Mutagenetix > Incidental Mutation

Incidental Mutation 'R4835:Auts2'

373142

Institutional Source

Beutler Lab

Gene Symbol

Auts2

Ensembl Gene

ENSMUSG00000029673

Gene Name

autism susceptibility candidate 2

Synonyms

D830032G16Rik, A730011F23Rik, 2700063G02Rik

MMRRC Submission

042450-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4835 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

131466171-132572059 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 131494931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 117 (I117T)

Ref Sequence

ENSEMBL: ENSMUSP00000124730 (fasta)

Gene Model

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

AlphaFold

A0A087WPF7

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 damaging
Transcript: ENSMUST00000161374
AA Change: I117T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124730
Gene: ENSMUSG00000029673
AA Change: I117T

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

possibly damaging
Transcript: ENSMUST00000161804
AA Change: I132T

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124027
Gene: ENSMUSG00000029673
AA Change: I132T

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

probably damaging
Transcript: ENSMUST00000187544
AA Change: I341T

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139759
Gene: ENSMUSG00000029673
AA Change: I341T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198149

Meta Mutation Damage Score

0.0964

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

98% (96/98)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	T	7: 29,274,326 (GRCm39)		noncoding transcript	Het
4933434E20Rik	A	G	3: 89,970,516 (GRCm39)	N17D	probably benign	Het
A1bg	T	C	15: 60,792,100 (GRCm39)	D176G	probably benign	Het
Abcg5	A	T	17: 84,966,076 (GRCm39)	M428K	possibly damaging	Het
Adam1a	A	T	5: 121,657,752 (GRCm39)	C514S	probably damaging	Het
Angptl3	A	G	4: 98,925,649 (GRCm39)	Q325R	probably benign	Het
Ankrd26	C	T	6: 118,525,811 (GRCm39)	W378*	probably null	Het
Apob	T	C	12: 8,065,391 (GRCm39)	V4087A	possibly damaging	Het
AW146154	T	A	7: 41,129,892 (GRCm39)	E408V	probably damaging	Het
Bicd1	A	T	6: 149,385,588 (GRCm39)	N107I	probably benign	Het
Blm	T	C	7: 80,159,294 (GRCm39)	S281G	probably benign	Het
Btaf1	T	A	19: 36,979,858 (GRCm39)	D1542E	probably benign	Het
C2cd2l	A	G	9: 44,226,442 (GRCm39)		probably null	Het
Capn8	C	A	1: 182,432,116 (GRCm39)	N362K	probably damaging	Het
Ccdc14	T	G	16: 34,525,408 (GRCm39)	S186A	probably damaging	Het
Cdca4	A	G	12: 112,785,167 (GRCm39)	L187P	probably damaging	Het
Chil6	T	A	3: 106,313,290 (GRCm39)	K20*	probably null	Het
Cmss1	A	T	16: 57,136,545 (GRCm39)	L109*	probably null	Het
Cmtm6	G	T	9: 114,560,410 (GRCm39)	W36L	probably benign	Het
Cnksr3	T	G	10: 7,110,757 (GRCm39)	I35L	possibly damaging	Het
Col4a2	G	T	8: 11,473,570 (GRCm39)	G534*	probably null	Het
Col5a1	T	G	2: 27,915,656 (GRCm39)	V180G	probably damaging	Het
Ctnna3	T	C	10: 63,417,723 (GRCm39)	F154L	probably benign	Het
Fabp7	G	A	10: 57,661,676 (GRCm39)	V50M	possibly damaging	Het
Fam170a	T	A	18: 50,415,050 (GRCm39)	V232D	probably damaging	Het
Fam186a	T	G	15: 99,843,689 (GRCm39)	T852P	unknown	Het
Fam20a	T	C	11: 109,564,389 (GRCm39)	I455V	probably benign	Het
Fbxl6	C	T	15: 76,421,004 (GRCm39)	V324M	probably damaging	Het
Galnt18	T	C	7: 111,378,730 (GRCm39)	T9A	probably damaging	Het
Golgb1	T	A	16: 36,711,769 (GRCm39)	M191K	possibly damaging	Het
Gpld1	A	G	13: 25,166,699 (GRCm39)	T650A	probably benign	Het
Gprc5d	A	G	6: 135,093,515 (GRCm39)	F131L	probably benign	Het
