Incidental Mutation 'R8553:Auts2'
| ID |
659964 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Auts2
|
| Ensembl Gene |
ENSMUSG00000029673 |
| Gene Name |
autism susceptibility candidate 2 |
| Synonyms |
D830032G16Rik, A730011F23Rik, 2700063G02Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8553 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
131466171-132572059 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 131468981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 779
(T779A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161374]
[ENSMUST00000161804]
[ENSMUST00000187544]
|
| AlphaFold |
A0A087WPF7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161374
AA Change: T555A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124730
Gene: ENSMUSG00000029673
AA Change: T555A
| 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 |
unknown
Transcript: ENSMUST00000161804
AA Change: T570A
|
| SMART Domains |
Protein: ENSMUSP00000124027
Gene: ENSMUSG00000029673
AA Change: T570A
| 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 benign
Transcript: ENSMUST00000162101
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187544
AA Change: T779A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000139759
Gene: ENSMUSG00000029673
AA Change: T779A
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
A |
G |
4: 123,754,327 (GRCm39) |
I80M |
probably benign |
Het |
| Acsbg3 |
T |
A |
17: 57,188,021 (GRCm39) |
D176E |
probably benign |
Het |
| Aga |
G |
A |
8: 53,973,367 (GRCm39) |
R255H |
probably damaging |
Het |
| Anapc1 |
G |
A |
2: 128,461,833 (GRCm39) |
P1757L |
possibly damaging |
Het |
| Arfgef3 |
T |
A |
10: 18,479,278 (GRCm39) |
I1446L |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,019,540 (GRCm39) |
S778P |
possibly damaging |
Het |
| Cep164 |
A |
T |
9: 45,718,508 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,230,304 (GRCm39) |
T1595A |
probably benign |
Het |
| Csmd3 |
G |
T |
15: 47,484,724 (GRCm39) |
T3214K |
possibly damaging |
Het |
| Dpy30 |
A |
G |
17: 74,622,913 (GRCm39) |
L23P |
probably damaging |
Het |
| Edrf1 |
A |
G |
7: 133,252,047 (GRCm39) |
E391G |
possibly damaging |
Het |
| Egflam |
A |
T |
15: 7,237,229 (GRCm39) |
V985E |
probably damaging |
Het |
| Elmo3 |
T |
C |
8: 106,033,810 (GRCm39) |
V201A |
probably benign |
Het |
| Entrep3 |
A |
C |
3: 89,094,153 (GRCm39) |
D322A |
possibly damaging |
Het |
| Epb41l5 |
T |
A |
1: 119,477,671 (GRCm39) |
D700V |
possibly damaging |
Het |
| Esr1 |
T |
C |
10: 4,947,847 (GRCm39) |
S467P |
probably damaging |
Het |
| Eya4 |
G |
A |
10: 22,982,157 (GRCm39) |
H601Y |
probably damaging |
Het |
| Fancm |
A |
C |
12: 65,173,469 (GRCm39) |
N1927T |
possibly damaging |
Het |
| Gcfc2 |
A |
G |
6: 81,912,944 (GRCm39) |
T248A |
probably benign |
Het |
| Gm29106 |
T |
A |
1: 118,128,149 (GRCm39) |
C614S |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,773,328 (GRCm39) |
T249A |
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,491,661 (GRCm39) |
S3700P |
possibly damaging |
Het |
| Hr |
T |
C |
14: 70,804,965 (GRCm39) |
L950P |
probably damaging |
Het |
| Hsd3b3 |
T |
A |
3: 98,651,205 (GRCm39) |
T82S |
possibly damaging |
Het |
| Ifit2 |
C |
A |
19: 34,550,538 (GRCm39) |
A26E |
probably benign |
Het |
| Igsf9b |
A |
G |
9: 27,244,739 (GRCm39) |
D902G |
probably damaging |
Het |
| Itga4 |
G |
A |
2: 79,131,405 (GRCm39) |
R591Q |
probably damaging |
Het |
| Kcnb1 |
A |
T |
2: 166,946,531 (GRCm39) |
S772R |
possibly damaging |
Het |
| Klhl32 |
T |
A |
4: 24,629,343 (GRCm39) |
I213L |
probably benign |
Het |
| Lcn3 |
A |
T |
2: 25,656,347 (GRCm39) |
|
probably null |
Het |
| Lpin2 |
T |
A |
17: 71,538,232 (GRCm39) |
S293T |
probably damaging |
Het |
| Magi2 |
T |
C |
5: 20,856,198 (GRCm39) |
F840S |
probably benign |
Het |
| Myt1 |
G |
A |
2: 181,439,344 (GRCm39) |
E289K |
possibly damaging |
Het |
| Ndst4 |
A |
G |
3: 125,503,756 (GRCm39) |
S8G |
probably damaging |
Het |
| Nlrp4f |
T |
C |
13: 65,343,252 (GRCm39) |
D109G |
possibly damaging |
Het |
| Or6d14 |
G |
T |
6: 116,534,289 (GRCm39) |
R301L |
probably damaging |
Het |
| Pcdhb12 |
C |
T |
18: 37,570,687 (GRCm39) |
A611V |
probably damaging |
Het |
| Pcif1 |
A |
T |
2: 164,728,417 (GRCm39) |
I225F |
probably damaging |
Het |
| Peli3 |
A |
G |
19: 4,984,960 (GRCm39) |
F150L |
probably damaging |
Het |
| Qng1 |
G |
A |
13: 58,532,694 (GRCm39) |
T92M |
probably damaging |
Het |
| Rfx7 |
A |
G |
9: 72,519,086 (GRCm39) |
T263A |
probably damaging |
Het |
| Rpn1 |
A |
G |
6: 88,072,539 (GRCm39) |
Y294C |
probably damaging |
Het |
| Rusc2 |
T |
A |
4: 43,416,508 (GRCm39) |
S605T |
probably benign |
Het |
| Sec23ip |
A |
C |
7: 128,355,777 (GRCm39) |
Q300P |
probably damaging |
Het |
| Sh2d3c |
A |
G |
2: 32,635,925 (GRCm39) |
T98A |
probably damaging |
Het |
| Siah3 |
T |
A |
14: 75,763,067 (GRCm39) |
I106K |
probably benign |
Het |
| Spns2 |
C |
T |
11: 72,348,053 (GRCm39) |
D305N |
probably damaging |
Het |
| Sult1a1 |
G |
T |
7: 126,273,333 (GRCm39) |
Q177K |
probably benign |
Het |
| Tas2r109 |
A |
G |
6: 132,957,171 (GRCm39) |
I253T |
probably benign |
Het |
| Tcof1 |
T |
C |
18: 60,964,643 (GRCm39) |
D661G |
possibly damaging |
Het |
| Tdrd1 |
A |
G |
19: 56,831,584 (GRCm39) |
N325S |
probably damaging |
Het |
| Tfcp2l1 |
C |
A |
1: 118,560,082 (GRCm39) |
A58E |
probably damaging |
Het |
| Wdcp |
T |
C |
12: 4,902,024 (GRCm39) |
|
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 |
|
|
|
R8159:Auts2
|
UTSW |
5 |
131,488,963 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- TGTCCAAGTCACGGTAAGGATCC -3'
(R):5'- AGGCCTAACAGCACCTCTAGTC -3'
Sequencing Primer
(F):5'- GTCACGGTAAGGATCCCTCAAG -3'
(R):5'- TAACAGCACCTCTAGTCGGGAAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation