Incidental Mutation 'R8873:Auts2'
ID |
676415 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Auts2
|
Ensembl Gene |
ENSMUSG00000029673 |
Gene Name |
autism susceptibility candidate 2 |
Synonyms |
D830032G16Rik, A730011F23Rik, 2700063G02Rik |
MMRRC Submission |
068686-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8873 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
131466171-132572059 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 131472502 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 317
(F317L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124027
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161374]
[ENSMUST00000161804]
[ENSMUST00000187544]
|
AlphaFold |
A0A087WPF7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161374
AA Change: F302L
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000124730 Gene: ENSMUSG00000029673 AA Change: F302L
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 |
|
SMART Domains |
Protein: ENSMUSP00000124027 Gene: ENSMUSG00000029673 AA Change: F317L
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: F526L
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000139759 Gene: ENSMUSG00000029673 AA Change: F526L
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 |
0.2471 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
98% (42/43) |
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 |
Abhd15 |
C |
A |
11: 77,406,577 (GRCm39) |
R185S |
probably damaging |
Het |
Aoah |
A |
G |
13: 21,089,852 (GRCm39) |
N157D |
probably benign |
Het |
Arhgap35 |
T |
C |
7: 16,295,415 (GRCm39) |
N1217D |
possibly damaging |
Het |
Asah2 |
A |
T |
19: 32,022,288 (GRCm39) |
|
probably null |
Het |
Asb2 |
T |
C |
12: 103,299,725 (GRCm39) |
N236D |
probably damaging |
Het |
Cfap74 |
T |
C |
4: 155,539,465 (GRCm39) |
I930T |
unknown |
Het |
Cmip |
T |
C |
8: 118,103,929 (GRCm39) |
V51A |
probably damaging |
Het |
Col15a1 |
T |
C |
4: 47,247,552 (GRCm39) |
|
probably null |
Het |
Cstf3 |
A |
T |
2: 104,475,355 (GRCm39) |
H97L |
possibly damaging |
Het |
Dip2c |
A |
T |
13: 9,625,182 (GRCm39) |
M559L |
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,219,334 (GRCm39) |
N51D |
probably benign |
Het |
Dock4 |
T |
A |
12: 40,726,767 (GRCm39) |
Y348* |
probably null |
Het |
Ehhadh |
C |
T |
16: 21,581,598 (GRCm39) |
G465R |
probably damaging |
Het |
Fam110b |
C |
T |
4: 5,799,103 (GRCm39) |
Q174* |
probably null |
Het |
Fam124a |
A |
G |
14: 62,844,024 (GRCm39) |
T511A |
probably benign |
Het |
Fbxl17 |
A |
G |
17: 63,691,971 (GRCm39) |
V528A |
probably damaging |
Het |
Fbxw24 |
C |
A |
9: 109,453,996 (GRCm39) |
W50L |
probably damaging |
Het |
Fyb2 |
A |
T |
4: 104,856,538 (GRCm39) |
E582V |
probably damaging |
Het |
Ganab |
G |
A |
19: 8,888,243 (GRCm39) |
W463* |
probably null |
Het |
Gm11569 |
G |
T |
11: 99,689,210 (GRCm39) |
T163N |
unknown |
Het |
Gm8237 |
G |
T |
14: 5,862,453 (GRCm38) |
Y86* |
probably null |
Het |
Hrh4 |
T |
A |
18: 13,140,195 (GRCm39) |
M30K |
|
Het |
Ifi209 |
A |
G |
1: 173,470,156 (GRCm39) |
Y248C |
probably damaging |
Het |
Jazf1 |
T |
A |
6: 52,789,165 (GRCm39) |
H103L |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,486,172 (GRCm39) |
T66A |
probably damaging |
Het |
Ndufa4 |
A |
G |
6: 11,907,360 (GRCm39) |
L2P |
probably benign |
Het |
Npnt |
G |
A |
3: 132,655,816 (GRCm39) |
|
probably benign |
Het |
Nrxn1 |
G |
T |
17: 90,872,821 (GRCm39) |
C1052* |
probably null |
Het |
Nsmce4a |
G |
T |
7: 130,148,886 (GRCm39) |
A40E |
unknown |
Het |
Or2t6 |
A |
T |
14: 14,175,344 (GRCm38) |
V246E |
probably damaging |
Het |
Pcdhgb2 |
T |
C |
18: 37,824,341 (GRCm39) |
V444A |
probably damaging |
Het |
Pcdhgb7 |
C |
T |
18: 37,886,575 (GRCm39) |
P582S |
possibly damaging |
Het |
Phf3 |
T |
C |
1: 30,843,773 (GRCm39) |
T1729A |
possibly damaging |
Het |
Plod2 |
T |
A |
9: 92,489,112 (GRCm39) |
|
probably benign |
Het |
Pramel15 |
G |
T |
4: 144,099,871 (GRCm39) |
A298E |
probably benign |
Het |
Rbm20 |
G |
T |
19: 53,665,911 (GRCm39) |
V25F |
probably benign |
Het |
Recql |
G |
T |
6: 142,308,013 (GRCm39) |
Q53K |
|
Het |
Rps18-ps6 |
T |
A |
13: 97,896,843 (GRCm39) |
N85I |
probably damaging |
Het |
Rtel1 |
CAAA |
CAA |
2: 180,997,816 (GRCm39) |
|
probably null |
Het |
Serpine2 |
A |
G |
1: 79,799,267 (GRCm39) |
|
probably benign |
Het |
Siglecg |
A |
G |
7: 43,067,448 (GRCm39) |
T672A |
probably benign |
Het |
Skil |
T |
C |
3: 31,152,075 (GRCm39) |
L199P |
probably damaging |
Het |
Tmprss11f |
C |
T |
5: 86,692,733 (GRCm39) |
A64T |
probably damaging |
Het |
Ttc3 |
C |
T |
16: 94,243,842 (GRCm39) |
T1282M |
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 |
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 |
|
R8553:Auts2
|
UTSW |
5 |
131,468,981 (GRCm39) |
missense |
probably benign |
0.00 |
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'- ACTAACGGAGGAGTCTCGTTTATC -3'
(R):5'- TGAGCTGCCTCTACAGTGTAG -3'
Sequencing Primer
(F):5'- ACGGAGGAGTCTCGTTTATCTACATC -3'
(R):5'- ACGAGCGTTCCTCTAATGAG -3'
|
Posted On |
2021-07-15 |