Incidental Mutation 'R1536:Auts2'
| ID |
169522 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Auts2
|
| Ensembl Gene |
ENSMUSG00000029673 |
| Gene Name |
autism susceptibility candidate 2 |
| Synonyms |
D830032G16Rik, 2700063G02Rik, A730011F23Rik |
| MMRRC Submission |
039575-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1536 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
131437333-132543344 bp(-) (GRCm38) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to T
at 131487463 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161374]
[ENSMUST00000161804]
|
| AlphaFold |
A0A087WPF7 |
| 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 |
unknown
Transcript: ENSMUST00000178463
AA Change: G140E
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182575
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182974
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183153
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.5%
|
| Validation Efficiency |
98% (59/60) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
T |
5: 87,970,665 (GRCm38) |
I3F |
probably benign |
Het |
| 4930590J08Rik |
A |
G |
6: 91,917,035 (GRCm38) |
N211S |
probably benign |
Het |
| A2ml1 |
A |
T |
6: 128,547,233 (GRCm38) |
Y1145* |
probably null |
Het |
| Abca7 |
A |
G |
10: 80,014,230 (GRCm38) |
D1972G |
probably benign |
Het |
| Adamts19 |
A |
T |
18: 59,052,615 (GRCm38) |
D1187V |
probably damaging |
Het |
| Adcy6 |
G |
C |
15: 98,600,007 (GRCm38) |
I421M |
probably damaging |
Het |
| Afap1 |
C |
A |
5: 35,974,491 (GRCm38) |
H387Q |
probably damaging |
Het |
| Atp8b1 |
C |
T |
18: 64,545,264 (GRCm38) |
V854M |
probably damaging |
Het |
| Cbll1 |
T |
C |
12: 31,487,856 (GRCm38) |
D300G |
probably damaging |
Het |
| Cd200r4 |
A |
T |
16: 44,833,049 (GRCm38) |
T61S |
possibly damaging |
Het |
| Chmp4c |
G |
T |
3: 10,389,684 (GRCm38) |
V207L |
probably benign |
Het |
| Cntn5 |
T |
C |
9: 9,976,316 (GRCm38) |
T413A |
possibly damaging |
Het |
| Cox7a2 |
T |
A |
9: 79,758,581 (GRCm38) |
|
probably null |
Het |
| Cwc27 |
A |
G |
13: 104,797,306 (GRCm38) |
L236P |
probably damaging |
Het |
| Diaph1 |
A |
G |
18: 37,896,093 (GRCm38) |
|
probably null |
Het |
| Dst |
T |
A |
1: 34,260,372 (GRCm38) |
|
probably benign |
Het |
| Ear1 |
T |
A |
14: 43,819,126 (GRCm38) |
H95L |
probably damaging |
Het |
| Enpp1 |
T |
A |
10: 24,641,834 (GRCm38) |
H898L |
probably benign |
Het |
| Entpd5 |
G |
A |
12: 84,382,295 (GRCm38) |
R321* |
probably null |
Het |
| Ercc6l2 |
C |
A |
13: 63,824,871 (GRCm38) |
N177K |
possibly damaging |
Het |
| Ergic1 |
T |
C |
17: 26,641,706 (GRCm38) |
|
probably null |
Het |
| Erich6 |
A |
T |
3: 58,626,598 (GRCm38) |
I336N |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 53,105,537 (GRCm38) |
E424G |
probably damaging |
Het |
| Galnt3 |
A |
T |
2: 66,084,206 (GRCm38) |
D622E |
probably damaging |
Het |
| Gjd4 |
T |
A |
18: 9,280,569 (GRCm38) |
T170S |
probably damaging |
Het |
| Gm5611 |
G |
A |
9: 17,030,607 (GRCm38) |
|
noncoding transcript |
Het |
| Gpc5 |
T |
A |
14: 115,399,250 (GRCm38) |
N448K |
probably benign |
Het |
| Klra3 |
G |
C |
6: 130,333,144 (GRCm38) |
R138G |
probably benign |
Het |
| Man2b2 |
T |
C |
5: 36,820,927 (GRCm38) |
T338A |
probably benign |
