Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00964:Astn2'

27314

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Astn2

Ensembl Gene

ENSMUSG00000028373

Gene Name

astrotactin 2

Synonyms

1d8, Astnl

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

IGL00964

Quality Score

Status

Chromosome

Chromosomal Location

65299040-66322774 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66103424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 330 (M330L)

Ref Sequence

ENSEMBL: ENSMUSP00000081540 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068214] [ENSMUST00000084496]

AlphaFold

Q80Z10

Predicted Effect

unknown
Transcript: ENSMUST00000068214
AA Change: M330L

SMART Domains

Protein: ENSMUSP00000065786
Gene: ENSMUSG00000028373
AA Change: M330L

Domain	Start	End	E-Value	Type
signal peptide	1	51	N/A	INTRINSIC
low complexity region	87	127	N/A	INTRINSIC
transmembrane domain	219	241	N/A	INTRINSIC
low complexity region	303	312	N/A	INTRINSIC
low complexity region	342	361	N/A	INTRINSIC
low complexity region	393	404	N/A	INTRINSIC
low complexity region	432	437	N/A	INTRINSIC
transmembrane domain	443	465	N/A	INTRINSIC
EGF_like	526	563	2.92e1	SMART
Blast:EGF_like	667	708	2e-18	BLAST
EGF_like	715	764	4.03e1	SMART
MACPF	864	1048	2.88e-55	SMART
FN3	1079	1191	2.41e0	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000084496
AA Change: M330L

SMART Domains

Protein: ENSMUSP00000081540
Gene: ENSMUSG00000028373
AA Change: M330L

Domain	Start	End	E-Value	Type
signal peptide	1	51	N/A	INTRINSIC
low complexity region	87	127	N/A	INTRINSIC
transmembrane domain	219	241	N/A	INTRINSIC
low complexity region	303	312	N/A	INTRINSIC
low complexity region	341	352	N/A	INTRINSIC
low complexity region	380	385	N/A	INTRINSIC
transmembrane domain	391	413	N/A	INTRINSIC
EGF_like	474	511	2.92e1	SMART
Blast:EGF_like	615	656	2e-18	BLAST
EGF_like	663	712	4.03e1	SMART
MACPF	812	996	2.88e-55	SMART
FN3	1027	1139	2.41e0	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010]

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008O03Rik	T	A	7: 44,009,610 (GRCm39)	*197C	probably null	Het
Acsl6	A	G	11: 54,216,472 (GRCm39)	Y213C	probably damaging	Het
Agt	T	C	8: 125,284,634 (GRCm39)		probably benign	Het
Aifm3	A	G	16: 17,318,228 (GRCm39)	D144G	probably damaging	Het
Alad	T	C	4: 62,432,330 (GRCm39)	I32V	probably benign	Het
AU040320	T	A	4: 126,748,199 (GRCm39)	C1029*	probably null	Het
Brca2	T	A	5: 150,455,775 (GRCm39)	I172N	probably damaging	Het
Brme1	T	C	8: 84,893,343 (GRCm39)	I170T	probably benign	Het
Cdk5rap3	A	G	11: 96,800,765 (GRCm39)		probably null	Het
Dusp26	G	T	8: 31,584,136 (GRCm39)	R81L	probably benign	Het
Dync2h1	T	C	9: 7,174,881 (GRCm39)		probably benign	Het
Ehd4	A	G	2: 119,958,163 (GRCm39)	C141R	probably benign	Het
Ftsj3	G	T	11: 106,143,941 (GRCm39)	A261D	probably benign	Het
Gm5431	G	A	11: 48,780,094 (GRCm39)	T554I	probably damaging	Het
Hyls1	A	G	9: 35,473,408 (GRCm39)		probably benign	Het
Ifi213	T	A	1: 173,421,518 (GRCm39)	T124S	possibly damaging	Het
Ints10	T	A	8: 69,264,638 (GRCm39)	I457N	probably damaging	Het
Klk1b1	T	G	7: 43,620,593 (GRCm39)	S228A	possibly damaging	Het
Lpar2	T	C	8: 70,279,162 (GRCm39)	S319P	probably benign	Het
Lsr	T	C	7: 30,671,421 (GRCm39)	N104S	probably damaging	Het
Mybpc1	T	A	10: 88,391,604 (GRCm39)		probably null	Het
Nalcn	T	A	14: 123,532,796 (GRCm39)		probably benign	Het
Ovol2	G	A	2: 144,147,599 (GRCm39)	A217V	probably damaging	Het
Pcdh12	T	A	18: 38,415,784 (GRCm39)	Q447L	probably benign	Het
Pdgfra	T	C	5: 75,335,726 (GRCm39)	I453T	probably damaging	Het
Ptprd	C	T	4: 75,916,793 (GRCm39)	W1037*	probably null	Het
Rabgef1	T	C	5: 130,219,863 (GRCm39)	S109P	probably damaging	Het
Rev3l	T	C	10: 39,740,802 (GRCm39)	I2995T	probably benign	Het
Slamf6	T	A	1: 171,745,347 (GRCm39)	C25S	probably null	Het
Slc28a2b	A	T	2: 122,347,527 (GRCm39)	Q229H	probably damaging	Het
Sorbs2	A	C	8: 46,248,714 (GRCm39)	N520T	probably damaging	Het
Spr-ps1	C	A	6: 85,132,016 (GRCm39)		noncoding transcript	Het
Stx4a	A	G	7: 127,441,898 (GRCm39)	Q92R	probably benign	Het
Tab2	A	C	10: 7,785,837 (GRCm39)	V638G	probably benign	Het
Trim41	C	A	11: 48,703,190 (GRCm39)	R79S	possibly damaging	Het
Ttll5	A	G	12: 85,896,057 (GRCm39)	Y135C	possibly damaging	Het
Zan	T	C	5: 137,404,203 (GRCm39)		probably benign	Het
Zdhhc14	T	A	17: 5,762,756 (GRCm39)	L220Q	probably damaging	Het

