Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02135:Atl2'

281308

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atl2

Ensembl Gene

ENSMUSG00000059811

Gene Name

atlastin GTPase 2

Synonyms

Arl6ip2, 2010110I21Rik, Aip-2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02135

Quality Score

Status

Chromosome

Chromosomal Location

80155819-80203552 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 80167214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108056 (fasta)

Gene Model

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

AlphaFold

Q6PA06

Predicted Effect

probably null
Transcript: ENSMUST00000068282

SMART Domains

Protein: ENSMUSP00000064758
Gene: ENSMUSG00000059811

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: ENSMUST00000068282

SMART Domains

Protein: ENSMUSP00000064758
Gene: ENSMUSG00000059811

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

SMART Domains

Protein: ENSMUSP00000108056
Gene: ENSMUSG00000059811

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

probably null
Transcript: ENSMUST00000112437

SMART Domains

Protein: ENSMUSP00000108056
Gene: ENSMUSG00000059811

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

probably benign
Transcript: ENSMUST00000222193

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223273

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,949,205 (GRCm39)	H1034R	possibly damaging	Het
Aoc1l1	G	A	6: 48,952,498 (GRCm39)	R141Q	probably benign	Het
App	A	G	16: 84,876,726 (GRCm39)		probably null	Het
Arhgap23	G	T	11: 97,342,528 (GRCm39)	R270L	probably damaging	Het
Arhgap36	T	C	X: 48,586,066 (GRCm39)	I342T	possibly damaging	Het
Arhgef12	A	T	9: 42,883,461 (GRCm39)	M1356K	possibly damaging	Het
Armh4	T	C	14: 50,011,386 (GRCm39)	K107R	probably damaging	Het
Asap3	A	C	4: 135,968,464 (GRCm39)		probably null	Het
Cdh20	T	A	1: 110,066,004 (GRCm39)	Y759*	probably null	Het
Celsr3	A	G	9: 108,704,755 (GRCm39)	T413A	probably benign	Het
Cep97	A	T	16: 55,743,330 (GRCm39)	I102K	probably damaging	Het
Ces2a	T	C	8: 105,466,813 (GRCm39)	S441P	probably benign	Het
Cops2	T	C	2: 125,674,163 (GRCm39)	T435A	probably benign	Het
Ctc1	A	G	11: 68,911,989 (GRCm39)	N56S	probably benign	Het
Dennd2a	G	A	6: 39,457,205 (GRCm39)	R746*	probably null	Het
Dnah5	T	A	15: 28,248,031 (GRCm39)	C723S	possibly damaging	Het
Dnah7a	A	C	1: 53,662,632 (GRCm39)	V643G	probably benign	Het
Dnah9	A	T	11: 66,008,318 (GRCm39)	S836T	possibly damaging	Het
Edc4	T	A	8: 106,612,454 (GRCm39)	V164D	probably damaging	Het
Gcfc2	A	T	6: 81,918,381 (GRCm39)	D357V	probably damaging	Het
Grem1	T	C	2: 113,580,132 (GRCm39)	N123S	probably damaging	Het
Gria1	T	C	11: 57,076,679 (GRCm39)	V94A	probably damaging	Het
Hipk2	G	A	6: 38,795,934 (GRCm39)	H112Y	possibly damaging	Het
Il7r	T	C	15: 9,508,092 (GRCm39)	N410S	probably benign	Het
Insr	A	T	8: 3,308,741 (GRCm39)	S98R	probably damaging	Het
Klhl7	T	A	5: 24,346,279 (GRCm39)	Y308*	probably null	Het
Lcp1	T	C	14: 75,437,926 (GRCm39)	V112A	probably benign	Het
Map2	A	T	1: 66,419,920 (GRCm39)	R84*	probably null	Het
Mgst1	A	T	6: 138,124,766 (GRCm39)	M27L	probably damaging	Het
Mroh7	A	G	4: 106,559,707 (GRCm39)	L740P	probably damaging	Het
Mybpc3	T	C	2: 90,955,171 (GRCm39)	F507L	possibly damaging	Het
Nqo2	A	T	13: 34,169,326 (GRCm39)	K183*	probably null	Het
Nt5c1b	T	C	12: 10,427,194 (GRCm39)	Y315H	probably damaging	Het
Odc1	T	A	12: 17,597,674 (GRCm39)	I48N	probably damaging	Het
Or2a56	A	G	6: 42,932,585 (GRCm39)	D51G	probably damaging	Het
Or7a37	T	A	10: 78,805,940 (GRCm39)	S152R	probably damaging	Het
Osbpl5	T	A	7: 143,258,862 (GRCm39)	D236V	probably damaging	Het
Prkg1	A	G	19: 30,970,476 (GRCm39)	Y212H	probably benign	Het
Pttg1ip	T	C	10: 77,425,578 (GRCm39)		probably null	Het
Serpina1f	T	A	12: 103,659,974 (GRCm39)	T103S	possibly damaging	Het
Skp2	T	C	15: 9,125,234 (GRCm39)	D115G	probably benign	Het
Slc25a30	C	T	14: 76,004,435 (GRCm39)	V221I	probably benign	Het
Slc7a3	A	C	X: 100,123,098 (GRCm39)	D609E	probably benign	Het
Strc	C	T	2: 121,195,315 (GRCm39)	G1656D	probably damaging	Het
Tbc1d8	A	G	1: 39,441,891 (GRCm39)	F234L	probably damaging	Het
Tgm7	T	G	2: 120,929,519 (GRCm39)	I252L	possibly damaging	Het
Tlr5	A	G	1: 182,800,819 (GRCm39)	D41G	possibly damaging	Het
Tns2	T	C	15: 102,021,461 (GRCm39)	L1034P	probably damaging	Het
Trim15	A	G	17: 37,177,956 (GRCm39)	V13A	probably benign	Het
Uros	C	T	7: 133,288,734 (GRCm39)	V258M	possibly damaging	Het
Wdr75	A	G	1: 45,853,723 (GRCm39)	Y378C	probably damaging	Het
Wdr75	G	A	1: 45,856,608 (GRCm39)		probably null	Het
Wdr82	G	T	9: 106,048,443 (GRCm39)	R9L	possibly damaging	Het
Ybx3	G	A	6: 131,357,892 (GRCm39)	R125C	probably damaging	Het
Zc3h12b	A	G	X: 94,942,870 (GRCm39)	T49A	probably benign	Het
Zfyve27	G	A	19: 42,172,575 (GRCm39)	V279M	probably damaging	Het

Other mutations in Atl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16