Het |
| Mbtps1 |
A |
T |
8: 119,546,125 (GRCm38) |
S94T |
probably benign |
Het |
| Muc3a |
A |
T |
5: 137,210,081 (GRCm38) |
S205T |
unknown |
Het |
| Nav2 |
C |
A |
7: 49,545,934 (GRCm38) |
D1019E |
probably damaging |
Het |
| Neurl4 |
T |
A |
11: 69,903,426 (GRCm38) |
L236* |
probably null |
Het |
| Olfr272 |
A |
G |
4: 52,911,260 (GRCm38) |
V178A |
probably benign |
Het |
| Plcxd3 |
T |
C |
15: 4,516,611 (GRCm38) |
|
probably benign |
Het |
| Pprc1 |
T |
C |
19: 46,071,526 (GRCm38) |
|
probably benign |
Het |
| Prkaa2 |
T |
A |
4: 105,075,450 (GRCm38) |
N67I |
probably damaging |
Het |
| Prom1 |
T |
A |
5: 44,018,353 (GRCm38) |
Y508F |
probably benign |
Het |
| Prx |
A |
G |
7: 27,517,258 (GRCm38) |
M534V |
probably damaging |
Het |
| Rps6kc1 |
C |
T |
1: 190,871,768 (GRCm38) |
R219Q |
possibly damaging |
Het |
| Sbf2 |
T |
C |
7: 110,378,043 (GRCm38) |
Y628C |
probably damaging |
Het |
| Slc1a2 |
A |
T |
2: 102,777,510 (GRCm38) |
D501V |
probably benign |
Het |
| Spata31 |
A |
T |
13: 64,921,382 (GRCm38) |
Q448L |
probably damaging |
Het |
| Stk35 |
T |
C |
2: 129,811,235 (GRCm38) |
|
probably benign |
Het |
| Stxbp5 |
T |
A |
10: 9,838,092 (GRCm38) |
R234S |
probably damaging |
Het |
| Tifab |
A |
G |
13: 56,176,288 (GRCm38) |
V114A |
probably benign |
Het |
| Tiprl |
A |
G |
1: 165,228,406 (GRCm38) |
M49T |
probably benign |
Het |
| Tlr12 |
A |
G |
4: 128,617,752 (GRCm38) |
L235P |
possibly damaging |
Het |
| Tmem57 |
A |
G |
4: 134,804,507 (GRCm38) |
V617A |
probably damaging |
Het |
| Trim43b |
A |
T |
9: 89,085,358 (GRCm38) |
C407* |
probably null |
Het |
| Txndc17 |
C |
A |
11: 72,207,707 (GRCm38) |
F28L |
probably damaging |
Het |
| Vmn2r27 |
T |
C |
6: 124,200,690 (GRCm38) |
R452G |
probably damaging |
Het |
| Vmn2r3 |
T |
A |
3: 64,275,117 (GRCm38) |
D387V |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,875,566 (GRCm38) |
I2699T |
probably damaging |
Het |
| Zfp944 |
G |
T |
17: 22,339,716 (GRCm38) |
Y183* |
probably null |
Het |
|
| Other mutations in Auts2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01739:Auts2
|
APN |
5 |
131,440,218 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01751:Auts2
|
APN |
5 |
131,472,360 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02070:Auts2
|
APN |
5 |
131,470,421 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0032:Auts2
|
UTSW |
5 |
131,440,093 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0033:Auts2
|
UTSW |
5 |
131,440,093 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0046:Auts2
|
UTSW |
5 |
131,770,785 (GRCm38) |
exon |
noncoding transcript |
|
|
R0399:Auts2
|
UTSW |
5 |
131,440,524 (GRCm38) |
missense |
probably benign |
0.37 |
|
R0412:Auts2
|
UTSW |
5 |
131,446,831 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0551:Auts2
|
UTSW |
5 |
131,440,469 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R1573:Auts2
|
UTSW |
5 |
131,440,487 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1789:Auts2
|
UTSW |
5 |
131,472,450 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1912:Auts2
|
UTSW |
5 |
131,443,574 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2431:Auts2
|
UTSW |
5 |
132,259,048 (GRCm38) |
nonsense |
probably null |
|
|
R3745:Auts2
|
UTSW |
5 |
