Incidental Mutation 'R8159:Auts2'
| ID |
633427 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Auts2
|
| Ensembl Gene |
ENSMUSG00000029673 |
| Gene Name |
autism susceptibility candidate 2 |
| Synonyms |
D830032G16Rik, A730011F23Rik, 2700063G02Rik |
| MMRRC Submission |
067585-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8159 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
131466171-132572059 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 131488963 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161374]
[ENSMUST00000161804]
[ENSMUST00000187544]
|
| AlphaFold |
A0A087WPF7 |
| Predicted Effect |
probably null
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 null
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 |
probably null
Transcript: ENSMUST00000162101
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000187544
|
| SMART Domains |
Protein: ENSMUSP00000139759
Gene: ENSMUSG00000029673
| 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 |
|
| Meta Mutation Damage Score |
0.9489 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
100% (49/49) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
C |
A |
3: 59,843,843 (GRCm39) |
P179Q |
probably damaging |
Het |
| Abcc1 |
C |
T |
16: 14,290,794 (GRCm39) |
T1468I |
probably damaging |
Het |
| Adrb3 |
A |
C |
8: 27,718,099 (GRCm39) |
C117G |
probably benign |
Het |
| Aff4 |
A |
T |
11: 53,302,721 (GRCm39) |
S1065C |
possibly damaging |
Het |
| Agrn |
G |
A |
4: 156,256,825 (GRCm39) |
A1260V |
probably benign |
Het |
| BC005537 |
T |
A |
13: 24,993,916 (GRCm39) |
H159Q |
probably benign |
Het |
| Cacna2d4 |
A |
G |
6: 119,274,488 (GRCm39) |
D625G |
probably benign |
Het |
| Cd72 |
A |
G |
4: 43,450,174 (GRCm39) |
Y245H |
probably damaging |
Het |
| Ceacam20 |
G |
T |
7: 19,710,109 (GRCm39) |
V378L |
probably damaging |
Het |
| Chpf |
C |
T |
1: 75,455,436 (GRCm39) |
R105K |
probably null |
Het |
| Chst9 |
A |
T |
18: 15,585,365 (GRCm39) |
Y399* |
probably null |
Het |
| Cntn5 |
A |
G |
9: 10,145,386 (GRCm39) |
I108T |
possibly damaging |
Het |
| Col14a1 |
A |
G |
15: 55,291,324 (GRCm39) |
T931A |
unknown |
Het |
| D630045J12Rik |
T |
C |
6: 38,105,410 (GRCm39) |
H1890R |
probably damaging |
Het |
| Dkk2 |
T |
C |
3: 131,880,739 (GRCm39) |
I128T |
probably benign |
Het |
| Ece2 |
C |
T |
16: 20,430,534 (GRCm39) |
P54S |
probably damaging |
Het |
| Fhip2a |
T |
C |
19: 57,372,697 (GRCm39) |
|
probably null |
Het |
| Fry |
A |
T |
5: 150,322,998 (GRCm39) |
T1050S |
probably benign |
Het |
| Gfra2 |
A |
G |
14: 71,133,397 (GRCm39) |
K76E |
probably damaging |
Het |
| Gigyf1 |
A |
T |
5: 137,520,457 (GRCm39) |
D423V |
unknown |
Het |
| Gpr180 |
G |
A |
14: 118,391,302 (GRCm39) |
G235R |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,369,003 (GRCm39) |
Q403R |
probably null |
Het |
| Hes5 |
A |
G |
4: 155,045,502 (GRCm39) |
N17S |
probably benign |
Het |
| Insrr |
T |
A |
3: 87,707,735 (GRCm39) |
L59H |
probably damaging |
Het |
| Irs1 |
A |
C |
1: 82,266,290 (GRCm39) |
I642S |
probably damaging |
Het |
| Mettl22 |
T |
C |
16: 8,306,633 (GRCm39) |
V363A |
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,028,238 (GRCm39) |
H983R |
possibly damaging |
Het |
| Nynrin |
T |
G |
14: 56,100,587 (GRCm39) |
S126A |
probably damaging |
Het |
| Nynrin |
A |
T |
14: 56,102,517 (GRCm39) |
M729L |
probably benign |
Het |
| Or51v14 |
G |
A |
7: 103,261,347 (GRCm39) |
T71I |
possibly damaging |
Het |
| Or7e178 |
A |
C |
9: 20,226,015 (GRCm39) |
I67S |
possibly damaging |
Het |
| Otof |
C |
T |
5: 30,537,538 (GRCm39) |
G1257D |
probably benign |
Het |
| Pals2 |
A |
T |
6: 50,171,527 (GRCm39) |
E392V |
probably benign |
Het |
| Pcdhgc5 |
A |
G |
18: 37,954,175 (GRCm39) |
E483G |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,680,747 (GRCm39) |
E20G |
possibly damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,001,662 (GRCm39) |
I1251V |
probably benign |
Het |
| Rfx2 |
A |
T |
17: 57,110,605 (GRCm39) |
M127K |
probably benign |
Het |
| Slc9a3 |
A |
G |
13: 74,312,407 (GRCm39) |
N668S |
probably benign |
Het |
| Smg6 |
G |
A |
11: 74,929,465 (GRCm39) |
V965M |
probably damaging |
Het |
| Spen |
A |
T |
4: 141,202,314 (GRCm39) |
H2104Q |
possibly damaging |
Het |
| Svep1 |
C |
T |
4: 58,069,396 (GRCm39) |
E2797K |
possibly damaging |
Het |
| Svep1 |
T |
C |
4: 58,087,815 (GRCm39) |
S1755G |
probably benign |
Het |
| Sycp2 |
A |
C |
2: 177,996,770 (GRCm39) |
S1144R |
probably damaging |
Het |
| Tsen54 |
T |
A |
11: 115,711,804 (GRCm39) |
L407* |
probably null |
Het |
| Uba1y |
T |
A |
Y: 828,806 (GRCm39) |
I538K |
possibly damaging |
Het |
| Vil1 |
C |
A |
1: 74,463,136 (GRCm39) |
H440N |
probably benign |
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 |
|
R4835:Auts2
|
UTSW |
5 |
131,494,931 (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 |
|
|
|
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'- CGAAAGGCCGTTTCCCATC -3'
(R):5'- GTCACTGCATGTTCTGGGGC -3'
Sequencing Primer
(F):5'- ATCTCCCTGCCTGCAAAC -3'
(R):5'- CATGTTCTGGGGCTCCTGAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation