Mutagenetix > Incidental Mutation

Incidental Mutation 'R1203:Atl2'

100303

Institutional Source

Beutler Lab

Gene Symbol

Atl2

Ensembl Gene

ENSMUSG00000059811

Gene Name

atlastin GTPase 2

Synonyms

2010110I21Rik, Aip-2, Arl6ip2

MMRRC Submission

039273-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1203 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79848390-79896123 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 79852905 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 418 (H418N)

Ref Sequence

ENSEMBL: ENSMUSP00000064758 (fasta)

Gene Model

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

AlphaFold

Q6PA06

Predicted Effect

probably damaging
Transcript: ENSMUST00000068282
AA Change: H418N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000064758
Gene: ENSMUSG00000059811
AA Change: H418N

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 damaging
Transcript: ENSMUST00000112437
AA Change: H247N

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108056
Gene: ENSMUSG00000059811
AA Change: H247N

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

Meta Mutation Damage Score

0.9205

Coding Region Coverage

1x: 99.5%
3x: 98.4%
10x: 95.6%
20x: 89.3%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	T	1: 11,518,594	R78S	probably damaging	Het
Aadacl3	T	C	4: 144,463,570	T54A	probably benign	Het
Adcy8	A	G	15: 64,746,931	I791T	probably damaging	Het
Aldh1b1	A	G	4: 45,803,359	D299G	probably damaging	Het
Aoah	A	G	13: 20,816,594	E66G	probably damaging	Het
Atp6v1d	A	G	12: 78,861,440	I7T	possibly damaging	Het
Calhm3	C	T	19: 47,155,400	V155M	probably damaging	Het
Carmil1	A	T	13: 24,099,006	I105K	probably damaging	Het
Csrp3	C	A	7: 48,839,530	M1I	probably null	Het
Dnah10	T	A	5: 124,760,014		probably null	Het
Dnah11	T	C	12: 117,933,812	N3561S	possibly damaging	Het
Dzip3	A	T	16: 48,951,817	D496E	probably damaging	Het
Eif2ak1	T	C	5: 143,883,979	V246A	probably benign	Het
Fam171b	T	A	2: 83,812,969	V74E	probably benign	Het
Gm14137	C	T	2: 119,175,124	R55W	probably damaging	Het
Gm4950	T	C	18: 51,865,758	I42V	probably benign	Het
Gpr35	T	C	1: 92,983,148	V194A	probably damaging	Het
Kdm5d	C	T	Y: 941,011	S1132F	probably damaging	Het
Muc4	C	A	16: 32,754,529	H1468N	probably benign	Het
Ncln	A	G	10: 81,496,193	V24A	possibly damaging	Het
Nphp4	A	G	4: 152,488,832	K76E	probably damaging	Het
Nsf	CAATAATAATAATAATA	CAATAATAATAATAATAATA	11: 103,926,126		probably benign	Het
Nup155	A	T	15: 8,157,760	H1391L	probably damaging	Het
Olfr649	A	T	7: 104,189,853	L118*	probably null	Het
Pabpc1l	G	T	2: 164,037,171	V313F	possibly damaging	Het
Pcbd2	G	A	13: 55,733,068		probably null	Het
Rapgef6	T	A	11: 54,691,699	V1479D	probably benign	Het
Rnf43	T	C	11: 87,727,475		probably benign	Het
Robo3	A	G	9: 37,418,682	W1113R	probably damaging	Het
Sall1	A	T	8: 89,031,934	V514E	probably damaging	Het
Sgpp1	A	G	12: 75,716,282	I375T	probably benign	Het
Strc	T	C	2: 121,372,123	N1187S	possibly damaging	Het
Tbc1d17	G	A	7: 44,843,471	R363W	probably damaging	Het
Tbcd	A	G	11: 121,475,625	Q242R	probably benign	Het
Tbcel	A	C	9: 42,451,651	V50G	probably damaging	Het
Tead3	C	T	17: 28,341,562	A23T	probably benign	Het
Tedc2	T	A	17: 24,216,317	E366V	probably damaging	Het
Tedc2	C	A	17: 24,216,318	E366*	probably null	Het
Tmem136	A	G	9: 43,111,480	V193A	probably benign	Het
Tmem241	G	T	18: 12,083,978		probably benign	Het
Tmtc3	G	T	10: 100,476,744	T79K	probably damaging	Het
Utrn	A	G	10: 12,486,537	V241A	probably damaging	Het
Vps8	A	T	16: 21,511,557	I729F	probably damaging	Het
Zfp407	C	T	18: 84,559,773	A1072T	probably benign	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
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
R6597:Atl2	UTSW	17	79852766	missense	possibly damaging	0.68
R6885:Atl2	UTSW	17	79852553	missense	probably damaging	1.00
R7428:Atl2	UTSW	17	79875798	splice site	probably null
R7587:Atl2	UTSW	17	79865067	missense	probably benign	0.25
R7646:Atl2	UTSW	17	79854607	missense	probably damaging	1.00
R7781:Atl2	UTSW	17	79859831	missense	probably damaging	1.00
R7949:Atl2	UTSW	17	79859860	missense	probably damaging	1.00
R8170:Atl2	UTSW	17	79856261	missense	possibly damaging	0.95
R8313:Atl2	UTSW	17	79852604	nonsense	probably null
R8878:Atl2	UTSW	17	79852803	missense	probably benign	0.05
R8899:Atl2	UTSW	17	79876040	missense	probably benign	0.01
R9335:Atl2	UTSW	17	79852778	missense	probably benign	0.00
X0052:Atl2	UTSW	17	79852617	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CAATGAAGCCAGTCAGTCCTGAGATG -3'
(R):5'- CTAAGAGTCTGTTGTGCTGCTTCTGT -3'

Sequencing Primer
(F):5'- GCCAGTCAGTCCTGAGATGATATAC -3'
(R):5'- ggggaagagggaagggg -3'

Posted On

2014-01-15