Other mutations in Astn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01657:Astn2	APN	4	65,570,186 (GRCm39)	missense	probably damaging	0.99
IGL01747:Astn2	APN	4	65,712,855 (GRCm39)	missense	probably benign	0.17
IGL02008:Astn2	APN	4	65,977,390 (GRCm39)	missense	probably damaging	1.00
IGL02215:Astn2	APN	4	66,184,471 (GRCm39)	missense	unknown
IGL02484:Astn2	APN	4	65,910,516 (GRCm39)	splice site	probably benign
IGL02494:Astn2	APN	4	65,910,585 (GRCm39)	missense	probably benign	0.23
IGL02792:Astn2	APN	4	65,563,058 (GRCm39)	missense	probably benign	0.32
IGL03248:Astn2	APN	4	65,664,530 (GRCm39)	splice site	probably benign
IGL03409:Astn2	APN	4	65,353,423 (GRCm39)	missense	possibly damaging	0.46
B6584:Astn2	UTSW	4	65,910,624 (GRCm39)	missense	probably damaging	0.99
R0015:Astn2	UTSW	4	66,184,619 (GRCm39)	critical splice acceptor site	probably null
R0015:Astn2	UTSW	4	66,184,619 (GRCm39)	critical splice acceptor site	probably null
R0092:Astn2	UTSW	4	66,322,219 (GRCm39)	missense	unknown
R0245:Astn2	UTSW	4	65,712,795 (GRCm39)	missense	probably damaging	0.99
R0528:Astn2	UTSW	4	65,563,119 (GRCm39)	splice site	probably benign
R0586:Astn2	UTSW	4	66,103,379 (GRCm39)	missense	unknown
R0652:Astn2	UTSW	4	65,712,795 (GRCm39)	missense	probably damaging	0.99
R0880:Astn2	UTSW	4	65,566,567 (GRCm39)	missense	probably damaging	0.99
R0931:Astn2	UTSW	4	65,566,530 (GRCm39)	missense	probably damaging	0.99
R1353:Astn2	UTSW	4	66,184,572 (GRCm39)	missense	unknown
R1700:Astn2	UTSW	4	65,664,591 (GRCm39)	nonsense	probably null
R1934:Astn2	UTSW	4	65,353,426 (GRCm39)	missense	probably damaging	0.99
R2017:Astn2	UTSW	4	65,459,178 (GRCm39)	missense	probably damaging	0.99
R2101:Astn2	UTSW	4	65,499,923 (GRCm39)	nonsense	probably null
R2158:Astn2	UTSW	4	66,322,491 (GRCm39)	missense	unknown
R2907:Astn2	UTSW	4	65,563,093 (GRCm39)	missense	possibly damaging	0.92
R2923:Astn2	UTSW	4	65,832,010 (GRCm39)	missense	probably damaging	1.00
R2938:Astn2	UTSW	4	65,910,550 (GRCm39)	missense	possibly damaging	0.92
R3033:Astn2	UTSW	4	65,562,943 (GRCm39)	missense	probably damaging	1.00
R3933:Astn2	UTSW	4	66,322,192 (GRCm39)	missense	unknown
R4151:Astn2	UTSW	4	65,647,557 (GRCm39)	critical splice donor site	probably null
R4230:Astn2	UTSW	4	65,829,919 (GRCm39)	missense	probably damaging	0.99
R4497:Astn2	UTSW	4	66,037,300 (GRCm39)	intron	probably benign
