Mutagenetix > Incidental Mutation

Incidental Mutation 'R8983:Astn1'

683804

Institutional Source

Beutler Lab

Gene Symbol

Astn1

Ensembl Gene

ENSMUSG00000026587

Gene Name

astrotactin 1

Synonyms

MMRRC Submission

068816-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R8983 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

158189843-158519351 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 158491700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142322 (fasta)

Gene Model

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

AlphaFold

Q61137

Predicted Effect

probably benign
Transcript: ENSMUST00000046110

SMART Domains

Protein: ENSMUSP00000039711
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	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 null
Transcript: ENSMUST00000193042

SMART Domains

Protein: ENSMUSP00000142322
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	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: ENSMUST00000194217

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

0.9488

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	T	2: 151,313,272 (GRCm39)	F632I	unknown	Het
5730522E02Rik	T	C	11: 25,719,069 (GRCm39)	T26A	unknown	Het
Ablim1	A	T	19: 57,227,644 (GRCm39)	V7E	probably benign	Het
Adcy5	T	G	16: 34,977,232 (GRCm39)	L255R	possibly damaging	Het
Ahnak	C	A	19: 8,981,477 (GRCm39)	N920K	possibly damaging	Het
Arhgef11	A	G	3: 87,640,508 (GRCm39)	K1251E		Het
Atxn2	A	G	5: 121,916,063 (GRCm39)	Y423C	probably damaging	Het
Ccdc180	T	A	4: 45,909,359 (GRCm39)	V509D	possibly damaging	Het
Ccdc80	T	C	16: 44,924,780 (GRCm39)	V638A	possibly damaging	Het
Ccr6	T	G	17: 8,474,878 (GRCm39)	C28G	probably damaging	Het
Cdca7l	A	G	12: 117,828,902 (GRCm39)		probably benign	Het
Cnot3	T	C	7: 3,654,328 (GRCm39)	I52T	probably damaging	Het
Cped1	A	T	6: 22,138,686 (GRCm39)	N555I	probably benign	Het
Cpne6	A	T	14: 55,753,711 (GRCm39)	I390F	probably damaging	Het
Dlec1	A	G	9: 118,957,419 (GRCm39)	D836G	probably benign	Het
Dnah8	T	A	17: 31,070,628 (GRCm39)	V4438D	probably damaging	Het
Dok3	G	T	13: 55,671,535 (GRCm39)	N345K	probably damaging	Het
Eea1	C	T	10: 95,855,741 (GRCm39)	Q593*	probably null	Het
Eif3m	T	C	2: 104,830,139 (GRCm39)	Y351C	possibly damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Epn3	T	C	11: 94,386,914 (GRCm39)	E152G	probably damaging	Het