131,476,587 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R4290:Auts2
|
UTSW |
5 |
131,474,971 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4575:Auts2
|
UTSW |
5 |
132,258,934 (GRCm38) |
missense |
probably benign |
0.17 |
|
R4576:Auts2
|
UTSW |
5 |
132,258,934 (GRCm38) |
missense |
probably benign |
0.17 |
|
R4578:Auts2
|
UTSW |
5 |
132,258,934 (GRCm38) |
missense |
probably benign |
0.17 |
|
R4623:Auts2
|
UTSW |
5 |
131,440,383 (GRCm38) |
missense |
probably benign |
0.25 |
|
R4632:Auts2
|
UTSW |
5 |
131,472,275 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4663:Auts2
|
UTSW |
5 |
131,439,638 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4835:Auts2
|
UTSW |
5 |
131,466,093 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4881:Auts2
|
UTSW |
5 |
131,472,450 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5030:Auts2
|
UTSW |
5 |
131,443,498 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5032:Auts2
|
UTSW |
5 |
131,476,891 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R5078:Auts2
|
UTSW |
5 |
132,258,947 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R5093:Auts2
|
UTSW |
5 |
131,439,458 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5182:Auts2
|
UTSW |
5 |
131,475,081 (GRCm38) |
missense |
probably null |
0.01 |
|
R5305:Auts2
|
UTSW |
5 |
131,443,794 (GRCm38) |
intron |
probably benign |
|
|
R5429:Auts2
|
UTSW |
5 |
131,472,335 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5601:Auts2
|
UTSW |
5 |
131,476,823 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R5725:Auts2
|
UTSW |
5 |
131,439,746 (GRCm38) |
missense |
probably benign |
0.35 |
|
R5990:Auts2
|
UTSW |
5 |
131,476,895 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R6074:Auts2
|
UTSW |
5 |
131,476,989 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R6130:Auts2
|
UTSW |
5 |
131,440,223 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6321:Auts2
|
UTSW |
5 |
131,466,115 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6974:Auts2
|
UTSW |
5 |
131,440,599 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7000:Auts2
|
UTSW |
5 |
131,440,218 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7014:Auts2
|
UTSW |
5 |
131,466,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7154:Auts2
|
UTSW |
5 |
131,451,893 (GRCm38) |
missense |
|
|
|
R7812:Auts2
|
UTSW |
5 |
131,472,446 (GRCm38) |
missense |
|
|
|
R7922:Auts2
|
UTSW |
5 |
131,440,373 (GRCm38) |
missense |
|
|
|
R8159:Auts2
|
UTSW |
5 |
131,460,125 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8553:Auts2
|
UTSW |
5 |
131,440,143 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8873:Auts2
|
UTSW |
5 |
131,443,664 (GRCm38) |
missense |
|
|
|
R8970:Auts2
|
UTSW |
5 |
132,258,952 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R9348:Auts2
|
UTSW |
5 |
131,461,317 (GRCm38) |
missense |
|
|
|
R9500:Auts2
|
UTSW |
5 |
131,476,781 (GRCm38) |
missense |
unknown |
|
|
Z1088:Auts2
|
UTSW |
5 |
131,476,554 (GRCm38) |
splice site |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTCTTGTCCCCAACAGCAAGCC -3'
(R):5'- TGTCACGTCCAGCTTCACTATAGCC -3'
Sequencing Primer
(F):5'- TGCATCTATCTCTACACACAGAATG -3'
(R):5'- CCCAGGCCAAGAGCAGTTAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation