Mutagenetix > Incidental Mutations

Incidental Mutation 'R3745:Auts2'

473447

Institutional Source

Beutler Lab

Gene Symbol

Auts2

Ensembl Gene

ENSMUSG00000029673

Gene Name

autism susceptibility candidate 2

Synonyms

D830032G16Rik, 2700063G02Rik, A730011F23Rik

MMRRC Submission

040731-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3745 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

131437333-132543344 bp(-) (GRCm38)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to G at 131476587 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124027 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000161374] [ENSMUST00000161804] [ENSMUST00000187544]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159507

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160071

SMART Domains

Protein: ENSMUSP00000125349
Gene: ENSMUSG00000029673

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
low complexity region	67	84	N/A	INTRINSIC
low complexity region	92	105	N/A	INTRINSIC
Pfam:Auts2	194	406	2.3e-108	PFAM
low complexity region	433	446	N/A	INTRINSIC
low complexity region	555	565	N/A	INTRINSIC
low complexity region	621	636	N/A	INTRINSIC
low complexity region	763	779	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161226

SMART Domains

Protein: ENSMUSP00000124900
Gene: ENSMUSG00000029673

Domain	Start	End	E-Value	Type
low complexity region	11	45	N/A	INTRINSIC
low complexity region	62	82	N/A	INTRINSIC
low complexity region	133	150	N/A	INTRINSIC
low complexity region	199	214	N/A	INTRINSIC
low complexity region	297	315	N/A	INTRINSIC
low complexity region	330	355	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161374

SMART Domains

Protein: ENSMUSP00000124730
Gene: ENSMUSG00000029673

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
low complexity region	67	84	N/A	INTRINSIC
low complexity region	92	105	N/A	INTRINSIC
Pfam:Auts2	172	384	1.5e-112	PFAM
low complexity region	411	424	N/A	INTRINSIC
low complexity region	533	543	N/A	INTRINSIC
low complexity region	599	614	N/A	INTRINSIC
low complexity region	741	757	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161804

SMART Domains

Protein: ENSMUSP00000124027
Gene: ENSMUSG00000029673

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
low complexity region	67	84	N/A	INTRINSIC
low complexity region	92	105	N/A	INTRINSIC
Pfam:Auts2	187	399	3.9e-113	PFAM
low complexity region	426	439	N/A	INTRINSIC
low complexity region	548	558	N/A	INTRINSIC
low complexity region	614	629	N/A	INTRINSIC
low complexity region	756	772	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182575

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182974

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183153

Predicted Effect

unknown
Transcript: ENSMUST00000187544
AA Change: Y146H

SMART Domains

Protein: ENSMUSP00000139759
Gene: ENSMUSG00000029673
AA Change: Y146H

Domain	Start	End	E-Value	Type
low complexity region	50	68	N/A	INTRINSIC
low complexity region	83	125	N/A	INTRINSIC
low complexity region	127	161	N/A	INTRINSIC
low complexity region	168	183	N/A	INTRINSIC
low complexity region	212	224	N/A	INTRINSIC
low complexity region	276	293	N/A	INTRINSIC
low complexity region	301	314	N/A	INTRINSIC
Pfam:Auts2	396	608	4.3e-109	PFAM
low complexity region	635	648	N/A	INTRINSIC
low complexity region	757	767	N/A	INTRINSIC
low complexity region	823	838	N/A	INTRINSIC
low complexity region	965	981	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (44/45)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a brain-specific knockout are smaller than controls, and exhibit behavioral defects such as less vocalizations, impairments in righting response and geotaxis, and decreased food intake. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
Acot9	G	A	X: 155,271,945		probably benign	Het
Akap10	A	G	11: 61,915,305	V199A	probably benign	Het
Aox4	C	T	1: 58,245,870	H594Y	probably damaging	Het
Arhgap35	A	T	7: 16,563,722	Y473N	probably damaging	Het
Aspn	G	A	13: 49,566,560	E351K	probably damaging	Het
Astn1	G	T	1: 158,502,060	A162S	probably damaging	Het
Cog6	A	T	3: 52,992,819	M507K	probably benign	Het
Crct1	C	A	3: 93,014,707		probably benign	Het
Cyp2d11	A	C	15: 82,391,855	I175S	probably benign	Het
Dclk1	A	G	3: 55,247,442	N98D	possibly damaging	Het
Erich5	T	A	15: 34,470,732	C36S	probably damaging	Het
F5	A	G	1: 164,186,779	I540V	possibly damaging	Het
Fam20a	A	T	11: 109,677,790	S303R	probably benign	Het
Fam214a	T	C	9: 75,009,862	V581A	probably benign	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Gbp9	C	A	5: 105,105,858		probably benign	Het
Gm6408	G	T	5: 146,484,436	V292F	probably damaging	Het
Kmt2a	A	G	9: 44,831,340		probably benign	Het
Lrriq1	T	C	10: 103,170,856	D1136G	probably damaging	Het
Macrod2	C	A	2: 141,810,629	T204K	probably damaging	Het
Mlkl	A	G	8: 111,315,567		probably benign	Het
Msantd1	T	A	5: 34,923,467	V155E	possibly damaging	Het
Myo3b	A	G	2: 70,234,485		probably benign	Het
Nbn	T	A	4: 15,976,163	C375S	possibly damaging	Het
Nell2	A	C	15: 95,432,673	C231W	probably damaging	Het
Nipbl	A	G	15: 8,358,874	S421P	probably benign	Het
Npr3	A	T	15: 11,905,491	V50E	probably damaging	Het
Olfr1425	A	G	19: 12,074,380	L84P	probably damaging	Het
Pclo	T	C	5: 14,678,421		probably benign	Het
Pkn3	A	G	2: 30,090,341	K785R	probably damaging	Het
Ppef2	T	A	5: 92,239,151		probably benign	Het
Prdm10	T	C	9: 31,340,407	I357T	possibly damaging	Het
Prrc2c	G	A	1: 162,698,185	T284I	unknown	Het
Psma3	T	C	12: 70,978,748	S13P	possibly damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Rpl6l	T	C	10: 111,126,365		noncoding transcript	Het
Tex11	A	G	X: 100,916,572	V522A	probably benign	Het
Thsd7b	A	G	1: 129,678,241	E573G	probably benign	Het
Tom1l1	A	G	11: 90,657,741	S259P	probably benign	Het
Trpm8	A	G	1: 88,348,327	E549G	probably benign	Het
Vmn1r66	C	T	7: 10,274,321	A262T	possibly damaging	Het
Zc3h13	T	A	14: 75,330,661	D1131E	probably benign	Het
Zfp445	A	C	9: 122,854,726	D289E	probably benign	Het

