Mutagenetix > Incidental Mutation

Incidental Mutation 'R0024:Astn1'

15175

Institutional Source

Beutler Lab

Gene Symbol

Astn1

Ensembl Gene

ENSMUSG00000026587

Gene Name

astrotactin 1

Synonyms

MMRRC Submission

038319-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R0024 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

158362273-158691781 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 158684215 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 1209 (S1209N)

Ref Sequence

ENSEMBL: ENSMUSP00000142322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046110] [ENSMUST00000192821] [ENSMUST00000193042] [ENSMUST00000195311]

AlphaFold

Q61137

Predicted Effect

probably damaging
Transcript: ENSMUST00000046110
AA Change: S1201N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000039711
Gene: ENSMUSG00000026587
AA Change: S1201N

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
transmembrane domain	153	175	N/A	INTRINSIC
low complexity region	365	381	N/A	INTRINSIC
transmembrane domain	388	410	N/A	INTRINSIC
EGF	462	507	1.2e1	SMART
EGF	611	652	2.29e1	SMART
EGF_like	659	708	3.57e1	SMART
MACPF	811	999	1.11e-56	SMART
FN3	1030	1142	5.75e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000192821

SMART Domains

Protein: ENSMUSP00000141260
Gene: ENSMUSG00000026587

Domain	Start	End	E-Value	Type
FN3	46	158	2.8e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000193042
AA Change: S1209N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142322
Gene: ENSMUSG00000026587
AA Change: S1209N

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
transmembrane domain	153	175	N/A	INTRINSIC
low complexity region	365	381	N/A	INTRINSIC
transmembrane domain	388	410	N/A	INTRINSIC
EGF	462	507	1.2e1	SMART
EGF	611	652	2.29e1	SMART
EGF_like	659	708	3.57e1	SMART
MACPF	811	999	1.11e-56	SMART
FN3	1030	1142	5.75e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194658

Predicted Effect

probably benign
Transcript: ENSMUST00000195311

SMART Domains

Protein: ENSMUSP00000141518
Gene: ENSMUSG00000026587

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
transmembrane domain	153	175	N/A	INTRINSIC
low complexity region	365	381	N/A	INTRINSIC
transmembrane domain	388	410	N/A	INTRINSIC
EGF	462	499	2e-2	SMART
EGF	603	644	1.1e-1	SMART
EGF_like	651	700	1.7e-1	SMART
MACPF	803	991	6.2e-59	SMART
FN3	1022	1134	2.8e-4	SMART

Meta Mutation Damage Score

0.1205

Coding Region Coverage

1x: 79.2%
3x: 69.7%
10x: 44.0%
20x: 23.5%

Validation Efficiency

95% (75/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Astrotactin is a neuronal adhesion molecule required for glial-guided migration of young postmitotic neuroblasts in cortical regions of developing brain, including cerebrum, hippocampus, cerebellum, and olfactory bulb (Fink et al., 1995).[supplied by OMIM, Jun 2009]
PHENOTYPE: Homozygous mutation of this gene results in reduced cerebellum size, abnormal Purkinje cell morphology, and reduced coordination performance on the Rotarod test. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	T	C	8: 83,728,284	T260A	probably damaging	Het
Ahctf1	G	A	1: 179,752,436	T2067M	probably damaging	Het
Akip1	T	C	7: 109,704,138	S63P	probably benign	Het
Ankrd34c	G	A	9: 89,729,527	P254S	possibly damaging	Het
Aqp8	T	C	7: 123,467,440	I256T	probably benign	Het
Arnt2	A	G	7: 84,284,126	V308A	probably benign	Het
Atf7ip	T	C	6: 136,599,820		probably benign	Het
Bbx	T	A	16: 50,224,918	M427L	probably benign	Het
Cadm4	T	C	7: 24,502,744	L336P	probably benign	Het
Camk2d	A	G	3: 126,797,723	M281V	probably benign	Het
Dll3	A	G	7: 28,300,161		probably benign	Het
Dscam	G	A	16: 96,593,385	R1906*	probably null	Het
Dst	C	T	1: 34,189,119	P1606L	probably damaging	Het
Eif2ak3	A	G	6: 70,892,356	T676A	probably benign	Het
Entpd5	T	C	12: 84,373,733	M428T	probably benign	Het
Fry	T	G	5: 150,380,803	S553A	probably benign	Het
Gls2	G	A	10: 128,199,256	R86H	probably damaging	Het
Gm14340	T	A	2: 180,824,250		noncoding transcript	Het
Gm9457	A	C	8: 4,813,131		noncoding transcript	Het
Hfm1	T	C	5: 106,856,924	K1179E	probably benign	Het
Iqgap1	T	C	7: 80,751,939	T473A	probably benign	Het
Krt34	A	T	11: 100,041,037	C119S	probably benign	Het
Krt6a	A	G	15: 101,690,715		probably benign	Het
Lysmd4	A	G	7: 67,226,080	T164A	probably benign	Het
Mroh2b	T	A	15: 4,925,627	Y701N	probably damaging	Het
Pi4ka	T	C	16: 17,315,535		probably benign	Het
Plcb1	A	G	2: 135,362,425	S900G	probably benign	Het
Plxna2	T	A	1: 194,643,995	I79N	possibly damaging	Het
Prpf31	C	A	7: 3,636,659		probably null	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rsc1a1	T	C	4: 141,685,272	K110E	probably benign	Het
Sin3a	T	A	9: 57,118,253		probably benign	Het
Slc24a2	T	C	4: 87,028,240		probably benign	Het
Slc6a3	A	T	13: 73,540,837		probably benign	Het
St5	T	C	7: 109,524,659	H1131R	probably damaging	Het
Sugct	G	A	13: 16,857,869	H433Y	probably benign	Het
Sycp2l	A	G	13: 41,141,788	I310M	probably damaging	Het
Tpm3	C	A	3: 90,087,449		probably null	Het
Ttc27	T	C	17: 74,770,264	F385L	possibly damaging	Het
Utrn	A	G	10: 12,406,011	V3301A	probably benign	Het