Faf2	A	G	13: 54,769,726 (GRCm39)	S25G	probably benign	Het
Fam83b	A	G	9: 76,400,357 (GRCm39)	S249P	probably damaging	Het
Fgl1	A	T	8: 41,653,496 (GRCm39)	S132R	probably benign	Het
Frem3	A	G	8: 81,395,875 (GRCm39)	E1890G	probably damaging	Het
Gpc5	T	A	14: 115,330,118 (GRCm39)	S94T	unknown	Het
Hectd1	A	G	12: 51,791,410 (GRCm39)	V2584A	probably damaging	Het
Kifc3	G	A	8: 95,833,104 (GRCm39)	A498V	probably damaging	Het
Klra6	T	C	6: 129,999,573 (GRCm39)	T132A	probably benign	Het
Loricrin	T	C	3: 91,988,446 (GRCm39)	Y280C	unknown	Het
Lpin2	C	T	17: 71,553,962 (GRCm39)	A931V	unknown	Het
Lpxn	A	G	19: 12,810,522 (GRCm39)	H322R	probably damaging	Het
Megf9	A	G	4: 70,353,634 (GRCm39)	S391P	probably benign	Het
Mipep	G	A	14: 61,080,702 (GRCm39)	V565I	probably benign	Het
Mmrn1	C	T	6: 60,953,042 (GRCm39)	T441I	probably benign	Het
Mrpl48	T	C	7: 100,223,702 (GRCm39)	N14S	probably benign	Het
Ncald	A	G	15: 37,397,512 (GRCm39)	F56S	probably damaging	Het
Or9g3	T	C	2: 85,584,251 (GRCm39)		probably benign	Het
Pals1	G	A	12: 78,884,298 (GRCm39)	D640N	probably damaging	Het
Plcd3	A	G	11: 102,962,092 (GRCm39)	V703A	possibly damaging	Het
Potefam1	A	G	2: 111,030,701 (GRCm39)	S403P	probably benign	Het
Prss59	A	G	6: 40,897,934 (GRCm39)	S250P	possibly damaging	Het
Qser1	T	C	2: 104,617,702 (GRCm39)	I947V	probably benign	Het
Rdx	G	A	9: 51,974,905 (GRCm39)	A14T	probably damaging	Het
Rnf213	A	G	11: 119,321,175 (GRCm39)	D1211G		Het
Sbpl	T	C	17: 24,172,253 (GRCm39)	D222G	unknown	Het
Scn8a	C	A	15: 100,900,030 (GRCm39)	T703K	possibly damaging	Het
Setbp1	A	G	18: 78,902,459 (GRCm39)	S403P	probably benign	Het
Sfmbt2	A	G	2: 10,409,267 (GRCm39)	S71G	probably damaging	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,775 (GRCm39)		probably benign	Het
Smco3	C	T	6: 136,808,730 (GRCm39)	G48D	possibly damaging	Het
Spag9	T	C	11: 93,958,815 (GRCm39)	S280P	probably benign	Het
Thada	T	C	17: 84,538,515 (GRCm39)	T1498A	probably benign	Het
Tmprss7	T	C	16: 45,481,263 (GRCm39)	D641G	probably damaging	Het
Top6bl	T	C	19: 4,695,714 (GRCm39)	I513V	possibly damaging	Het
Trim43a	A	G	9: 88,464,404 (GRCm39)	D105G	probably benign	Het
Utp14b	T	A	1: 78,643,003 (GRCm39)	N300K	probably benign	Het
Vmn2r83	T	G	10: 79,327,360 (GRCm39)	I656S	probably damaging	Het
Zfp646	A	T	7: 127,480,777 (GRCm39)	M985L	probably benign	Het
Zfp777	A	T	6: 48,006,158 (GRCm39)	L412Q	probably damaging	Het

