Incidental Mutation 'R5601:Auts2'
ID |
439018 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Auts2
|
Ensembl Gene |
ENSMUSG00000029673 |
Gene Name |
autism susceptibility candidate 2 |
Synonyms |
D830032G16Rik, A730011F23Rik, 2700063G02Rik |
MMRRC Submission |
043153-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5601 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
131466171-132572059 bp(-) (GRCm39) |
Type of Mutation |
utr 5 prime |
DNA Base Change (assembly) |
G to T
at 131505662 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000182575
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183153
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182974
|
Predicted Effect |
unknown
Transcript: ENSMUST00000187544
AA Change: Q68K
|
SMART Domains |
Protein: ENSMUSP00000139759 Gene: ENSMUSG00000029673 AA Change: Q68K
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: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.3%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot12 |
G |
A |
13: 91,931,029 (GRCm39) |
V426I |
probably benign |
Het |
Asmt |
T |
C |
X: 169,110,127 (GRCm39) |
V212A |
probably damaging |
Het |
Atn1 |
A |
G |
6: 124,720,191 (GRCm39) |
|
probably null |
Het |
AW551984 |
C |
T |
9: 39,502,563 (GRCm39) |
V672M |
possibly damaging |
Het |
Bltp3a |
C |
A |
17: 28,103,468 (GRCm39) |
A392D |
probably damaging |
Het |
Ccdc13 |
G |
A |
9: 121,629,638 (GRCm39) |
Q114* |
probably null |
Het |
Ces2e |
A |
T |
8: 105,656,126 (GRCm39) |
I146F |
probably benign |
Het |
Cfap44 |
A |
G |
16: 44,280,549 (GRCm39) |
K1443E |
probably damaging |
Het |
Cma2 |
T |
A |
14: 56,211,246 (GRCm39) |
H179Q |
possibly damaging |
Het |
Cpsf2 |
G |
T |
12: 101,951,614 (GRCm39) |
|
probably null |
Het |
Cwh43 |
A |
G |
5: 73,575,283 (GRCm39) |
|
probably null |
Het |
Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
Dram1 |
A |
G |
10: 88,160,629 (GRCm39) |
S231P |
probably damaging |
Het |
Fbxw7 |
A |
G |
3: 84,883,515 (GRCm39) |
D482G |
probably damaging |
Het |
Fstl1 |
T |
C |
16: 37,647,161 (GRCm39) |
I177T |
probably benign |
Het |
Fut9 |
T |
C |
4: 25,620,299 (GRCm39) |
T172A |
probably benign |
Het |
Gm5134 |
G |
A |
10: 75,821,786 (GRCm39) |
V207M |
probably damaging |
Het |
Hccs |
G |
A |
X: 168,096,597 (GRCm39) |
R203C |
probably damaging |
Het |
Hmgxb3 |
A |
T |
18: 61,270,694 (GRCm39) |
F877I |
probably damaging |
Het |
Ide |
A |
G |
19: 37,292,379 (GRCm39) |
V272A |
unknown |
Het |
Impact |
C |
T |
18: 13,109,064 (GRCm39) |
T65I |
probably benign |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Muc17 |
A |
G |
5: 137,166,863 (GRCm39) |
S309P |
probably damaging |
Het |
Myf6 |
A |
C |
10: 107,330,475 (GRCm39) |
S31A |
probably damaging |
Het |
Or4n4b |
C |
A |
14: 50,536,318 (GRCm39) |
W149C |
probably damaging |
Het |
Or8b35 |
C |
G |
9: 37,904,010 (GRCm39) |
T74R |
possibly damaging |
Het |
P4hb |
T |
A |
11: 120,462,441 (GRCm39) |
E88D |
possibly damaging |
Het |
Pcdhb9 |
T |
C |
18: 37,535,259 (GRCm39) |
C418R |
probably damaging |
Het |
Pramel51 |
T |
C |
12: 88,142,817 (GRCm39) |
D267G |
probably damaging |
Het |
Prdm4 |
TCTCCTCCT |
TCTCCT |
10: 85,728,987 (GRCm39) |
|
probably null |
Het |
Prss58 |
A |
T |
6: 40,874,783 (GRCm39) |
N19K |
possibly damaging |
Het |
Ptprq |
C |
T |
10: 107,444,291 (GRCm39) |
A1438T |
probably benign |
Het |
Rfx4 |
A |
T |
10: 84,634,442 (GRCm39) |
T61S |
probably damaging |
Het |
Sclt1 |
T |
A |
3: 41,685,354 (GRCm39) |
N35Y |
probably benign |
Het |
Sec24b |
CTG |
CTGGTG |
3: 129,834,483 (GRCm39) |
|
probably benign |
Het |
Serpinb12 |
T |
C |
1: 106,881,427 (GRCm39) |
I188T |
probably damaging |
Het |
Slc27a4 |
A |
T |
2: 29,695,672 (GRCm39) |
Y69F |
probably benign |
Het |
Slc3a1 |
T |
C |
17: 85,340,319 (GRCm39) |
V247A |
probably benign |
Het |
Slc4a2 |
C |
T |
5: 24,643,772 (GRCm39) |
T854I |
probably benign |
Het |
Stat5b |
G |
A |
11: 100,674,001 (GRCm39) |
T761M |
probably damaging |
Het |
Stkld1 |
T |
C |
2: 26,842,717 (GRCm39) |
L563P |
probably damaging |
Het |
Tbc1d23 |
C |
A |
16: 57,018,672 (GRCm39) |
C283F |
probably benign |
Het |
Tcaf3 |
T |
C |
6: 42,564,462 (GRCm39) |
N900S |
possibly damaging |
Het |
Tkfc |
T |
C |
19: 10,571,927 (GRCm39) |
T370A |
probably benign |
Het |
Tpr |
T |
C |
1: 150,311,604 (GRCm39) |
V1868A |
possibly damaging |
Het |
Triobp |
T |
A |
15: 78,857,833 (GRCm39) |
W1145R |
probably damaging |
Het |
Vmn2r82 |
T |
G |
10: 79,232,025 (GRCm39) |
L675V |
probably damaging |
Het |
Zfp423 |
T |
C |
8: 88,508,637 (GRCm39) |
E444G |
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 |
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'- TGTTGAGGCTCAGGCTACTG -3'
(R):5'- TGAACACAACCAAGATGCGG -3'
Sequencing Primer
(F):5'- CTACTGCTGTTGTAGGCCGAC -3'
(R):5'- CCAAGATGCGGGACCAATTGTC -3'
|
Posted On |
2016-10-26 |