Other mutations in Astn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Astn1	APN	1	158600319	missense	possibly damaging	0.71
IGL01705:Astn1	APN	1	158504313	missense	probably damaging	1.00
IGL01790:Astn1	APN	1	158580327	missense	possibly damaging	0.70
IGL01962:Astn1	APN	1	158668631	missense	probably damaging	1.00
IGL02000:Astn1	APN	1	158674614	missense	probably damaging	1.00
IGL02119:Astn1	APN	1	158511154	intron	probably benign
IGL02168:Astn1	APN	1	158609341	missense	possibly damaging	0.93
IGL02239:Astn1	APN	1	158664130	critical splice donor site	probably null
IGL02271:Astn1	APN	1	158510950	splice site	probably benign
IGL02307:Astn1	APN	1	158674614	missense	probably damaging	1.00
IGL02504:Astn1	APN	1	158502408	missense	probably damaging	1.00
IGL02552:Astn1	APN	1	158505395	missense	possibly damaging	0.90
IGL02903:Astn1	APN	1	158688550	missense	probably damaging	0.99
IGL03003:Astn1	APN	1	158612395	missense	probably benign	0.00
IGL03007:Astn1	APN	1	158668623	splice site	probably benign
IGL03354:Astn1	APN	1	158688604	missense	probably damaging	1.00
PIT4366001:Astn1	UTSW	1	158597209	missense	probably benign	0.20
PIT4366001:Astn1	UTSW	1	158597211	missense	probably benign	0.23
R0050:Astn1	UTSW	1	158579724	splice site	probably benign
R0099:Astn1	UTSW	1	158502151	missense	probably damaging	1.00
R0109:Astn1	UTSW	1	158664104	missense	possibly damaging	0.79
R0109:Astn1	UTSW	1	158664104	missense	possibly damaging	0.79
R0365:Astn1	UTSW	1	158688548	missense	probably damaging	1.00
R0416:Astn1	UTSW	1	158509891	missense	probably damaging	1.00
R0531:Astn1	UTSW	1	158600389	missense	probably damaging	0.99
R0735:Astn1	UTSW	1	158472389	missense	possibly damaging	0.53
R0763:Astn1	UTSW	1	158509890	missense	possibly damaging	0.93
R0899:Astn1	UTSW	1	158511109	nonsense	probably null
R1027:Astn1	UTSW	1	158580279	missense	probably damaging	1.00
R1160:Astn1	UTSW	1	158600365	missense	possibly damaging	0.83
R1474:Astn1	UTSW	1	158502353	missense	probably damaging	1.00
R1517:Astn1	UTSW	1	158579576	splice site	probably benign
R1701:Astn1	UTSW	1	158504307	missense	possibly damaging	0.54
R1764:Astn1	UTSW	1	158504251	missense	probably benign	0.35
R1860:Astn1	UTSW	1	158601945	missense	probably damaging	1.00
R1889:Astn1	UTSW	1	158505316	splice site	probably null
R1919:Astn1	UTSW	1	158509971	missense	probably damaging	1.00
R2001:Astn1	UTSW	1	158520521	missense	probably damaging	1.00
R2007:Astn1	UTSW	1	158609305	missense	probably damaging	0.97
R2038:Astn1	UTSW	1	158657120	missense	probably benign	0.29
R2044:Astn1	UTSW	1	158600502	missense	possibly damaging	0.53
R2084:Astn1	UTSW	1	158472408	missense	probably damaging	0.99
R2094:Astn1	UTSW	1	158667609	missense	probably benign	0.02
R2163:Astn1	UTSW	1	158502150	missense	probably damaging	0.99
R2211:Astn1	UTSW	1	158657306	missense	probably benign	0.40
R2268:Astn1	UTSW	1	158502099	missense	probably damaging	1.00
R2269:Astn1	UTSW	1	158502099	missense	probably damaging	1.00
R2425:Astn1	UTSW	1	158579666	missense	probably damaging	0.99
