,376 (GRCm39)	Y176C	probably damaging	Het
Myh15	C	A	16: 48,940,381 (GRCm39)	T777N	probably damaging	Het
Myo18b	A	G	5: 113,023,045 (GRCm39)	S116P	unknown	Het
Noc3l	A	G	19: 38,784,254 (GRCm39)	L543P	probably damaging	Het
Or5h24	C	T	16: 58,919,004 (GRCm39)	G117D	unknown	Het
Or7a39	C	T	10: 78,715,170 (GRCm39)	P55S	probably benign	Het
Or8c10	T	A	9: 38,279,346 (GRCm39)	V168E	probably damaging	Het
Pkm	G	T	9: 59,575,902 (GRCm39)	R106L	probably benign	Het
Prkab2	G	T	3: 97,570,911 (GRCm39)	V112F	probably benign	Het
Prkaca	A	T	8: 84,717,151 (GRCm39)	N172Y	probably damaging	Het
Prmt8	A	G	6: 127,666,813 (GRCm39)	V387A	probably benign	Het
Rad17	T	C	13: 100,761,074 (GRCm39)	T485A	probably benign	Het
Rita1	G	T	5: 120,747,716 (GRCm39)	T194K	possibly damaging	Het
Rogdi	C	A	16: 4,831,313 (GRCm39)		probably benign	Het
Senp5	T	C	16: 31,808,117 (GRCm39)	D379G	probably benign	Het
Slc4a4	A	G	5: 89,194,122 (GRCm39)	K201E	possibly damaging	Het
Slc9a4	C	T	1: 40,619,520 (GRCm39)		probably benign	Het
Tmem175	T	A	5: 108,791,075 (GRCm39)	S208R	probably benign	Het
Tmem237	A	T	1: 59,147,237 (GRCm39)	Y299N	probably damaging	Het
Tnrc6a	T	A	7: 122,769,936 (GRCm39)	N575K	possibly damaging	Het
Trak2	A	T	1: 58,960,306 (GRCm39)	C232*	probably null	Het
Ubr3	A	G	2: 69,775,478 (GRCm39)	H589R	probably damaging	Het
Vcp	T	C	4: 42,988,728 (GRCm39)	T249A	possibly damaging	Het
Vmn1r208	G	C	13: 22,956,947 (GRCm39)	I183M	probably benign	Het
Vmn1r231	C	T	17: 21,110,289 (GRCm39)	V209I	probably benign	Het
Vmn1r80	T	C	7: 11,926,994 (GRCm39)	F35L	probably benign	Het
Vmn2r58	A	T	7: 41,521,952 (GRCm39)	I48N	probably benign	Het
Vstm2a	T	A	11: 16,231,898 (GRCm39)	V231E	probably damaging	Het
Zfp108	A	C	7: 23,960,087 (GRCm39)	Y226S	possibly damaging	Het
Zfp445	A	T	9: 122,682,695 (GRCm39)	N415K	possibly damaging	Het
Zfp938	T	G	10: 82,061,422 (GRCm39)	R399S	possibly damaging	Het
Zmym4	G	A	4: 126,804,762 (GRCm39)	H464Y	probably benign	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
R6597:Atl2	UTSW	17	80,160,195 (GRCm39)	missense	possibly damaging	0.68
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
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'- GCTCACCGTCTGGCATAATC -3'
(R):5'- ATTCTGCCGCCGTTATCAGG -3'

Sequencing Primer
(F):5'- GGCATAATCACCAGGCTTTTAAG -3'
(R):5'- CCGTTATCAGGACCAGCTTGAAG -3'

Posted On

2020-07-28