H2az2	C	T	11: 6,389,437 (GRCm39)	G7E	unknown	Het
Haus4	A	T	14: 54,783,292 (GRCm39)		probably null	Het
Helq	A	G	5: 100,922,029 (GRCm39)	I725T	possibly damaging	Het
Igsf23	T	A	7: 19,675,755 (GRCm39)	D117V	possibly damaging	Het
Kiz	A	T	2: 146,784,008 (GRCm39)	S514C	probably damaging	Het
Klhl6	A	T	16: 19,775,783 (GRCm39)	N258K	probably benign	Het
Krt72	G	C	15: 101,689,508 (GRCm39)		probably null	Het
Large1	A	T	8: 73,774,975 (GRCm39)	I245N	probably damaging	Het
Lrrc31	T	C	3: 30,733,306 (GRCm39)	I469M	probably damaging	Het
Lypd4	T	A	7: 24,566,121 (GRCm39)	I68F	probably benign	Het
Mast1	A	G	8: 85,650,408 (GRCm39)	S442P	probably damaging	Het
Mmp20	T	A	9: 7,645,300 (GRCm39)	H283Q	probably benign	Het
Mrps5	G	A	2: 127,445,627 (GRCm39)	V385M	possibly damaging	Het
Ms4a15	T	C	19: 10,956,590 (GRCm39)	K241E	possibly damaging	Het
Myt1	A	G	2: 181,439,255 (GRCm39)	E259G	probably damaging	Het
Myt1l	C	A	12: 29,945,304 (GRCm39)	T1023K	unknown	Het
Ncapd3	T	C	9: 26,997,342 (GRCm39)	L1221P	probably damaging	Het
Ncoa6	A	G	2: 155,249,053 (GRCm39)	V1417A	possibly damaging	Het
Nmnat1	A	G	4: 149,557,802 (GRCm39)	V80A	possibly damaging	Het
Nwd2	A	G	5: 63,965,189 (GRCm39)	E1591G	probably benign	Het
Or10ac1	A	G	6: 42,515,770 (GRCm39)	F62S	probably damaging	Het
Or8j3b	A	G	2: 86,204,853 (GRCm39)	L301S	possibly damaging	Het
Osbpl1a	A	T	18: 12,901,593 (GRCm39)		probably null	Het
Papln	T	C	12: 83,821,194 (GRCm39)	I204T	probably damaging	Het
Phf1	A	G	17: 27,153,652 (GRCm39)	T97A	probably benign	Het
Plxnb1	A	G	9: 108,934,442 (GRCm39)	D890G	probably damaging	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Rbp2	G	A	9: 98,389,876 (GRCm39)	C96Y	probably damaging	Het
Rgmb	A	T	17: 16,027,624 (GRCm39)	M365K	possibly damaging	Het
Ric1	A	G	19: 29,572,936 (GRCm39)	N792S	possibly damaging	Het
Ruvbl1	T	C	6: 88,474,211 (GRCm39)	Y405H	possibly damaging	Het
Scaf4	A	G	16: 90,047,195 (GRCm39)	M394T	unknown	Het
Siglech	T	A	7: 55,418,177 (GRCm39)	C48*	probably null	Het
Skic2	A	G	17: 35,061,897 (GRCm39)	V695A	possibly damaging	Het
Slc2a5	A	G	4: 150,224,462 (GRCm39)	T320A	probably benign	Het
Slc6a7	T	C	18: 61,135,277 (GRCm39)	Y417C	probably benign	Het
Sox21	A	G	14: 118,472,336 (GRCm39)	C238R	possibly damaging	Het
Tbata	A	T	10: 61,019,132 (GRCm39)	K109N	probably damaging	Het
Tecpr2	T	G	12: 110,921,164 (GRCm39)	S1246A	probably benign	Het
Tekt3	A	G	11: 62,972,085 (GRCm39)	D247G	probably benign	Het
Tenm3	A	T	8: 48,766,271 (GRCm39)		probably null	Het
Thada	A	T	17: 84,748,532 (GRCm39)		probably null	Het
Tpcn2	C	T	7: 144,826,088 (GRCm39)	G204R	probably damaging	Het
Tpm2	T	C	4: 43,519,220 (GRCm39)		probably null	Het
Trbv24	T	C	6: 41,195,026 (GRCm39)		probably benign	Het
Tyw1	A	G	5: 130,305,899 (GRCm39)	R341G	probably benign	Het
Vmn1r183	T	G	7: 23,754,564 (GRCm39)	N122K	probably benign	Het
Vmn2r61	T	A	7: 41,916,459 (GRCm39)	H357Q	possibly damaging	Het
Vps13b	C	T	15: 35,869,518 (GRCm39)	T2674I	probably damaging	Het
Vps13b	T	C	15: 35,910,439 (GRCm39)	L3401P	probably benign	Het
Vps16	T	G	2: 130,280,220 (GRCm39)		probably benign	Het
Vrtn	T	A	12: 84,696,468 (GRCm39)	I406N	probably damaging	Het
Vwa8	A	T	14: 79,172,053 (GRCm39)	Y278F	probably benign	Het
Washc4	A	T	10: 83,415,376 (GRCm39)	I789F	possibly damaging	Het
Zbtb20	C	A	16: 43,438,761 (GRCm39)	T627K	probably damaging	Het
Zfyve16	A	T	13: 92,658,693 (GRCm39)	I406K	probably benign	Het
Zfyve9	A	C	4: 108,575,195 (GRCm39)	S629A	possibly damaging	Het
Zpld1	A	T	16: 55,068,618 (GRCm39)	N164K	probably damaging	Het