R2428:Astn1	UTSW	1	158612346	missense	possibly damaging	0.66
R2980:Astn1	UTSW	1	158572951	critical splice acceptor site	probably null
R3713:Astn1	UTSW	1	158667532	missense	possibly damaging	0.83
R3745:Astn1	UTSW	1	158502060	missense	probably damaging	1.00
R3926:Astn1	UTSW	1	158579657	missense	possibly damaging	0.95
R4345:Astn1	UTSW	1	158502032	splice site	probably null
R4625:Astn1	UTSW	1	158580294	missense	probably damaging	1.00
R4627:Astn1	UTSW	1	158502251	missense	possibly damaging	0.55
R4970:Astn1	UTSW	1	158657193	missense	possibly damaging	0.88
R5112:Astn1	UTSW	1	158657193	missense	possibly damaging	0.88
R5257:Astn1	UTSW	1	158612532	missense	probably damaging	1.00
R5292:Astn1	UTSW	1	158580363	critical splice donor site	probably null
R5889:Astn1	UTSW	1	158600380	missense	possibly damaging	0.93
R5909:Astn1	UTSW	1	158601937	missense	probably damaging	1.00
R6020:Astn1	UTSW	1	158509993	missense	probably damaging	1.00
R6349:Astn1	UTSW	1	158664121	nonsense	probably null
R6481:Astn1	UTSW	1	158612462	missense	probably benign	0.29
R6736:Astn1	UTSW	1	158511148	critical splice donor site	probably null
R6833:Astn1	UTSW	1	158664122	missense	probably benign	0.40
R6834:Astn1	UTSW	1	158664122	missense	probably benign	0.40
R6860:Astn1	UTSW	1	158612472	missense	probably damaging	1.00
R6874:Astn1	UTSW	1	158664074	nonsense	probably null
R7062:Astn1	UTSW	1	158688511	critical splice acceptor site	probably null
R7133:Astn1	UTSW	1	158572987	missense	probably damaging	1.00
R7355:Astn1	UTSW	1	158664276	splice site	probably null
R7402:Astn1	UTSW	1	158552855	intron	probably benign
R7412:Astn1	UTSW	1	158502349	missense	probably damaging	0.98
R7487:Astn1	UTSW	1	158610782	splice site	probably null
R7537:Astn1	UTSW	1	158505386	missense	possibly damaging	0.84
R7537:Astn1	UTSW	1	158667638	splice site	probably null
R7635:Astn1	UTSW	1	158667535	nonsense	probably null
R7890:Astn1	UTSW	1	158580333	missense	probably damaging	1.00
R7894:Astn1	UTSW	1	158601938	missense	probably damaging	0.98
R7904:Astn1	UTSW	1	158597316	missense	probably benign	0.37
R8048:Astn1	UTSW	1	158688638	missense	probably benign	0.00
R8061:Astn1	UTSW	1	158504350	critical splice donor site	probably null
R8096:Astn1	UTSW	1	158609320	missense	probably damaging	1.00
R8327:Astn1	UTSW	1	158609280	missense	probably damaging	1.00
R8374:Astn1	UTSW	1	158502233	missense	probably damaging	1.00
R8400:Astn1	UTSW	1	158657100	missense	probably benign	0.09
R8983:Astn1	UTSW	1	158664130	critical splice donor site	probably null
R9013:Astn1	UTSW	1	158520500	missense	probably damaging	1.00
R9110:Astn1	UTSW	1	158668757	missense	probably benign	0.01
R9156:Astn1	UTSW	1	158510985	missense	probably damaging	0.99
R9355:Astn1	UTSW	1	158684151	missense	probably damaging	1.00
R9683:Astn1	UTSW	1	158664049	missense	possibly damaging	0.93
Z1088:Astn1	UTSW	1	158472497	missense	possibly damaging	0.93
Z1088:Astn1	UTSW	1	158597206	missense	possibly damaging	0.91
Z1088:Astn1	UTSW	1	158684096	nonsense	probably null

Posted On

2012-12-12