R4717:Astn2	UTSW	4	65,562,991 (GRCm39)	missense	possibly damaging	0.86
R4844:Astn2	UTSW	4	65,562,967 (GRCm39)	missense	possibly damaging	0.90
R4928:Astn2	UTSW	4	65,647,644 (GRCm39)	missense	probably damaging	0.98
R5374:Astn2	UTSW	4	65,315,242 (GRCm39)	missense	probably damaging	0.96
R5442:Astn2	UTSW	4	65,500,023 (GRCm39)	missense	possibly damaging	0.86
R5694:Astn2	UTSW	4	65,868,375 (GRCm39)	missense	probably damaging	1.00
R5756:Astn2	UTSW	4	66,037,425 (GRCm39)	intron	probably benign
R5763:Astn2	UTSW	4	65,647,568 (GRCm39)	missense	probably benign	0.14
R6089:Astn2	UTSW	4	65,712,810 (GRCm39)	missense	probably damaging	0.96
R6990:Astn2	UTSW	4	65,910,540 (GRCm39)	missense	possibly damaging	0.82
R7304:Astn2	UTSW	4	66,103,612 (GRCm39)	missense	unknown
R7325:Astn2	UTSW	4	65,460,906 (GRCm39)	missense	probably benign	0.33
R7356:Astn2	UTSW	4	66,103,503 (GRCm39)	missense	unknown
R7414:Astn2	UTSW	4	65,459,193 (GRCm39)	missense	possibly damaging	0.85
R7755:Astn2	UTSW	4	65,712,795 (GRCm39)	missense	probably damaging	0.99
R7887:Astn2	UTSW	4	65,563,103 (GRCm39)	missense	possibly damaging	0.51
R8027:Astn2	UTSW	4	65,459,208 (GRCm39)	missense	possibly damaging	0.86
R8046:Astn2	UTSW	4	66,184,587 (GRCm39)	nonsense	probably null
R8188:Astn2	UTSW	4	65,977,418 (GRCm39)	missense	unknown
R8271:Astn2	UTSW	4	65,910,663 (GRCm39)	missense	unknown
R8274:Astn2	UTSW	4	65,570,098 (GRCm39)	critical splice donor site	probably null
R8505:Astn2	UTSW	4	65,299,825 (GRCm39)	missense	unknown
R8815:Astn2	UTSW	4	65,830,834 (GRCm39)	missense	possibly damaging	0.96
R8989:Astn2	UTSW	4	65,499,890 (GRCm39)	missense	possibly damaging	0.53
R9013:Astn2	UTSW	4	65,910,584 (GRCm39)	missense	probably benign	0.23
R9127:Astn2	UTSW	4	66,322,164 (GRCm39)	missense	unknown
R9255:Astn2	UTSW	4	65,563,085 (GRCm39)	nonsense	probably null
R9297:Astn2	UTSW	4	65,460,960 (GRCm39)	missense	possibly damaging	0.85
R9320:Astn2	UTSW	4	66,322,386 (GRCm39)	missense	unknown
R9349:Astn2	UTSW	4	66,184,492 (GRCm39)	missense	unknown
R9399:Astn2	UTSW	4	65,664,588 (GRCm39)	missense	possibly damaging	0.71
R9572:Astn2	UTSW	4	65,299,872 (GRCm39)	missense	unknown
R9573:Astn2	UTSW	4	65,566,591 (GRCm39)	missense	probably benign	0.08
R9674:Astn2	UTSW	4	65,460,963 (GRCm39)	missense	probably damaging	0.98
R9722:Astn2	UTSW	4	65,831,978 (GRCm39)	missense	probably benign	0.33

Posted On

2013-04-17