Other mutations in Auts2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01739:Auts2	APN	5	131,469,056 (GRCm39)	missense	probably benign	0.00
IGL01751:Auts2	APN	5	131,501,198 (GRCm39)	missense	probably damaging	0.99
IGL02070:Auts2	APN	5	131,499,259 (GRCm39)	missense	probably damaging	1.00
R0032:Auts2	UTSW	5	131,468,931 (GRCm39)	missense	probably damaging	1.00
R0033:Auts2	UTSW	5	131,468,931 (GRCm39)	missense	probably damaging	1.00
R0046:Auts2	UTSW	5	131,799,624 (GRCm39)	exon	noncoding transcript
R0399:Auts2	UTSW	5	131,469,362 (GRCm39)	missense	probably benign	0.37
R0412:Auts2	UTSW	5	131,475,669 (GRCm39)	missense	probably benign	0.02
R0551:Auts2	UTSW	5	131,469,307 (GRCm39)	missense	possibly damaging	0.75
R1536:Auts2	UTSW	5	131,516,302 (GRCm39)	intron	probably benign
R1573:Auts2	UTSW	5	131,469,325 (GRCm39)	missense	probably damaging	1.00
R1789:Auts2	UTSW	5	131,501,288 (GRCm39)	missense	probably damaging	1.00
R1912:Auts2	UTSW	5	131,472,412 (GRCm39)	missense	probably damaging	1.00
R2431:Auts2	UTSW	5	132,287,887 (GRCm39)	nonsense	probably null
R3745:Auts2	UTSW	5	131,505,425 (GRCm39)	utr 5 prime	probably benign
R4290:Auts2	UTSW	5	131,503,809 (GRCm39)	missense	probably damaging	1.00
R4575:Auts2	UTSW	5	132,287,773 (GRCm39)	missense	probably benign	0.17
R4576:Auts2	UTSW	5	132,287,773 (GRCm39)	missense	probably benign	0.17
R4578:Auts2	UTSW	5	132,287,773 (GRCm39)	missense	probably benign	0.17
R4623:Auts2	UTSW	5	131,469,221 (GRCm39)	missense	probably benign	0.25
R4632:Auts2	UTSW	5	131,501,113 (GRCm39)	missense	probably damaging	1.00
R4663:Auts2	UTSW	5	131,468,476 (GRCm39)	missense	probably damaging	1.00
R4881:Auts2	UTSW	5	131,501,288 (GRCm39)	missense	probably damaging	1.00
R5030:Auts2	UTSW	5	131,472,336 (GRCm39)	missense	probably benign	0.00
R5032:Auts2	UTSW	5	131,505,730 (GRCm39)	utr 5 prime	probably benign
R5078:Auts2	UTSW	5	132,287,786 (GRCm39)	missense	possibly damaging	0.85
R5093:Auts2	UTSW	5	131,468,296 (GRCm39)	missense	probably damaging	0.99
R5182:Auts2	UTSW	5	131,503,919 (GRCm39)	missense	probably null	0.01
R5305:Auts2	UTSW	5	131,472,632 (GRCm39)	intron	probably benign
R5429:Auts2	UTSW	5	131,501,173 (GRCm39)	missense	probably damaging	1.00
R5601:Auts2	UTSW	5	131,505,662 (GRCm39)	utr 5 prime	probably benign
R5725:Auts2	UTSW	5	131,468,584 (GRCm39)	missense	probably benign	0.35
R5990:Auts2	UTSW	5	131,505,734 (GRCm39)	utr 5 prime	probably benign
R6074:Auts2	UTSW	5	131,505,828 (GRCm39)	utr 5 prime	probably benign
R6130:Auts2	UTSW	5	131,469,061 (GRCm39)	missense	probably damaging	1.00
R6321:Auts2	UTSW	5	131,494,953 (GRCm39)	missense	probably damaging	1.00
R6974:Auts2	UTSW	5	131,469,437 (GRCm39)	missense	probably benign	0.01
R7000:Auts2	UTSW	5	131,469,056 (GRCm39)	missense	probably benign	0.01
R7014:Auts2	UTSW	5	131,494,961 (GRCm39)	missense	probably damaging	1.00
R7154:Auts2	UTSW	5	131,480,731 (GRCm39)	missense
R7812:Auts2	UTSW	5	131,501,284 (GRCm39)	missense
R7922:Auts2	UTSW	5	131,469,211 (GRCm39)	missense
R8159:Auts2	UTSW	5	131,488,963 (GRCm39)	critical splice donor site	probably null
R8553:Auts2	UTSW	5	131,468,981 (GRCm39)	missense	probably benign	0.00
R8873:Auts2	UTSW	5	131,472,502 (GRCm39)	missense
R8970:Auts2	UTSW	5	132,287,791 (GRCm39)	missense	possibly damaging	0.52
R9348:Auts2	UTSW	5	131,490,155 (GRCm39)	missense
R9500:Auts2	UTSW	5	131,505,620 (GRCm39)	missense	unknown
Z1088:Auts2	UTSW	5	131,505,392 (GRCm39)	splice site	probably benign

Predicted Primers

PCR Primer
(F):5'- AAAGTCTCCTGGTCCCCTTG -3'
(R):5'- CATTCATGGCGCATCTGTG -3'

Sequencing Primer
(F):5'- CCCCTTGGGTGTGTGGACTTATC -3'
(R):5'- CTTTCTATGGGAATTGGGACA -3'

Posted On

2016-03-01