Other mutations in Astn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Astn1	APN	1	158,427,889 (GRCm39)	missense	possibly damaging	0.71
IGL01705:Astn1	APN	1	158,331,883 (GRCm39)	missense	probably damaging	1.00
IGL01790:Astn1	APN	1	158,407,897 (GRCm39)	missense	possibly damaging	0.70
IGL01962:Astn1	APN	1	158,496,201 (GRCm39)	missense	probably damaging	1.00
IGL02000:Astn1	APN	1	158,502,184 (GRCm39)	missense	probably damaging	1.00
IGL02119:Astn1	APN	1	158,338,724 (GRCm39)	intron	probably benign
IGL02168:Astn1	APN	1	158,436,911 (GRCm39)	missense	possibly damaging	0.93
IGL02239:Astn1	APN	1	158,491,700 (GRCm39)	critical splice donor site	probably null
IGL02271:Astn1	APN	1	158,338,520 (GRCm39)	splice site	probably benign
IGL02307:Astn1	APN	1	158,502,184 (GRCm39)	missense	probably damaging	1.00
IGL02504:Astn1	APN	1	158,329,978 (GRCm39)	missense	probably damaging	1.00
IGL02552:Astn1	APN	1	158,332,965 (GRCm39)	missense	possibly damaging	0.90
IGL02903:Astn1	APN	1	158,516,120 (GRCm39)	missense	probably damaging	0.99
IGL03003:Astn1	APN	1	158,439,965 (GRCm39)	missense	probably benign	0.00
IGL03007:Astn1	APN	1	158,496,193 (GRCm39)	splice site	probably benign
IGL03354:Astn1	APN	1	158,516,174 (GRCm39)	missense	probably damaging	1.00
PIT4366001:Astn1	UTSW	1	158,424,781 (GRCm39)	missense	probably benign	0.23
PIT4366001:Astn1	UTSW	1	158,424,779 (GRCm39)	missense	probably benign	0.20
R0024:Astn1	UTSW	1	158,511,785 (GRCm39)	missense	probably damaging	0.99
R0050:Astn1	UTSW	1	158,407,294 (GRCm39)	splice site	probably benign
R0099:Astn1	UTSW	1	158,329,721 (GRCm39)	missense	probably damaging	1.00
R0109:Astn1	UTSW	1	158,491,674 (GRCm39)	missense	possibly damaging	0.79
R0109:Astn1	UTSW	1	158,491,674 (GRCm39)	missense	possibly damaging	0.79
R0365:Astn1	UTSW	1	158,516,118 (GRCm39)	missense	probably damaging	1.00
R0416:Astn1	UTSW	1	158,337,461 (GRCm39)	missense	probably damaging	1.00
R0531:Astn1	UTSW	1	158,427,959 (GRCm39)	missense	probably damaging	0.99
R0735:Astn1	UTSW	1	158,299,959 (GRCm39)	missense	possibly damaging	0.53
R0763:Astn1	UTSW	1	158,337,460 (GRCm39)	missense	possibly damaging	0.93
R0899:Astn1	UTSW	1	158,338,679 (GRCm39)	nonsense	probably null
R1027:Astn1	UTSW	1	158,407,849 (GRCm39)	missense	probably damaging	1.00
R1160:Astn1	UTSW	1	158,427,935 (GRCm39)	missense	possibly damaging	0.83
R1474:Astn1	UTSW	1	158,329,923 (GRCm39)	missense	probably damaging	1.00
R1517:Astn1	UTSW	1	158,407,146 (GRCm39)	splice site	probably benign
R1701:Astn1	UTSW	1	158,331,877 (GRCm39)	missense	possibly damaging	0.54
R1764:Astn1	UTSW	1	158,331,821 (GRCm39)	missense	probably benign	0.35
R1860:Astn1	UTSW	1	158,429,515 (GRCm39)	missense	probably damaging	1.00
R1889:Astn1	UTSW	1	158,332,886 (GRCm39)	splice site	probably null
R1919:Astn1	UTSW	1	158,337,541 (GRCm39)	missense	probably damaging	1.00
R2001:Astn1	UTSW	1	158,348,091 (GRCm39)	missense	probably damaging	1.00
R2007:Astn1	UTSW	1	158,436,875 (GRCm39)	missense	probably damaging	0.97
R2038:Astn1	UTSW	1	158,484,690 (GRCm39)	missense	probably benign	0.29
R2044:Astn1	UTSW	1	158,428,072 (GRCm39)	missense	possibly damaging	0.53
R2084:Astn1	UTSW	1	158,299,978 (GRCm39)	missense	probably damaging	0.99
R2094:Astn1	UTSW	1	158,495,179 (GRCm39)	missense	probably benign	0.02
R2163:Astn1	UTSW	1	158,329,720 (GRCm39)	missense	probably damaging	0.99
R2211:Astn1	UTSW	1	158,484,876 (GRCm39)	missense	probably benign	0.40
R2268:Astn1	UTSW	1	158,329,669 (GRCm39)	missense	probably damaging	1.00
R2269:Astn1	UTSW	1	158,329,669 (GRCm39)	missense	probably damaging	1.00
R2425:Astn1	UTSW	1	158,407,236 (GRCm39)	missense	probably damaging	0.99