Other mutations in Auts2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01739:Auts2	APN	5	131440218	missense	probably benign	0.00
IGL01751:Auts2	APN	5	131472360	missense	probably damaging	0.99
IGL02070:Auts2	APN	5	131470421	missense	probably damaging	1.00
R0032:Auts2	UTSW	5	131440093	missense	probably damaging	1.00
R0033:Auts2	UTSW	5	131440093	missense	probably damaging	1.00
R0046:Auts2	UTSW	5	131770785	exon	noncoding transcript
R0399:Auts2	UTSW	5	131440524	missense	probably benign	0.37
R0412:Auts2	UTSW	5	131446831	missense	probably benign	0.02
R0551:Auts2	UTSW	5	131440469	missense	possibly damaging	0.75
R1536:Auts2	UTSW	5	131487463	intron	probably benign
R1573:Auts2	UTSW	5	131440487	missense	probably damaging	1.00
R1789:Auts2	UTSW	5	131472450	missense	probably damaging	1.00
R1912:Auts2	UTSW	5	131443574	missense	probably damaging	1.00
R2431:Auts2	UTSW	5	132259048	nonsense	probably null
R4290:Auts2	UTSW	5	131474971	missense	probably damaging	1.00
R4575:Auts2	UTSW	5	132258934	missense	probably benign	0.17
R4576:Auts2	UTSW	5	132258934	missense	probably benign	0.17
R4578:Auts2	UTSW	5	132258934	missense	probably benign	0.17
R4623:Auts2	UTSW	5	131440383	missense	probably benign	0.25
R4632:Auts2	UTSW	5	131472275	missense	probably damaging	1.00
R4663:Auts2	UTSW	5	131439638	missense	probably damaging	1.00
R4835:Auts2	UTSW	5	131466093	missense	probably damaging	1.00
R4881:Auts2	UTSW	5	131472450	missense	probably damaging	1.00
R5030:Auts2	UTSW	5	131443498	missense	probably benign	0.00
R5032:Auts2	UTSW	5	131476891	utr 5 prime	probably benign
R5078:Auts2	UTSW	5	132258947	missense	possibly damaging	0.85
R5093:Auts2	UTSW	5	131439458	missense	probably damaging	0.99
R5182:Auts2	UTSW	5	131475081	missense	probably null	0.01
R5305:Auts2	UTSW	5	131443794	intron	probably benign
R5429:Auts2	UTSW	5	131472335	missense	probably damaging	1.00
R5601:Auts2	UTSW	5	131476823	utr 5 prime	probably benign
R5725:Auts2	UTSW	5	131439746	missense	probably benign	0.35
R5990:Auts2	UTSW	5	131476895	utr 5 prime	probably benign
R6074:Auts2	UTSW	5	131476989	utr 5 prime	probably benign
R6130:Auts2	UTSW	5	131440223	missense	probably damaging	1.00
R6321:Auts2	UTSW	5	131466115	missense	probably damaging	1.00
R6974:Auts2	UTSW	5	131440599	missense	probably benign	0.01
R7000:Auts2	UTSW	5	131440218	missense	probably benign	0.01
R7014:Auts2	UTSW	5	131466123	missense	probably damaging	1.00
R7154:Auts2	UTSW	5	131451893	missense
R7812:Auts2	UTSW	5	131472446	missense
R7922:Auts2	UTSW	5	131440373	missense
R8159:Auts2	UTSW	5	131460125	critical splice donor site	probably null
R8553:Auts2	UTSW	5	131440143	missense	probably benign	0.00
Z1088:Auts2	UTSW	5	131476554	splice site	probably benign

Predicted Primers

Posted On

2017-04-14