R2428:Astn1	UTSW	1	158,439,916 (GRCm39)	missense	possibly damaging	0.66
R2980:Astn1	UTSW	1	158,400,521 (GRCm39)	critical splice acceptor site	probably null
R3713:Astn1	UTSW	1	158,495,102 (GRCm39)	missense	possibly damaging	0.83
R3745:Astn1	UTSW	1	158,329,630 (GRCm39)	missense	probably damaging	1.00
R3926:Astn1	UTSW	1	158,407,227 (GRCm39)	missense	possibly damaging	0.95
R4345:Astn1	UTSW	1	158,329,602 (GRCm39)	splice site	probably null
R4625:Astn1	UTSW	1	158,407,864 (GRCm39)	missense	probably damaging	1.00
R4627:Astn1	UTSW	1	158,329,821 (GRCm39)	missense	possibly damaging	0.55
R4970:Astn1	UTSW	1	158,484,763 (GRCm39)	missense	possibly damaging	0.88
R5112:Astn1	UTSW	1	158,484,763 (GRCm39)	missense	possibly damaging	0.88
R5257:Astn1	UTSW	1	158,440,102 (GRCm39)	missense	probably damaging	1.00
R5292:Astn1	UTSW	1	158,407,933 (GRCm39)	critical splice donor site	probably null
R5889:Astn1	UTSW	1	158,427,950 (GRCm39)	missense	possibly damaging	0.93
R5909:Astn1	UTSW	1	158,429,507 (GRCm39)	missense	probably damaging	1.00
R6020:Astn1	UTSW	1	158,337,563 (GRCm39)	missense	probably damaging	1.00
R6349:Astn1	UTSW	1	158,491,691 (GRCm39)	nonsense	probably null
R6481:Astn1	UTSW	1	158,440,032 (GRCm39)	missense	probably benign	0.29
R6736:Astn1	UTSW	1	158,338,718 (GRCm39)	critical splice donor site	probably null
R6833:Astn1	UTSW	1	158,491,692 (GRCm39)	missense	probably benign	0.40
R6834:Astn1	UTSW	1	158,491,692 (GRCm39)	missense	probably benign	0.40
R6860:Astn1	UTSW	1	158,440,042 (GRCm39)	missense	probably damaging	1.00
R6874:Astn1	UTSW	1	158,491,644 (GRCm39)	nonsense	probably null
R7062:Astn1	UTSW	1	158,516,081 (GRCm39)	critical splice acceptor site	probably null
R7133:Astn1	UTSW	1	158,400,557 (GRCm39)	missense	probably damaging	1.00
R7355:Astn1	UTSW	1	158,491,846 (GRCm39)	splice site	probably null
R7402:Astn1	UTSW	1	158,380,425 (GRCm39)	intron	probably benign
R7412:Astn1	UTSW	1	158,329,919 (GRCm39)	missense	probably damaging	0.98
R7487:Astn1	UTSW	1	158,438,352 (GRCm39)	splice site	probably null
R7537:Astn1	UTSW	1	158,495,208 (GRCm39)	splice site	probably null
R7537:Astn1	UTSW	1	158,332,956 (GRCm39)	missense	possibly damaging	0.84
R7635:Astn1	UTSW	1	158,495,105 (GRCm39)	nonsense	probably null
R7890:Astn1	UTSW	1	158,407,903 (GRCm39)	missense	probably damaging	1.00
R7894:Astn1	UTSW	1	158,429,508 (GRCm39)	missense	probably damaging	0.98
R7904:Astn1	UTSW	1	158,424,886 (GRCm39)	missense	probably benign	0.37
R8048:Astn1	UTSW	1	158,516,208 (GRCm39)	missense	probably benign	0.00
R8061:Astn1	UTSW	1	158,331,920 (GRCm39)	critical splice donor site	probably null
R8096:Astn1	UTSW	1	158,436,890 (GRCm39)	missense	probably damaging	1.00
R8327:Astn1	UTSW	1	158,436,850 (GRCm39)	missense	probably damaging	1.00
R8374:Astn1	UTSW	1	158,329,803 (GRCm39)	missense	probably damaging	1.00
R8400:Astn1	UTSW	1	158,484,670 (GRCm39)	missense	probably benign	0.09
R9013:Astn1	UTSW	1	158,348,070 (GRCm39)	missense	probably damaging	1.00
R9110:Astn1	UTSW	1	158,496,327 (GRCm39)	missense	probably benign	0.01
R9156:Astn1	UTSW	1	158,338,555 (GRCm39)	missense	probably damaging	0.99
R9355:Astn1	UTSW	1	158,511,721 (GRCm39)	missense	probably damaging	1.00
R9683:Astn1	UTSW	1	158,491,619 (GRCm39)	missense	possibly damaging	0.93
Z1088:Astn1	UTSW	1	158,511,666 (GRCm39)	nonsense	probably null
Z1088:Astn1	UTSW	1	158,424,776 (GRCm39)	missense	possibly damaging	0.91
Z1088:Astn1	UTSW	1	158,300,067 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- ACATAGGACCCTGACACTAGG -3'
(R):5'- AAACAGCTTGTGTGCCTGC -3'

Sequencing Primer
(F):5'- GACACTAGGTCTCTTGGTAATGACC -3'
(R):5'- GCTCCTTCTATCCTACCGAAAG -3'

Posted On

2021-10-11